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Sample records for anemia sickle cell

  1. Sickle cell anemia

    Science.gov (United States)

    Anemia - sickle cell; Hemoglobin SS disease (Hb SS); Sickle cell disease ... Sickle cell anemia is caused by an abnormal type of hemoglobin called hemoglobin S. Hemoglobin is a protein inside red blood cells ...

  2. Sickle cell anemia.

    OpenAIRE

    ŘÍHOVÁ, Tereza

    2013-01-01

    This thesis is about the disease called sickle cell anemia, or drepanocytosis. In this thesis is described the history of the disease, pathophysiology, laboratory features, various clinical features, diferencial diagnosis, quality of life in sickle cell anemia and therapy.

  3. Sickle Cell Anemia Bibliography.

    Science.gov (United States)

    Christy, Steven C.

    Presents sources for the acquisition of medical, social, psychological, educational, and practical knowledge of sickle cell anemia. The materials listed are designed to help parents, educators, and public service workers. Materials include journal articles, films, brochures, slides, and fact sheets. The usual bibliographic information is given.…

  4. The Student with Sickle Cell Anemia.

    Science.gov (United States)

    Tetrault, Sylvia M.

    1981-01-01

    Sickle cell anemia is the most common and severe of inherited chronic blood disorders. In the United States, sickle cell anemia is most common among the Black population. Among the most commonly occurring symptoms are: an enlarged spleen, episodes of severe pain, easily contracted infections, skin ulcers, and frequent urination. (JN)

  5. Salmonella osteomyelitis by sickle cell anemia

    International Nuclear Information System (INIS)

    Rausch, H.; Tran, V.T.; Boeckmann, U.; Duesseldorf Univ.

    1985-01-01

    Case report of a 28 year old black sickle cell anemia patient with salmonella osteomyelitis of the radius. Aside from sickle cell anemia patients this skeletal complication of enteric salmonellosis is an extreme rarity. Description of the typical roentgenological features includes intracortical fissures and sequestration. (orig.) [de

  6. Sickle cell anemia: Review and remedial hope | Parmar | Egyptian ...

    African Journals Online (AJOL)

    In this background management of sickle cell patients in context of ... Key Words: Sickle cell anemia, infant mortality, pre-reproductive mortality, Indian tribes, malaria, sickle cell crisis management, remedial hope for sickle cell patients.

  7. Protrusio acetabuli in sickle-cell anemia

    International Nuclear Information System (INIS)

    Martinez, S.; Apple, J.S.; Baber, C.; Putman, C.E.; Rosse, W.F.

    1984-01-01

    Of 155 adults with sickle-cell anemia (SS, SC), radiographs of the pelvis or hip demonstrated protrusio acetabuli on at least one side in 14 (3 men and 11 women), as indicated by projection of the acetabular line medial to the ilio-ischial line. All 14 patients had bone changes attributable to sickle-cell anemia, including marrow hyperplasia and osteonecrosis; however, the severity of femoral or acetabular osteonecrosis did not appear directly related to the protrusion. The authors conclude that sickle-cell anemia can predispose to development of protrusio acetabuli

  8. Tissue Factor and Thrombin in Sickle Cell Anemia

    OpenAIRE

    Chantrathammachart, Pichika; Pawlinski, Rafal

    2012-01-01

    Sickle cell anemia is an inherited hematologic disorder associated with hemolytic and vaso-occlusive complications. An activation of coagulation is also a prominent feature of sickle cell anemia. Growing evidence indicates that coagulation may contribute to the inflammation and vascular injury in sickle cell anemia. This review focuses on tissue factor expression and its contribution to the activation of coagulation, thrombosis and vascular inflammation in sickle cell anemia.

  9. Musculoskeletal manifestations in sickle cell anemia

    Directory of Open Access Journals (Sweden)

    Reddy Ravikanth

    2017-01-01

    Full Text Available Sickle cell anemia is an inherited hemoglobin disorder characterized by substitution of glutamic acid by valine at the sixth position of the beta globin chain. The sequence of events leads to pain crisis. Ischemia of the tissues resulting from decreased blood flow is believed to occur in pain crisis. Repeated or prolonged sickling causes red cell death in the form of hemolytic anemia. The majority of hospital admissions are due to painful crisis. These patients are at increased risk for both osteomyelitis and infarction of the long bones. Magnetic resonance imaging has been shown to be helpful in the diagnosis of early osteomyelitis and its differentiation from infarction in sickle cell disease patients with acute bone crisis. Others findings include dactylitis, medullary infarcts, diploic space widening, fish mouth vertebrae, and avascular necrosis. We present a case series on the various musculoskeletal manifestations of sickle cell disease.

  10. Sickle Cell Anemia Disease (For Kids)

    Science.gov (United States)

    ... Safe Videos for Educators Search English Español Sickle Cell Disease KidsHealth / For Kids / Sickle Cell Disease What's ... to stay in the hospital. What Causes Sickle Cell Disease? Sickle cell disease is an inherited (say: ...

  11. Stroke Prevention Trials in Sickle Cell Anemia

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2006-06-01

    Full Text Available As part of an International Pediatric Stroke Study launched in 2002, the Stroke Prevention Trial in Sickle Cell Anemia (STOP reports a reduction in the number of overt clinical strokes in children with critically high transcranial Doppler velocities (>200 cm/sec who were regularly transfused.

  12. Sickle Cell Anemia: MedlinePlus Health Topic

    Science.gov (United States)

    ... Cell Disease Also called: Hemoglobin SS disease, Sickle cell anemia On this page Basics Summary Start Here Diagnosis ... red blood cells. This is a condition called anemia , and it can make you feel tired. The ...

  13. Microfluidic approach of Sickled Cell Anemia

    Science.gov (United States)

    Abkarian, Manouk; Loiseau, Etienne; Massiera, Gladys

    2012-11-01

    Sickle Cell Anemia is a disorder of the microcirculation caused by a genetic point mutation that produces an altered hemoglobin protein called HbS. HbS self-assembles reversibly into long rope like fibers inside the red blood cells. The resulting distorded sickled red blood cells are believed to block the smallest capillaries of the tissues producing anemia. Despite the large amount of work that provided a thorough understanding of HbS polymerization in bulk as well as in intact red blood cells at rest, no consequent cellular scale approaches of the study of polymerization and its link to the capillary obstruction have been proposed in microflow, although the problem of obstruction is in essence a circulatory problem. Here, we use microfluidic channels, designed to mimic physiological conditions (flow velocity, oxygen concentration, hematocrit...) of the microcirculation to carry out a biomimetic study at the cellular scale of sickled cell vaso-occlusion. We show that flow geometry, oxygen concentration, white blood cells and free hemoglobin S are essential in the formation of original cell aggregates which could play a role in the vaso-occlusion events.

  14. Prevalence of hypoxemia among children with sickle cell anemia ...

    African Journals Online (AJOL)

    Background: Patients with sickle cell anemia (SCA) are prone to recurrent pain crises related to red blood cell sickling and vaso.occlusion with subsequent tissue hypoxia. Alveolar hypoxia has been shown to be associated with entrapment of sickle cells in the pulmonary microcirculation which may propagate a cycle of ...

  15. Etiology of Strokes in Children with Sickle Cell Anemia

    Science.gov (United States)

    DeBaun, Michael R.; Derdeyn, Colin P.; McKinstry, Robert C., III

    2006-01-01

    The most devastating complication of sickle cell anemia is cerebral infarction, affecting [approximately]30% of all individuals with sickle cell anemia. Despite being one of the most common causes of stroke in infants and children, the mechanism of cerebral infarction in this population has not been extensively studied and is poorly understood.…

  16. Students with Sickle Cell Anemia Participating in Recess

    Science.gov (United States)

    Lucas, Matthew D.; Devlin, Katharine M.

    2011-01-01

    The participation of a student with Sickle Cell Anemia in recess can often be both challenging and rewarding for the student and teacher. This paper will address common characteristics of students with Sickle Cell Anemia and present basic solutions to improve the experience of these students in the recess setting. Initially the definition,…

  17. Emerging drugs for sickle cell anemia.

    Science.gov (United States)

    Singh, Priya C; Ballas, Samir K

    2015-03-01

    The search for effective therapeutic interventions for sickle cell disease (SCD) has been an ongoing endeavor for over 50 years. During this period, only hydroxyurea (HU), which received US FDA approval in February 1998, was identified as an effective therapeutic agent in preventing or ameliorating the frequency of vaso-occlusive crises, acute chest syndrome and the need for blood transfusion. Approximately 25% of patients with sickle cell anemia (SCA), however, do not respond to HU and some patients experiencing serious side effects of this chemotherapeutic agent. Nevertheless, the success of HU opened the sluice gates to identify other effective drug therapies. The objective of this review is to describe the emerging drug therapies for SCA. In this review, we describe the pathophysiology of SCD and provide an in-depth analysis of the current and new pharmacologic therapies in the field. Literature searches involved multiple databases including Medline In-Process & Other Non-Indexed Citations, MEDLINE, Embase, Cochrane Database of Systematic Reviews, and Scopus. SCA is a heterogeneous disease that has caused tremendous global morbidity and early mortality. More effective, individualized and inexpensive therapies are needed. New therapies targeting multiple pathways in its complex pathophysiology are under investigation.

  18. Duodenal perforation: an unusual complication of sickle cell anemia.

    Science.gov (United States)

    Acıpayam, Can; Aldıç, Güliz; Akçora, Bülent; Çelikkaya, Mehmet Emin; Aşkar, Hasan; Dorum, Bayram Ali

    2014-01-01

    Duodenal perforation in childhood is a rare condition with a high mortality rate if not treated surgically. Primary gastroduodenal perforation is frequently associated with peptic ulcer and exhibits a positive family history. Helicobacter pylorus is the most significant agent. Secondary gastroduodenal perforation may be a finding of specific diseases, such as Crohn disease, or more rarely may be associated with diseases such as cystic fibrosis or sickle cell anemia. A 14-year-old boy presented with abdominal and back pain. The patient was operated on for acute abdomen and diagnosed with duodenal perforation. Helicobacter pylorus was negative. There was no risk factor to account for duodenal perforation other than sickle cell anemia. Surgical intervention was successful and without significant sequelae. Duodenal perforation is a rare entity described in patients with sickle cell anemia. To our knowledge, this is the first report of duodenal perforation in a patient sickle cell anemia.

  19. Preconception Care and Sickle Cell Anemia in Pregnancy

    African Journals Online (AJOL)

    Background: Pregnancy in women with sickle cell anemia is associated with adverse outcome for mother and child, but ... of one amino acid by another, namely valine for glutamic ... improvement in nutritional status and the use of daily folic.

  20. Current Management of Sickle Cell Anemia

    Science.gov (United States)

    McGann, Patrick T.; Nero, Alecia C.; Ware, Russell E.

    2013-01-01

    Proper management of sickle cell anemia (SCA) begins with establishing the correct diagnosis early in life, ideally during the newborn period. The identification of affected infants by neonatal screening programs allows early initiation of prophylactic penicillin and pneumococcal immunizations, which help prevent overwhelming sepsis. Ongoing education of families promotes the early recognition of disease-released complications, which allows prompt and appropriate medical evaluation and therapeutic intervention. Periodic evaluation by trained specialists helps provide comprehensive care, including transcranial Doppler examinations to identify children at risk for primary stroke, plus assessments for other parenchymal organ damage as patients become teens and adults. Treatment approaches that previously highlighted acute vaso-occlusive events are now evolving to the concept of preventive therapy. Liberalized use of blood transfusions and early consideration of hydroxyurea treatment represent a new treatment paradigm for SCA management. PMID:23709685

  1. Reproductive endocrine issues in men with sickle cell anemia.

    Science.gov (United States)

    Huang, A W; Muneyyirci-Delale, O

    2017-07-01

    In patients with sickle cell anemia, the sickling of red blood cells is known to cause end-organ damage by infarction. In some men who are affected by sickle cell anemia, the obstruction of venous outflow of the penis causes priapism, which could lead to erectile dysfunction. There is also evidence that the disease is linked to other reproductive issues in men-specifically delayed puberty, low testosterone, and sperm abnormalities-although the causes of these problems are less clear. Treatment of sickle cell anemia can have effects on the reproductive system as well. This review summarizes the findings from various publications pertaining to reproductive endocrinology, along with their conclusions and discrepancies. © 2017 American Society of Andrology and European Academy of Andrology.

  2. New concepts in sickle cell anemia | Chiabi | Clinics in Mother and ...

    African Journals Online (AJOL)

    New concepts in sickle cell anemia. ... Abstract. Current knowledge on the pathophysiology of sickle cell anemia is reviewed and potential therapeutic options are reviewed and ... Clinics in Mother and Child Health Vol. ... HOW TO USE AJOL.

  3. Optimizing hydroxyurea therapy for sickle cell anemia.

    Science.gov (United States)

    Ware, Russell E

    2015-01-01

    Hydroxyurea has proven efficacy in numerous clinical trials as a disease-modifying treatment for patients with sickle cell anemia (SCA) but is currently under-used in clinical practice. To improve the effectiveness of hydroxyurea therapy, efforts should be directed toward broadening the clinical treatment indications, optimizing the daily dosage, and emphasizing the benefits of early and extended treatment. Here, various issues related to hydroxyurea treatment are discussed, focusing on both published evidence and clinical experience. Specific guidance is provided regarding important but potentially unfamiliar aspects of hydroxyurea treatment for SCA, such as escalating to maximum tolerated dose, treating in the setting of cerebrovascular disease, switching from chronic transfusions to hydroxyurea, and using serial phlebotomy to alleviate iron overload. Future research directions to optimize hydroxyurea therapy are also discussed, including personalized dosing based on pharmacokinetic modeling, prediction of fetal hemoglobin responses based on pharmacogenomics, and the risks and benefits of hydroxyurea for non-SCA genotypes and during pregnancy/lactation. Another critical initiative is the introduction of hydroxyurea safely and effectively into global regions that have a high disease burden of SCA but limited resources, such as sub-Saharan Africa, the Caribbean, and India. Final considerations emphasize the long-term goal of optimizing hydroxyurea therapy, which is to help treatment become accepted as standard of care for all patients with SCA. © 2015 by The American Society of Hematology. All rights reserved.

  4. Hydroxyurea therapy for sickle cell anemia.

    Science.gov (United States)

    McGann, Patrick T; Ware, Russell E

    2015-01-01

    Sickle cell anemia (SCA) is a severe, inherited hemoglobin disorder affecting 100,000 persons in the US and millions worldwide. Hydroxyurea, a once daily oral medication, has emerged as the primary disease-modifying therapy for SCA. The accumulated body of evidence over 30 years demonstrates that hydroxyurea is a safe and effective therapy for SCA, but hydroxyurea remains underutilized for a variety of reasons. In this review, we summarize the available evidence regarding the pharmacology, clinical, and laboratory benefits, and safety of hydroxyurea therapy for the treatment of SCA. The purpose of this review is to provide the reader a comprehensive understanding of hydroxyurea and to reinforce the fact that hydroxyurea is a safe and effective medication for the treatment of SCA. In our opinion, hydroxyurea therapy should be considered standard-of-care for SCA, representing an essential component of patient management. Early initiation and broader use of hydroxyurea will alter the natural history of SCA, so affected children can live longer and healthier lives. In addition, hydroxyurea use should be extended to low-resource settings such as sub-Saharan Africa, where the burden of SCA and the need for hydroxyurea is arguably the greatest.

  5. Myonecrosis in Sickle Cell Anemia: Case Study.

    Science.gov (United States)

    Turaga, Lalita Prabha; Boddu, Prajwal; Kipferl, Steve; Basu, Anupam; Yorath, Martin

    2017-01-30

    BACKGROUND Myonecrosis is one of the more poorly studied, painful manifestations of sickle cell crisis. Medical literature is sparse detailing the manifestations and management of such symptoms. In myonecrosis, red cells containing sickle hemoglobin become rigid, resulting in reduced blood flow and myonecrosis. CASE REPORT We present a case study of a patient in sickle cell crisis with an episode of acute pain and swelling to the intrinsic muscles of the foot as a prominent feature of the crises. Although muscle biopsy is considered the gold standard for the diagnosis of myositis or myonecrosis, a low intensity signal on T1 and high intensity signal on T2 at the affected muscle belly can be as conclusive as imaging studies. In an actively sickling patient any invasive intervention should be avoided as it can result in ischemic necrosis of the tissues, due to interruption of capillary flow in end-arteries. CONCLUSIONS Early recognition is critical in sickle cell disease management, allowing for prompt and aggressive fluid resuscitation which remains a cornerstone in the management of most sickle cell vaso-occlusive crises. In this instance, off loading the extremity and early fluid resuscitation resolved the pain and swelling and prevented myonecrosis.

  6. Fanconi's Anemia Effect or Sickle Cell Anemia Effect: That is the Question.

    Science.gov (United States)

    Unal, Sule; Chui, David H K; Gumruk, Fatma

    2015-01-01

    A 16-year-old boy who was diagnosed to have sickle cell anemia was referred to our center. The parental consanguinity, growth retardation and dysmorphic features prompted a search for possible Fanconi's Anemia (FA). The diepoxybutane (DEB) test was positive, confirming FA. The interaction of both diseases might account for his relatively mild phenotype in terms of both sickle cell anemia (or Hb S, HBB: c.20A > T) and FA. The high Hb F level that might be related to concomitant FA, may have caused a milder phenotype of sickle cell anemia, whereas nitric oxide (NO) depletion as a consequence of sickle cell anemia, may have caused a delay in the bone marrow failure of FA.

  7. [Anesthetic considerations in sickle cell anemia: a case report].

    Science.gov (United States)

    Fernández-Meré, L A; Sopena-Zubiría, L A; Alvarez-Blanco, M

    2009-01-01

    Sickle cell anemia is the most common hemoglobinopathy. Advances in therapeutic techniques and anesthetic procedures have led to a considerable increase in the success of surgical procedures in these patients. We report the case of a 16-year-old black boy diagnosed with sickle cell anemia and beta-thalassemia who presented with chronic osteomyelitis of the tibia. He was scheduled for debridement of the lesion and musculocutaneous flap repair. We emphasize the importance of communication between anesthesiologists, surgeons, and hematologists in the perioperative period in order to determine the risk of complications and anticipate them.

  8. Unusual causes of abdominal pain: sickle cell anemia.

    Science.gov (United States)

    Ahmed, Shahid; Shahid, Rabia K; Russo, Linda A

    2005-04-01

    Sickle cell disease is characterized by chronic hemolytic anemia and vaso-occlusive painful crises. The vascular occlusion in sickle cell disease is a complex process and accounts for the majority of the clinical manifestation of the disease. Abdominal pain is an important component of vaso-occlusive painful crises. It often represents a substantial diagnostic challenge in this population of patients. These episodes are often attributed to micro-vessel occlusion and infarcts of mesentery and abdominal viscera. Abdominal pain due to sickle cell vaso-occlusive crisis is often indistinguishable from an acute intra-abdominal disease process such as acute cholecystitis, acute pancreatitis, hepatic infarction, ischemic colitis and acute appendicitis. In the majority of cases, however, no specific cause is identified and spontaneous resolution occurs. This chapter will focus on etiologies, pathophysiology and management of abdominal pain in patients with sickle cell disease.

  9. Renal abscess in a child with sickle cell anemia

    Directory of Open Access Journals (Sweden)

    Taksande Amar

    2009-01-01

    Full Text Available Renal abscess is rare in children and the usual presenting features include fever, lumbar pain, abdominal pain and occasional flank mass. Renal ultrasonography facilitates an early diagnosis and helps in percutaneous drainage. We herewith report on a child with sickle cell anemia who developed a renal abscess.

  10. Renal abscess in a child with sickle cell anemia

    OpenAIRE

    Taksande Amar; Vilhekar K

    2009-01-01

    Renal abscess is rare in children and the usual presenting features include fever, lumbar pain, abdominal pain and occasional flank mass. Renal ultrasonography facilitates an early diagnosis and helps in percutaneous drainage. We herewith report on a child with sickle cell anemia who developed a renal abscess.

  11. Renal abscess in a child with sickle cell anemia.

    Science.gov (United States)

    Taksande, Amar M; Vilhekar, K Y

    2009-03-01

    Renal abscess is rare in children and the usual presenting features include fever, lumbar pain, abdominal pain and occasional flank mass. Renal ultrasonography facilitates an early diagnosis and helps in percutaneous drainage. We herewith report on a child with sickle cell anemia who developed a renal abscess.

  12. Pancytopenia in a patient with sickle cell anemia.

    Science.gov (United States)

    Kim, K Y; Karayalcin, G; Rosner, F; Aballi, A

    1975-10-01

    An 11-year-old black boy with sickle cell anemia developed profound pancytopenia during the course of his disease, but fully recovered therefrom. The patient was receiving anticonvulsant drugs for a seizure disorder secondary to a "stroke," and, therefore, a drug-related marrow aplasia cannot be ruled out.

  13. Renal abscess in a child with sickle cell anemia

    International Nuclear Information System (INIS)

    Taksande, Amar M; Vilhekar, KY

    2009-01-01

    Renal abscess is rare in children and the usual presenting features include fever, lumbar pain, abdominal pain and occasional flank mass. Renal ultrasonography facilitates an early diagnosis and helps in percutaneous drainage. We herewith report on a child with sickle cell anemia who developed a renal abscess. (author)

  14. Precursors of executive function in infants with sickle cell anemia.

    Science.gov (United States)

    Hogan, Alexandra M; Telfer, Paul T; Kirkham, Fenella J; de Haan, Michelle

    2013-10-01

    Executive dysfunction occurs in sickle cell anemia, but there are few early data. Infants with sickle cell anemia (n = 14) and controls (n = 14) performed the "A-not-B" and Object Retrieval search tasks, measuring precursors of executive function at 9 and 12 months. Significant group differences were not found. However, for the A-not-B task, 7 of 11 sickle cell anemia infants scored in the lower 2 performance categories at 9 months, but only 1 at 12 months (P = .024); controls obtained scores at 12 months that were statistically comparable to the scores they had already obtained at 9 months. On the Object Retrieval task, 9- and 12-month controls showed comparable scores, whereas infants with sickle cell anemia continued to improve (P = .027); at 9 months, those with lower hemoglobin oxygen saturation passed fewer trials (R s = 0.670, P = .024) and took longer to obtain the toy (R s = -0.664, P = .013). Subtle delays in acquiring developmental skills may underlie abnormal executive function in childhood.

  15. Unexpected Anemia and Reticulocytopenia in an Adolescent With Sickle Cell Anemia Receiving Chronic Transfusion Therapy.

    Science.gov (United States)

    Blauel, Emily R; Grossmann, Lily T; Vissa, Madhav; Miller, Scott T

    2015-10-01

    In a patient with sickle cell disease receiving chronic transfusion, exacerbation of anemia with reticulocytopenia must prompt consideration of a delayed hemolytic transfusion reaction with hyperhemolysis, as further transfusion may worsen this condition; definitive diagnosis is sometimes difficult. Anemia evolving during parvovirus B19-induced erythroid hypoplasia (transient aplastic crisis) should be attenuated in chronic transfusion patients due to superior survival of transfused over endogenous red blood cells. A 16-year-old with sickle cell disease receiving chronic transfusion of modified intensity (goal to maintain hemoglobin S<50%) who developed symptomatic anemia with reticulocytopenia was later shown to have had transient aplastic crisis.

  16. Cerebral vasculopathy in children with sickle cell anemia.

    Science.gov (United States)

    Fasano, Ross M; Meier, Emily R; Hulbert, Monica L

    2015-01-01

    Sickle cell anemia (SCA)-associated cerebral vasculopathy and moyamoya is a unique entity reflecting the abnormal interactions between sickled red blood cells (RBCs) and the cerebral arterial endothelium. Endothelial injury, coagulation activation, and the inflammatory response generated by sickled RBCs are implicated in the development of cerebral vasculopathy, but the pathophysiology remains incompletely understood. SCA-specific screening and treatment guidelines have successfully reduced the incidence of overt strokes in this high-risk population. However, despite aggressive hematological management, many children with cerebral vasculopathy due to SCA have progressive vasculopathy and recurrent strokes; therefore, more effective therapies, such as revascularization surgery and curative hematopoietic stem cell transplant, are urgently needed. Copyright © 2014 Elsevier Inc. All rights reserved.

  17. Duodenal perforation: an unusual complication of sickle cell anemia

    OpenAIRE

    Acıpayam, Can; Aldıç, Güliz; Akçora, Bülent; Çelikkaya, Mehmet Emin; Aşkar, Hasan; Dorum, Bayram Ali

    2014-01-01

    Duodenal perforation in childhood is a rare condition with a high mortality rate if not treated surgically. Primary gastroduodenal perforation is frequently associated with peptic ulcer and exhibits a positive family history. Helicobacter pylorus is the most significant agent. Secondary gastroduodenal perforation may be a finding of specific diseases, such as Crohn disease, or more rarely may be associated with diseases such as cystic fibrosis or sickle cell anemia. A 14-year-old boy presente...

  18. Sickle cell anemia and mitral valve replacement. Case report.

    Science.gov (United States)

    Bomfim, V; Ribeiro, A; Gouvea, F; Pereira, J; Björk, V

    1989-01-01

    An 8-year-old black boy with sickle cell disease and severe hemolytic anemia crisis (95% hemoglobin S) also had mitral incompetence due to rheumatic valve disease. A 27 mm monostrut Björk-Shiley valve prosthesis was implanted after partial exchange transfusions had reduced the hemoglobin S to less than 40%. High-flow normothermic perfusion was used during extracorporeal circulation, with care taken to avoid hypoxia and acidosis. Postoperative recovery was uneventful.

  19. Hematopoietic Stem Cell Transplantation in Thalassemia and Sickle Cell Anemia

    Science.gov (United States)

    Lucarelli, Guido; Isgrò, Antonella; Sodani, Pietro; Gaziev, Javid

    2012-01-01

    The globally widespread single-gene disorders β-thalassemia and sickle cell anemia (SCA) can only be cured by allogeneic hematopoietic stem cell transplantation (HSCT). HSCT treatment of thalassemia has substantially improved over the last two decades, with advancements in preventive strategies, control of transplant-related complications, and preparative regimens. A risk class–based transplantation approach results in disease-free survival probabilities of 90%, 84%, and 78% for class 1, 2, and 3 thalassemia patients, respectively. Because of disease advancement, adult thalassemia patients have a higher risk for transplant-related toxicity and a 65% cure rate. Patients without matched donors could benefit from haploidentical mother-to-child transplantation. There is a high cure rate for children with SCA who receive HSCT following myeloablative conditioning protocols. Novel non-myeloablative transplantation protocols could make HSCT available to adult SCA patients who were previously excluded from allogeneic stem cell transplantation. PMID:22553502

  20. Self-care practice in people with sickle cell anemia

    Directory of Open Access Journals (Sweden)

    Natália Bastos Ferreira Tavares

    2017-12-01

    Full Text Available Objective: To identify the application of Orem’s self-care theory in patients with sickle cell anemia (SCA at a regional hematology center. Methods: It is a study of a descriptive nature, with an exploratory and qualitative approach, held at the regional hematology center of an inland municipality of Ceará, Brazil, with patients diagnosed and treated for SCA. The data collection was carried out in May 2014, through an interview applied to patients with sickle cell anemia or their respective legal guardians, conducted while they were in the waiting room for medical care in the institution. The following guiding question was asked: “What are the main precautions you take to prevent the complications of sickle cell disease?”. Data were analyzed according to Bardin’s content analysis technique. Results: It was evidenced that patients lack an accurate knowledge about their disease, thus disadvantaging the primary foundation for self-care. The discovery of the disease usually occurs due to the need for clinical interventions in repeated episodes of pain. The painful events represent the main difficulties and causes of hospitalizations with the search for emergency medical services. Conclusion: The educational actions provided by the multidisciplinary health team make it possible for the SCA patient and caregiver to provide better care by means of self-care activities and actions.

  1. Uncommon sites of bone infarction in a sickle cell anemia patient

    International Nuclear Information System (INIS)

    Garty, I.; Koren, A.; Katzumi, E.

    1983-01-01

    Unusual sites of bone infarction, in the skull and sternum, were observed in a patient suffering from sickle cell anemia. Asup(99m)Tc-MDP scan was performed and demonstrated foci of decreased activity in the symptomatic regions. The differentiation of bone infarction from osteomyelitis in sickle cell anemia patients is illustrated. (orig.)

  2. A Group Counseling Approach for Persons Who Work With Sickle Cell Anemia Clients.

    Science.gov (United States)

    Calvin, Richmond

    Although many workshops on sickle cell anemia have been held, it is still difficult to implement a comprehensive training program for sickle cell anemia clients in many communities. Research data on the topic are somewhat nebulous and insufficient political and social pressure have been exerted to change attitudes and take action towards the…

  3. Surgery in sickle cell anemia | Fokam | Clinics in Mother and Child ...

    African Journals Online (AJOL)

    Sickle cell anemia is a hemoglobin disorder with a wide range of clinical manifestations and complications. Medical treatment is the mainstay of management but surgery is indicated in some cases. The authors review the main surgical indications in sickle cell anemia as frequently encountered and review treatment ...

  4. Renal amyloidosis in a child with sickle cell anemia.

    Science.gov (United States)

    Simşek, Behçet; Bayazit, Aysun K; Ergin, Melek; Soran, Mustafa; Dursun, Hasan; Kilinc, Yurdanur

    2006-06-01

    The kidney is frequently affected in patients with sickle cell syndrome, i.e., homozygous and heterozygous patients, with a consequently large spectrum of renal abnormalities that may range from minimal functional changes to chronic renal failure. Here, we present a 13-year-old boy with sickle cell anemia (SCA) (HbSS) who was referred to our unit with nephrotic syndrome. Renal biopsy revealed AA type amyloidosis on the basis of light microscopic findings, indicating Congo red staining and immunohistochemistry. He had neither a family history of familial Mediterranean fever (FMF) nor any complaint of recurrent abdominal pain, arthritis, and fever, but frequent painful vaso-occlusive crises. The patient was found to have no MEFV gene (Mediterranean feVer) mutations either. Painful episodic attacks might provoke recurrent acute inflammation, leading to repeated stimulation of acute phase responses and cause secondary amyloidosis. To our knowledge, this boy is the first case of SCA complicated by renal amyloidosis observed in childhood.

  5. Clinical and laboratory profile of patients with sickle cell anemia

    Directory of Open Access Journals (Sweden)

    Phelipe Gabriel dos Santos Sant'Ana

    Full Text Available Abstract Objective: This study aimed to describe and analyze clinical and laboratory characteristics of patients with sickle cell anemia treated at the Hemominas Foundation, in Divinópolis, Brazil. Furthermore, this study aimed to compare the clinical and laboratory outcomes of the group of patients treated with hydroxyurea with those patients that were not treated with hydroxyurea. Methods: Clinical and laboratorial data were obtained by analyzing medical records of patients with sickle cell anemia. Results: Data from the medical records of 50 patients were analyzed. Most of the patients were female (56%, aged between 20 and 29 years old. Infections, transfusions, cholecystectomy, splenectomy and systemic arterial hypertension were the most common clinical adverse events of the patients. The most frequent cause of hospitalization was painful crisis. The majority of patients had reduced values of hemoglobin and hematocrit (8.55 ± 1.33 g/dL and 25.7 ± 4.4%, respectively and increased fetal hemoglobin levels (12 ± 7%. None of the clinical variables was statistically significant on comparing the two groups of patients. Among hematological variables only hemoglobin and hematocrit levels were statistically different between patients treated with hydroxyurea and untreated patients (p-value = 0.005 and p-value = 0.001, respectively. Conclusion: Sickle cell anemia requires treatment and follow-up by a multiprofessional team. A current therapeutic option is hydroxyurea. This drug reduces complications and improves laboratorial parameters of patients. In this study, the use of the drug increased the hemoglobin and hematocrit levels of patients.

  6. The pain experience of patients with sickle cell anemia.

    Science.gov (United States)

    Jacob, E

    2001-09-01

    Sickle cell anemia is a genetic disorder that affects 1 in 600 black infants in the United States. The painful crisis is one of its most characteristic manifestations and consists of pain in the extremities, back, abdomen, or chest. It may occur in 4 phases and may be precipitated by a variety of factors. The frequency, location, duration, severity, and character of pain differ both within and among patients. The pain may be localized, involve several areas, be diffuse, or be migratory. The intensity of pain varies from mild to excruciating and is perceived to be more intense by those who have experienced other forms of pain such as postoperative pain. Patients with sickle cell anemia who experience frequent painful crises exhibit problems with self-concept and low self-esteem, anxiety, depression, dissatisfaction with body image, poor school performance, social isolation, decreased participation in normal activities of daily living, and poor peer and family relationships. The periodic and unpredictable episodes can be incapacitating and may affect the way children see and feel about themselves, the way they relate to other people, the goals they set for themselves, and the way they approach a range of activities and situations. Research is very limited, and most of the available literature is based on personal observations, opinions, and anecdotal reports. The purpose of this report is to describe the phases of a painful episode as well as to examine the predisposing factors to, defining characteristics of, and patient outcomes associated with a painful crisis from sickle cell anemia.

  7. Maxillary sinus marrow hyperplasia in sickle cell anemia

    International Nuclear Information System (INIS)

    Fernandez, M.; Slovis, T.L.; Whitten-Shurney, W.

    1995-01-01

    Marrow hyperplasia is a sequela of sickle cell anemia (SCA) and may be seen in the skull in children after 5 years of age. The facial bones, except for the mandible and orbits, are usually not involved. We report an unusual case of a 28-month-old black boy with SCA who presented with extensive marrow hyperplasia of the maxillary sinuses in addition to severe calvarial and mandibular changes. The imaging characteristics on CT (similar to other sites of marrow hyperplasia) and MR (low signal on both T 1 and T 2 sequences) should aid in making the correct diagnosis. (orig.)

  8. Maxillary sinus marrow hyperplasia in sickle cell anemia.

    Science.gov (United States)

    Fernandez, M; Slovis, T L; Whitten-Shurney, W

    1995-11-01

    Marrow hyperplasia is a sequela of sickle cell anemia (SCA) and may be seen in the skull in children after 5 years of age [1]. The facial bones, except for the mandible and orbits, are usually not involved [1-3]. We report an unusual case of a 28-month-old black boy with SCA who presented with extensive marrow hyperplasia of the maxillary sinuses in addition to severe calvarial and mandibular changes. The imaging characteristics on CT (similar to other sites of marrow hyperplasia) and MR (low signal on both T1 and T2 sequences) should aid in making the correct diagnosis.

  9. Maxillary sinus marrow hyperplasia in sickle cell anemia

    Energy Technology Data Exchange (ETDEWEB)

    Fernandez, M. [Dept. of Imaging, Children`s Hospital of Michigan, Detroit, MI (United States); Slovis, T.L. [Dept. of Imaging, Children`s Hospital of Michigan, Detroit, MI (United States); Whitten-Shurney, W. [Dept. of Pediatrics, Children`s Hospital of Michigan, Detroit, MI (United States)

    1995-11-01

    Marrow hyperplasia is a sequela of sickle cell anemia (SCA) and may be seen in the skull in children after 5 years of age. The facial bones, except for the mandible and orbits, are usually not involved. We report an unusual case of a 28-month-old black boy with SCA who presented with extensive marrow hyperplasia of the maxillary sinuses in addition to severe calvarial and mandibular changes. The imaging characteristics on CT (similar to other sites of marrow hyperplasia) and MR (low signal on both T{sub 1} and T{sub 2} sequences) should aid in making the correct diagnosis. (orig.)

  10. Abnormal pulmonary function in adults with sickle cell anemia.

    Science.gov (United States)

    Klings, Elizabeth S; Wyszynski, Diego F; Nolan, Vikki G; Steinberg, Martin H

    2006-06-01

    Pulmonary complications of sickle cell anemia (Hb-SS) commonly cause morbidity, yet few large studies of pulmonary function tests (PFTs) in this population have been reported. PFTs (spirometry, lung volumes, and diffusion capacity for carbon monoxide [DLCO]) from 310 adults with Hb-SS were analyzed to determine the pattern of pulmonary dysfunction and their association with other systemic complications of sickle cell disease. Raw PFT data were compared with predicted values. Each subject was subclassified into one of five groups: obstructive physiology, restrictive physiology, mixed obstructive/restrictive physiology, isolated low DLCO, or normal. The association between laboratory data of patients with decreased DLCO or restrictive physiology and those of normal subjects was assessed by multivariate linear regression. Normal PFTs were present in only 31 of 310 (10%) patients. Overall, adults with Hb-SS were characterized by decreased total lung capacities (70.2 +/- 14.7% predicted) and DLCO (64.5 +/- 19.9%). The most common PFT patterns were restrictive physiology (74%) and isolated low DLCO (13%). Decreased DLCO was associated with thrombocytosis (p = 0.05), with hepatic dysfunction (elevated alanine aminotransferase; p = 0.07), and a trend toward renal dysfunction (elevated blood urea nitrogen and creatinine; p = 0.05 and 0.07, respectively). Pulmonary function is abnormal in 90% of adult patients with Hb-SS. Common abnormalities include restrictive physiology and decreased DLCO. Decreased DLCO may indicate more severe sickle vasculopathy characterized by impaired hepatic and renal function.

  11. Mechanism of vaso-occlusion in sickle cell anemia

    Science.gov (United States)

    Lei, Huan; Karniadakis, George

    2012-11-01

    Vaso-occlusion crisis is one of the key hallmark of sickle cell anemia. While early studies suggested that the crisis is caused by blockage of a single elongated cell, recent experimental investigations indicate that vaso-occlusion is a complex process triggered by adhesive interactions among different cell groups in multiple stages. Based on dissipative particle dynamics, a multi-scale model for the sickle red blood cells (SS-RBCs), accounting for diversity in both shapes and cell rigidities, is developed to investigate the mechanism of vaso-occlusion crisis. Using this model, the adhesive dynamics of single SS-RBC was investigated in arterioles. Simulation results indicate that the different cell groups (deformable SS2 RBCs, rigid SS4 RBCs, leukocytes, etc.) exhibit heterogeneous adhesive behavior due to the different cell morphologies and membrane rigidities. We further simulate the tube flow of SS-RBC suspensions with different cell fractions. The more adhesive SS2 cells interact with the vascular endothelium and further trap rigid SS4 cells, resulting in vaso-occlusion in vessels less than 15 μm . Under inflammation, adherent leukocytes may also trap SS4 cells, resulting in vaso-occlusion in even larger vessels. This work was supported by the NSF grant CBET-0852948 and the NIH grant R01HL094270.

  12. Deficiencies in school readiness skills of children with sickle cell anemia: a preliminary report.

    Science.gov (United States)

    Chua-Lim, C; Moore, R B; McCleary, G; Shah, A; Mankad, V N

    1993-04-01

    Patients with sickle cell anemia often express myriad clinical signs and symptoms that affect their life-style and academic performance. Certain psychoeducational and psychosocial factors have been shown to influence the academic achievement of older patients with sickle cell anemia. However, studies evaluating the school readiness skills of younger children have not been published. To determine whether sickle cell anemia delays preschool development in children aged 4 to 6 years, we studied 10 affected children and 10 normal subjects matched for age, sex, and race. School readiness was evaluated by the Pediatric Examination of Educational Readiness (PEER), which assess a child's performance in areas of developmental attainment such as visual input, verbal output, and short-term memory. The presence of associated movements (minor neurologic signs) and other areas of behavior such as selective attention, activity level, adaptive behavior, and processing efficiency are also observed. The children with sickle cell anemia scored significantly lower than their normal counterparts in several parameters of the PEER. The McCarthy Scales of Children's Abilities, a standardized psychometric test, showed that these children with sickle cell anemia were within the normal range of intelligence. Magnetic resonance imaging done on three children with sickle cell anemia who scored lowest on the PEER revealed no cerebrovascular infarcts. These preliminary studies demonstrate significant differences in school readiness skills between children with sickle cell anemia and normal subjects.

  13. Development of nanobiomarkers for use in sickle cell anemia

    International Nuclear Information System (INIS)

    Santos, Elen Goncalves dos

    2009-01-01

    Luminescent materials, such as the rare earth's complex, can be used as markers in cytology and immunology, being also used as luminescent bio markers, once the development of these nano materials create new possibilities to many fields, particularly in diagnostic medicine. Besides, it establishes one kind of fluorescent probes, for which there are no equivalent organic molecules. Due to its potential in market's application, the objective of this work was to develop luminescent materials, allowing the use of these super molecules of lanthanides as markers for the detection of Sickle Cell Disease (HbS). Six luminescent markers were developed and marked on rare's earth base. The main methodology used for the detection of HbS was fluoroimmunoassay, which is already used in investigation of enzymes, antibodies, cells, hormones, and so on. During this work, absorption's spectrum in the infrared by Fourier's Transform (FTIR) was also used to detect the HbS. The studied methods were applied for the diagnosis of this disease, which has genetic origin, very typical of the hemoglobin-pathology group and considered to be a public health problem in Brazil (ANVISA). When early diagnosed, Sickle Cell Disease (SCD) has a significant decrease in morbidity and mortality. Comparing the obtained results to the already known methodologies, it was possible to conclude that they are viable methods to detect HbS. Besides, when totally developed, these methods will contribute to the production of Sickle Cell Anemia's diagnostic, and they will have impact in Sao Paulo state's public measures, as well as in Brazil's ones. (author)

  14. Children with Sickle-Cell Anemia: Parental Relations, Parent-Child Relations, and Child Behavior.

    Science.gov (United States)

    Evans, Robert C.; And Others

    1988-01-01

    Investigated the influence of a child with sickle-cell anemia on parental affiliation, parent-child relationships, and parents' perception of their child's behavior. In the sickle-cell group, parents' interpersonal relationship suffered; parent-child relationship and child behavior correlated significantly; and single-parent families estimated…

  15. [Hydrocholecystis, unrecognized cause of painful abdominal crises in patients with sickle cell anemia].

    Science.gov (United States)

    Cabrol, S; Desjardin, F; Baruchel, S; Bégué, P; Cordier, M D; Lasfargues, G

    1985-12-01

    The first case of painful abdominal crisis caused by hydrops of the gallbladder during sickle cell disease is reported. The cholecystosonography allowed diagnosis and supervision in a 4 year-old black boy with sickle cell anemia. The persistence of hydrops led to cholecystectomy. Pathophysiology is discussed according to the other etiologies reported in the literature.

  16. Traditional Herbal Management of Sickle Cell Anemia: Lessons from Nigeria

    Directory of Open Access Journals (Sweden)

    Sunday J. Ameh

    2012-01-01

    Full Text Available Background. Patients in West Africa where sickle cell anemia (SCA is endemic have for ages been treated with natural products, especially herbs, as, is still the case in rural communities. Objective. In this paper we look closely at some of these herbs to see if there are any lessons to be learnt or clues to be found for optimizing the treatments based on them, as had been done in the case of NIPRISAN, which was developed from herbs in Nigeria based on Yoruba Medicine. Methods. Select publications on SCA, its molecular biology and pathology, and actual and experimental cases of herbal treatment were perused in search of molecular clues that can be linked to chemical constituents of the herbs involved. Results. The study revealed that during the last 2-3 decades, much progress was made in several aspects of SCA pharmacology, especially the approval of hydroxyurea. As for SCA herbalism, this paper revealed that antisickling herbs abound in West Africa and that the most promising may yet be found. Three new antisickling herbs (Entandrophragma utile, Chenopodium ambrosioides, and Petiveria alliacea were reported in May 2011. At NIPRD, where NIPRISAN was developed, three other recipes are currently awaiting development. Conclusion. The study raised the hope that the search in the Tropics for more effective herbal recipes for managing sickle cell anaemia will be more fruitful with time and effort.

  17. Traditional herbal management of sickle cell anemia: lessons from Nigeria.

    Science.gov (United States)

    Ameh, Sunday J; Tarfa, Florence D; Ebeshi, Benjamin U

    2012-01-01

    Background. Patients in West Africa where sickle cell anemia (SCA) is endemic have for ages been treated with natural products, especially herbs, as, is still the case in rural communities. Objective. In this paper we look closely at some of these herbs to see if there are any lessons to be learnt or clues to be found for optimizing the treatments based on them, as had been done in the case of NIPRISAN, which was developed from herbs in Nigeria based on Yoruba Medicine. Methods. Select publications on SCA, its molecular biology and pathology, and actual and experimental cases of herbal treatment were perused in search of molecular clues that can be linked to chemical constituents of the herbs involved. Results. The study revealed that during the last 2-3 decades, much progress was made in several aspects of SCA pharmacology, especially the approval of hydroxyurea. As for SCA herbalism, this paper revealed that antisickling herbs abound in West Africa and that the most promising may yet be found. Three new antisickling herbs (Entandrophragma utile, Chenopodium ambrosioides, and Petiveria alliacea) were reported in May 2011. At NIPRD, where NIPRISAN was developed, three other recipes are currently awaiting development. Conclusion. The study raised the hope that the search in the Tropics for more effective herbal recipes for managing sickle cell anaemia will be more fruitful with time and effort.

  18. Traditional Herbal Management of Sickle Cell Anemia: Lessons from Nigeria

    Science.gov (United States)

    Ameh, Sunday J.; Tarfa, Florence D.; Ebeshi, Benjamin U.

    2012-01-01

    Background. Patients in West Africa where sickle cell anemia (SCA) is endemic have for ages been treated with natural products, especially herbs, as, is still the case in rural communities. Objective. In this paper we look closely at some of these herbs to see if there are any lessons to be learnt or clues to be found for optimizing the treatments based on them, as had been done in the case of NIPRISAN, which was developed from herbs in Nigeria based on Yoruba Medicine. Methods. Select publications on SCA, its molecular biology and pathology, and actual and experimental cases of herbal treatment were perused in search of molecular clues that can be linked to chemical constituents of the herbs involved. Results. The study revealed that during the last 2-3 decades, much progress was made in several aspects of SCA pharmacology, especially the approval of hydroxyurea. As for SCA herbalism, this paper revealed that antisickling herbs abound in West Africa and that the most promising may yet be found. Three new antisickling herbs (Entandrophragma utile, Chenopodium ambrosioides, and Petiveria alliacea) were reported in May 2011. At NIPRD, where NIPRISAN was developed, three other recipes are currently awaiting development. Conclusion. The study raised the hope that the search in the Tropics for more effective herbal recipes for managing sickle cell anaemia will be more fruitful with time and effort. PMID:23198140

  19. Cornual pregnancy in a patient suffering from sickle cell anemia

    Directory of Open Access Journals (Sweden)

    Onilda Labrada Silva

    2015-10-01

    Full Text Available Nowadays, ectopic pregnancy is a pathological entity of great incidence, which is increased, among other things, by each time earlier sexual relations. Cornual pregnancy is as a result of the implantation of the blastocyte within the segment of the fallopian tube that goes into the uterus wall or between the tubal ostium and the proximal portion of the isthmus. This is a case of a cornual pregnancy in which the use of ultrasonography played an essential role for its diagnosis, since it is about a patient suffering from sickle cell anemia, where it was not possible to clinically eliminate the possibility of an occlusive vessel crisis as the cause of abdominal pain. Subtotal hysterectomy of the right tube was performed. The patient’s evolution is satisfactory.

  20. Abnormal Pulmonary Function in Adults with Sickle Cell Anemia

    Science.gov (United States)

    Klings, Elizabeth S.; Wyszynski, Diego F.; Nolan, Vikki G.; Steinberg, Martin H.

    2006-01-01

    Rationale: Pulmonary complications of sickle cell anemia (Hb-SS) commonly cause morbidity, yet few large studies of pulmonary function tests (PFTs) in this population have been reported. Objectives: PFTs (spirometry, lung volumes, and diffusion capacity for carbon monoxide [DLCO]) from 310 adults with Hb-SS were analyzed to determine the pattern of pulmonary dysfunction and their association with other systemic complications of sickle cell disease. Methods: Raw PFT data were compared with predicted values. Each subject was subclassified into one of five groups: obstructive physiology, restrictive physiology, mixed obstructive/restrictive physiology, isolated low DLCO, or normal. The association between laboratory data of patients with decreased DLCO or restrictive physiology and those of normal subjects was assessed by multivariate linear regression. Measurements and Main Results: Normal PFTs were present in only 31 of 310 (10%) patients. Overall, adults with Hb-SS were characterized by decreased total lung capacities (70.2 ± 14.7% predicted) and DlCO (64.5 ± 19.9%). The most common PFT patterns were restrictive physiology (74%) and isolated low DlCO (13%). Decreased DLCO was associated with thrombocytosis (p = 0.05), with hepatic dysfunction (elevated alanine aminotransferase; p = 0.07), and a trend toward renal dysfunction (elevated blood urea nitrogen and creatinine; p = 0.05 and 0.07, respectively). Conclusions: Pulmonary function is abnormal in 90% of adult patients with Hb-SS. Common abnormalities include restrictive physiology and decreased DLCO. Decreased DLCO may indicate more severe sickle vasculopathy characterized by impaired hepatic and renal function. PMID:16556694

  1. An Hepatic Abscess in a Patient With Sickle Cell Anemia.

    Science.gov (United States)

    Marolf, Marissa D; Chaudhary, Manu; Kaplan, Sheldon L

    2016-11-01

    We present a case of hepatic abscess in a transfusion-dependent 16-year-old patient with sickle cell disease. There have been 10 such cases in sickle cell disease patients reported, with the last report published greater than a decade ago. The diagnosis of hepatic abscess merits consideration in sickle cell disease patients presenting with fever without a source and/or abdominal pain.

  2. Frontal and orbital bone infarctions causing periorbital swelling in patients with sickle cell anemia

    International Nuclear Information System (INIS)

    Garty, I.; Koren, A.; Garzozi, H.

    1984-01-01

    Two cases of unilateral and bilateral periorbital hematomas occurred in patients with sickle cell anemia. The cause of periorbital swelling in these cases was found to be orbital and frontal bone infarctions, respectively, diagnosed by technetium Tc 99m medronate bone scintigraphy. To our knowledge, periorbital bone infarction, as a part of the differential diagnosis of periorbital hematoma and as part of the possible ocular manifestations in patients with sickle cell anemia, has not previously been described

  3. Functional and anatomical evidence of cerebral tissue hypoxia in young sickle cell anemia mice.

    Science.gov (United States)

    Cahill, Lindsay S; Gazdzinski, Lisa M; Tsui, Albert Ky; Zhou, Yu-Qing; Portnoy, Sharon; Liu, Elaine; Mazer, C David; Hare, Gregory Mt; Kassner, Andrea; Sled, John G

    2017-03-01

    Cerebral ischemia is a significant source of morbidity in children with sickle cell anemia; however, the mechanism of injury is poorly understood. Increased cerebral blood flow and low hemoglobin levels in children with sickle cell anemia are associated with increased stroke risk, suggesting that anemia-induced tissue hypoxia may be an important factor contributing to subsequent morbidity. To better understand the pathophysiology of brain injury, brain physiology and morphology were characterized in a transgenic mouse model, the Townes sickle cell model. Relative to age-matched controls, sickle cell anemia mice demonstrated: (1) decreased brain tissue pO 2 and increased expression of hypoxia signaling protein in the perivascular regions of the cerebral cortex; (2) elevated basal cerebral blood flow , consistent with adaptation to anemia-induced tissue hypoxia; (3) significant reduction in cerebrovascular blood flow reactivity to a hypercapnic challenge; (4) increased diameter of the carotid artery; and (5) significant volume changes in white and gray matter regions in the brain, as assessed by ex vivo magnetic resonance imaging. Collectively, these findings support the hypothesis that brain tissue hypoxia contributes to adaptive physiological and anatomic changes in Townes sickle cell mice. These findings may help define the pathophysiology for stroke in children with sickle cell anemia.

  4. MR angiographic and parenchymal evaluation of cerebral infaraction in sickle cell anemia

    International Nuclear Information System (INIS)

    Masaryk, T.J.; Masaryk, A.M.; Ross, J.S.; Modic, M.T.; Wiznitzer, M.; Berman, B.

    1989-01-01

    Cerebral infarction is an important complication of sickle cell anemia, believed to be related to large-vessel stenoses/occlusion and/or capillary/venous sickling resulting in thrombosis. Identification of these complications (especially large-vessel arterial disease) is important in selecting patients for transfusion therapy. The purpose of this study was to determine the suitability of combined three-dimensional Fourier transform time-of-flight MR angiographic and parenchymal T2-weighted spin-echo examinations for evaluation of central nervous system (CNS) complications of sickle cell anemia. Seven patients (age range, 5-14 years) were evaluated. Five had documented strokes while two had symptoms resembling those of transient ischemic attack. The preliminary data indicate that combined MR angiographic and parenchymal studies are capable of identifying those patients with sickle cell anemia complicated by large-vessel CNS occlusive disease and cerebral infarction and can be used as a noninvasive guide to therapy

  5. A Phase Ib open label, randomized, safety study of SANGUINATE™ in patients with sickle cell anemia

    Directory of Open Access Journals (Sweden)

    Hemant Misra

    Full Text Available Abstract Background: Treatment of sickle cell anemia is a challenging task and despite the well understood genetic and biochemical pathway of sickle hemoglobin, current therapy continues to be limited to the symptomatic treatment of pain, supplemental oxygen, antibiotics, red blood cell transfusions and hydroxyurea. SANGUINATE is a carbon monoxide releasing molecule and oxygen transfer agent under clinical development for the treatment of sickle cell anemia and comorbidities. Methods: An open-label randomized Phase Ib study was performed in adult sickle cell anemia patients. Two dose levels of SANGUINATE were compared to hydroxyurea in 24 homozygotes for Hb SS. Twelve subjects received either a low dose (160 mg/kg of SANGUINATE or 15 mg/kg hydroxyurea. Another 12 subjects received either a high dose (320 mg/kg of SANGUINATE or 15 mg/kg hydroxyurea. The primary endpoint was the safety of SANGUINATE versus hydroxyurea in sickle cell anemia patients. Secondary endpoints included determination of the plasma pharmacokinetics and assessment of hematologic measurements. Results: Musculoskeletal related adverse events were the most common. Transient troponin I levels increased in three patients, one of whom had an increase in tricuspid regurgitant velocity; however, no clinical signs were noted. Following an assessment of vital signs, tricuspid regurgitant velocity, electrocardiogram, serum biochemistry, hematology, urinalysis, and analysis of reported adverse events, SANGUINATE was found to be safe in stable sickle cell anemia patients. Conclusions: The clinical trial met its primary objective of demonstrating an acceptable safety profile for SANGUINATE in patients with sickle cell anemia. This trial established the safety of SANGUINATE at both dose levels and permitted its advance to Phase II trials.

  6. Relative deformability of red blood cells in sickle cell trait and sickle cell anemia by trapping and dragging

    Science.gov (United States)

    Solomon, Rance; Cooper, James; Welker, Gabriel; Aguilar, Elaura; Flanagan, Brooke; Pennycuff, Chelsey; Scott, David; Farone, Anthony; Farone, Mary; Erenso, Daniel; Mushi, Robert; del Pilar Aguinaga, Maria

    2013-06-01

    Genetic mutation of the β-globin gene or inheritance of this mutated gene changes the chemical composition of the oxygen-carrying hemoglobin molecule that could lead to either the heterozygote genotype, resulting in sickle cell trait (SCT), or the homozygote genotype, resulting in sickle cell anemia (SCA). These mutations could affect the reversible elastic deformations of the red blood cells (RBCs) which are vital for biological functions. We have investigated this effect by studying the differences in the deformability of RBCs from blood samples of an individual with SCT and an untreated patient with SCA along with hemoglobin quantitation of each blood sample. Infrared 1064 nm laser trap force along with drag shear force are used to induce deformation in the RBCs. Ultra2-High Performance Liquid Chromatography (UHPLC) is used for the hemoglobin quantitation.

  7. Therapeutic strategies in Sickle Cell Anemia: The past present and future.

    Science.gov (United States)

    Fernandes, Queenie

    2017-06-01

    Sickle Cell Anemia (SCA) was one of the first hemoglobinopathies to be discovered. It is distinguished by the mutation-induced expression of a sickle cell variant of hemoglobin (HbS) that triggers erythrocytes to take a characteristic sickled conformation. The complex physiopathology of the disease and its associated clinical complications has initiated multi-disciplinary research within its field. This review attempts to lay emphasis on the evolution, current standpoint and future scope of therapeutic strategies in SCA. Copyright © 2017 Elsevier Inc. All rights reserved.

  8. Safety of Pegfilgrastim (Neulasta in Patients with Sickle Cell Trait/Anemia

    Directory of Open Access Journals (Sweden)

    Pashtoon Murtaza Kasi

    2013-01-01

    Full Text Available Pegfilgrastim (Neulasta is a recombinant filgrastim (human granulocyte colony-stimulating factor (G-CSF attached to a polyethylene glycol (PEG molecule and is given as part of chemotherapy regimens that are associated with significant myelosuppression and risk for febrile neutropenia. Prescribing information available on manufacturer’s website for the drug warns us about possible severe sickle cell crises related to the medication but does not report the actual incidence or the use in patients with sickle cell trait. Caution is advised when using it in patients with sickle cell disease. Here we present a case of a Caucasian female with known sickle cell trait (SCT with no prior complications who developed a presumed sickle cell crisis after getting Neulasta, as a part of the chemotherapy regimen used to treat her breast cancer. Based on our literature review, this appears to be the first case report of a patient with SCT developing a sickle cell crisis with the pegylated form of recombinant filgrastim. Given the dearth of literature regarding the use of G-CSF and its related pegylated forms in patients with sickle cell anemia and sickle cell trait, a discussion of potential mechanisms and review of current literature and guidelines is also presented.

  9. Transcranial Doppler Screening Among Children and Adolescents With Sickle Cell Anemia.

    Science.gov (United States)

    Reeves, Sarah L; Madden, Brian; Freed, Gary L; Dombkowski, Kevin J

    2016-06-01

    With transcranial Doppler (TCD) screening, we can identify children and adolescents with sickle cell anemia who are at the highest risk of stroke. An accurate claims-based method for identifying children and adolescents with sickle cell anemia was recently developed and validated that establishes the necessary groundwork to enable large population-based assessments of health services utilization among children and adolescents with sickle cell anemia using administrative claims data. To assess the feasibility of using administrative claims data to identify and describe the receipt of TCD screening among children and adolescents with sickle cell anemia and to characterize opportunities for intervention. Retrospective cross-sectional study using Medicaid claims data from 2005 to 2010. Medicaid claims data were obtained from the following states: Florida, Illinois, Louisiana, Michigan, South Carolina, and Texas. Children and adolescents 2 to 16 years of age with sickle cell anemia were identified by the presence of 3 or more Medicaid claims with a diagnosis of sickle cell anemia within a calendar year (2005-2010). A total of 4775 children and adolescents contributed 10 787 person-years throughout the study period. Data were analyzed in 2015. A subset of children and adolescents enrolled for 2 or more consecutive years was identified to examine potential predictors of TCD screening, which included age, sex, previous receipt of TCD screening, state of residence, and health services utilization (well-child visits, outpatient visits, emergency department visits, and inpatient visits). Receipt of TCD screening was assessed by year and state. Using logistic regression with generalized estimating equations, we included associated predictors in a multivariable model to estimate odds of TCD screening. For a total of 4775 children and adolescents 2 to 16 years of age, TCD screening rates increased over the 6-year study period from 22% to 44% (P sickle cell anemia (50%) was

  10. Quantifying the abnormal hemodynamics of sickle cell anemia

    Science.gov (United States)

    Lei, Huan; Karniadakis, George

    2012-02-01

    Sickle red blood cells (SS-RBC) exhibit heterogeneous morphologies and abnormal hemodynamics in deoxygenated states. A multi-scale model for SS-RBC is developed based on the Dissipative Particle Dynamics (DPD) method. Different cell morphologies (sickle, granular, elongated shapes) typically observed in deoxygenated states are constructed and quantified by the Asphericity and Elliptical shape factors. The hemodynamics of SS-RBC suspensions is studied in both shear and pipe flow systems. The flow resistance obtained from both systems exhibits a larger value than the healthy blood flow due to the abnormal cell properties. Moreover, SS-RBCs exhibit abnormal adhesive interactions with both the vessel endothelium cells and the leukocytes. The effect of the abnormal adhesive interactions on the hemodynamics of sickle blood is investigated using the current model. It is found that both the SS-RBC - endothelium and the SS-RBC - leukocytes interactions, can potentially trigger the vicious ``sickling and entrapment'' cycles, resulting in vaso-occlusion phenomena widely observed in micro-circulation experiments.

  11. Angina pectoris in a child with sickle cell anemia.

    Science.gov (United States)

    Hamilton, W; Rosenthal, A; Berwick, D; Nadas, A S

    1978-06-01

    A 7-year-old black boy with sickle cell disease, Wolff-Parkinson-White syndrome, mild left ventricular dysfunction, and normal coronary arteries developed angina pectoris five months after cessation of hypertransfusion therapy. Exercise-induced ECG ST segment depression associated with angina disappeared following transfusion therapy.

  12. Stroke in sickle cell anemia: New concepts in diagnosis and ...

    African Journals Online (AJOL)

    Stroke is a devastating and potentially fatal complication of sickle cell disease. The highest incidence of cerebrovascular disease is in the first 10 years and especially between 2 to 5 years. Two types of stroke occur in these patients – infarctive and hemorrhagic strokes. While infarctive strokes occur frequently in children, ...

  13. Parent education and biologic factors influence on cognition in sickle cell anemia

    Science.gov (United States)

    King, Allison A.; Strouse, John J.; Rodeghier, Mark J.; Compas, Bruce E.; Casella, James F.; McKinstry, Robert C.; Noetzel, Michael J.; Quinn, Charles T.; Ichord, Rebecca; Dowling, Michael M.; Miller, J. Philip; DeBaun, Michael R.

    2015-01-01

    Children with sickle cell anemia have a high prevalence of silent cerebral infarcts (SCIs) that are associated with decreased full-scale intelligence quotient (FSIQ). While the educational attainment of parents is a known strong predictor of the cognitive development of children in general, the role of parental education in sickle cell anemia along with other factors that adversely affect cognitive function (anemia, cerebral infarcts) is not known. We tested the hypothesis that both the presence of SCI and parental education would impact FSIQ in children with sickle cell anemia. A multicenter, cross-sectional study was conducted in 19 US sites of the Silent Infarct Transfusion Trial among children with sickle cell anemia, age 5–15 years. All were screened for SCIs. Participants with and without SCI were administered the Wechsler Abbreviated Scale of Intelligence. A total of 150 participants (107 with and 43 without SCIs) were included in the analysis. In a multivariable linear regression model for FSIQ, the absence of college education for the head of household was associated with a decrease of 6.2 points (P=0.005); presence of SCI with a 5.2 point decrease (P=0.017); each $1000 of family income per capita with a 0.33 point increase (P=0.023); each increase of 1 year in age with a 0.96 point decrease (P=0.023); and each 1% (absolute) decrease in hemoglobin oxygen saturation with 0.75 point decrease (P=0.030). In conclusion, FSIQ in children with sickle cell anemia is best accounted for by a multivariate model that includes both biologic and socioenvironmental factors. PMID:24123128

  14. Estimating Rates of Psychosocial Problems in Urban and Poor Children with Sickle Cell Anemia.

    Science.gov (United States)

    Barbarin, Oscar A.; And Others

    1994-01-01

    Examined adjustment problems for children and adolescents with sickle cell anemia (SCA). Parents provided information on social, emotional, academic, and family adjustment of 327 children with SCA. Over 25% of children had emotional adjustment problems in form of internalizing symptoms (anxiety and depression); at least 20% had problems related to…

  15. Mortality in children, adolescents and adults with sickle cell anemia in Rio de Janeiro, Brazil.

    Science.gov (United States)

    Lobo, Clarisse Lopes de Castro; Nascimento, Emilia Matos do; Jesus, Leonardo José Carvalho de; Freitas, Thiago Gotelip de; Lugon, Jocemir Ronaldo; Ballas, Samir K

    To determine the mortality rate of children, adolescents and adults with sickle cell anemia in Rio de Janeiro, Brazil. The number of deaths, the mortality rate and the causes of deaths in patients with sickle cell anemia who were treated and followed up at our institution for 15 years were determined and compared to data available for the Brazilian population. The overall number of deaths was 281 patients with a mortality rate of 16.77%. Survival probability was significantly higher in females. The number of deaths and the mortality rate were age-specific with a significant increase in the 19- to 29-year-old age group. The remaining life expectancy of the patients with sickle cell anemia was less than that of Brazilians at large. The gap between the two was about 20 years for ages between one and five years with this gap decreasing to ten years after the age of 65 years. The most common causes of death were infection, acute chest syndrome, overt stroke, organ damage and sudden death during painful crises. To the best of our knowledge, this is the first Brazilian study in a single institution in Rio de Janeiro; the mortality rate was 18.87% among adult patients with sickle cell anemia. The mortality rates in children and adults are higher than those reported in developed countries of the northern hemisphere. Copyright © 2017 Associação Brasileira de Hematologia, Hemoterapia e Terapia Celular. Published by Elsevier Editora Ltda. All rights reserved.

  16. Oxidant-antioxidant status in Egyptian children with sickle cell anemia: a single center based study

    Directory of Open Access Journals (Sweden)

    Mona Kamal El-Ghamrawy

    2014-05-01

    Conclusion: children with sickle cell anemia have chronic oxidative stress that may result inincreased VOC, and decreased serum nitrite may be associated with increases in VOC frequency. A novel finding in this study is the decrease in PON level in these patients, which is an interesting subject for further research.

  17. Silent cerebral infarction, income, and grade retention among students with sickle cell anemia

    Science.gov (United States)

    King, Allison A.; Rodeghier, Mark J.; Panepinto, Julie Ann; Strouse, John J.; Casella, James F.; Quinn, Charles T.; Dowling, Michael M.; Sarnaik, Sharada A.; Thompson, Alexis A.; Woods, Gerald M.; Minniti, Caterina P.; Redding-Lallinger, Rupa C.; Kirby-Allen, Melanie; Kirkham, Fenella J.; McKinstry, Robert; Noetzel, Michael J.; White, Desiree A.; Kwiatkowski, Janet K.; Howard, Thomas H.; Kalinyak, Karen A.; Inusa, Baba; Rhodes, Melissa M.; Heiny, Mark E.; Fuh, Ben; Fixler, Jason M.; Gordon, Mae O.; DeBaun, Michael R.

    2014-01-01

    Children with sickle cell anemia have a higher-than-expected prevalence of poor educational attainment. We test two key hypotheses about educational attainment among students with sickle cell anemia, as measured by grade retention and use of special education services: (1) lower household per capita income is associated with lower educational attainment; (2) the presence of a silent cerebral infarct is associated with lower educational attainment. We conducted a multicenter, cross-sectional study of cases from 22 U.S. sites included in the Silent Infarct Transfusion Trial. During screening, parents completed a questionnaire that included sociodemographic information and details of their child’s academic status. Of 835 students, 670 were evaluable; 536 had data on all covariates and were used for analysis. The students’ mean age was 9.4 years (range: 5–15) with 52.2% male; 17.5% of students were retained one grade level and 18.3% received special education services. A multiple variable logistic regression model identified that lower household per capita income (odds ratio [OR] of quartile 1 = 6.36, OR of quartile 2 = 4.7, OR of quartile 3 = 3.87; P = 0.001 for linear trend), age (OR = 1.3; P sickle cell anemia, household per capita income is associated with grade retention, whereas the presence of a silent cerebral infarct is not. Future educational interventions will need to address both the medical and socioeconomic issues that affect students with sickle cell anemia. PMID:25042018

  18. Case report 558: Multicentric Klebsiella pneumoniae (Friedlaenders bacillus) osteomyelitis in sickle cell anemia

    International Nuclear Information System (INIS)

    Malpani, A.R.; Sundaram, M.; Ramani, S.K.

    1989-01-01

    This patient represents a unique combination of multicentric osteomyelitis due to Klebsiella pneumoniae, lesions in the skull, pathological fracture of a long bone and no evidence of pulmonary disease. That Klebsiella pneumoniae osteomyelitis can occur in sickle cell anemia should be considered when such bone changes are seen. The remarkable resolution on conservative management also needs to be noted. (orig./GDG)

  19. Protein C and antithrombin levels in patients with sickle cell anemia ...

    African Journals Online (AJOL)

    Background: Alterations in the components of hemostasis, namely platelet function, the procoagulant, anticoagulant, and the fibrinolytic systems, are observed in sickle cell anemia (SCA) and are in favor of a procoagulant phenotype. Therefore, study of protein C and antithrombin (AT) levels in patients with SCA in steady ...

  20. Coagulation profile of children with sickle cell anemia in steady state ...

    African Journals Online (AJOL)

    Background: Sickle cell anemia is associated with a hypercoagulable state that may lead to alterations in a coagulation profile. Measurements of coagulation factors are known to have some predictive value for clinical outcome. Objectives: To determine the coagulation profile of children with SCA in steady state and crisis ...

  1. Cerebral lesions on 7 tesla MRI in patients with sickle cell anemia

    NARCIS (Netherlands)

    van der Land, Veronica; Zwanenburg, Jaco J. M.; Fijnvandraat, Karin; Biemond, Bart J.; Hendrikse, Jeroen; Mutsaerts, Henri J. M. M.; Visser, Fredy; Wardlaw, Joanna M.; Nederveen, Aart J.; Majoie, Charles B. L. M.; Nederkoorn, Paul J.

    2015-01-01

    Patients with sickle cell anemia (SCA) are at a high risk to develop cerebral damage. Most common are silent cerebral infarctions (SCIs), visible as white matter hyperintensities (WMHs) on MRI in a patient without neurological deficits. The etiology of SCIs remains largely unclear. In addition,

  2. Oxidant-antioxidant status in Egyptian children with sickle cell anemia: a single center based study.

    Science.gov (United States)

    El-Ghamrawy, Mona Kamal; Hanna, Wagdi Maurice; Abdel-Salam, Amina; El-Sonbaty, Marwa M; Youness, Eman R; Adel, Ahmed

    2014-01-01

    the present study was conducted to investigate the oxidant-antioxidant status in Egyptian children with sickle cell anemia. the serum levels of total antioxidant capacity (TAO), paraoxonase (PON), vitamin E, nitrite, and malondialdehyde (MDA) were measured in 40 steady state children with homozygous sickle cell anemia (24 males and 16 females) and 20 apparently healthy age- and gender-matched controls. mean serum TAO, PON, vitamin E, and nitrite levels were significantly lower in the group with sickle cell anemia, whereas mean serum MDA was significantly higher in these children compared to controls. No significant differences in mean levels of TAO, PON, nitrite, vitamin E, and MDA were found in sickle cell anemia patients receiving hydroxyurea when compared with those not receiving hydroxyurea. A significant negative correlation between serum nitrite and the occurrence of vaso-occlusive crises (VOC) was observed (r=-0.3, p=0.04). PON level was found to be positively correlated with patients' weight and BMI (r=-0.4, p=0.01; r=-0.7, panemia have chronic oxidative stress that may result in increased VOC, and decreased serum nitrite may be associated with increases in VOC frequency. A novel finding in this study is the decrease in PON level in these patients, which is an interesting subject for further research. Copyright © 2014 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.

  3. Comparative Analysis of Pain Behaviours in Humanized Mouse Models of Sickle Cell Anemia.

    Directory of Open Access Journals (Sweden)

    Jianxun Lei

    Full Text Available Pain is a hallmark feature of sickle cell anemia (SCA but management of chronic as well as acute pain remains a major challenge. Mouse models of SCA are essential to examine the mechanisms of pain and develop novel therapeutics. To facilitate this effort, we compared humanized homozygous BERK and Townes sickle mice for the effect of gender and age on pain behaviors. Similar to previously characterized BERK sickle mice, Townes sickle mice show more mechanical, thermal, and deep tissue hyperalgesia with increasing age. Female Townes sickle mice demonstrate more hyperalgesia compared to males similar to that reported for BERK mice and patients with SCA. Mechanical, thermal and deep tissue hyperalgesia increased further after hypoxia/reoxygenation (H/R treatment in Townes sickle mice. Together, these data show BERK sickle mice exhibit a significantly greater degree of hyperalgesia for all behavioral measures as compared to gender- and age-matched Townes sickle mice. However, the genetically distinct "knock-in" strategy of human α and β transgene insertion in Townes mice as compared to BERK mice, may provide relative advantage for further genetic manipulations to examine specific mechanisms of pain.

  4. Hydroxyurea therapy in sickle cell anemia patients aids to maintain oral fungal colonization balance.

    Science.gov (United States)

    Salvia, Ana Carolina Rodrigues Danzi; Figueiredo, Maria Stella; Braga, Josefina Aparecida Pellegrini; Pereira, Daniel Freitas Alves; Brighenti, Fernanda Lourenção; Koga-Ito, C Y

    2013-08-01

    The aim of this study was to evaluate the frequency of Candida species and presence of lesions in the oral cavity of patients with sickle cell anemia (SS). The study included 30 patients diagnosed with sickle cell anemia and taking hydroxyurea for at least 90 days (SS/HU+); and 39 patients with sickle cell anemia and without hydroxyurea therapy (SS/HU-). Two control groups were constituted by healthy individuals matched to the test groups in age, gender, and oral conditions (C/HU+ for SS/HU+ and C/HU- for SS/HU-). Oral clinical examination and anamnesis were performed. Yeasts were collected by oral rinses and identified by API system. Antifungal susceptibility evaluation was performed according to the CLSI methodology. Data obtained for microorganisms counts were compared by Student's t test (SS/HU+ vs. C/HU+ and SS/HU- vs. C/HU-) using MINITAB for Windows 1.4. Significance level was set at 5%. No oral candidosis lesions were detected. Significant differences in yeasts counts were observed between SS/HU- group and the respective control, but there were no differences between SS/HU+ and C/HU+. Candida albicans was the most prevalent species in all groups. Candida famata was observed both in SS and control groups. Candida dubliniensis, Candida glabrata, Candida krusei, Candida tropicalis, Candida pelliculosa, and Candida parapsilosis were observed only in SS groups. Most strains were susceptible to all antifungal agents. Hydroxyurea therapy seems to decrease candidal counts and resistance rate in sickle cell anemia patients. However, further studies should be conducted in the future to confirm this finding. Hydroxyurea therapy in sickle cell anemia patients maintains fungal species balance in oral cavity. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  5. Oxidant-antioxidant status in Egyptian children with sickle cell anemia: a single center based study

    Directory of Open Access Journals (Sweden)

    Mona Kamal El-Ghamrawy

    Full Text Available OBJECTIVE:the present study was conducted to investigate the oxidant-antioxidant status in Egyptian children with sickle cell anemia.METHODS:the serum levels of total antioxidant capacity (TAO, paraoxonase (PON, vitamin E, nitrite, and malondialdehyde (MDA were measured in 40 steady state children with homozygous sickle cell anemia (24 males and 16 females and 20 apparently healthy age- and gender-matched controls.RESULTS:mean serum TAO, PON, vitamin E, and nitrite levels were significantly lower in the group with sickle cell anemia, whereas mean serum MDA was significantly higher in these children compared to controls. No significant differences in mean levels of TAO, PON, nitrite, vitamin E, and MDA were found in sickle cell anemia patients receiving hydroxyurea when compared with those not receiving hydroxyurea. A significant negative correlation between serum nitrite and the occurrence of vaso-occlusive crises (VOC was observed (r = -0.3, p = 0.04. PON level was found to be positively correlated with patients' weight and BMI (r = -0.4, p = 0.01; r = -0.7, p < 0.001, respectively, but not with frequency of VOC. The area under the curve of serum nitrite in predicting occurrence of VOC was 0.782, versus 0.701 for PON, and 0.650 for TAO (p = 0.006. Serum MDA was not correlated with nitrite, PON, TAO, or vitamin E levels. No significant correlations were detected between serum nitrite and hemoglobin or antioxidant enzymes.CONCLUSION:children with sickle cell anemia have chronic oxidative stress that may result in increased VOC, and decreased serum nitrite may be associated with increases in VOC frequency. A novel finding in this study is the decrease in PON level in these patients, which is an interesting subject for further research.

  6. 2015 Clinical trials update in sickle cell anemia

    Science.gov (United States)

    Archer, Natasha; Galacteros, Frédéric; Brugnara, Carlo

    2017-01-01

    Polymerization of HbS and cell sickling are the prime pathophysiological events in sickle cell disease (SCD). Over the last 30 years, a substantial understanding at the molecular level has been acquired on how a single amino acid change in the structure of the beta chain of hemoglobin leads to the explosive growth of the HbS polymer and the associated changes in red cell morphology. O2 tension and intracellular HbS concentration are the primary molecular drivers of this process, and are obvious targets for developing new therapies. However, polymerization and sickling are driving a complex network of associated cellular changes inside and outside of the erythrocyte, which become essential components of the inflammatory vasculopathy and result in a large range of potential acute and chronic organ damages. In these areas, a multitude of new targets for therapeutic developments have emerged, with several ongoing or planned new therapeutic interventions. This review outlines the key points of SCD pathophysiology as they relate to the development of new therapies, both at the pre-clinical and clinical levels. PMID:26178236

  7. Sickle cell test

    Science.gov (United States)

    ... cell anemia Sickle cell trait Iron deficiency or blood transfusions within the past 3 months can cause a " ... slight risk any time the skin is broken) Alternative Names Sickledex; Hgb S test Images Red blood cells, sickle cell Red blood cells, multiple sickle ...

  8. [Aplastic crisis in sickle cell anemia induced by parvovírus B19

    Science.gov (United States)

    Borsato, M L; Bruniera, P; Cusato, M P; Spewien, K E; Durigon, E L; Toporovski, J

    2000-01-01

    PURPOSE: Transient aplastic crisis is reported in an eight-month old child with sickle cell anemia and acute B19 parvovirus infection. This fact is uncommon in this age. PATIENT AND METHODS: The authors review the literature and describe a clinical case of an eight-month old child with sickle cell anemia presented with profound anemia and reticulocytopenia. His peripheral blood was analyzed for parvovirus B19 using the polymerase chain reaction (PCR), and for anti B19 immunoglobulin Ig M, and Ig G by enzyme-linked immunosorbent assay (ELISA). RESULTS: An eight-month old child with sickle cell anemia was admitted to the hospital with fever and profound anemia (HB = 3.8g/ dl) and reticulocytopenia (2%). A diagnosis of aplastic crisis was established. The results indicate that Ig M and PCR were positive and Ig G negative. The patient needed erytrocyte transfusion, and was discharged on hospital day 4. CONCLUSIONS: The clinical and laboratory features indicate that human parvovirus B19 was the etiologic agent of an aplastic crisis in an eight-month old child. According to the international literature this event is uncommon for this age; in addition, this is the first time it appears in the Brazilian literature.

  9. Fetal hemoglobin in sickle cell anemia: The Arab-Indian haplotype and new therapeutic agents.

    Science.gov (United States)

    Habara, Alawi H; Shaikho, Elmutaz M; Steinberg, Martin H

    2017-11-01

    Fetal hemoglobin (HbF) has well-known tempering effects on the symptoms of sickle cell disease and its levels vary among patients with different haplotypes of the sickle hemoglobin gene. Compared with sickle cell anemia haplotypes found in patients of African descent, HbF levels in Saudi and Indian patients with the Arab-Indian (AI) haplotype exceed that in any other haplotype by nearly twofold. Genetic association studies have identified some loci associated with high HbF in the AI haplotype but these observations require functional confirmation. Saudi patients with the Benin haplotype have HbF levels almost twice as high as African patients with this haplotype but this difference is unexplained. Hydroxyurea is still the only FDA approved drug for HbF induction in sickle cell disease. While most patients treated with hydroxyurea have an increase in HbF and some clinical improvement, 10 to 20% of adults show little response to this agent. We review the genetic basis of HbF regulation focusing on sickle cell anemia in Saudi Arabia and discuss new drugs that can induce increased levels of HbF. © 2017 Wiley Periodicals, Inc.

  10. Trichobezoar in a patient with sickle cell anemia: A pain crisis is not always to blame

    Directory of Open Access Journals (Sweden)

    M.S. El-Mekkawy

    2014-09-01

    Full Text Available Trichobezoar, a ball of hair in the stomach, is an under-diagnosed problem that should be considered in patients with an upper abdominal pain and mass, weight loss, and bowel obstruction especially in young girls with underlying psychiatric disorder or mental retardation. Patients with sickle cell disease are susceptible to experiencing pica including, in rare occasions, trichophagia that could lead to formation of a trichobezoar, resulting in serious abdominal complications which are likely to be confused with ordinary vaso-occlusive pain crises. Here we present the rare case of gastric trichobezoar in a 9 year old girl with sickle cell anemia.

  11. Cholecystectomy in sickle cell anemia patients : Perioperative outcome of 364 cases from the national preoperative transfusion study

    NARCIS (Netherlands)

    Haberkern, CM; Neumayr, LD; Orringer, EP; Earles, AN; Robertson, SM; Abboud, MR; Koshy, M; Idowu, O; Vichinsky, EP; Black, D.

    1997-01-01

    Cholecystectomy is the most common surgical procedure performed in sickle cell anemia (SCA) patients. We investigated the effects of transfusion and surgical method on perioperative outcome. A total of 364 patients underwent cholecystectomy: group 1 (randomized to aggressive transfusion) 110

  12. Zinc and antioxidant vitamin deficiency in patients with severe sickle cell anemia

    International Nuclear Information System (INIS)

    Hasanato, R.M. W.

    2006-01-01

    Patients with severe sickle cell anemia (SCA) have a higher potential for oxidative damage due to chronic redox imbalance in red blood cells that often leads to hemolysis, endothelial injury and recurrent vaso-occlusive episodes. This study evaluated the plasma levels of Vitamin A, C and E as indicators of antioxidants status. In addition, serum levels of zinc and copper were also estimated. Twenty-five adult patients with severe sickle cell anemia (12 males and 13 females aged 29.72+-12.94 years) and 25 matched controls were studied. Plasma levels of vitamin A, C and E were measured by HPLC technique. Serum zinc and copper levels were measured by atomic absorption spectrometry. There was significant decrease in plasma levels of vitamins A, C and E and in serum levels of zinc in patients with SCA as compared with controls (P<0.0001). Serum copper levels were significantly elevated compared with controls (P<0.0001). These findings emphasized the significant deficiencies of the antioxidant vitamins A, C and E and the trace element zinc along with the significant elevation of serum copper in patients with severe sickle cell disease. Further studies are needed to find out whether supplementation of antioxidant vitamins and zinc may ameliorate some sickle cell disease complications. (author)

  13. Asymptomatic multinodular splenoma (splenic hamartoma in a child with sickle cell anemia

    Directory of Open Access Journals (Sweden)

    Elenga N

    2017-07-01

    Full Text Available Narcisse Elenga,1 Sylvain Labbé,2 Nicolas Leduc,2 Anicet Sika,1 Emma Cuadro,1 Laurence Long,1 Falucar Njuieyon,1 Rémi Kom-Tchameni,1 Thierry Basset1 1Department of Pediatrics and Pediatric Surgery, Pediatric Medicine and Surgery, 2Pathological Anatomy Department, Cayenne Hospital, Cayenne Cedex, French Guiana Abstract: Splenoma is a rare and benign malformation usually fortuitously diagnosed during imaging, surgery or, unfortunately, at autopsy. Although splenoma was first described in 1861, its association with hematological pathology is a very unusual condition in children. We report the case of an asymptomatic splenoma in an 8-year-old boy with sickle cell anemia, whose diagnosis was confirmed after conventional splenectomy. Keywords: multinodular splenoma, child, sickle cell anemia, conventional splenectomy

  14. Radiological abnormalities of the skeleton in patients with sickle-cell anemia

    International Nuclear Information System (INIS)

    Ben Dridi, M.F.; Oumaya, A.; Gastli, H.; Doggaz, C.; Bousnina, S.; Fattoum, S.; Ben Osman, R.; Gharbi, H.A.

    1987-01-01

    The way in which bones are affected in cases of sickle-cell anemia is well known. Nevertheless, advances in treatment and in methods of transfusion mean that we are increasingly seeing cases of older patients with this disease. A retrospective analysis of 222 cases of sickle-cell anemia demonstrates the radiological appearance of the skeleton in the disease and reveals the various bone segments which are particularly vulnerable at certain periods of life. Correlation of X-rays permits the discovery of lesions which are not clinically apparent. The frequency and characteristics of epiphyseal osteonecrosis and osteitis are studied. Aggravation of the bone lesions when corticoids are administered poses the problem of differential diagnosis of the disease, especially in comparison with rheumatic fever. (orig.)

  15. Sociodemographic aspects and quality of life of patients with sickle cell anemia

    Science.gov (United States)

    dos Santos, Juliana Pereira; Gomes Neto, Mansueto

    2013-01-01

    Background Sickle cell anemia is a chronic inherited disease, widespread in the Brazilian population due to the high degree of miscegenation in the country. Despite the high prevalence, there are few studies describing the characteristics of patients and the impact of the disease on quality of life. Objective To describe the sociodemographic profile and the impact of the disease on the quality of life of sickle cell anemia patients. Methods Over 18-year-old patients with sickle cell anemia who attended meetings held by the Associação Baiana de Portadores de Doenças Falciformes, an association for sickle cell anemia patients in Bahia, were interviewed. Sociodemographic data were collected and the generic the Medical Outcomes 36-Item Short-Form Health Survey (SF-36) questionnaire, which is used to assess quality of life, was applied. The analysis of the descriptive statistics was performed using the Statistics Program for the Social Sciences software. Results Thirty-two mostly female (65.6%) patients were interviewed. The mean age was 31.9 ± 12.67 years, 50.0% considered themselves black, 68.8% did not work and 87.5% had per capita income below the poverty line (up to one and a half minimum wages). The SF-36 scores were: limitation by physical aspects 26.56, functional capacity 28.9, emotional aspects 30.20, social aspects, 50.0, pain 50.31, mental health 54.62, general health status 56.09 and vitality 56.71. This shows that the disease has a huge impact on the patients' quality of life. Conclusion The disease interferes in the working capacity of individuals, who mostly have low incomes and impaired access to healthcare services and significantly impacts on their quality of life. PMID:24106440

  16. Aspectos moleculares da anemia falciforme Molecular aspects for sickle cell anemia

    Directory of Open Access Journals (Sweden)

    Gentil Claudino de Galiza Neto

    2003-01-01

    Full Text Available No presente artigo abordaram-se vários aspectos relacionados à natureza molecular da anemia falciforme, desordem hematológica de caráter hereditário que acomete expressivo número de indivíduos em várias regiões do mundo. As pesquisas realizadas em torno desta patologia da hemácia, ao longo de quase um século, a partir de 1910, cooperaram para a criação de um novo e importante segmento da ciência, denominado biologia molecular. A descoberta dos polimorfismos da mutação (GAT->GTG no gene que codifica a cadeia beta da hemoglobina, originando diferentes haplótipos da doença, permitiu um melhor e mais amplo conhecimento em torno da heterogeneidade clínica nos pacientes falcêmicos. Analisando a hemoglobina na sua estrutura normal e mutante, sua produção e evolução, pode-se ter um entendimento mais completo da fisiopatologia desta doença e da sua complexidade clínica.The present article dealt with various aspects related to molecular nature of sickle cell disease (SCD, a heritable hematology disorder that attacks a great number of people in different regions of the world. Researches done on red cell patology, in approximately half a century, starting since 1910, cooperated to gave origin a new branch of science called molecular biology. The discovery of mutation polymorphism (GAT -> GTC in the gene that codifies beta globin chain, give origin to different illness haplotypes, permitted a better and great knowledge about the clinic heterogeneity of the patients. Analysing hemoglobin in its normal and mutation structure as well as in its productions and evolution, one can have a complete understanding of the illness phisiopathology and its clinical complexity.

  17. The influence of hydroxyurea on oxidative stress in sickle cell anemia

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    Lidiane de Souza Torres

    2012-01-01

    Full Text Available OBJECTIVE: The oxidative stress in 20 sickle cell anemia patients taking hydroxyurea and 13 sickle cell anemia patients who did not take hydroxyurea was compared with a control group of 96 individuals without any hemoglobinopathy. METHODS: Oxidative stress was assessed by thiobarbituric acid reactive species production, the Trolox-equivalent antioxidant capacity and plasma glutathione levels. RESULTS: Thiobarbituric acid reactive species values were higher in patients without specific medication, followed by patients taking hydroxyurea and the Control Group (p < 0.0001. The antioxidant capacity was higher in patients taking hydroxyurea and lower in the Control Group (p = 0.0002 for Trolox-equivalent antioxidant capacity and p < 0.0292 for plasma glutathione. Thiobarbituric acid reactive species levels were correlated with higher hemoglobin S levels (r = 0.55; p = 0.0040 and lower hemoglobin F concentrations(r = -0.52; p = 0.0067. On the other hand, plasma glutathione levels were negatively correlated with hemoglobin S levels (r = -0.49; p = 0.0111 and positively associated with hemoglobin F values (r = 0.56; p = 0.0031. CONCLUSION: Sickle cell anemia patients have high oxidative stress and, conversely, increased antioxidant activity. The increase in hemoglobin F levels provided by hydroxyurea and its antioxidant action may explain the reduction in lipid peroxidation and increased antioxidant defenses in these individuals.

  18. Immunologic effects of hydroxyurea in sickle cell anemia.

    Science.gov (United States)

    Lederman, Howard M; Connolly, Margaret A; Kalpatthi, Ram; Ware, Russell E; Wang, Winfred C; Luchtman-Jones, Lori; Waclawiw, Myron; Goldsmith, Jonathan C; Swift, Andrea; Casella, James F

    2014-10-01

    Susceptibility to encapsulated bacteria is well known in sickle cell disease (SCD). Hydroxyurea use is common in adults and children with SCD, but little is known about hydroxyurea's effects on immune function in SCD. Because hydroxyurea inhibits ribonucleotide reductase, causing cell cycle arrest at the G1-S interface, we postulated that hydroxyurea might delay transition from naive to memory T cells, with inhibition of immunologic maturation and vaccine responses. T-cell subsets, naive and memory T cells, and antibody responses to pneumococcal and measles, mumps, and rubella vaccines were measured among participants in a multicenter, randomized, double-blind, placebo-controlled trial of hydroxyurea in infants and young children with SCD (BABY HUG). Compared with placebo, hydroxyurea treatment resulted in significantly lower total lymphocyte, CD4, and memory T-cell counts; however, these numbers were still within the range of historical healthy controls. Antibody responses to pneumococcal vaccination were not affected, but a delay in achieving protective measles antibody levels occurred in the hydroxyurea group. Antibody levels to measles, mumps, and rubella showed no differences between groups at exit, indicating that effective immunization can be achieved despite hydroxyurea use. Hydroxyurea does not appear to have significant deleterious effects on the immune function of infants and children with SCD. Additional assessments of lymphocyte parameters of hydroxyurea-treated children may be warranted. No changes in current immunization schedules are recommended; however, for endemic disease or epidemics, adherence to accelerated immunization schedules for the measles, mumps, and rubella vaccine should be reinforced. Copyright © 2014 by the American Academy of Pediatrics.

  19. Importance of methodological standardization for the ektacytometric measures of red blood cell deformability in sickle cell anemia

    NARCIS (Netherlands)

    Renoux, Céline; Parrow, Nermi; Faes, Camille; Joly, Philippe; Hardeman, Max; Tisdale, John; Levine, Mark; Garnier, Nathalie; Bertrand, Yves; Kebaili, Kamila; Cuzzubbo, Daniela; Cannas, Giovanna; Martin, Cyril; Connes, Philippe

    2016-01-01

    Red blood cell (RBC) deformability is severely decreased in patients with sickle cell anemia (SCA), which plays a role in the pathophysiology of the disease. However, investigation of RBC deformability from SCA patients demands careful methodological considerations. We assessed RBC deformability by

  20. Hydroxyurea is associated with lower costs of care of young children with sickle cell anemia.

    Science.gov (United States)

    Wang, Winfred C; Oyeku, Suzette O; Luo, Zhaoyu; Boulet, Sheree L; Miller, Scott T; Casella, James F; Fish, Billie; Thompson, Bruce W; Grosse, Scott D

    2013-10-01

    In the BABY HUG trial, young children with sickle cell anemia randomized to receive hydroxyurea had fewer episodes of pain, hospitalization, and transfusions. With anticipated broader use of hydroxyurea in this population, we sought to estimate medical costs of care in treated versus untreated children. The BABY HUG database was used to compare inpatient events in subjects receiving hydroxyurea with those receiving placebo. Unit costs were estimated from the 2009 MarketScan Multi-state Medicaid Database for children with sickle cell disease, aged 1 to 3 years. Inpatient costs were based on length of hospital stay, modified by the occurrence of acute chest syndrome, splenic sequestration, or transfusion. Outpatient expenses were based on the schedule required for BABY HUG and a "standard" schedule for 1- to 3-year-olds with sickle cell anemia. There were 232 hospitalizations in the subjects receiving hydroxyurea and 324 in those on placebo; length of hospital stay was similar in the 2 groups. Estimated outpatient expenses were greater in those receiving hydroxyurea, but these were overshadowed by inpatient costs. The total estimated annual cost for those on hydroxyurea ($11 072) was 21% less than the cost of those on placebo ($13 962; P = .038). Savings on inpatient care resulted in a significantly lower overall estimated medical care cost for young children with sickle cell anemia who were receiving hydroxyurea compared with those receiving placebo. Because cost savings are likely to increase with age, these data provide additional support for broad use of hydroxyurea treatment in this population.

  1. Influence of androgens on bone mass in young women with sickle cell anemia

    International Nuclear Information System (INIS)

    Al-Elq, Abdulmohsen H.; Sultan, Osama A.; Al-Turki, Haifa A.; Sadat-Ali, M.

    2008-01-01

    The objective was to evaluate the relationship between the gender hormonal levels and bone mineral density in premenopausal women suffering with sickle cell disease. Method was a cross-sectional study including consecutive female adult patients with sickle cell anemia attending the outpatient hematology/orthopedic clinics, or admitted to King Fahd University Hospital, Al-Khobar, Saudi Arabia, between August 2006 and June 2007. Patient's age was documented and body mass index was calculated. Blood was drawn for complete blood picture, biochemistry and hormonal profile including total estradiol E2 and total testosterone Te. Bone mineral density BMD was measured for all patients using dual energy x-ray absorptiometry scan at the hip and lumbar spine. We analyzed the data of 51 patients with an average age of 26+/-3.1 years. Patients were divided into two groups group A and group B. Group A had normal BMD and group B with low BMD. Thirty-one (60.8%) were in group A and 20 (39.2%) were in group B. The E-2 level was not statistically different between the 2 groups, while Te level was significantly lower in women with low BMD 38+/-11.8 versus 22.3+/-11.7 ng/dl, p<0.001. Our study indicates that in menopausal female patients with sickle cell anemia, testosterone may play a role in the preservation of bone mass. (author)

  2. Acute splenic sequestration in a pregnant woman with homozygous sickle-cell anemia

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    Carolina Bastos Maia

    Full Text Available CONTEXT Homozygous (SS sickle-cell anemia complicated by acute splenic sequestration in adults is a rare event, and it has never been reported during pregnancy. CASE REPORT A 25-year-old woman with homozygous (SS sickle-cell disease was hospitalized at 32 weeks' of gestation presenting weakness, abdominal pain, fever and hemoglobin of 2.4 g/dl. Abnormal fetal heart rate was detected by means of cardiotocography, and 5 units of packed red cells were transfused. Cesarean was performed at 37 weeks. Both mother and baby were discharged in a good general condition. CONCLUSION This case report demonstrates the importance of immediate blood transfusion for treatment of fetal distress in cases of splenic sequestration during pregnancy. This treatment is essential for avoiding maternal and fetal complications.

  3. Acute splenic sequestration in a pregnant woman with homozygous sickle-cell anemia.

    Science.gov (United States)

    Maia, Carolina Bastos; Nomura, Roseli Mieko Yamamoto; Igai, Ana Maria Kondo; Fonseca, Guilherme Hencklain; Gualandro, Sandra Menosi; Zugaib, Marcelo

    2013-01-01

    Homozygous (SS) sickle-cell anemia complicated by acute splenic sequestration in adults is a rare event, and it has never been reported during pregnancy. A 25-year-old woman with homozygous (SS) sickle-cell disease was hospitalized at 32 weeks' of gestation presenting weakness, abdominal pain, fever and hemoglobin of 2.4 g/dl. Abnormal fetal heart rate was detected by means of cardiotocography, and 5 units of packed red cells were transfused. Cesarean was performed at 37 weeks. Both mother and baby were discharged in a good general condition. This case report demonstrates the importance of immediate blood transfusion for treatment of fetal distress in cases of splenic sequestration during pregnancy. This treatment is essential for avoiding maternal and fetal complications.

  4. Molecular analysis and association with clinical and laboratory manifestations in children with sickle cell anemia

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    Roberta Faria Camilo-Araújo

    2014-10-01

    Full Text Available Objectives: To analyze the frequency of βS-globin haplotypes and alpha-thalassemia, and their influence on clinical manifestations and the hematological profile of children with sickle cell anemia. Method: The frequency of βS-globin haplotypes and alpha-thalassemia and any association with clinical and laboratorial manifestations were determined in 117 sickle cell anemia children aged 3–71 months. The confirmation of hemoglobin SS and determination of the haplotypes were achieved by polymerase chain reaction-restriction fragment length polymorphism, and alpha-thalassemia genotyping was by multiplex polymerase chain reaction (single-tube multiplex-polymerase chain reaction. Results: The genotype distribution of haplotypes was 43 (36.7% Central African Republic/Benin, 41 (35.0% Central African Republic/Central African Republic, 20 (17.0% Rare/atypical, and 13 (11.1% Benin/Benin. The frequency of the α3.7 deletion was 1.71% as homozygous (−α3.7/−α3.7 and 11.9% as heterozygous (−α3.7/αα. The only significant association in respect to haplotypes was related to the mean corpuscular volume. The presence of alpha-thalassemia was significantly associated to decreases in mean corpuscular volume, mean corpuscular hemoglobin and reticulocyte count and to an increase in the red blood cell count. There were no significant associations of βS-globin haplotypes and alpha-thalassemia with clinical manifestations. Conclusions: In the study population, the frequency of alpha-thalassemia was similar to published data in Brazil with the Central African Republic haplotype being the most common, followed by the Benin haplotype. βS-globin haplotypes and interaction between alpha-thalassemia and sickle cell anemia did not influence fetal hemoglobin concentrations or the number of clinical manifestations.

  5. Early Reticulocytosis and Anemia Are Associated with Abnormal and Conditional Transcranial Doppler Velocities in Children with Sickle Cell Anemia.

    Science.gov (United States)

    Meier, Emily Riehm; Fasano, Ross M; Estrada, Monica; He, Jianping; Luban, Naomi L C; McCarter, Robert

    2016-02-01

    To improve prediction of sickle cell anemia severity at an early age, we evaluated whether absolute reticulocyte count (ARC) or hemoglobin (Hb) levels during early infancy (2-6 months of age) in patients with sickle cell anemia predict the risk of later developing an abnormal (abTCD) or conditional (cdTCD) Transcranial Doppler (TCD). We used chart review to identify 121 consecutive patients who underwent TCD screening and had steady state ARC and Hb levels recorded between 2 and 6 months of age. Cox regression analysis was used to determine the relationship between ARC, Hb levels, and risk of developing cdTCD/abTCD over time. Mean ARC in early infancy was highest and mean Hb lowest in those children with abTCDs and cdTCDs. Cox regression analysis revealed that those subjects with an ARC ≥200 K/μL in early infancy had nearly 3 times the risk of having an abTCD/cdTCD than the group with an ARC <200 K/μL, and patients with a Hb <8.5 g/dL had 2.7 times the risk of having an abTCD/cdTCD. These data suggest that both elevated ARC and low baseline Hb during early infancy are associated with an increased risk of developing a cdTCD or abTCD later in childhood. Copyright © 2016 Elsevier Inc. All rights reserved.

  6. Hydroxyurea Use in Young Children With Sickle Cell Anemia in New York State.

    Science.gov (United States)

    Anders, David G; Tang, Fei; Ledneva, Tatania; Caggana, Michele; Green, Nancy S; Wang, Ying; Sturman, Lawrence S

    2016-07-01

    This study examined hydroxyurea usage in young children with sickle cell anemia within New York State (NYS). The cohort was 273 children with sickle cell anemia born in NYS in 2006-2009 and enrolled essentially continuously in Medicaid for the first 4 years of life. Medicaid data were used to examine hydroxyurea usage in this group by age at first prescription fill, persistence, region, treatment institution, and year. Log-binomial regression models were used to estimate the likelihood of receiving hydroxyurea treatment. Data from birth through 2014 for all members of the study group were assembled and analyzed in 2015. About 25% of the cohort had at least one filled hydroxyurea prescription by their fifth birthday, and nearly 40% by the end of the study period. The mean proportion of days covered for the first year of therapy was 56.3%. Adherence was also assessed by calculating medication possession ratios for individual treatment periods. Slightly more than one third of treated children showed 80% coverage by these measures. There was a consistent, but not statistically significant, trend toward younger age at first fill. Significant regional and treatment center differences in initiation of hydroxyurea use, but not in persistence after initiation, were noted among NYS centers. Subsequent to clinical studies demonstrating safety, current NYS-wide use of hydroxyurea in young children with sickle cell anemia appears to be widespread and increasing. However, practice differences between treatment centers and inadequate adherence may limit the full disease-modifying effects of hydroxyurea. Copyright © 2016 American Journal of Preventive Medicine. Published by Elsevier Inc. All rights reserved.

  7. Left ventricular hypertrophy in children, adolescents and young adults with sickle cell anemia

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    Gustavo Baptista de Almeida Faro

    2015-10-01

    Full Text Available OBJECTIVE: The aims of this study were to estimate the frequency of left ventricular hypertrophy and to identify variables associated with this condition in under 25-year-old patients with sickle cell anemia.METHODS: A cross-sectional study was performed of children, adolescents and young adults with sickle cell anemia submitted to a transthoracic Doppler echocardiography. The mass of the left ventricle was determined by the formula of Devereux et al. with correction for height, and the percentile curves of gender and age were applied. Individuals with rheumatic and congenital heart disease were excluded. The patients were divided into two groups according to the presence or absence of left ventricular hypertrophy and compared according to clinical, echocardiographic and laboratory variables.RESULTS: A total of 37.6% of the patients had left ventricular hypertrophy in this sample. There was no difference between the groups of patients with and without hypertrophy according to pathological history or clinical characteristics, except possibly for the use of hydroxyurea, more often used in the group without left ventricular hypertrophy. Patients with left ventricular hypertrophy presented larger left atria and lower hemoglobin and hematocrit levels, reticulocyte index and a higher albumin:creatinine ratio in urine.CONCLUSION: Left ventricular hypertrophy was observed in more than one-third of the young patients with sickle cell anemia with this finding being inversely correlated to the hemoglobin and hematocrit levels, and reticulocyte index and directly associated to a higher albumin/creatinine ratio. It is possible that hydroxyurea had had a protective effect on the development of left ventricular hypertrophy.

  8. Parvovirus B19 infection in Tunisian patients with sickle-cell anemia and acute erythroblastopenia

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    Zili Mohamed

    2007-10-01

    Full Text Available Abstract Background Human parvovirus B19 is the etiologic agent of erythema infectiosum in children. It is also associated with other clinical manifestations in different target groups. Patients with chronic hemolytic anemia are at high risk of developing acute erythroblastopenia following infection by the virus. They usually become highly viremic and pose an increased risk of virus transmission. Close monitoring of such high risk groups is required for epidemiologic surveillance and disease prevention activities. Here we report a molecular epidemiological study on B19 virus infection in Tunisian patients with chronic hemolytic anemia. Methods This study was conducted on 92 young chronic hemolytic anemia patients who attended the same ward at the National Bone Marrow Transplantation Center of Tunis and 46 controls from a different hospital. Screening for IgM and IgG anti-B19 antibodies was performed using commercially available enzyme immunoassays and B19 DNA was detected by nested PCR in the overlapping VP1/VP2 region. DNA was sequenced using dideoxy-terminator cycle sequencing technology. Results Anti-parvovirus B19 IgG antibodies were detected in 26 of 46 sickle-cell anemia patients, 18 of 46 β-thalassemia and 7 of 46 controls. Anti-parvovirus B19 IgM antibodies were detected only in 4 of the sickle-cell anemia patients: two siblings and two unrelated who presented with acute erythroblastopenia at the time of blood collection for this study and had no history of past transfusion. B19 DNA was detected only in sera of these four patients and the corresponding 288 bp nested DNA amplicons were sequenced. The sequences obtained were all identical and phylogenetic analysis showed that they belonged to a new B19 virus strain of Genotype1. Conclusion A new parvovirus B19 strain of genotype1 was detected in four Tunisian patients with sickle-cell anemia. Virus transmission appeared to be nosocomial and resulted in acute erythroblastopenia in the four

  9. TXRF analysis of multielements in serum of patients with sickle cell anemia (SCA) by synchrotron radiation

    Energy Technology Data Exchange (ETDEWEB)

    Canellas, Catarine G.L.; Jesus, Edgar F.O. de; Anjos, Marcelino J.; Lopes, Ricardo T., E-mail: catarine@lin.ufrj.b, E-mail: edgar@lin.ufrj.b, E-mail: marcelin@lin.ufrj.b, E-mail: ricardo@lin.ufrj.b [Federal University of Rio de Janeiro (UFRJ), RJ (Brazil). COPPE Technology Center. Nuclear Instrumentation Lab.; Carvalho, Silvia M.F., E-mail: silvia@hemorio.rj.gov.b [State Institute of Hematology Arthur de Siqueira Cavalcanti (HEMORIO), Rio de Janeiro, RJ (Brazil)

    2009-07-01

    The determination of trace elements levels in physiological fluids is of considerable interest in clinical chemistry. Since it has been established these levels in human serum can be utilized as indicators for several pathological conditions, diagnosis and treatment of various diseases. In this work, trace elements were analyzed in serum of patients with sickle cell anemia (SCA) by total reflection X-ray fluorescence using synchrotron radiation (SRTXRF). Sickle cell Anemia is a blood disorder that affects hemoglobin, the protein found in red blood cells that help carry oxygen throughout the body. SCA occurs when a person inherits two abnormal genes (one from each parent) that cause their red blood cells to change shape. These irregular-shaped blood cells die prematurely, resulting in a chronic shortage of red blood cells. We studied forty-three patients (15 males and 28 females) aged 18 to 50 years, suffering SCA and Sixty healthy volunteers (41 males and 19 females) aged 18 to 60 years. All the serum samples had been collected of people who live in the urban area of Rio de Janeiro City/Brazil. The measurements were performed at the X-ray fluorescence beam line at Brazilian National Synchrotron Light Laboratory (LNLS), in Campinas, Sao Paulo using a polychromatic beam. It was possible to determine the concentrations of the following elements: P, S, Cl, K, Ca, Cu, Zn, Br and Rb. (author)

  10. TXRF analysis of multielements in serum of patients with sickle cell anemia (SCA) by synchrotron radiation

    International Nuclear Information System (INIS)

    Canellas, Catarine G.L.; Jesus, Edgar F.O. de; Anjos, Marcelino J.; Lopes, Ricardo T.

    2009-01-01

    The determination of trace elements levels in physiological fluids is of considerable interest in clinical chemistry. Since it has been established these levels in human serum can be utilized as indicators for several pathological conditions, diagnosis and treatment of various diseases. In this work, trace elements were analyzed in serum of patients with sickle cell anemia (SCA) by total reflection X-ray fluorescence using synchrotron radiation (SRTXRF). Sickle cell Anemia is a blood disorder that affects hemoglobin, the protein found in red blood cells that help carry oxygen throughout the body. SCA occurs when a person inherits two abnormal genes (one from each parent) that cause their red blood cells to change shape. These irregular-shaped blood cells die prematurely, resulting in a chronic shortage of red blood cells. We studied forty-three patients (15 males and 28 females) aged 18 to 50 years, suffering SCA and Sixty healthy volunteers (41 males and 19 females) aged 18 to 60 years. All the serum samples had been collected of people who live in the urban area of Rio de Janeiro City/Brazil. The measurements were performed at the X-ray fluorescence beam line at Brazilian National Synchrotron Light Laboratory (LNLS), in Campinas, Sao Paulo using a polychromatic beam. It was possible to determine the concentrations of the following elements: P, S, Cl, K, Ca, Cu, Zn, Br and Rb. (author)

  11. Parent reported sleep problems in preschool children with sickle cell anemia and controls in East London.

    Science.gov (United States)

    Downes, Michelle; de Haan, Michelle; Kirkham, Fenella J; Telfer, Paul T

    2017-06-01

    Snoring and poor sleep may affect cognition, particularly in young children with chronic conditions. Parents of London preschoolers with sickle cell anemia (SCA; n = 22), matched controls (n = 24), and unselected typically developing (n = 142) preschoolers completed sleep questionnaires. Preschoolers with SCA had significantly more sleep problems when compared to matched controls and the larger population. Snoring occurred at least one to two nights a week for 79% of the SCA group. This is compared with 25% of matched controls and 33% of larger population. Randomized controlled trials to improve sleep in young children with SCA already at-risk for cognitive dysfunction should be considered. © 2016 Wiley Periodicals, Inc.

  12. Prevalence of high blood pressure, heart disease, thalassemia, sickle-cell anemia, and iron-deficiency anemia among the UAE adolescent population.

    Science.gov (United States)

    Barakat-Haddad, Caroline

    2013-01-01

    This study examined the prevalence of high blood pressure, heart disease, and medical diagnoses in relation to blood disorders, among 6,329 adolescent students (age 15 to 18 years) who reside in the United Arab Emirates (UAE). Findings indicated that the overall prevalence of high blood pressure and heart disease was 1.8% and 1.3%, respectively. Overall, the prevalence for thalassemia, sickle-cell anemia, and iron-deficiency anemia was 0.9%, 1.6%, and 5%, respectively. Bivariate analysis revealed statistically significant differences in the prevalence of high blood pressure among the local and expatriate adolescent population in the Emirate of Sharjah. Similarly, statistically significant differences in the prevalence of iron-deficiency anemia were observed among the local and expatriate population in Abu Dhabi city, the western region of Abu Dhabi, and Al-Ain. Multivariate analysis revealed the following significant predictors of high blood pressure: residing in proximity to industry, nonconventional substance abuse, and age when smoking or exposure to smoking began. Ethnicity was a significant predictor of heart disease, thalassemia, sickle-cell anemia, and iron-deficiency anemia. In addition, predictors of thalassemia included gender (female) and participating in physical activity. Participants diagnosed with sickle-cell anemia and iron-deficiency anemia were more likely to experience different physical activities.

  13. [Sickle cell anemia and transfusion safety in Bamako, Mali. Seroprevalence of HIV, HBV and HCV infections and alloimmunization belonged to Rh and Kell systems in sickle cell anemia patients].

    Science.gov (United States)

    Diarra, A B; Guindo, A; Kouriba, B; Dorie, A; Diabaté, D T; Diawara, S I; Fané, B; Touré, B A; Traoré, A; Gulbis, B; Diallo, D A

    2013-12-01

    Red cell transfusion is one of the main treatments in sickle cell disease. However there are potential risks of blood transfusions. In order to propose strategies to improve blood safety in sickle cell disease in Mali, we conducted a prospective study of 133 patients with sickle cell anemia recruited at the sickle cell disease research and control center of Bamako, November 2010 to October 2011. The study aimed to determine the prevalence of human immunodeficiency virus (HIV), hepatitis B virus (HBV), and hepatitis C virus (HCV) infections by serum screening and the frequency of red cell alloimmunization before and after blood transfusion. The diagnosis of sickle cell syndrome was made by HPLC, the detection of markers of viral infection was performed by ELISA, and the diagnosis of alloimmunization was conducted by the Indirect Coombs test. Prevalence of viral infections observed at the time of enrolment of patients in the study was 1%, 3% and 1% respectively for HIV, HBV and HCV. Three cases of seroconversion after blood transfusion were detected, including one for HIV, one for HBV and one another for HCV in sickle cell anemia patients. All these patients had received blood from occasional donors. The red cell alloimmunization was observed in 4.4% of patients. All antibodies belonged to Rh system only. Blood transfusion safety in sickle cell anemia patients in Mali should be improved by the introduction of at least the technique for detecting the viral genome in the panel of screening tests and a policy of transfusions of blood units only from regular blood donors. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  14. Percutaneous Glue Embolization of a Visceral Artery Pseudoaneurysm in a Case of Sickle Cell Anemia

    International Nuclear Information System (INIS)

    Gulati, Gurpreet S.; Gulati, Manpreet S.; Makharia, Govind; Hatimota, Pradeep; Saikia, Nripen; Paul, Shashi B.; Acharya, Subrat

    2006-01-01

    Although aneurysmal complications of sickle cell anemia have been described in the intracranial circulation, visceral artery pseudoaneurysms in this disease entity have not previously been reported in the literature. Conventional treatment of visceral pseudoaneurysms has been surgical ligation or resection of the aneurysm. Transcatheter embolization has emerged as an attractive, minimally invasive alternative to surgery in the treatment of these lesions. In certain situations, however, due to the unfavorable angiographic anatomy precluding safe transcatheter embolization, direct percutaneous glue injection of the pseudoaneurysm sac may be considered to achieve successful occlusion of the sac. The procedure may be rendered safer by simultaneous balloon protection of the parent artery. We describe this novel treatment modality in a case of inferior pancreaticoduodenal artery pseudoaneurysm in a patient with sickle cell anemia. Although a complication in the form of glue reflux into the parent vessel occurred that necessitated surgery, this treatment modality may be used in very selected cases (where conventional endovascular embolization techniques are not applicable) after careful selection of the balloon diameter and appropriate concentration of the glue-lipiodol mixture

  15. Association between morphometric variables and nocturnal desaturation in sickle-cell anemia.

    Science.gov (United States)

    Salles, Cristina; Bispo, Marcelo; Trindade-Ramos, Regina Terse

    2014-01-01

    to evaluate associations between morphometric variables, cervical circumference (CC), and abdominal circumference (AC) with the presence of nocturnal desaturation in children and adolescents with sickle-cell anemia. all patients were submitted to baseline polysomnography, oral cavity measurements (maxillary intermolar distance, mandibular intermolar distance, and overjet), and CC and AC measurements. a total of 85 patients were evaluated. A positive correlation was observed between the height/age Z-score and CC measurement (r = 0.233, p = 0.031). The presence of nocturnal desaturation was associated with CC (59.2± 9.3 vs. 67.5 ± 10.7, p = 0.006) and AC measurements (27.0 ± 2.0 vs. 29.0± 2.1, p = 0.028). There was a negative correlation between desaturation and maxillary intermolar distance (r = -0.365, p = 0.001) and mandibular intermolar distance (r = -0.233, p = 0.037). the morphometric variables of CC and AC may contribute to raise suspicion of nocturnal desaturation in children and adolescents with sickle-cell anemia. Copyright © 2014 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.

  16. Association between morphometric variables and nocturnal desaturation in sickle-cell anemia

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    Cristina Salles

    2014-07-01

    Full Text Available OBJECTIVE: to evaluate associations between morphometric variables, cervical circumference (CC, and abdominal circumference (AC with the presence of nocturnal desaturation in children and adolescents with sickle-cell anemia. METHODS: all patients were submitted to baseline polysomnography, oral cavity measurements (maxillary intermolar distance, mandibular intermolar distance, and overjet, and CC and AC measurements. RESULTS: a total of 85 patients were evaluated. A positive correlation was observed between the height/age Z-score and CC measurement (r = 0.233, p = 0.031. The presence of nocturnal desaturation was associated with CC (59.2± 9.3 vs. 67.5 ± 10.7, p = 0.006 and AC measurements (27.0 ± 2.0 vs. 29.0± 2.1, p = 0.028. There was a negative correlation between desaturation and maxillary intermolar distance (r = -0.365, p = 0.001 and mandibular intermolar distance (r = -0.233, p = 0.037. CONCLUSIONS: the morphometric variables of CC and AC may contribute to raise suspicion of nocturnal desaturation in children and adolescents with sickle-cell anemia.

  17. Effect of 2,3-diphosphoglycerate on oxygen affinity of blood in sickle cell anemia

    Science.gov (United States)

    Charache, Samuel; Grisolia, Santiago; Fiedler, Adam J.; Hellegers, Andre E.

    1970-01-01

    Blood of patients with sickle cell anemia (SS) exhibits decreased affinity for oxygen, although the oxygen affinity of hemoglobin S is the same as that of hemoglobin A. SS red cells contain more 2,3-diphosphoglycerate (DPG) than normal erythrocytes. The oxygen affinity of hemolyzed red cells is decreased by added DPG, and hemolysates prepared from SS red cells do not differ from normal hemolysates in this regard. Reduction of oxygen affinity to the levels found in intact SS red cells required DPG concentrations in excess of those found in most SS patients. The same was true of oxygen affinity of patients with pyruvate kinase deficiency. Other organic phosphates, as well as inorganic ions, are known to alter the oxygen affinity of dilute solutions of hemoglobin. These substances, the state of aggregation of hemoglobin molecules, and cytoarchitectural factors probably play roles in determining oxygen affinity of both normal and SS red cells. PMID:5443181

  18. "Sickle Cell Anemia: Tracking down a Mutation": An Interactive Learning Laboratory That Communicates Basic Principles of Genetics and Cellular Biology

    Science.gov (United States)

    Jarrett, Kevin; Williams, Mary; Horn, Spencer; Radford, David; Wyss, J. Michael

    2016-01-01

    "Sickle cell anemia: tracking down a mutation" is a full-day, inquiry-based, biology experience for high school students enrolled in genetics or advanced biology courses. In the experience, students use restriction endonuclease digestion, cellulose acetate gel electrophoresis, and microscopy to discover which of three putative patients…

  19. Using the History of Research on Sickle Cell Anemia to Affect Preservice Teachers' Conceptions of the Nature of Science.

    Science.gov (United States)

    Howe, Eric M.

    This paper examines how using a series of lessons developed from the history of research on sickle cell anemia affects preservice teacher conceptions of the nature of science (NOS). The importance of a pedagogy that has students do science through an integral use of the history of science is effective at enriching students' NOS views is presented.…

  20. Apneia obstrutiva do sono em portadores da anemia falciforme Obstructive sleep apnea in sickle cell disease carriers

    Directory of Open Access Journals (Sweden)

    Cristina Salles

    2010-02-01

    Full Text Available A Síndrome da Apneia Obstrutiva do Sono (SAOS é definida como episódios recorrentes de obstrução completa ou parcial das vias aéreas superiores que ocorrem durante o sono. O fluxo aéreo pode estar diminuído ou completamente interrompido, a despeito do esforço inspiratório, resultando em episódios intermitentes de hipoxemia, hipercapnia. A presença de SAOS poderá ser um fator de piora da hipoxemia noturna, da doença de base, concorrendo para ocorrência de síndrome torácica aguda. Com o objetivo de revisar dados sobre a fisiopatologia da SAOS em crianças e adolescentes portadores de anemia falciforme, foi realizada busca eletrônica de artigos no Medline e Lilacs nos últimos dez anos, bem como referências cruzadas dos artigos encontrados. Palavras-chaves: "sleep apnea, sickle cell anemia, sickle cell disease, pathophysiology ". Estudos sugerem que a SAOS pode potencializar o quadro clínico, ou seja, as crises álgicas, déficit de estatura, de peso, cognitivo e de inteligência, dessaturação arterial noturna, e acidente vascular cerebral das crianças portadoras de anemia falciforme. Rev. Bras. Hematol. Hemoter.Obstructive Sleep Apnea Syndrome (OSAS is defined as recurrent episodes of complete or partial obstruction of the upper airway during sleep. The airflow can be reduced or completely stopped despite of inspiratory effort, resulting in intermittent episodes of hypoxemia and hypercapnia. OSAS may be a factor in the worsening of nocturnal hypoxemia, of the underlying disease, leading to acute chest syndrome. The aim of this work was to review data on the pathophysiology of OSAS in children and adolescents with sickle cell anemia. We revisited articles published over the last ten years linked to the Medline and Lilacs databases, as well as cross-referencing using these articles. The following keywords were used: sleep apnea, obstructive sleep apnea, sickle cell anemia, sickle cell disease. Studies suggest that OSAS may

  1. Effects of high-field-strength MR imaging on the microcirculation in patients with sickle cell anemia

    International Nuclear Information System (INIS)

    Effmann, E.L.; Podolak, M.; Kinney, T.; Hedlund, L.

    1987-01-01

    Since deoxygenated sickled erythrocytes in vitro align in magnetic fields, the safety of MR imaging of patients with sickle cell anemia is questionable. To determine possible effects of high magnetic fields on blood flow in vivo, the authors used laser Doppler velocimetry to measure capillary blood flow from the forearm of five patients and three control subjects during exposure to a 1.5-T field. They found no significant differences (P<.15) between cutaneous blood flow measured outside and inside the magnet bore in either controls or patients not in crisis. While their results do not preclude the presence of effects in other capillary systems in sickle cell anemia patients in crisis, they do suggest that exposure to a 1.5-T field does not produce detectable flow changes in one microcirculatory bed

  2. The effect of xanthine oxidase and hypoxanthine on the permeability of red cells from patients with sickle cell anemia.

    Science.gov (United States)

    Al Balushi, Halima W M; Rees, David C; Brewin, John N; Hannemann, Anke; Gibson, John S

    2018-03-01

    Red cells from patients with sickle cell anemia (SCA) are under greater oxidative challenge than those from normal individuals. We postulated that oxidants generated by xanthine oxidase (XO) and hypoxanthine (HO) contribute to the pathogenesis of SCA through altering solute permeability. Sickling, activities of the main red cell dehydration pathways (P sickle , Gardos channel, and KCl cotransporter [KCC]), and cell volume were measured at 100, 30, and 0 mmHg O 2 , together with deoxygenation-induced nonelectrolyte hemolysis. Unexpectedly, XO/HO mixtures had mainly inhibitory effects on sickling, P sickle , and Gardos channel activities, while KCC activity and nonelectrolyte hemolysis were increased. Gardos channel activity was significantly elevated in red cells pharmacologically loaded with Ca 2+ using the ionophore A23187, consistent with an effect on the transport system per se as well as via Ca 2+ entry likely via the P sickle pathway. KCC activity is controlled by several pairs of conjugate protein kinases and phosphatases. Its activity, however, was also stimulated by XO/HO mixtures in red cells pretreated with N-ethylmaleimide (NEM), which is thought to prevent regulation via changes in protein phosphorylation, suggesting that the oxidants formed could also have direct effects on this transporter. In the presence of XO/HO, red cell volume was better maintained in deoxygenated red cells. Overall, the most notable effect of XO/HO mixtures was an increase in red cell fragility. These findings increase our understanding of the effects of oxidative challenge in SCA patients and are relevant to the behavior of red cells in vivo. © 2018 The Authors. Physiological Reports published by Wiley Periodicals, Inc. on behalf of The Physiological Society and the American Physiological Society.

  3. Epigenetic and molecular profiles of erythroid cells after hydroxyurea treatment in sickle cell anemia

    Science.gov (United States)

    Steward, Shirley; Howard, Thad A.; Mortier, Nicole; Smeltzer, Matthew; Wang, Yong-Dong; Ware, Russell E.

    2011-01-01

    Hydroxyurea has been shown to be efficacious for the treatment of sickle cell anemia (SCA), primarily through the induction of fetal hemoglobin (HbF). However, the exact mechanisms by which hydroxyurea can induce HbF remain incompletely defined, although direct transcriptional effects and altered cell cycle kinetics have been proposed. In this study, we investigated potential epigenetic and alternative molecular mechanisms of hydroxyurea-mediated HbF induction by examining methylation patterns within the Gγ-globin promoter and miRNA expression within primary CD71+ erythrocytes of patients with SCA, both at baseline before beginning hydroxyurea therapy and after reaching maximum tolerated dose (MTD). Using both cross-sectional analysis and paired-sample analysis, we found that the highly methylated Gγ-globin promoter was inversely correlated to baseline HbF levels, but only slightly altered by hydroxyurea treatment. Conversely, expression of several specific miRNAs was significantly increased after hydroxyurea treatment, and expression of miR-26b and miR-151-3p were both associated with HbF levels at MTD. The significant associations identified in these studies suggest that methylation may be important for regulation of baseline HbF, but not after hydroxyurea treatment, whereas changes in miRNA expression may be associated with hydroxyurea-mediated HbF induction. This study was registered at ClinicalTrials.gov (NCT00305175). PMID:21921042

  4. Effectiveness, safety, and cost of partial exchange transfusions in patients with sickle-cell anemia at a sickle cell disease center in sub-Saharan Africa.

    Science.gov (United States)

    Boma Muteb, P; Kaluila Mamba, J F J; Muhau Pfutila, P; Bilo, V; Panda Mulefu, J D; Diallo, D A

    2017-11-01

    The partial exchange transfusions necessary for management of some sickle-cell complications raise the issue of effectiveness in the context of limited resources and inadequate blood safety. This study evaluated the effectiveness, safety, and cost of partial exchange transfusions in 39 patients with sickle-cell anemia in Lubumbashi, looking at the patients' age and gender and the tolerability and direct cost of the transfusions. Excel and SPSS 18 were used for data entry and analysis. Chi2 and Fisher exact tests were used for comparisons. A P-value ≤ 5% was considered statistically significant. The average age of patients was 8.6 ± 6.4 years, and the majority were girls. The most frequent indications were stroke, severe infections, severe vasooclusive crises, and acute chest syndrome. Partial exchange transfusions were effective in improving hemoglobin and hematocrit as well as the percentage of HbS. No acute accident was observed during any partial exchange transfusion; one anti-Kell alloimmunization and 2 cases of iron overload were observed. The annual cost of partial exchange transfusions per patient requiring (and able to afford) regular treatment was US $ 3,345 without iron chelation and more than US $ 5000 with chelation. Partial exchange transfusions are effective and tolerated, but financially inaccessible to the majority of our sickle cell patients. Thus, an assessment is needed of the economic burden of sickle cell complications that require partial exchange transfusions in the context of countries with limited financial resources.

  5. Phase 1 study of the E-selectin inhibitor GMI 1070 in patients with sickle cell anemia.

    Directory of Open Access Journals (Sweden)

    Ted Wun

    Full Text Available Sickle cell anemia is an inherited disorder of hemoglobin that leads to a variety of acute and chronic complications. Abnormal cellular adhesion, mediated in part by selectins, has been implicated in the pathophysiology of the vaso-occlusion seen in sickle cell anemia, and selectin inhibition was able to restore blood flow in a mouse model of sickle cell disease.We performed a Phase 1 study of the selectin inhibitor GMI 1070 in patients with sickle cell anemia. Fifteen patients who were clinically stable received GMI 1070 in two infusions.The drug was well tolerated without significant adverse events. There was a modest increase in total peripheral white blood cell count without clinical symptoms. Plasma concentrations were well-described by a two-compartment model with an elimination T1/2 of 7.7 hours and CLr of 19.6 mL/hour/kg. Computer-assisted intravital microscopy showed transient increases in red blood cell velocity in 3 of the 4 patients studied.GMI 1070 was safe in stable patients with sickle cell anemia, and there was suggestion of increased blood flow in a subset of patients. At some time points between 4 and 48 hours after treatment with GMI 1070, there were significant decreases in biomarkers of endothelial activation (sE-selectin, sP-selectin, sICAM, leukocyte activation (MAC-1, LFA-1, PM aggregates and the coagulation cascade (tissue factor, thrombin-antithrombin complexes. Development of GMI 1070 for the treatment of acute vaso-occlusive crisis is ongoing.ClinicalTrials.gov NCT00911495.

  6. Phase 1 Study of the E-Selectin Inhibitor GMI 1070 in Patients with Sickle Cell Anemia

    Science.gov (United States)

    Wun, Ted; Styles, Lori; DeCastro, Laura; Telen, Marilyn J.; Kuypers, Frans; Cheung, Anthony; Kramer, William; Flanner, Henry; Rhee, Seungshin; Magnani, John L.; Thackray, Helen

    2014-01-01

    Background Sickle cell anemia is an inherited disorder of hemoglobin that leads to a variety of acute and chronic complications. Abnormal cellular adhesion, mediated in part by selectins, has been implicated in the pathophysiology of the vaso-occlusion seen in sickle cell anemia, and selectin inhibition was able to restore blood flow in a mouse model of sickle cell disease. Methods We performed a Phase 1 study of the selectin inhibitor GMI 1070 in patients with sickle cell anemia. Fifteen patients who were clinically stable received GMI 1070 in two infusions. Results The drug was well tolerated without significant adverse events. There was a modest increase in total peripheral white blood cell count without clinical symptoms. Plasma concentrations were well-described by a two-compartment model with an elimination T1/2 of 7.7 hours and CLr of 19.6 mL/hour/kg. Computer-assisted intravital microscopy showed transient increases in red blood cell velocity in 3 of the 4 patients studied. Conclusions GMI 1070 was safe in stable patients with sickle cell anemia, and there was suggestion of increased blood flow in a subset of patients. At some time points between 4 and 48 hours after treatment with GMI 1070, there were significant decreases in biomarkers of endothelial activation (sE-selectin, sP-selectin, sICAM), leukocyte activation (MAC-1, LFA-1, PM aggregates) and the coagulation cascade (tissue factor, thrombin-antithrombin complexes). Development of GMI 1070 for the treatment of acute vaso-occlusive crisis is ongoing. Trial Registration ClinicalTrials.gov NCT00911495 PMID:24988449

  7. Phase 1 study of the E-selectin inhibitor GMI 1070 in patients with sickle cell anemia.

    Science.gov (United States)

    Wun, Ted; Styles, Lori; DeCastro, Laura; Telen, Marilyn J; Kuypers, Frans; Cheung, Anthony; Kramer, William; Flanner, Henry; Rhee, Seungshin; Magnani, John L; Thackray, Helen

    2014-01-01

    Sickle cell anemia is an inherited disorder of hemoglobin that leads to a variety of acute and chronic complications. Abnormal cellular adhesion, mediated in part by selectins, has been implicated in the pathophysiology of the vaso-occlusion seen in sickle cell anemia, and selectin inhibition was able to restore blood flow in a mouse model of sickle cell disease. We performed a Phase 1 study of the selectin inhibitor GMI 1070 in patients with sickle cell anemia. Fifteen patients who were clinically stable received GMI 1070 in two infusions. The drug was well tolerated without significant adverse events. There was a modest increase in total peripheral white blood cell count without clinical symptoms. Plasma concentrations were well-described by a two-compartment model with an elimination T1/2 of 7.7 hours and CLr of 19.6 mL/hour/kg. Computer-assisted intravital microscopy showed transient increases in red blood cell velocity in 3 of the 4 patients studied. GMI 1070 was safe in stable patients with sickle cell anemia, and there was suggestion of increased blood flow in a subset of patients. At some time points between 4 and 48 hours after treatment with GMI 1070, there were significant decreases in biomarkers of endothelial activation (sE-selectin, sP-selectin, sICAM), leukocyte activation (MAC-1, LFA-1, PM aggregates) and the coagulation cascade (tissue factor, thrombin-antithrombin complexes). Development of GMI 1070 for the treatment of acute vaso-occlusive crisis is ongoing. ClinicalTrials.gov NCT00911495.

  8. Improved hydroxyurea effect with the use of text messaging in children with sickle cell anemia.

    Science.gov (United States)

    Estepp, Jeremie H; Winter, Bryan; Johnson, Margery; Smeltzer, Matthew P; Howard, Scott C; Hankins, Jane S

    2014-11-01

    In children with sickle cell anemia (SCA), hydroxyurea reduces morbidity, but adherence is frequently suboptimal. Because most families of children with SCA have access to cellular telephone services, we assessed the impact of text messaged reminders as a tool to improve adherence to hydroxyurea. All patients hydroxyurea at a maximal tolerated dosage (MTD) at St. Jude Children's Research Hospital Comprehensive Pediatric Sickle Cell Program and who received automated text message reminders (SIMON®) were retrospectively identified. Laboratory parameters, hospitalizations, and medication possession ratios (MPR) prior to and after initiation of SIMON® were compared to assess the impact of SIMON®. Of the 97.3% of families with access to a cell phone, 91% elected to receive text message reminders. Among 55 children receiving hydroxyurea at MTD, laboratory parameters reflected waning medication compliance during the 12 months prior to SIMON®. Following initiation of SIMON®, children had higher mean corpuscular volumes, hemoglobin levels and fetal hemoglobin percentages and lower absolute reticulocyte counts and bilirubin levels, suggesting improved medication adherence. Hospitalizations were uncommon before and after SIMON®, and medication possession ratios (MPRs) were high before and after SIMON®, neither was significantly changed. SIMON® was feasible and improved hematologic parameters in children with SCA receiving hydroxyurea at a MTD. Future work will include extension of this technology to children with other chronic medical conditions who require daily use of medication. © 2014 Wiley Periodicals, Inc.

  9. Chronic hyper-hemolysis in sickle cell anemia: association of vascular complications and mortality with less frequent vasoocclusive pain.

    Directory of Open Access Journals (Sweden)

    James G Taylor

    2008-05-01

    Full Text Available Intravascular hemolysis in sickle cell anemia could contribute to complications associated with nitric oxide deficiency, advancing age, and increased mortality. We have previously reported that intense hemolysis is associated with increased risk of vascular complications in a small cohort of adults with sickle cell disease. These observations have not been validated in other populations.The distribution of serum lactic dehydrogenase (LDH values was used as a surrogate measure of intravascular hemolysis in a contemporaneous patient group and an historical adult population from the Cooperative Study of Sickle Cell Disease (CSSCD, all with sickle cell anemia. Chronic hyper-hemolysis was defined by the top LDH quartile and was compared to the lowest LDH quartile.Hyper-hemolysis subjects had higher systolic blood pressure, higher prevalence of leg ulcers (OR 3.27, 95% CI 1.92-5.53, P<0.0001, priapism (OR 2.62, 95% CI 1.13-6.90, P = 0.03 and pulmonary hypertension (OR 4.32, 95% CI 2.12-8.60, P<0.0001, while osteonecrosis (OR 0.32, 95% CI 0.19-0.54, P<0.0001 and pain (OR 0.23, 95% CI 0.09-0.55, P = 0.0004 were less prevalent. Hyper-hemolysis was influenced by fetal hemoglobin and alpha thalassemia, and was a risk factor for early death in the CSSCD population (Hazard Ratio = 1.97, P = 0.02.Steady state LDH measurements can identify a chronic hyper-hemolysis phenotype which includes less frequent vasooclusive pain and earlier mortality. Clinicians should consider sickle cell specific therapies for these patients, as is done for those with more frequent acute pain. The findings also suggest that an important class of disease modifiers in sickle cell anemia affect the rate of hemolysis.

  10. Towards a point-of-care strip test to diagnose sickle cell anemia.

    Directory of Open Access Journals (Sweden)

    Meaghan Bond

    Full Text Available A rapid test to identify patients with sickle cell disease could have important benefits in low-resource settings. Sickle cell anemia (SCA affects about 300,000 newborns each year, the majority of whom are born in sub-Saharan Africa. Low-cost therapies are available to treat SCA, but most countries in sub-Saharan Africa lack robust neonatal screening programs needed to identify patients in need of treatment. To address this need, we developed and evaluated a competitive lateral flow assay that identifies patients with SCA (genotype HbSS in 15 minutes using undiluted whole blood. A small volume of blood (0.5 μL- 3 μL is mixed with antibody-coated blue latex beads in a tube and applied to the strip. Strips are then placed in a well of running buffer and allowed to run for 10 minutes. Laboratory evaluation with samples containing different proportions of hemoglobin A (HbA and hemoglobin S (HbS indicated that the test should enable identification of SCA patients but not persons with sickle cell trait (SCT. We evaluated the test using 41 samples from individuals with SCA, SCT, and normal blood. With visual inspection or quantitative analysis, we found a 98% accuracy when differentiating SCA from normal and SCT samples as a group (90% sensitivity and 100% specificity for identifying SCA. This work demonstrates important steps towards making a lateral flow test for hemoglobinopathies more appropriate for point-of-care use; further work is needed before the test is appropriate for clinical use.

  11. Screening for stroke in sickle cell anemia: comparison of transcranial Doppler imaging and nonimaging US techniques.

    Science.gov (United States)

    Neish, Ariane S; Blews, David E; Simms, Catherine A; Merritt, Robert K; Spinks, Alice J

    2002-03-01

    To determine whether criteria for screening patients with sickle cell anemia for stroke established with a nonimaging transcranial Doppler ultrasonographic (US) technique are applicable to studies performed with a transcranial Doppler US imaging technique. One hundred sixty-eight examinations in 66 children were performed for sickle cell stroke screening. Children were examined with nonimaging and imaging transcranial Doppler US techniques on the same day, for a total of 84 paired examinations. The time-averaged maximum mean velocity (V(mean)) and resistive index (RI) were calculated in the middle cerebral arteries, bifurcations of the distal internal carotid arteries, distal internal carotid arteries, anterior cerebral arteries, posterior cerebral arteries, and basilar arteries. The maximum systolic velocity (V(max)) was evaluated in the distal internal carotid arteries and middle cerebral arteries. V(mean), V(max), and RI measurements were subjected to repeated-measures multivariate analysis of covariance, and the Pearson product moment correlation was used for middle cerebral artery velocity, age, and hemoglobin. V(mean) measurements obtained with nonimaging and imaging techniques varied substantially for the bifurcation of the distal internal carotid artery, the posterior cerebral artery, and the basilar artery. Substantial differences were found in RIs for every vessel. Examination time was shorter with the nonimaging technique. V(mean) measurements in the middle cerebral artery, distal internal carotid artery, and anterior cerebral artery did not vary substantially between nonimaging and imaging transcranial Doppler US. RI data did not yield comparable measurements.

  12. Gadolinium-DOTA enhanced MRI of painful osseous crises in children with sickle cell anemia

    International Nuclear Information System (INIS)

    Bonnerot, V.; Sebag, G.; Montalembert, M. de; Wioland, M.; Glorion, C.; Girot, R.; Lallemand, D.

    1994-01-01

    In order to evaluate the role of gadolinium-DOTA enhanced MRI in the management of painful osseous crises in children with sickle cell anemia (SCA), nine children with SCA underwent MRI, bone scans and ultrasonographic studies during 11 osseous crises. Imaging findings were compared with the final diagnosis: three acute osteomyelitis (AO) and 16 acute infarcts (AI). MRI could not differentiate AO from AI. The appearance of severe AI was very misleading and was similar to the usual appearance of AO, including soft tissue changes, periosteal reaction and patterns of enhancement. Gadolinium-DOTA enhanced MRI was useful for determining the anatomic site and extent of AO or AI and for distinguishing between necrotic material, fluid collection and vascularized inflammatory tissue. It can also help to guide the aspiration of intraosseous, subperiosteal and soft tissue fluid collections. (orig.)

  13. Massive Accidental Overdose of Hydroxyurea in a Young Child with Sickle Cell Anemia

    Science.gov (United States)

    Miller, Scott T.; Rey, Kathy; He, Jin; Flanagan, Jonathan; Fish, Billie J.; Rogers, Zora R.; Wang, Winfred C.; Ware, Russell E.

    2011-01-01

    The Pediatric Hydroxyurea Phase III Clinical Trial (BABY HUG) confirmed safety and efficacy of hydroxyurea therapy for infants with sickle cell anemia. Treatment was associated with reduction in rates of pain, acute chest syndrome, hospitalizations and blood transfusions; improved hematologic values; and, perhaps, preservation of organ function. During the study, a two year-old ingested at one time an entire 35-day supply of hydroxyurea (612 mg/kg body-weight). Despite a serum level of 7,756 μM four hours post-ingestion, the only toxicity was transient mild myelosuppression. With wider usage of hydroxyurea anticipated, conservative management of future overdoses seems reasonable. (ClinicalTrials.gov NCT00006400) PMID:21744485

  14. Predictors of splenic function preservation in children with sickle cell anemia treated with hydroxyurea.

    Science.gov (United States)

    Nottage, Kerri A; Ware, Russell E; Winter, Bryan; Smeltzer, Matthew; Wang, Winfred C; Hankins, Jane S; Dertinger, Stephen D; Shulkin, Barry; Aygun, Banu

    2014-11-01

    More than 90% of children with sickle cell anemia (SCA) lose splenic function by the age of 2 yrs. Splenic function may improve with hydroxyurea, but previous studies are conflicting. We prospectively evaluated the effect of hydroxyurea on splenic filtrative function. Children with SCA enrolled in the Hydroxyurea Study of Long-Term Effects (HUSTLE-NCT00305175) underwent clinical evaluations including Tc(99) m liver-spleen (LS) scans before hydroxyurea initiation and after 3 yrs of treatment to maximum tolerated dose (MTD). LS scans were classified as follows: no uptake, Hydroxyurea at MTD is associated with preserved or improved splenic filtrative function, with 33% demonstrating LS scan uptake after 3 yrs. Younger age, higher %HbF, and baseline splenic function are associated with a favorable outcome. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  15. Influence of lime juice on the severity of sickle cell anemia.

    Science.gov (United States)

    Adegoke, Samuel Ademola; Shehu, Umar Abdullahi; Mohammed, Lasisi Oluwafemi; Sanusi, Yunusa; Oyelami, Oyeku Akibu

    2013-06-01

    The pain in sickle cell anemia (SCA) is often triggered by dehydration, acidosis, and fever that are usually due to malaria. Intake of lime juice was recently demonstrated to facilitate clearance of the malaria parasite. It was therefore sought to determine whether regular intake of lime juice will ameliorate crisis, especially recurrent bone pain. In this preliminary, open-labeled, randomized study, the effects of lime juice on the clinical and some laboratory characteristics of children with SCA were tested. Among the 113 children with SCA studied in two hospitals, the 58 receiving lime treatment had lower rates of significant painful episodes than the 55 without lime (37 versus 83 crises in 6 months, and 0.64±0.11 versus 1.51±0.34 average rates per child, plime did not cause any significant side-effect. Regular intake of lime juice may be of great therapeutic and nutritional relevance in children with SCA.

  16. Trace element distribution in the hair of some sickle cell anemia patients and controls

    International Nuclear Information System (INIS)

    Oluwole, A.F.; Asubiojo, O.I.; Adekile, A.D.; Filby, R.H.; Bragg, A.; Grimm, C.I.

    1990-01-01

    Hair samples of some young sickle cell anemia (SCA) and Control patients in Nigeria were analyzed for 12 elements, viz, Se, Hg, Cr, Fe, Zn, Co, Cu, Br, As, Sb, Na, and Sc, using instrumental Neutron Activation Analysis (INAA). With the exception of Cu, which was found to be significantly higher in the hair of SCA patients (at the 0.05 level of the t-test), there were generally no significant differences in elemental concentrations within the two groups. A preliminary study of the elemental contents of the fingernails of the same subjects showed a higher abundance of most of the elements in nail than in hair. These preliminary results were compared with similar studies form some other parts of the world

  17. Estimation of malondialdehyde levels in serum and saliva of children affected with sickle cell anemia

    Directory of Open Access Journals (Sweden)

    Sudhindra Baliga

    2018-01-01

    Full Text Available Background: Sickle cell anemia (SCA is an inherited disorder of hemoglobin synthesis characterized by deformed erythrocytes. Hemoglobin S present in sickle-shaped erythrocytes exhibits an enhanced rate of auto-oxidation compared with normal hemoglobin A. It produces more of reactive oxygen species (ROS which promotes oxidatively stressed environment. ROS degrade the membranes of sickle cell erythrocytes composed of polyunsaturated lipids and form malondialdehyde (MDA as a by-product. Aim: The aim of the study is to evaluate and compare the MDA levels of serum and saliva in SCA patients. Design: A total of 150 children aged 4–12 years were divided into two groups: Group A (n = 75 consisting of children suffering from SCA and Group B (n = 75 consisting of healthy children. Blood and saliva samples were collected aseptically from both the groups, and they were subjected to thiobarbituric acid assay. Absorbance was evaluated spectrophotometrically at 531 nm, and the values of concentration of MDA were derived. Results: The mean MDA levels in serum and saliva were 8.9825 ± 1.04 and 0.5152 ± 0.28, respectively, in Group A and they were found to be higher than mean MDA levels of serum (5.87 ± 0.92 and saliva (0.2929 ± 0.06 of Group B and the difference of their mean was found to be statistically significant. Conclusion: A significant correlation of the MDA was found in saliva and serum of the patients with SCA. This finding suggests that saliva can be effectively used as a noninvasive alternative for assessing the oxidative stress in patients with SCA.

  18. Doppler-Defined Pulmonary Hypertension in Sickle Cell Anemia in Kurdistan, Iraq.

    Science.gov (United States)

    Al-Allawi, Nasir; Mohammad, Ameen M; Jamal, Shakir

    2016-01-01

    To determine the frequency, clinical and laboratory associations of pulmonary hypertension in Iraqi Kurds with sickle cell anemia, a total of ninety four such patients attending a major hemoglobinopathy center in Iraqi Kurdistan were enrolled. All patients were re-evaluated clinically and had their blood counts, HbF, serum ferritin, LDH, renal and liver function assessed. Transthoracic Doppler echocardiography with measurement of tricuspid valve regurgitant jet velocity (TRV) was performed. A TRV in excess of 2.8 m/s was considered for the purposes of this study as indicative of pulmonary hypertension (PH). The prevalence of TRV in excess of 2.8m/s was 10.6%. By univariate analysis: significantly higher reticulocyte count, more frequent blood transfusions and pain episodes were encountered in the PH group as compared to the non-PH group (p = 0.001, 0.045 and 0.02 respectively). Moreover, PH patients had significantly higher mean right atrial area, left atrial size, E wave/A wave ratio and ejection fraction by echocardiography (p = 0.027, 0.037, <0.001 and 0.008 respectively). Except for reticulocyte count none of the other parameters remained significant by multivariate analysis (p = 0.024). In conclusion the current study revealed that pulmonary hypertension is rather frequent among Iraqi Kurds with sickle cell anemia, and identified reticulocyte count as an independently associated parameter with PH in this population. Future prospective studies including right heart catheterization and appropriate medical intervention are warranted.

  19. Pharmacokinetics and bioequivalence of a liquid formulation of hydroxyurea in children with sickle cell anemia.

    Science.gov (United States)

    Estepp, Jeremie H; Melloni, Chiara; Thornburg, Courtney D; Wiczling, Paweł; Rogers, Zora; Rothman, Jennifer A; Green, Nancy S; Liem, Robert; Brandow, Amanda M; Crary, Shelley E; Howard, Thomas H; Morris, Maurine H; Lewandowski, Andrew; Garg, Uttam; Jusko, William J; Neville, Kathleen A

    2016-03-01

    Hydroxyurea (HU) is a crucial therapy for children with sickle cell anemia, but its off-label use is a barrier to widespread acceptance. We found HU exposure is not significantly altered by liquid vs capsule formulation, and weight-based dosing schemes provide consistent exposure. HU is recommended for all children starting as young as 9 months of age with sickle cell anemia (SCA; HbSS and HbSβspan(0) thalassemia); however; a paucity of pediatric data exists regarding the pharmacokinetics (PK) or the exposure-response relationship of HU. This trial aimed to characterize the PK of HU in children and to evaluate and compare the bioavailability of a liquid vs capsule formulation. This multicenter; prospective; open-label trial enrolled 39 children with SCA who provided 682 plasma samples for PK analysis following administration of HU. Noncompartmental and population PK models are described. We report that liquid and capsule formulations of HU are bioequivalent; weight-based dosing schemes provide consistent drug exposure; and age-based dosing schemes are unnecessary. These data support the use of liquid HU in children unable to swallow capsules and in those whose weight precludes the use of fixed capsule formulations. Taken with existing safety and efficacy literature; these findings should encourage the use of HU across the spectrum of age and weight in children with SCA; and they should facilitate the expanded use of HU as recommended in the National Heart; Lung; and Blood Institute guidelines for individuals with SCA. © 2015, The American College of Clinical Pharmacology.

  20. [The significance of sickle cell anemia within the context of the Brazilian government's 'racial policies' (1995-2004)].

    Science.gov (United States)

    Fry, Peter H

    2005-01-01

    This essay reflects on the social significance of growing interest in sickle cell anemia and other illnesses associated with the black body in Brazil. I explore the discursive network that has taken shape around the disease within the social context of its production. I first summarize anthropologist Melbourne Tapper's analysis of the United States program to fight sickle cell anemia in the 1970s, shortly after blacks attained victories in the civil rights movement. Tapper (1999) argues that one of the consequences of this policy was the creation of a responsible black citizenry. In the late 1990s, the Brazilian government developed a program (Programa de Anemia Falciforme) that counted on the heavy participation of black activists and that also contributed to the formation of a "responsible black community". My argument is that sickle cell anemia becomes much more than an illness to be eradicated. The discourse surrounding it is a powerful element in the process of naturalization of the "black race" (and, by logical and political complement, the "white race") in a country that until recently imagined itself a biologically and culturally hybrid nation.

  1. Doppler echocardiographic study in adolescents and young adults with sickle cell anemia

    Directory of Open Access Journals (Sweden)

    Wolney de Andrade Martins

    1999-12-01

    Full Text Available OBJECTIVE: Anatomical and functional assessment of the heart through Doppler and echocardiography in patients with cell anemia (SCA. METHODS: Twenty-five patients with SCA and ages ranging from 14 to 45 years were prospectively studied in a comparison with 25 healthy volunteers. All of them underwent clinical and laboratory evaluation and Doppler echocardiography as well.The measurements were converted into body surface indices. RESULTS: There were increases in all chamber diameters and left ventricle (LV mass of the SCA patients. It was characterised an eccentric hypertrophy of the left ventricle. The preload was increased (left ventricle end-diastolic volume and the afterload was decreased (diastolic blood pressure, peripheral vascular resistance and end-systolic parietal stress ESPS. The cardiac index was increased due to the stroke volume. The ejection fraction and the percentage of the systolic shortening , as well as the systolic time intervals of the LV were equivalent. The isovolumetric contraction period of the LV was increased. The mitral E-septum distance and the end-systolic volume index (ESVi were increased. The ESPS/ESVi ratio,a loading independent parameter, was decreased in SCA, suggesting systolic dysfunction. No significant differences in the diastolic function or in the pulmonary pressure occurred. CONCLUSION: Chamber dilations, eccentric hypertrophy and systolic dysfunction confirm the evidence of the literature in characterizing a sickle cell anemia cardiomyopathy.

  2. Circulating endothelial cells: a potential parameter of organ damage in sickle cell anemia?

    NARCIS (Netherlands)

    Strijbos, Michiel H.; Landburg, Precious P.; Nur, Erfan; Teerlink, Tom; Leebeek, Frank W. G.; Rijneveld, Anita W.; Biemond, Bart J.; Sleijfer, Stefan; Gratama, Jan W.; Duits, Ashley J.; Schnog, John-John B.

    2009-01-01

    Objective laboratory tools are needed to monitor developing organ damage in sickle cell disease (SCD). Circulating endothelial cells (CECs) are indicative of vascular injury. We determined whether elevated CEC can be detected in asymptomatic SCD with the CellSearch system and whether the CEC count

  3. Can Neuroimaging Markers of Vascular Pathology Explain Cognitive Performance in Adults with Sickle Cell Anemia? A Review of the Literature

    Science.gov (United States)

    Jorgensen, Dana R.; Rosano, Caterina; Novelli, Enrico M.

    2017-01-01

    Adults with homozygous sickle cell anemia have, on average, lower cognitive function than unaffected controls. The mechanisms underlying cognitive deterioration in this population are poorly understood, but cerebral small vessel disease (CSVD) is likely to be implicated. We conducted a systematic review using the Prisma Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines of articles that included both measures of cognitive function and magnetic resonance imaging (MRI) neuroimaging markers of small vessel disease. While all five studies identified small vessel disease by MRI, only two of them found a significant relationship between structural changes and cognitive performance. Differences in methodologies and small sample sizes likely accounted for the discrepancies between the studies. We conclude that while MRI is a valuable tool to identify markers of CSVD in this population, larger studies are needed to definitely establish a link between MRI-detectable abnormalities and cognitive function in sickle cell anemia. PMID:27689914

  4. Alteration of Lymphocyte Phenotype and Function in Sickle Cell Anemia: Implications for Vaccine Responses

    Science.gov (United States)

    Balandya, Emmanuel; Reynolds, Teri; Obaro, Stephen; Makani, Julie

    2016-01-01

    Individuals with sickle cell anemia (SCA) have increased susceptibility to infections, secondary to impairment of immune function. Besides the described dysfunction in innate immunity, including impaired opsonization and phagocytosis of bacteria, evidence of dysfunction of T and B lymphocytes in SCA has also been reported. This includes reduction in the proportion of circulating CD4+ and CD8+ T cells, reduction of CD4+ helper : CD8+ suppressor T cell ratio, aberrant activation and dysfunction of regulatory T cells (Treg), skewing of CD4+ T cells towards Th2 response and loss of IgM-secreting CD27+IgMhighIgDlow memory B cells. These changes occur on the background of immune activation characterized by predominance of memory CD4+ T cell phenotypes, increased Th17 signaling and elevated levels of C-reactive protein and pro-inflammatory cytokines IL-6 and TNF-α, which may affect the immunogenicity and protective efficacy of vaccines available to prevent infections in SCA. Thus, in order to optimize the use of vaccines in SCA, a thorough understanding of T and B lymphocyte functions and vaccine reactivity among individuals with SCA is needed. Studies should be encouraged of different SCA populations, including sub-Saharan Africa where the burden of SCA is highest. This article summarizes our current understanding of lymphocyte biology in SCA, and highlights areas that warrant future research. PMID:27237467

  5. Risk Factors of Pulmonary Hypertension in Brazilian Patients with Sickle Cell Anemia.

    Science.gov (United States)

    Lobo, Clarisse Lopes de Castro; do Nascimento, Emilia Matos; Abelha, Renato; Queiroz, Ana Maria Mach; Connes, Philippe; Cardoso, Gilberto Perez; Ballas, Samir K

    2015-01-01

    This study was a prospective cross-sectional cohort study of 125 patients with sickle cell anemia (SS) between the ages of 16 to 60 years. Enrolled patients were followed-up prospectively for 15 months. Demographic, clinical, hematological and routine biochemical data were obtained on all patients. Six-minute walk test and Doppler Echocardiography were performed on all patients. A tricuspid regurgitant jet velocity (TRJV) 3.0 m/sec, severe. Patients with abnormal TRJV were significantly older and more anemic, had significantly higher lactate dehydrogenase (LDH) levels, reticulocyte count and incidence of death. The logistic multimodal model implemented for the 125 patients indicated that age was the covariate that influenced the outcome of normal or abnormal TRJV with a cutoff age of thirty-two years. The survival rate for the group of patients with creatinine (Cr) > 1.0 mg/dL was lower than the group with Cr ≤ 1 and normal TRJV. A coefficient matrix showed that the LDH values were weakly correlated with the reticulocyte count but strongly correlated with hemoglobin suggesting that the TRJV values were not correlated with the hemolytic rate but with anemia. Ten patients died during the follow-up of whom 7 had TRJV > 2.5 m/sec. Acute chest syndrome was the most common cause of death followed by sepsis. In conclusion, this study shows that patients with SS older than thirty-two years with high LDH, elevated TRJV, severe anemia and Cr > 1 have poor prognosis and may be at risk of having pulmonary hypertension and should undergo RHC.

  6. Risk Factors of Pulmonary Hypertension in Brazilian Patients with Sickle Cell Anemia.

    Directory of Open Access Journals (Sweden)

    Clarisse Lopes de Castro Lobo

    Full Text Available This study was a prospective cross-sectional cohort study of 125 patients with sickle cell anemia (SS between the ages of 16 to 60 years. Enrolled patients were followed-up prospectively for 15 months. Demographic, clinical, hematological and routine biochemical data were obtained on all patients. Six-minute walk test and Doppler Echocardiography were performed on all patients. A tricuspid regurgitant jet velocity (TRJV 3.0 m/sec, severe. Patients with abnormal TRJV were significantly older and more anemic, had significantly higher lactate dehydrogenase (LDH levels, reticulocyte count and incidence of death. The logistic multimodal model implemented for the 125 patients indicated that age was the covariate that influenced the outcome of normal or abnormal TRJV with a cutoff age of thirty-two years. The survival rate for the group of patients with creatinine (Cr > 1.0 mg/dL was lower than the group with Cr ≤ 1 and normal TRJV. A coefficient matrix showed that the LDH values were weakly correlated with the reticulocyte count but strongly correlated with hemoglobin suggesting that the TRJV values were not correlated with the hemolytic rate but with anemia. Ten patients died during the follow-up of whom 7 had TRJV > 2.5 m/sec. Acute chest syndrome was the most common cause of death followed by sepsis. In conclusion, this study shows that patients with SS older than thirty-two years with high LDH, elevated TRJV, severe anemia and Cr > 1 have poor prognosis and may be at risk of having pulmonary hypertension and should undergo RHC.

  7. Hyperemic peripheral red marrow in a patient with sickle cell anemia demonstrated on Tc-99m labeled red blood cell venography

    International Nuclear Information System (INIS)

    Heiden, R.A.; Locko, R.C.; Stent, T.R.

    1991-01-01

    A 25-year-old gravid woman, homozygous for sickle cell anemia, with a history of recent deep venous thrombosis, was examined using Tc-99m labeled red blood cell venography for recurrent thrombosis. Although negative for thrombus, the study presented an unusual incidental finding: the patient's peripheral bone marrow was hyperemic in a distribution consistent with peripheral red bone marrow expansion. Such a pattern has not been documented before using this technique. This report supports other literature that has demonstrated hyperemia of peripheral red bone marrow in other hemolytic anemias. This finding may ultimately define an additional role of scintigraphy in assessing the pathophysiologic status of the sickle cell patient

  8. Assessment of kidney function in sickle cell anemia patients in Zaria, Nigeria

    Directory of Open Access Journals (Sweden)

    Rasheed Yusuf

    2017-01-01

    Full Text Available Introduction: Sickle cell anemia (SCA patients are prone to kidney injury by various mechanisms including reduced blood flow, ischemia, and papillary necrosis. Sickle cell nephropathy may progress to end-stage renal disease with increased morbidity and mortality. Objective: To assess renal function tests and their relationship with kidney length in steady state SCA patients. Subjects and Methods: Seventy-four adult SCA patients in steady state and 20 hemoglobin AA controls were enrolled into the study. Serum urea, electrolytes, creatinine, and uric acid were assayed while estimated glomerular filtration rate (eGFR was calculated. Renal scan was also performed to assess the kidney length. Results: Serum potassium, phosphate, and uric acid were statistically significantly higher while sodium, chloride, bicarbonate, calcium, and eGFR were significantly lower in SCA patient than in controls (P < 0.05. eGFR of < 90 ml/min was found in 50 (67.6% of SCA patients out of which 7 (9.5% had Stage 3 chronic kidney disease (CKD (<60 ml/min and one patient with Stage 4 CKD who also had shrunken kidneys with elevated serum creatinine (203 μmol/L and urea (11.7 mmol/L concentration. Renal ultrasonography revealed reduced renal size in 20 (27.1% of the patients while 2 (2.7% had a renal enlargement. There was no correlation between renal length and serum electrolytes, urea, creatinine, and eGFR. Conclusion: The majority of steady state SCA patients in Zaria have reduced eGFR and dyselectrolytemia. However, there was no association between the kidney length and the biochemical parameters. We, thus, recommend renal function tests to be routinely requested for proper management of these patients.

  9. HYDROXYUREA TREATMENT DECREASES GLOMERULAR HYPERFILTRATION IN CHILDREN WITH SICKLE CELL ANEMIA

    Science.gov (United States)

    Aygun, Banu; Mortier, Nicole A.; Smeltzer, Matthew P.; Shulkin, Barry L.; Hankins, Jane S.; Ware, Russell E.

    2015-01-01

    Background Glomerular hyperfiltration and microalbuminuria/proteinuria are early manifestations of sickle nephropathy. The effects of hydroxyurea therapy on these renal manifestations of sickle cell anemia (SCA) are not well defined. Objective To investigate the effects of hydroxyurea on glomerular filtration rate (GFR) measured by 99mTc-DTPA clearance, and on microalbuminuria/proteinuria in children with SCA. Study Design Hydroxyurea Study of Long-Term Effects (HUSTLE) is a prospective study (NCT00305175) with the goal of describing the long-term cellular, molecular, and clinical effects of hydroxyurea therapy in SCA. Glomerular filtration rate, urine microalbumin, and serum cystatin C were measured before initiating hydroxyurea therapy and then repeated after 3 years. Baseline and Year 3 values for HUSTLE subjects were compared using the Wilcoxon Signed Rank test. Associations between continuous variables were evaluated using Spearman correlation coefficient. Results Twenty-three children with SCA (median age 7.5 years, range 2.5–14.0 years) received hydroxyurea at maximum tolerated dose (MTD, 24.4 ± 4.5 mg/kg/day, range 15.3–30.6 mg/kg/day). After three years of treatment, GFR measured by 99mTc-DTPA decreased significantly from 167 ± 46 mL/min/1.73m2 to 145 ± 27 mL/min/1.73m2 (p=0.016). This decrease in GFR was significantly associated with increase in fetal hemoglobin (p= 0.042) and decrease in lactate dehydrogenase levels (p=0.035). Urine microalbumin and cystatin C levels did not change significantly. Conclusions Hydroxyurea at MTD is associated with a decrease in hyperfiltration in young children with SCA. PMID:23255310

  10. Chronic inflammatory state in sickle cell anemia patients is associated with HBB(*)S haplotype.

    Science.gov (United States)

    Bandeira, Izabel C J; Rocha, Lillianne B S; Barbosa, Maritza C; Elias, Darcielle B D; Querioz, José A N; Freitas, Max Vitor Carioca; Gonçalves, Romélia P

    2014-02-01

    The chronic inflammatory state in sickle cell anemia (SCA) is associated with several factors such as the following: endothelial damage; increased production of reactive oxygen species; hemolysis; increased expression of adhesion molecules by leukocytes, erythrocytes, and platelets; and increased production of proinflammatory cytokines. Genetic characteristics affecting the clinical severity of SCA include variations in the hemoglobin F (HbF) level, coexistence of alpha-thalassemia, and the haplotype associated with the HbS gene. The different haplotypes of SCA are Bantu, Benin, Senegal, Cameroon, and Arab-Indian. These haplotypes are associated with ethnic groups and also based on the geographical origin. Studies have shown that the Bantu haplotype is associated with higher incidence of clinical complications than the other haplotypes and is therefore considered to have the worst prognosis. This study aimed to evaluate the profile of the proinflammatory cytokines interleukin-6, tumor necrosis factor-α, and interleukin-17 in patients with SCA and also to assess the haplotypes associated with beta globin cluster S (HBB(*)S). We analyzed a total of 62 patients who had SCA and had been treated with hydroxyurea; they had received a dose ranging between 15 and 25 (20.0±0.6)mg/kg/day for 6-60 (18±3.4)months; their data were compared with those for 30 normal individuals. The presence of HbS was detected and the haplotypes of the beta S gene cluster were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Our study demonstrated that SCA patients have increased inflammatory profile when compared to the healthy individuals. Further, analysis of the association between the haplotypes and inflammatory profile showed that the levels of IL-6 and TNF-α were greater in subjects with the Bantu/Bantu haplotype than in subjects with the Benin/Benin haplotype. The Bantu/Benin haplotype individuals had lower levels of cytokines than those with

  11. Understanding and Improving Health Education Among First-time Parents of Infants With Sickle Cell Anemia in Alabama: A Mixed Methods Approach

    Science.gov (United States)

    Lebensburger, Jeffrey D.; Grosse, Scott D.; Altice, Jessica L.; Thierry, JoAnn M.; Ivankova, Nataliya V.

    2015-01-01

    Summary With the increase in access to medical information, parents can acquire health information from multiple sources. An understanding of parents' reactions to a newborn infant's diagnosis of sickle cell anemia and how they acquire knowledge can identify parent beliefs and preferences about the process of sickle cell education. This study utilized a sequential exploratory mixed methods design. First, qualitative interviews were conducted with 8 parents of infants with sickle cell anemia to understand the process of health education. Second, quantitative surveys were conducted with 22 other parents to test qualitative findings. Parents of infants with sickle cell anemia expressed a high level of fear at the time of notification of a positive screen. Parents desired an understanding of how to identify acute complications of disease and how sickle cell will alter their child's life. Parents actively sought information at the time they were told their child had sickle cell disease. Sickle cell education should begin at time of notification of positive newborn screening results and address identified parent concerns. Health care providers should build trust with parents and provide them with immediate access to educational materials. Hematologists should work with primary care providers to develop complementary educational programs and resources. PMID:25072367

  12. A clinically meaningful fetal hemoglobin threshold for children with sickle cell anemia during hydroxyurea therapy.

    Science.gov (United States)

    Estepp, Jeremie H; Smeltzer, Matthew P; Kang, Guolian; Li, Chen; Wang, Winfred C; Abrams, Christina; Aygun, Banu; Ware, Russell E; Nottage, Kerri; Hankins, Jane S

    2017-12-01

    Hydroxyurea has proven clinical benefits and is recommended to be offered to all children with sickle cell anemia (SCA), but the optimal dosing regimen remains controversial. Induction of red blood cell fetal hemoglobin (HbF) by hydroxyurea appears to be dose-dependent. However, it is unknown whether maximizing HbF% improves clinical outcomes. HUSTLE (NCT00305175) is a prospective observational study with a primary goal of describing the long-term clinical effects of hydroxyurea escalated to maximal tolerated dose (MTD) in children with SCA. In 230 children, providing 610 patient-years of follow up, the mean attained HbF% at MTD was >20% for up to 4 years of follow-up. When HbF% values were ≤20%, children had twice the odds of hospitalization for any reason (P 20% was associated with fewer hospitalizations without significant toxicity. These data support the use of hydroxyurea in children, and suggest that the preferred dosing strategy is one that targets a HbF endpoint >20%. © 2017 Wiley Periodicals, Inc.

  13. Protein C and Antithrombin Levels in Patients with Sickle Cell ...

    African Journals Online (AJOL)

    function, the procoagulant, anticoagulant, and the fibrinolytic systems, are observed in sickle cell anemia (SCA) and are in favor of a procoagulant ... Abnormal exposure of phosphatidylserine (PS) in sickle .... Sickle cell disease and pulmonary.

  14. White Matter Damage Relates to Oxygen Saturation in Children With Sickle Cell Anemia Without Silent Cerebral Infarcts.

    Science.gov (United States)

    Kawadler, Jamie M; Kirkham, Fenella J; Clayden, Jonathan D; Hollocks, Matthew J; Seymour, Emma L; Edey, Rosanna; Telfer, Paul; Robins, Andrew; Wilkey, Olu; Barker, Simon; Cox, Tim C S; Clark, Chris A

    2015-07-01

    Sickle cell anemia is associated with compromised oxygen-carrying capability of hemoglobin and a high incidence of overt and silent stroke. However, in children with no evidence of cerebral infarction, there are changes in brain morphometry relative to healthy controls, which may be related to chronic anemia and oxygen desaturation. A whole-brain tract-based spatial statistics analysis was carried out in 25 children with sickle cell anemia with no evidence of abnormality on T2-weighted magnetic resonance imaging (13 male, age range: 8-18 years) and 14 age- and race-matched controls (7 male, age range: 10-19 years) to determine the extent of white matter injury. The hypotheses that white matter damage is related to daytime peripheral oxygen saturation and steady-state hemoglobin were tested. Fractional anisotropy was found to be significantly lower in patients in the subcortical white matter (corticospinal tract and cerebellum), whereas mean diffusivity and radial diffusivity were higher in patients in widespread areas. There was a significant negative relationship between radial diffusivity and oxygen saturation (Plevel negative relationship between radial diffusivity and hemoglobin (Pcell anemia, and provides for the first time direct evidence of a relationship between brain microstructure and markers of disease severity (eg, peripheral oxygen saturation and steady-state hemoglobin). This study suggests that diffusion tensor imaging metrics may serve as a biomarker for future trials of reducing hypoxic exposure. © 2015 American Heart Association, Inc.

  15. Epidemiology and treatment of relative anemia in children with sickle cell disease in sub-Saharan Africa.

    Science.gov (United States)

    Bello-Manga, Halima; DeBaun, Michael R; Kassim, Adetola A

    2016-11-01

    Sickle cell disease (SCD) is the most common inherited hemoglobinopathy in the world, with the majority of cases in sub-Saharan Africa. Concomitant nutritional deficiencies, infections or exposure to environmental toxins exacerbate chronic anemia in children with SCD. The resulting relative anemia is associated with increased risk of strokes, poor cognitive function and impaired growth. It may also attenuate optimal response to hydroxyurea therapy, the only effective and practical treatment option for SCD in sub-Saharan Africa. This review will focus on the epidemiology, clinical sequelae, and treatment of relative anemia in children with SCD living in low and middle-income countries in sub-Saharan Africa. Areas covered: The causes and treatment of relative anemia in children with SCD in sub-Saharan Africa. The MEDLINE database was searched using medical subject headings (MeSH) and keywords for articles regarding relative anemia in children with SCD in sub-Saharan Africa. Expert commentary: Anemia due to nutritional deficiencies and infectious diseases such as helminthiasis and malaria are prevalent in sub-Saharan Africa. Their co-existence in children with SCD increases morbidity and mortality. Therefore, preventing, diagnosing and treating the underlying cause of this relative anemia will improve SCD-related outcomes in children in sub-Saharan Africa.

  16. Hematogenous osteoarticular infections of the hand and the wrist in children with sickle cell anemia: preliminary report.

    Science.gov (United States)

    Tordjman, Daniel; Holvoet, Laurent; Benkerrou, Malika; Ilharreborde, Brice; Mazda, Keyvan; Penneçot, Georges F; Fitoussi, Frank

    2014-01-01

    Hematogenous osteoarticular infections of the hand and the wrist in children with sickle cell anemia are rare and no specific studies for this location have been published. This retrospective and comparative study reviewed 34 children who carry the diagnosis of osteoarticular infections of the wrist and the hand at our institution during a 10-year period extending from January 2000 to December 2010. The first group included 8 patients with sickle cell anemia (Hg SS). The second group or control group included 26 children without sickle cell disease or any immune deficiency. Differences between groups were established by χ tests. The most common site of osteomyelitis for the sickle cell group was the metacarpals and the fingers phalanx (87.5%) whereas the most common site for the control group was the wrist and the carpus (96.2%; P<0.005).The most common pathogens responsible for osteomyelitis was Salmonella sp. (37.5%) for children with SCD, whereas it was Staphylococcus aureus (70%) for the nonsicklers. There was a significant difference between both groups regarding the treatment. Indeed, a surgical procedure was needed for the sickle cell group in all cases (100%) whereas a surgical debridement was needed in only 19.2% patients in the control group (P<0.001). At long-term follow-up, there were more long-term complications in the sickle cell group (62.5%) with epiphysiodesis of the metacarpals and metacarpophalangeal joint destruction whereas only 11.5% cases with complications were present in the control group including distal ulna epiphysiodesis, proximal interphalangeal joint stiffness, and a central radius epiphysiodesis (P<0.004). Our results confirm the severity of hand osteomyelitis in patients with sickle cell disease. A systematic approach is needed to perform early diagnosis and treatment. Identification of the causative organism is required (blood culture, bone aspiration). With antibiotic therapy, surgical treatment is the rule. Parents have to be

  17. Multi-color phase imaging and sickle cell anemia (Conference Presentation)

    Science.gov (United States)

    Hosseini, Poorya; Zhou, Renjie; Yaqoob, Zahid; So, Peter T. C.

    2016-03-01

    Quantitative phase measurements at multiple wavelengths has created an opportunity for exploring new avenues in phase microscopy such as enhancing imaging-depth (1), measuring hemoglobin concentrations in erythrocytes (2), and more recently in tomographic mapping of the refractive index of live cells (3). To this end, quantitative phase imaging has been demonstrated both at few selected spectral points as well as with high spectral resolution (4,5). However, most of these developed techniques compromise imaging speed, field of view, or the spectral resolution to perform interferometric measurements at multiple colors. In the specific application of quantitative phase in studying blood diseases and red blood cells, current techniques lack the required sensitivity to quantify biological properties of interest at individual cell level. Recently, we have set out to develop a stable quantitative interferometric microscope allowing for measurements of such properties for red cells without compromising field of view or speed of the measurements. The feasibility of the approach will be initially demonstrated in measuring dispersion curves of known solutions, followed by measuring biological properties of red cells in sickle cell anemia. References: 1. Mann CJ, Bingham PR, Paquit VC, Tobin KW. Quantitative phase imaging by three-wavelength digital holography. Opt Express. 2008;16(13):9753-64. 2. Park Y, Yamauchi T, Choi W, Dasari R, Feld MS. Spectroscopic phase microscopy for quantifying hemoglobin concentrations in intact red blood cells. Opt Lett. 2009;34(23):3668-70. 3. Hosseini P, Sung Y, Choi Y, Lue N, Yaqoob Z, So P. Scanning color optical tomography (SCOT). Opt Express. 2015;23(15):19752-62. 4. Jung J-H, Jang J, Park Y. Spectro-refractometry of individual microscopic objects using swept-source quantitative phase imaging. Anal Chem. 2013;85(21):10519-25. 5. Rinehart M, Zhu Y, Wax A. Quantitative phase spectroscopy. Biomed Opt Express. 2012;3(5):958-65.

  18. Pharmacokinetics, pharmacodynamics, and pharmacogenetics of hydroxyurea treatment for children with sickle cell anemia

    Science.gov (United States)

    Despotovic, Jenny M.; Mortier, Nicole A.; Flanagan, Jonathan M.; He, Jin; Smeltzer, Matthew P.; Kimble, Amy C.; Aygun, Banu; Wu, Song; Howard, Thad; Sparreboom, Alex

    2011-01-01

    Hydroxyurea therapy has proven laboratory and clinical efficacies for children with sickle cell anemia (SCA). When administered at maximum tolerated dose (MTD), hydroxyurea increases fetal hemoglobin (HbF) to levels ranging from 10% to 40%. However, interpatient variability of percentage of HbF (%HbF) response is high, MTD itself is variable, and accurate predictors of hydroxyurea responses do not currently exist. HUSTLE (NCT00305175) was designed to provide first-dose pharmacokinetics (PK) data for children with SCA initiating hydroxyurea therapy, to investigate pharmacodynamics (PD) parameters, including HbF response and MTD after standardized dose escalation, and to evaluate pharmacogenetics influences on PK and PD parameters. For 87 children with first-dose PK studies, substantial interpatient variability was observed, plus a novel oral absorption phenotype (rapid or slow) that influenced serum hydroxyurea levels and total hydroxyurea exposure. PD responses in 174 subjects were robust and similar to previous cohorts; %HbF at MTD was best predicted by 5 variables, including baseline %HbF, whereas MTD was best predicted by 5 variables, including serum creatinine. Pharmacogenetics analysis showed single nucleotide polymorphisms influencing baseline %HbF, including 5 within BCL11A, but none influencing MTD %HbF or dose. Accurate prediction of hydroxyurea treatment responses for SCA remains a worthy but elusive goal. PMID:21876119

  19. Hydroxyurea for sickle cell anemia: What have we learned and what questions still remain?

    Science.gov (United States)

    McGann, Patrick T.; Ware, Russell E.

    2011-01-01

    Purpose of review Sickle cell anemia (SCA) is a well-characterized severe hematological disorder with substantial morbidity and early mortality. Hydroxyurea is a potent inducer of fetal hemoglobin, and evidence over the past 25 years has documented its laboratory and clinical efficacy for both adults and children with SCA. Recent findings The Phase III study of hydroxyurea in infants (BABY HUG) has just been completed and preliminary results indicate equivocal benefits for organ protection during the two-year treatment period, but significant benefits for pain, acute chest syndrome, hospitalizations, and transfusions. Three new reports document the benefits of hydroxyurea on reducing mortality in SCA: two adult trials (LaSHS and MSH) and one pediatric study (Brazilian cohort). Recent results from the HUSTLE protocol suggest minimal genotoxicity or carcinogenicity with long-term hydroxyurea exposure. Summary The potential utility of hydroxyurea for all patients with SCA is clear and indisputable. With decades of accumulated evidence and documented efficacy with an acceptable long-term safety profile, it is time to consider hydroxyurea treatment the standard of care for all young patients with SCA. Exporting our knowledge and experience with hydroxyurea to developing nations with large medical burdens from SCA can help relieve global suffering from this condition. PMID:21372708

  20. How I use hydroxyurea to treat young patients with sickle cell anemia

    Science.gov (United States)

    2010-01-01

    Hydroxyurea has many characteristics of an ideal drug for sickle cell anemia (SCA) and provides therapeutic benefit through multiple mechanisms of action. Over the past 25 years, substantial experience has accumulated regarding its safety and efficacy for patients with SCA. Early proof-of-principle studies were followed by prospective phase 1/2 trials demonstrating efficacy in affected adults, then adolescents and children, and more recently infants and toddlers. The phase 3 National Heart, Lung and Blood Institute–sponsored Multicenter Study of Hydroxyurea trial proved clinical efficacy for preventing acute vaso-occlusive events in severely affected adults. Based on this cumulative experience, hydroxyurea has emerged as an important therapeutic option for children and adolescents with recurrent vaso-occlusive events; recent evidence documents sustained long-term benefits with prevention or reversal of chronic organ damage. Despite abundant evidence for its efficacy, however, hydroxyurea has not yet translated into effective therapy for SCA. Because many healthcare providers have inadequate knowledge about hydroxyurea, patients and families are not offered treatment or decline because of unrealistic fears. Limited support for hydroxyurea by lay organizations and inconsistent medical delivery systems also contribute to underuse. Although questions remain regarding its long-term risks and benefits, current evidence suggests that many young patients with SCA should receive hydroxyurea treatment. PMID:20223921

  1. From infancy to adolescence: fifteen years of continuous treatment with hydroxyurea in sickle cell anemia.

    Science.gov (United States)

    Hankins, Jane S; Aygun, Banu; Nottage, Kerri; Thornburg, Courtney; Smeltzer, Matthew P; Ware, Russell E; Wang, Winfred C

    2014-12-01

    Despite documented laboratory and clinical benefits of hydroxyurea for children with sickle cell anemia (SCA), the drug's long-term safety and efficacy remains poorly defined. The HUSOFT trial and extension study examined feasibility, toxicity, and hematological efficacy of hydroxyurea in infants with SCA. This report describes HUSOFT participants who have continued hydroxyurea therapy for 15 years. With IRB approval, medical records were reviewed for clinical, laboratory, and growth parameters. Twenty-eight infants enrolled in the original 2-year HUSOFT study received open-label liquid hydroxyurea at 20 mg/kg/day; 17 completed the extension study with dose escalation to 30 mg/kg/day. Eight of these 17 (6 girls and 2 boys, all HbSS) have continued on daily hydroxyurea for at least 15 years (median age at last follow-up 17.6 years) without interruption. All hematologic indices (Hb concentration, mean corpuscular volume (MCV), fetal hemoglobin) showed sustained effect after 15 years. The median maximum tolerated dose of hydroxyurea has decreased from 30 to 26 mg/kg/day (range 19.5-31.2); neutropenia [absolute neutrophil count (ANC)hydroxyurea therapy since infancy appears safe and efficacious in SCA.

  2. COMPARISON OF REAL-TIME MICROVASCULAR ABNORMALITIES IN PEDIATRIC AND ADULT SICKLE CELL ANEMIA PATIENTS

    Science.gov (United States)

    Cheung, Anthony T.W.; Miller, Joshua W.; Craig, Sarah M.; To, Patricia L.; Lin, Xin; Samarron, Sandra L.; Chen, Peter C.Y.; Zwerdling, Theodore; Wun, Ted; Li, Chin-Shang; Green, Ralph

    2010-01-01

    The conjunctival microcirculation in 14 pediatric and 8 adult sickle cell anemia (SCA) patients was studied using computer-assisted intravital microscopy. The bulbar conjunctiva in SCA patients in both age groups exhibited a blanched/avascular appearance characterized by decreased vascularity. SCA patients from both age groups had many of the same abnormal morphometric {vessel diameter, vessel distribution, morphometry (shape), tortuosity, arteriole:venule (A:V) ratio, and hemosiderin deposits} and dynamic {vessel sludging/sludged flow, boxcar blood (trickled) flow and abnormal flow velocity} abnormalities. A severity index (SI) was computed to quantify the degree of vasculopathy for comparison between groups. The severity of vasculopathy differed significantly between the pediatric and adult patients (SI: 4.2 ± 1.8 vs 6.6 ± 2.4; p=0.028), indicative of a lesser degree of overall severity in the pediatric patients. Specific abnormalities that were less prominent in the pediatric patients included abnormal vessel morphometry and tortuosity. Sludged flow, abnormal vessel distribution, abnormal A:V ratio, and boxcar flow, appeared in high prevalence in both age groups. The results indicate that SCA microvascular abnormalities develop in childhood and the severity of vasculopathy likely progresses with age. Intervention and effective treatment/management modalities should target pediatric patients to ameliorate, slow down or prevent progressive microvascular deterioration. PMID:20872552

  3. Biventricular function in sickle-cell anemia: radionuclide angiographic and thallium-201 scintigraphic evaluation

    International Nuclear Information System (INIS)

    Manno, B.V.; Burka, E.R.; Hakki, A.H.; Manno, C.S.; Iskandrian, A.S.; Noone, A.M.

    1983-01-01

    Left ventricular (LV) and right ventricular (RV) function were evaluated at rest and during exercise using radionuclide ventriculography in 10 patients, aged 19-53 years, with sickle-cell anemia (SCA). Seven patients were in New York Heart Association functional class I and 3 were in class II. The resting LV ejection fraction (EF) was normal in 9 patients and the resting RVEF was normal in 4. LV dilation and high cardiac output were observed in 6 patients at rest. The LVEF during exercise was normal in all 10 patients, whereas only 2 patients had normal RVEF at rest and during exercise. The LVEF was lower in patients with SCA at rest (54 +/- 4% versus 61 +/- 6%, p less than 0.001) and exercise (66 +/- 4% versus 74 +/- 6%, p less than 0.001) than in 42 age-matched normal subjects. Rest thallium-201 images from 9 patients showed abnormal RV uptake in 8 and normal LV uptake in 8. Thus, in adult patients with SCA, LV function was normal during exercise in all patients and at rest in all but 1 patient. The LVEF, however, was lower than that in age-matched normal subjects. RV function was abnormal in most patients at rest and during exercise. RV thallium-201 uptake suggested pressure or volume overload (or both), most likely due to pulmonary vaso-occlusive complications of the disease

  4. Abnormal autonomic cardiac response to transient hypoxia in sickle cell anemia

    International Nuclear Information System (INIS)

    Sangkatumvong, S; Khoo, M C K; Coates, T D

    2008-01-01

    The objective of this study was to non-invasively assess cardiac autonomic control in subjects with sickle cell anemia (SCA) by tracking the changes in heart rate variability (HRV) that occur following brief exposure to a hypoxic stimulus. Five African–American SCA patients and seven healthy control subjects were recruited to participate in this study. Each subject was exposed to a controlled hypoxic stimulus consisting of five breaths of nitrogen. Time-varying spectral analysis of HRV was applied to estimate the cardiac autonomic response to the transient episode of hypoxia. The confounding effects of changes in respiration on the HRV spectral indices were reduced by using a computational model. A significant decrease in the parameters related to parasympathetic control was detected in the post-hypoxic responses of the SCA subjects relative to normal controls. The spectral index related to sympathetic activity, on the other hand, showed a tendency to increase the following hypoxic stimulation, but the change was not significant. This study suggests that there is some degree of cardiovascular autonomic dysfunction in SCA that is revealed by the response to transient hypoxia

  5. Interleukin-1β and interleukin-6 gene polymorphisms are associated with manifestations of sickle cell anemia.

    Science.gov (United States)

    Vicari, Perla; Adegoke, Samuel A; Mazzotti, Diego Robles; Cançado, Rodolfo Delfini; Nogutti, Maria Aparecida Eiko; Figueiredo, Maria Stella

    2015-03-01

    Sickle cell anemia (SCA), a disorder characterized by both acute and chronic inflammation, exhibits substantial phenotypic variability. Interleukin-1 beta (IL-1β) and IL-6 are important in acute and chronic diseases, and their single nucleotide polymorphisms (SNPs) have been considered as predictors of prognosis in several inflammatory conditions. This study aims at exploring possible association of IL-1β and IL-6 SNPs as potential genetic modifiers and or predictors of SCA clinical and laboratory phenotypes. This cross-sectional study involved 107 SCA patients and 110 age, sex and ethnicity-matched healthy individuals. The SNPs were identified by PCR-RFLP for IL-1β (-511C>T and +3954C>T) and IL-6 (-597G>A and -174G>C) genes. Associations between these SNPs and the clinical and laboratory profiles of patients with SCA were then determined. Allelic and genotypic frequencies of IL-1β and IL-6 SNPs between patients with SCA and controls were similar and followed HWE. IL-1β +3954C>T SNP was associated with increased risk of osteonecrosis, elevated pulmonary arterial pressure and lower absolute reticulocyte count, while IL-6 -597G>A was associated with higher likelihood of retinopathy and leg ulcer. These data indicate that IL-1β and IL-6 gene SNPs are associated with SCA complications among Brazilian patients and may act as genetic predictors of SCA clinical heterogeneity. Copyright © 2014 Elsevier Inc. All rights reserved.

  6. Chronic and acute anemia and extracranial internal carotid stenosis are risk factors for silent cerebral infarcts in sickle cell anemia.

    Science.gov (United States)

    Bernaudin, Françoise; Verlhac, Suzanne; Arnaud, Cécile; Kamdem, Annie; Vasile, Manuela; Kasbi, Florence; Hau, Isabelle; Madhi, Fouad; Fourmaux, Christine; Biscardi, Sandra; Epaud, Ralph; Pondarré, Corinne

    2015-03-05

    Early transcranial Doppler (TCD) screening of the Créteil sickle cell anemia (SCA)-newborn cohort, and rapid initiation of transfusion programs, resulted in successful prevention of overt strokes, but a high cumulative risk of silent cerebral infarcts (SCI) remained, suggesting that TCD screening does not identify all patients with SCA at risk for SCI. We hypothesized that episodes of hypoperfusion/hypoxia, as observed during acute chest syndromes or acute anemic events (AAE), and extracranial internal carotid artery (eICA) stenoses, detectable via submandibular Doppler sonography and cervical magnetic resonance angiography (MRA), could also be risk factors for SCI. This study includes 189 stroke-free patients with SCA from the Créteil newborn cohort (1992-2010) followed longitudinally by magnetic resonance imaging/MRA, including cervical MRA at the last assessment. All patients with abnormal TCD and/or intracranial stenoses were placed on a transfusion program. Mean follow-up was 9.9 years (range, 2.2-19.9 years; 1844 patient-years). Annual rates of clinical events were calculated. The cumulative risk for SCI was 39.1% (95% confidence interval [CI], 23.5%-54.7%) by age 18 years, with no plateau. We confirm that baseline hemoglobin level lower than 7 g/dL before age 3 years is a highly significant predictive risk factor for SCI (hazard ratio, 2.97; 95% CI, 1.43-6.17; P = .004). Furthermore, we show that AAE rate (odds ratio, 2.64 per unit increase; 95% CI, 1.09-6.38; P = .031) and isolated eICA stenosis (odds ratio, 3.19; 95% CI, 1.18-8.70; P = .023) are significant and independent risk factors for SCI. © 2015 by The American Society of Hematology.

  7. Simultaneous point-of-care detection of anemia and sickle cell disease in Tanzania: the RAPID study.

    Science.gov (United States)

    Smart, Luke R; Ambrose, Emmanuela E; Raphael, Kevin C; Hokororo, Adolfine; Kamugisha, Erasmus; Tyburski, Erika A; Lam, Wilbur A; Ware, Russell E; McGann, Patrick T

    2018-02-01

    Both anemia and sickle cell disease (SCD) are highly prevalent across sub-Saharan Africa, and limited resources exist to diagnose these conditions quickly and accurately. The development of simple, inexpensive, and accurate point-of-care (POC) assays represents an important advance for global hematology, one that could facilitate timely and life-saving medical interventions. In this prospective study, Robust Assays for Point-of-care Identification of Disease (RAPID), we simultaneously evaluated a POC immunoassay (Sickle SCAN™) to diagnose SCD and a first-generation POC color-based assay to detect anemia. Performed at Bugando Medical Center in Mwanza, Tanzania, RAPID tested 752 participants (age 1 day to 20 years) in four busy clinical locations. With minimally trained medical staff, the SCD POC assay diagnosed SCD with 98.1% sensitivity and 91.1% specificity. The hemoglobin POC assay had 83.2% sensitivity and 74.5% specificity for detection of severe anemia (Hb ≤ 7 g/dL). Interobserver agreement was excellent for both POC assays (r = 0.95-0.96). Results for the hemoglobin POC assay have informed the second-generation assay design to be more suitable for low-resource settings. RAPID provides practical feasibility data regarding two novel POC assays for the diagnosis of anemia and SCD in real-world field evaluations and documents the utility and potential impact of these POC assays for sub-Saharan Africa.

  8. Asymptomatic bacteriuria in children with sickle cell anemia at The University of Nigeria teaching hospital, Enugu, South East, Nigeria

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    Ikefuna Anthony N

    2011-09-01

    Full Text Available Abstract Background Urinary tract infection (UTI is a common cause of childhood morbidity and mortality in the tropics. Children with sickle cell anemia (SCA may have compromised kidney function arising from repeated vaso-occlusive episodes and recurrent symptomatic or asymptomatic UTI. Objectives This study aims at determining the prevalence of asymptomatic bacteriuria and sensitivity pattern in children with homozygous sickle haemoglobin compared to children with normal haemoglobin. Methods One hundred children with SCA in stable state and 100 children with normal haemoglobin aged 2-12 years were screened for asymptomatic bacteriuria using midstream urine samples. The samples were incubated aerobically at 37°C for 24 hours within one hour of collection. Children whose urine samples yielded significant bacteriuria (≥105cfu/ml on two consecutive cultures were regarded as having asymptomatic bacteriuria. Results Asymptomatic bacteriuria was noted in 6% of children with SCA and occurred more in females than males (F: M = 5:1 when compared to 2% in children with normal haemoglobin. Escherichia coli was the commonest organism isolated (33.3%. All the organisms were resistant to co-trimoxazole and ampicillin while most were sensitive to gentamicin, ceftriaxone and the quinolones. Conclusion The risk of asymptomatic bacteriuria is three times more common in children with sickle cell anemia than in children with normal haemoglobin. It is therefore important to screen SCA patients, especially the females for UTI and should be treated according to the sensitivity result of the cultured organisms.

  9. Association of classical markers and establishment of the dyslipidemic sub-phenotype of sickle cell anemia.

    Science.gov (United States)

    Aleluia, Milena Magalhães; da Guarda, Caroline Conceição; Santiago, Rayra Pereira; Fonseca, Teresa Cristina Cardoso; Neves, Fábia Idalina; de Souza, Regiana Quinto; Farias, Larissa Alves; Pimenta, Felipe Araújo; Fiuza, Luciana Magalhães; Pitanga, Thassila Nogueira; Ferreira, Júnia Raquel Dutra; Adorno, Elisângela Vitória; Cerqueira, Bruno Antônio Veloso; Gonçalves, Marilda de Souza

    2017-04-11

    Sickle cell anemia (SCA) patients exhibit sub-phenotypes associated to hemolysis and vaso-occlusion. The disease has a chronic inflammatory nature that has been also associated to alterations in the lipid profile. This study aims to analyze hematological and biochemical parameters to provide knowledge about the SCA sub-phenotypes previously described and suggest a dyslipidemic sub-phenotype. A cross-sectional study was conducted from 2013 to 2014, and 99 SCA patients in steady state were enrolled. We assessed correlations and associations with hematological and biochemical data and investigated the co-inheritance of -α 3.7Kb -thalassemia (-α 3.7Kb -thal). Correlation analyses were performed using Spearman and Pearson coefficient. The median of quantitative variables between two groups was compared using t-test and Mann-Whitney. P-values <0.05 were considered statistically significant. We found significant association of high lactate dehydrogenase levels with decreased red blood cell count and hematocrit as well as high levels of total and indirect bilirubin. SCA patients with low nitric oxide metabolites had high total cholesterol, high-density lipoprotein cholesterol, and low-density lipoprotein cholesterol and reduced very low-density cholesterol, triglycerides, direct bilirubin level and reticulocyte counts. In SCA patients with high-density lipoprotein cholesterol greater than 40 mg/dL, we observed increased red blood cell count, hemoglobin, hematocrit, and fetal hemoglobin and decreased nitric oxide metabolites levels. The presence of -α 3.7Kb -thal was associated with high red blood cell count and low mean corpuscular volume, mean corpuscular hemoglobin, platelet count and total and indirect bilirubin levels. Our results provide additional information about the association between biomarkers and co-inheritance of -α 3.7Kb -thal in SCA, and suggest the role of dyslipidemia and nitric oxide metabolites in the characterization of this sub-phenotype.

  10. Increased circulating fibrocytes are associated with higher reticulocyte percent in children with sickle cell anemia.

    Science.gov (United States)

    Karafin, Matthew S; Dogra, Shibani; Rodeghier, Mark; Burdick, Marie; Mehrad, Borna; Rose, C Edward; Strieter, Robert M; DeBaun, Michael R; Strunk, Robert C; Field, Joshua J

    2016-03-01

    Interstitial lung disease is common in patients with sickle cell anemia (SCA). Fibrocytes are circulating cells implicated in the pathogenesis of pulmonary fibrosis and airway remodeling in asthma. In this study, we tested the hypotheses that fibrocyte levels are: (1) increased in children with SCA compared to healthy controls, and (2) associated with pulmonary disease. Cross-sectional cohort study of children with SCA who participated in the Sleep Asthma Cohort Study. Fibrocyte levels were obtained from 45 children with SCA and 24 controls. Mean age of SCA cases was 14 years and 53% were female. In children with SCA, levels of circulating fibrocytes were greater than controls (P < 0.01). The fibrocytes expressed a hierarchy of chemokine receptors, with CXCR4 expressed on the majority of cells and CCR2 and CCR7 expressed on a smaller subset. Almost half of fibrocytes demonstrated α-smooth muscle actin activation. Increased fibrocyte levels were associated with a higher reticulocyte count (P = 0.03) and older age (P = 0.048) in children with SCA. However, children with increased levels of fibrocytes were not more likely to have asthma or lower percent predicted forced expiratory volume in 1 sec/forced vital capacity (FEV1 /FVC) or FEV1 than those with lower fibrocyte levels. Higher levels of fibrocytes in children with SCA compared to controls may be due to hemolysis. Longitudinal studies may be able to better assess the relationship between fibrocyte level and pulmonary dysfunction. © 2015 Wiley Periodicals, Inc.

  11. Assessment of genotoxicity associated with hydroxyurea therapy in children with sickle cell anemia

    Science.gov (United States)

    Flanagan, Jonathan M.; Howard, Thad A.; Mortier, Nicole; Avlasevich, Svetlana L.; Smeltzer, Matthew P.; Wu, Song; Dertinger, Stephen D.; Ware, Russell E.

    2018-01-01

    Hydroxyurea induces fetal hemoglobin, improves laboratory parameters, and ameliorates clinical complications of sickle cell anemia (SCA), but its long-term efficacy and safety in this patient population remain incompletely defined. Although generally considered non-DNA reactive, an important safety concern is that hydroxyurea may indirectly cause genotoxic damage. To better address this safety issue of hydroxyurea in patients with SCA, we measured the production of micronuclei (MN) in red blood cells (RBC) as a marker of genotoxicity. Blood samples were collected from children with SCA enrolled in the Hydroxyurea Study of Long-term Effects (ClinicalTrials.gov NCT00305175). Flow cytometry quantified circulating MN-containing erythrocyte sub-populations before and during hydroxyurea exposure. The frequency of micronucleated reticulocytes (MN-CD71+) and micronucleated mature erythrocytes (MN-RBC) were then tested for associations with laboratory and clinical data. In cross-sectional analysis of 293 blood samples from 105 children with SCA and a median of 2 years of hydroxyurea therapy, exposure to hydroxyurea was associated with significantly increased frequencies of MN-CD71+ and MN-RBC compared to baseline. The increases were evident by 3 months of therapy, and did not escalate further with up to 12 years of continuous drug exposure. In prospective longitudinal analysis, substantial inter-individual variation in the effect of hydroxyurea on %MN-CD71+ was observed that was associated with the expected laboratory effects of hydroxyurea. In conclusion, clinically relevant exposure to hydroxyurea is associated with increased MN production consistent with erythroblast genotoxicity but with substantial inter-patient variability. Associations between increased %MN-CD71+ and laboratory benefits suggest that hydroxyurea effects on MN production may be related to individual patient sensitivity to hydroxyurea within the bone marrow. PMID:20230905

  12. Delayed hemolytic transfusion reaction presenting as a painful crisis in a patient with sickle cell anemia.

    Science.gov (United States)

    Fabron, A; Moreira, G; Bordin, J O

    1999-01-07

    Patients with sickle cell anemia (SCA) are frequently transfused with red blood cells (RBC). Recently we reported that the calculated risk of RBC alloimmunization per transfussed unit in Brazilian patients with SCA is 1.15%. We describe a delayed hemolytic transfusion reaction (DHTR) presenting as a painful crisis in a patient with SCA. A 35-year-old Brazilian female with homozygous SCA was admitted for a program of partial exchange transfusion prior to cholecystectomy. Her blood group was O RhD positive and no atypical RBC alloantibody was detected using the indirect antiglobulin technique. Pre-transfusional hemoglobin (Hb) was 8.7 g/dL and isovolumic partial exchange transfusion was performed using 4 units of ABO compatible packed RBC. Five days after the last transfusion she developed generalized joint pain and fever of 39 degrees C. Her Hb level dropped from 12.0 g/dL to 9.3 g/dL and the unconjugated bilirrubin level rose to 27 mmol/L. She was jaundiced and had hemoglobinuria. Hemoglobin electrophoresis showed 48.7% HbS, 46.6% HbA1, 2.7% HbA2, and 2.0% HbF. The patient's extended RBC phenotype was CDe, K-k+, Kp(a-b+), Fy(a-b-), M+N+s+, Le(a+b-), Di(a-). An RBC alloantibody with specificity to the Rh system (anti-c, titer 1:16.384) was identified by the indirect antiglobulin test. The Rh phenotype of the RBC used in the last packed RBC transfusion was CcDEe. The patient was discharged, asymptomatic, 7 days after admission.

  13. Clinical and molecular characteristics of sickle cell anemia in the northeast of Brazil

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    Elisângela Vitória Adorno

    2008-01-01

    Full Text Available Beta S-globin gene (βS-globin haplotypes, markers for severe sickle cell anemia (SCA, and the alpha-thalassemia 2 gene 3.7 kb deletion (-α2(3.7 kb thal along with demographic and clinical data were investigated in SCA outpatients (n = 125, 63 female and 62 male in the Brazilian state of Bahia, which has a high prevalence SCA. PCR-RFLP showed that the Central African Republic/Benin (CAR/BEN, 51.2% haplotype was most frequent, followed by the Benin/Benin (Ben/Ben, 28.8%. At least one CAR haplotype was present in every outpatient with a history of cerebrovascular accident. The Cameroon (Cam, Senegal (Sen and Arab-India haplotypes occurred in small numbers, as did atypical haplotypes. Fetal hemoglobin (HbF, % was unevenly distributed. Compared to those > 18 y, those aged < 18 y had had fewer erythrocyte transfusions and high HbF levels (12.3% ± 7.01 to 7.9% ± 4.36 but a higher frequency of spleen sequestration and pneumonia. Compared with normal α - genes carriers values, the outpatients with -α2(3.7 kb thal (determined by PCR analysis had significantly higher mean hemoglobin concentration (Hb (8.3 ± 1.34 g/dL, p = 0.018 and packed cell volume (PCV = 27.1% ± 4.26, p = 0.019 but low mean corpuscular volume (MCV = 86.1 fL = 10-15 L ± 9.56, p = 0.0004 and mean corpuscular hemoglobin (MCH = 26.6% ± 4.60, p = 0.039.

  14. Helicobacter pylori gastritis in a child with sickle cell anemia and recurrent abdominal pain.

    Science.gov (United States)

    Kennedy, L; Mahoney, D H; Redel, C A

    1997-01-01

    Recurrent abdominal pain is a common complaint in children with sickle cell disease. Helicobacter pylori gastritis has recently been described in association with recurrent abdominal pain in children. A case report is given of a 16-year-old black male with hemoglobin SS disease presenting with recurrent abdominal pain and hematemesis. Endoscopic exam of the upper gastrointestinal tract revealed gastritis, and biopsy confirmed H. pylori infection. Serology studies demonstrated increased anti-H. pylori antibody titers. The young man responded well to treatment, with resolution of his symptoms. Helicobacter pylori infection is a new diagnostic consideration for children with recurrent abdominal pain and should be included in the differential diagnosis of children with sickle cell disease, especially when abdominal pain is recurrent and accompanied by vomiting. Larger case studies will be necessary to determine the true incidence of H. pylori in children with sickle cell disease and recurrent abdominal pain.

  15. Hormonal and echocardiographic abnormalities in adult patients with sickle-cell anemia in Bahrain

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    Garadah TS

    2016-12-01

    Full Text Available Taysir S Garadah,1,2 Ahmed A Jaradat,3 Mohammed E Alalawi,1 Adla B Hassan2 1Cardiac Unit, Salmaniya Medical Complex, Ministry of Health, 2Department of Internal Medicine, College of Medicine and Medical Sciences, Arabian Gulf University, Manama, 3Department of Family and Community Medicine, Arabian Gulf University, Manama, Bahrain Background: Adrenal, thyroid, and parathyroid gland hormonal changes are recognized in children with homozygous (HbSS sickle-cell anemia (SCA, but are not clear in adult patients with SCA. Aim: To assess the metabolic and endocrine abnormalities in adult patients with SCA and evaluate left ventricular (LV systolic and diastolic functions compared with patients with no SCA and further study the relationship between serum levels of cortisol, free thyroxine (T4, and testosterone with serum ferritin. Materials and methods: The study was conducted on 82 patients with adult HbSS SCA compared with a sex- and age-matched control group. The serum levels of cortisol, parathyroid hormone (PTH, testosterone, thyroid-stimulating hormone (TSH, and free T4 were compared. Blood levels of hemoglobin, reticulocyte count, lactate dehydrogenase (LDH, calcium, alkaline phosphatase (ALP, vitamin D3, and ferritin were also compared. Pulsed Doppler echo was performed to evaluate the LV mass, wall thickness, and cavity dimensions with diastolic filling velocities of early (E and atria (A waves. Biometric data were analyzed as mean ± standard deviation between the two groups. Multiple regression analysis was performed between serum levels of ferritin as independent variable and testosterone, cortisol, and thyroid hormones. Results: A total of 82 adult patients with HbSS SCA were enrolled who had a mean age of 21±5.7 years, with 51 males (62%. Patients with SCA compared with the control group had significantly lower hemoglobin, body mass index, cortisol, vitamin D3, testosterone, and T4. Furthermore, there were significantly high levels of

  16. Increased bone marrow blood flow in sickle cell anemia demonstrated by thallium-201 and Tc-99m human albumin microspheres

    International Nuclear Information System (INIS)

    Thrall, J.H.; Rucknagel, D.L.

    1978-01-01

    Lower extremity vascularity in nine patients with sickle cell anemia was studied by intra-arterial /sup 99m/Tc human albumin microspheres or intravenous thallium-201. In eight patients, the normal pattern of greater muscle than bone activity was reversed with marked tracer localization in skeletal parts usually not visualized. In four cases, there were distinct focal abnormalities in the femurs and tibias which correlated with defects on /sup 99m/Tc sulfur colloid marrow scans. TC-99m pyrophosphate bone scans demonstrated normal uptake in the same areas. The scintigraphic findings indicate a markedly increased relative bone marrow blood flow

  17. Megalophallus as a sequela of priapism in sickle cell anemia: use of blood oxygen level-dependent magnetic resonance imaging.

    Science.gov (United States)

    Kassim, A A; Umans, H; Nagel, R L; Fabry, M E

    2000-09-01

    Priapism is a common complication of sickle cell anemia. We report a little known sequela of priapism: painless megalophallus, with significant penile enlargement. The patient had had an intense episode of priapism 9 years previously and his penis remained enlarged. Blood oxygen level-dependent magnetic resonance imaging revealed enlarged, hypoxic corpora cavernosa. Megalophallus probably resulted from permanent loss of elasticity of the tunica albuginea due to severe engorgement during the episode of priapism. This sequela needs to be recognized by physicians because no intervention is necessary and sexual function seems to remain intact.

  18. Prevalence of Hepatitis B surface antigen in children with sickle cell anemia

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    Baba Jibrin

    2014-01-01

    Full Text Available Background: Hepatitis B virus is known to be endemic in Africa. The seroepidemiological studies of HBV have shown that infection commonly occurs in childhood in Africa resulting in an increased tendency to chronicity. This cross-sectional study was undertaken to determine the seroprevalence of hepatitis B surface antigen among pediatric patients with homozygous hemoglobin S. Materials and Methods: Three hundred sickle cell anemia children aged 6 months-15 years (both in steady state and in crises attending the SCA clinic and on admission in emergency pediatrics unit and pediatrics medical ward, Usmanu Danfodiyo University Teaching Hospital, Sokoto, Nigeria, were screened for hepatitis B infection using HBsAg as marker of infection. The sensitive enzyme linked immunosorbent assay method was used for detection of the marker. Three hundred children with minor illness attending pediatrics outpatient department and on admission in EPU/PMW for various treatment in the same hospital served as gender- and age-marched controls cohorts. Results: The sero-prevalence of HBsAg seropositivity for hepatitis B virus infection among SCA children was 17.3% (52/300 compared to 10.7% (32/300 of the control (P = 0.0875. The peak prevalence age group for HBV infection among SCA children was in the age group 1.1-5.0 years (6% compared to 10.1-15.0 years (4.7% in the control. Risk factors for HBV infection such as blood transfusion, traditional scarification/circumcision/uvulectomy, and tattooing did not significantly affect the prevalence of HBV infection in both SCA children and controls. Conclusion: Hepatitis B infection is common in Sokoto. The need for strict adherence to HBV immunization and further community-based studies on the risk factors are recommended.

  19. Massive splenic infarction in Saudi patients with sickle cell anemia: a unique manifestation.

    Science.gov (United States)

    Jama, Ali Hassan Al; Salem, Ahmed Hassan Al; Dabbous, Ibrahim Abdalla Al

    2002-03-01

    Splenic infarcts are common in patients with sickle cell anemia (SCA), but these are usually small and repetitive, leading ultimately to autosplenectomy. Massive splenic infarcts on the other hand are extremely rare. This is a report of our experience with 8 (4 males and 4 females) cases of massive splenic infarction in patients with SCA. Their ages ranged from 16 to 36 years (mean 22 years). Three presented with left upper quadrant abdominal pain and massive splenic infarction on admission, while the other 5 developed massive splenic infarction while in hospital. In 5 the precipitating factors were high altitude, postoperative, postpartum, salmonella septicemia, and strenuous exercise in one each, while the remaining 3 had severe generalized vasoocclusive crises. Although both ultrasound and CT scan of the abdomen were of diagnostic value, we found CT scan more accurate in delineating the size of infarction. All our patients were managed conservatively with I.V. fluids, analgesia, and blood transfusion when necessary. Diagnostic aspiration under ultrasound guidance was necessary in two patients to differentiate between massive splenic infarction and splenic abscess. Two patients required splenectomy during the same admission because of suspicion of secondary infection and abscess formation, while a third patient had splenectomy 2 months after the attack because of persistent left upper quadrant abdominal pain. In all the 3 histology of the spleen showed congestive splenomegaly with massive infarction. All of our patients survived. Two patients subsequently developed autosplenectomy while the remaining 3 continue to have persistent but asymptomatic splenomegaly. Massive splenic infarction is a rare and unique complication of SCA in the Eastern Province of Saudi Arabia, and for early diagnosis and treatment, physicians caring for these patients should be aware of such a complication.

  20. Cardiac iron overload in chronically transfused patients with thalassemia, sickle cell anemia, or myelodysplastic syndrome.

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    Mariane de Montalembert

    Full Text Available The risk and clinical significance of cardiac iron overload due to chronic transfusion varies with the underlying disease. Cardiac iron overload shortens the life expectancy of patients with thalassemia, whereas its effect is unclear in those with myelodysplastic syndromes (MDS. In patients with sickle cell anemia (SCA, iron does not seem to deposit quickly in the heart. Our primary objective was to assess through a multicentric study the prevalence of cardiac iron overload, defined as a cardiovascular magnetic resonance T2*8 ECs in the past year, and age older than 6 years. We included from 9 centers 20 patients with thalassemia, 41 with SCA, and 25 with MDS in 2012-2014. Erythrocytapharesis did not consistently prevent iron overload in patients with SCA. Cardiac iron overload was found in 3 (15% patients with thalassemia, none with SCA, and 4 (16% with MDS. The liver iron content (LIC ranged from 10.4 to 15.2 mg/g dry weight, with no significant differences across groups (P = 0.29. Abnormal T2* was not significantly associated with any of the measures of transfusion or chelation. Ferritin levels showed a strong association with LIC. Non-transferrin-bound iron was high in the thalassemia and MDS groups but low in the SCA group (P<0.001. Hepcidin was low in thalassemia, normal in SCA, and markedly elevated in MDS (P<0.001. Two mechanisms may explain that iron deposition largely spares the heart in SCA: the high level of erythropoiesis recycles the iron and the chronic inflammation retains iron within the macrophages. Thalassemia, in contrast, is characterized by inefficient erythropoiesis, unable to handle free iron. Iron accumulation varies widely in MDS syndromes due to the competing influences of abnormal erythropoiesis, excess iron supply, and inflammation.

  1. "Sickle cell anemia: tracking down a mutation": an interactive learning laboratory that communicates basic principles of genetics and cellular biology.

    Science.gov (United States)

    Jarrett, Kevin; Williams, Mary; Horn, Spencer; Radford, David; Wyss, J Michael

    2016-03-01

    "Sickle cell anemia: tracking down a mutation" is a full-day, inquiry-based, biology experience for high school students enrolled in genetics or advanced biology courses. In the experience, students use restriction endonuclease digestion, cellulose acetate gel electrophoresis, and microscopy to discover which of three putative patients have the sickle cell genotype/phenotype using DNA and blood samples from wild-type and transgenic mice that carry a sickle cell mutation. The inquiry-based, problem-solving approach facilitates the students' understanding of the basic concepts of genetics and cellular and molecular biology and provides experience with contemporary tools of biotechnology. It also leads to students' appreciation of the causes and consequences of this genetic disease, which is relatively common in individuals of African descent, and increases their understanding of the first principles of genetics. This protocol provides optimal learning when led by well-trained facilitators (including the classroom teacher) and carried out in small groups (6:1 student-to-teacher ratio). This high-quality experience can be offered to a large number of students at a relatively low cost, and it is especially effective in collaboration with a local science museum and/or university. Over the past 15 yr, >12,000 students have completed this inquiry-based learning experience and demonstrated a consistent, substantial increase in their understanding of the disease and genetics in general. Copyright © 2016 The American Physiological Society.

  2. Biliary scintigraphy in children with sickle cell anemia and acute abdominal pain

    Energy Technology Data Exchange (ETDEWEB)

    D' Alonzo, W.A. Jr.; Heyman, S.

    1985-09-01

    The patterns of radionuclide hepatobiliary scans in nine children with sickle cell disease and acute right upper quadrant abdominal pain were reviewed. The most common pattern observed was delayed gall bladder visualization, consistent with chronic cholecystitis. The value of hepatobiliary imaging in distinguishing acute cholecystitis from crisis is presented.

  3. Biliary scintigraphy in children with sickle cell anemia and acute abdominal pain

    International Nuclear Information System (INIS)

    D'Alonzo, W.A. Jr.; Heyman, S.

    1985-01-01

    The patterns of radionuclide hepatobiliary scans in nine children with sickle cell disease and acute right upper quadrant abdominal pain were reviewed. The most common pattern observed was delayed gall bladder visualization, consistent with chronic cholecystitis. The value of hepatobiliary imaging in distinguishing acute cholecystitis from crisis is presented. (orig.)

  4. Neurocognitive Deficits in Children With Sickle Cell Disease Are Associated With the Severity of Anemia

    NARCIS (Netherlands)

    Hijmans, Channa T.; Grootenhuis, Martha A.; Oosterlaan, Jaap; Heijboer, Harriët; Peters, Marjolein; Fijnvandraat, Karin

    2011-01-01

    Background. Although neurocognitive deficits in children with sickle cell disease (SCD) have been well documented, the etiology of these deficits has not been completely clarified. The aim of this study was to investigate the association of laboratory markers of disease severity and radiological

  5. Exercise tolerance, lung function abnormalities, anemia, and cardiothoracic ratio in sickle cell patients

    NARCIS (Netherlands)

    van Beers, Eduard J.; van der Plas, Mart N.; Nur, Erfan; Bogaard, Harm-Jan; van Steenwijk, Reindert P.; Biemond, Bart J.; Bresser, Paul

    2014-01-01

    Many patients with sickle cell disease (SCD) have a reduced exercise capacity and abnormal lung function. Cardiopulmonary exercise testing (CPET) can identify causes of exercise limitation. Forty-four consecutive SCD patients (27 HbSS, 11 HbSC, and 6 HbS-beta thalassemia) with a median age

  6. Laboratory: Undergraduate Laboratory Experiment Teaching Fundamental Concepts of Rheology in Context of Sickle Cell Anemia

    Science.gov (United States)

    Vernengo, Jennifer; Purdy, Caitlin; Farrell, Stephanie

    2014-01-01

    This paper describes a biomedical engineering experiment that introduces students to rheology. Healthy and sickle-cell blood analogs are prepared that are composed of chitosan particles suspended in aqueous glycerol solutions, which substitute for RBCs and plasma, respectively. Students study flow properties of the blood analogs with a viscometer…

  7. A GCH1 haplotype confers sex-specific susceptibility to pain crises and altered endothelial function in adults with sickle cell anemia

    Science.gov (United States)

    Belfer, Inna; Youngblood, Victoria; Darbari, Deepika S.; Wang, Zhengyuan; Diaw, Lena; Freeman, Lita; Desai, Krupa; Dizon, Michael; Allen, Darlene; Cunnington, Colin; Channon, Keith M.; Milton, Jacqueline; Hartley, Stephen W.; Nolan, Vikki; Kato, Gregory J.; Steinberg, Martin H.; Goldman, David; Taylor, James G.

    2014-01-01

    GTP cyclohydrolase (GCH1) is rate limiting for tetrahydrobiopterin (BH4) synthesis, where BH4 is a cofactor for nitric oxide (NO) synthases and aromatic hydroxylases. GCH1 polymorphisms are implicated in the pathophysiology of pain, but have not been investigated in African populations. We examined GCH1 and pain in sickle cell anemia where GCH1 rs8007267 was a risk factor for pain crises in discovery (n = 228; odds ratio [OR] 2.26; P = 0.009) and replication (n = 513; OR 2.23; P = 0.004) cohorts. In vitro, cells from sickle cell anemia subjects homozygous for the risk allele produced higher BH4. In vivo physiological studies of traits likely to be modulated by GCH1 showed rs8007267 is associated with altered endothelial dependent blood flow in females with SCA (8.42% of variation; P = 0.002). The GCH1 pain association is attributable to an African haplotype with where its sickle cell anemia pain association is limited to females (OR 2.69; 95% CI 1.21–5.94; P = 0.01) and has the opposite directional association described in Europeans independent of global admixture. The presence of a GCH1 haplotype with high BH4 in populations of African ancestry could explain the association of rs8007267 with sickle cell anemia pain crises. The vascular effects of GCH1 and BH4 may also have broader implications for cardiovascular disease in populations of African ancestry. PMID:24136375

  8. Validity of simple clinical and biological parameters as screening tool for sickle cell anemia for referral to tertiary center in highly resource constraints.

    Science.gov (United States)

    Kadima, Bertin Tshimanga; Gini-Ehungu, Jean Lambert; Mbutiwi, Fiston Ikwa Ndol; Bahati, John Tunda; Aloni, Michel Ntetani

    2017-11-01

    In the Democratic Republic of Congo, the incidence of sickle cell anemia (SCA) is estimated around 40 000 neonates per year. However, it is notoriously difficult to perform conventional electrophoresis in all hospitals and laboratories, especially at peripheral levels and rural area. A panel of multiple clinical and laboratory features that would enhance sickle cell disease were assessed for the detection of the disease in highly resource-scarce settings. A prospective study was conducted in Kinshasa. Venous blood samples were drawn from each study participant in order to determine the hematologic parameters, the peripheral smears, and the hemoglobin electrophoresis. We used Cohen's κ statistic to examine the agreement of each variable and diagnosis of sickle cell disease. A total of 807 patients were screened for sickle cell disease. Among these 807 children, 36 (4.5%) were homozygous for Hb S disease. The presence of at least 8% erythroblasts (PPV: 91%, NPV: 99%, sensitivity: 83.3%, specificity: 99.6%, κ value: .86) and sickle cells (PPV:100%, NPV: 98%, sensitivity: 50%, specificity: 100%, κ value: .66) in the peripheral blood smear had an acceptable agreement for sickle cell disease. These two biological markers may guide the clinician in the decision-making to initiate the management of the children as a sickle cell patient, pending confirmation of the disease by electrophoresis techniques. © 2017 Wiley Periodicals, Inc.

  9. Serotype-specific immunoglobulin G antibody responses to pneumococcal polysaccharide vaccine in children with sickle cell anemia : Effects of continued penicillin prophylaxis

    NARCIS (Netherlands)

    Bjornson, AB; Falletta, JM; Verter, JI; Buchanan, GR; Miller, ST; Pegelow, CH; Iyer, RV; Johnstone, HS; DeBaun, MR; Wethers, DL; Woods, GM; Holbrook, CT; Becton, DL; Kinney, TR; Reaman, GH; Kalinyak, K; Grossman, NJ; Vichinsky, E; Reid, CD

    1996-01-01

    Objectives: (1) To determine serotype-specific IgG antibody responses to reimmunization with pneumococcal polysaccharide vaccine at age 5 years ski children with sickle cell anemia and (2) to determine whether continued penicillin prophylaxis had any adverse effects on these responses. Study design:

  10. Massive splenic infarction in children with sickle cell anemia and the role of splenectomy.

    Science.gov (United States)

    Al-Salem, Ahmed H

    2013-03-01

    Massive splenic infarction (MSI) is a very rare condition. Few reports of splenic infarction of various etiologies including hematological and non-hematological causes have been published. On the other hand, MSI in patients with sickle cell anemia (SCA) is extremely rare. This report describes our experience with 15 children with SCA and MSI outlining aspects of presentation, diagnosis and management. The records of all children with MSI were retrospectively reviewed for age at diagnosis, sex, clinical features, precipitating factors, investigations, management and outcome. 15 children (11 M: 4 F) with SCA were treated for MSI. Their mean age was 10.9 years (6-17 years). All presented with severe left upper quadrant abdominal pain. In nine, this was associated with nausea and vomiting. Three were febrile and all had a tender splenomegaly. Their mean hemoglobin was 8.2 g/dl (5.7-11.3 g/dl), mean WBC was 10.97 × 10(3) mm(-3) (3.6 × 10(3)-22.3 × 10(3) mm(-3)) and mean platelet count was 263.3 × 10(3) mm(-3) (40 × 10(3)-660 × 10(3) mm(-3)). In seven, there was a precipitating cause including high altitude in two, acute chest syndrome in two, septicemia in two and severe vasooclusive crisis in one. Abdominal ultrasound and CT scan confirmed the diagnosis of MSI which involved more than half of the spleen in 12 and whole spleen in 3. All were treated with IV fluids, analgesia and blood transfusion where appropriate. Eleven had splenectomy because of persistent abdominal pain, three developed splenic abscess and underwent splenectomy and one settled on conservative treatment. Histology confirmed the diagnosis of splenic infarction in 11 and infarction with abscess in the remaining 3. MSI is extremely rare in children with SCA. It can develop spontaneously or precipitated by other factors namely high altitude, acute chest syndrome and severe stress. Most reported cases of splenic infarction are small in size, focal and can be treated conservatively. MSI, on the other

  11. Avascular necrosis in sickle cell (homozygous S) patients: Predictive ...

    African Journals Online (AJOL)

    2013-04-24

    Apr 24, 2013 ... Results: The prevalence of AVN in sickle cell patients was ... Key words: Avascular necrosis, homozygous S, platelet count, sickle cell anemia, white cell count .... frequency of vaso‑occlusive crisis, platelet, and white cell.

  12. Trichobezoar in a patient with sickle cell anemia: A pain crisis is not always to blame

    OpenAIRE

    El-Mekkawy, M.S.; Hosam, A.H.; Rabah, A.; Mosaad, M.

    2014-01-01

    Trichobezoar, a ball of hair in the stomach, is an under-diagnosed problem that should be considered in patients with an upper abdominal pain and mass, weight loss, and bowel obstruction especially in young girls with underlying psychiatric disorder or mental retardation. Patients with sickle cell disease are susceptible to experiencing pica including, in rare occasions, trichophagia that could lead to formation of a trichobezoar, resulting in serious abdominal complications which are likely ...

  13. Abnormal pulmonary function and associated risk factors in children and adolescents with sickle cell anemia

    OpenAIRE

    Arteta, Manuel; Campbell, Andrew; Nouraie, Mehdi; Rana, Sohail; Onyekwere, Onyinye; Ensing, Gregory; Sable, Craig; Dham, Niti; Darbari, Deepika; Luchtman-Jones, Lori; Kato, Gregory J.; Gladwin, Mark T.; Castro, Oswaldo L.; Minniti, Caterina P.; Gordeuk, Victor R.

    2014-01-01

    Obstructive and restrictive pulmonary changes develop in children with sickle cell disease, but reports conflict as to the type of change that predominates. We prospectively performed spirometry, plethysmography and lung diffusing capacity in 146 children aged 7–20 years with hemoglobin SS or Sβ0-thalassemia. Nineteen percent of the patients had obstructive physiology as defined according to guidelines of the American Thoracic Society. In addition, 9% had restrictive physiology and 11% had ab...

  14. A importância do aconselhamento genético na anemia falciforme The importance of genetic counseling at sickle cell anemia

    Directory of Open Access Journals (Sweden)

    Cínthia Tavares Leal Guimarães

    2010-06-01

    Full Text Available O aconselhamento genético tem a finalidade de nortear as pessoas sobre a tomada de decisões a respeito da procriação, ajudando-as a entender como a hereditariedade pode colaborar para a ocorrência ou risco de recorrência de doenças genéticas, como é o caso da anemia falciforme. Esta anemia é a doença hereditária de maior prevalência no Brasil, com complicações clínicas que podem prejudicar o desenvolvimento, a qualidade de vida e levar à morte. O presente artigo tem o intuito de elucidar a importância do aconselhamento genético para os portadores de anemia ou traço falciforme, visando salientar as principais características dessa doença, suas complicações e como é feito o diagnóstico e a captação desses doentes. O estudo realizado foi embasado no método bibliográfico, buscando estudos que dissertam sobre esse tipo de anemia e aconselhamento genético, correlacionando-os com as diretrizes e dados do Ministério da Saúde. A partir dos dados encontrados, infere-se a importância do aconselhamento genético para os indivíduos que apresentam a forma heterozigota da anemia falciforme - o traço falcêmico - e destaca-se a necessidade de implantação de programas de diagnóstico precoce e de orientação tanto genética quanto social e psicológica para as pessoas que possuem a doença ou o traço falciforme.The genetic counseling has the purpose of guiding people through a conscientious and balanced decision making process regarding procreation, helping them to understand how the hereditary succession can contribute for the occurrence or risk of recurrence of genetic illnesses, as it is the case of the sickle cell anemia. This type of anemia is the most prevalence hereditary illness in Brazil and has clinical complications that can harm the development, the quality of life and lead to death. The present article has the objective to clarify the importance of the genetic counseling for the anemia carriers or falciform

  15. Development of nanobiomarkers for use in sickle cell anemia; Desenvolvimento de nanomarcadores para serem utilizados na marcacao de hemoglobinas S (anemia falciforme)

    Energy Technology Data Exchange (ETDEWEB)

    Santos, Elen Goncalves dos

    2009-07-01

    Luminescent materials, such as the rare earth's complex, can be used as markers in cytology and immunology, being also used as luminescent bio markers, once the development of these nano materials create new possibilities to many fields, particularly in diagnostic medicine. Besides, it establishes one kind of fluorescent probes, for which there are no equivalent organic molecules. Due to its potential in market's application, the objective of this work was to develop luminescent materials, allowing the use of these super molecules of lanthanides as markers for the detection of Sickle Cell Disease (HbS). Six luminescent markers were developed and marked on rare's earth base. The main methodology used for the detection of HbS was fluoroimmunoassay, which is already used in investigation of enzymes, antibodies, cells, hormones, and so on. During this work, absorption's spectrum in the infrared by Fourier's Transform (FTIR) was also used to detect the HbS. The studied methods were applied for the diagnosis of this disease, which has genetic origin, very typical of the hemoglobin-pathology group and considered to be a public health problem in Brazil (ANVISA). When early diagnosed, Sickle Cell Disease (SCD) has a significant decrease in morbidity and mortality. Comparing the obtained results to the already known methodologies, it was possible to conclude that they are viable methods to detect HbS. Besides, when totally developed, these methods will contribute to the production of Sickle Cell Anemia's diagnostic, and they will have impact in Sao Paulo state's public measures, as well as in Brazil's ones. (author)

  16. Serum Copper Level Significantly Influences Platelet Count, Lymphocyte Count and Mean Cell Hemoglobin in Sickle Cell Anemia

    Directory of Open Access Journals (Sweden)

    Okocha Chide

    2015-12-01

    Full Text Available Background Changes in serum micro nutrients levels affect a number of critically important metabolic processes; these could potentially influence blood counts and ultimately disease presentation in patients with sickle cell anemia (SCA. Objectives To evaluate the influence of serum micro-nutrients levels; zinc, copper, selenium and magnesium on blood counts in steady state SCA patients. Methods A cross sectional study that involved 28 steady state adult SCA subjects. Seven milliliters (mls of blood was collected; 3 mls was for hemoglobin electrophoresis and full blood count determination while 4 mls was for measurement of serum micro nutrients levels, by the atomic absorption spectrophotometry. Correlation between serum micro-nutrient levels and blood counts was done by the Pearson’s linear regression. Ethical approval was obtained from the institutional review board and each participant gave informed consent. All data was analyzed by SPSS software version 20. Results There was a significant correlation between serum copper levels and mean cell hemoglobin (MCH, platelet and lymphocyte counts (r = 0.418; P = 0.02, r = -0.376; P = 0.04 and r = -0.383; P = 0.04, respectively. There were no significant correlations between serum levels of other micro nutrients (selenium, zinc and magnesium and blood counts. Conclusions Copper influences blood count in SCA patients probably by inducing red cell haemolysis, oxidant tissue damage and stimulating the immune system.

  17. Long-term follow-up of kidney allografts in patients with sickle cell hemoglobinopathy Transplante renal na anemia falciforme

    Directory of Open Access Journals (Sweden)

    João R. Friedrisch

    2003-06-01

    Full Text Available Although sickle cell anemia and sickle cell disease produce a variety of functional renal abnormalities they uncommonly cause end stage renal failure. Renal transplantation has been a successful alternative for the treatment of the rare terminal chronic renal failure with outcomes comparable with non-sickle recipients. This approach, however, has not been often described on patients with renal failure associated with SC hemoglobinopathy. Here we report the outcomes of two patients with chronic renal failure due to SC hemoglobinopathies who underwent renal transplantation. At the time of the transplantation they were both severely anemic and had frequent vasoocclosive pain crises. Both patients evolved with good allograft function, near normal hematological parameters, and very rare pain crisis, thirteen and eight years after transplant. These cases illustrate that terminal renal failure due to SC hemoglobinopathy can be successfully managed by renal transplantation and satisfactory long-term results are achievable not only in terms of renal allograft function but also of their hematological condition.Embora a anemia falciforme e as síndromes falciformes freqüentemente causem várias alterações funcionais renais, não é comum a insuficiência renal terminal. Nestes casos, o transplante renal é uma alternativa que se acompanha de resultados comparáveis aos obtidos em receptores sem hemoglobinopatias. Esta estratégia terapêutica tem sido, no entanto, pouco relatada para portadores de hemoglobinopatia SC. Este relato descreve a evolução de dois pacientes portadores de hemoglobinopatia SC que foram submetidos ao transplante renal. No momento do transplante ambos apresentavam severa anemia e crises dolorosas freqüentes. Os pacientes evoluíram com boa função do enxerto, parâmetros hematológicos quase normais e praticamente assintomáticos do ponto de vista da hemoglobinopatia, treze e oito anos após o transplante. Estes casos ilustram

  18. Clinical and Hematological Evaluation of Patients with Sickle Cell Anemia Before and After Four Years of Using Hydroxyurea

    Directory of Open Access Journals (Sweden)

    Ieda Maria Gonçalves Pacce Bispo

    2017-06-01

    Full Text Available Objective: Evaluating clinical and hematological-clinical parameters of patients with sickle cell anemia (SCA before and after four years of using hydroxyurea (HU.  Method: A retrospective cohort study implementing a quantitative, descriptive and analytical approach developed in two public teaching hospitals located in the Central-West region of Brazil, from November 2010 to October 2011. Data collection was performed through medical records of 32 patients with SCA to assess clinical and hematological parameters before and after HU treatment. The study was approved by the UFMS Ethics Committee under protocol number 1890/2010. Results: All of the 32 patients were homozygous with a mean age in the prescription of hydroxyurea of 19.72±7.58 years, an initial dose of 15.59±4.27 mg/kg/day, and 22.48±5.35 mg/kg/day in the fourth year of treatment. Regarding the use of HU, average values of some hematological parameters presented a significant difference in the fourth year compared to the mean values prior to HU use, such as fetal hemoglobin (14.49±7.52%, red blood cells (2.54±0.38x1012/L, hematocrit (25.30±4.03% and hemoglobin (9.22±3.34g/dL.  Conclusion: Treatment with hydroxyurea showed a significant increase in fetal hemoglobin levels, increased hemoglobin, hematocrit and average corpuscular hemoglobin concentration, with reduced episodes of pain, infection and acute chest syndrome in such a way as to reaffirm its efficiency in treating these patients. Keywords: Hemoglobin; Sickle Cell Anemia; Hydroxyurea.

  19. Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia.

    Science.gov (United States)

    Sheehan, Vivien A; Crosby, Jacy R; Sabo, Aniko; Mortier, Nicole A; Howard, Thad A; Muzny, Donna M; Dugan-Perez, Shannon; Aygun, Banu; Nottage, Kerri A; Boerwinkle, Eric; Gibbs, Richard A; Ware, Russell E; Flanagan, Jonathan M

    2014-01-01

    Hydroxyurea has proven efficacy in children and adults with sickle cell anemia (SCA), but with considerable inter-individual variability in the amount of fetal hemoglobin (HbF) produced. Sibling and twin studies indicate that some of that drug response variation is heritable. To test the hypothesis that genetic modifiers influence pharmacological induction of HbF, we investigated phenotype-genotype associations using whole exome sequencing of children with SCA treated prospectively with hydroxyurea to maximum tolerated dose (MTD). We analyzed 171 unrelated patients enrolled in two prospective clinical trials, all treated with dose escalation to MTD. We examined two MTD drug response phenotypes: HbF (final %HbF minus baseline %HbF), and final %HbF. Analyzing individual genetic variants, we identified multiple low frequency and common variants associated with HbF induction by hydroxyurea. A validation cohort of 130 pediatric sickle cell patients treated to MTD with hydroxyurea was genotyped for 13 non-synonymous variants with the strongest association with HbF response to hydroxyurea in the discovery cohort. A coding variant in Spalt-like transcription factor, or SALL2, was associated with higher final HbF in this second independent replication sample and SALL2 represents an outstanding novel candidate gene for further investigation. These findings may help focus future functional studies and provide new insights into the pharmacological HbF upregulation by hydroxyurea in patients with SCA.

  20. Transcranial Doppler ultrasonography in children with sickle cell anemia: Clinical and laboratory correlates for elevated blood flow velocities.

    Science.gov (United States)

    Lagunju, IkeOluwa; Sodeinde, Olugbemiro; Brown, Biobele; Akinbami, Felix; Adedokun, Babatunde

    2014-02-01

    Transcranial Doppler (TCD) sonography of major cerebral arteries is now recommended for routine screening for stroke risk in children with sickle cell disease (SCD). We performed TCD studies on children with sickle cell anemia (SCA) seen at the pediatric hematology clinic over a period of 2 years. TCD scans were repeated yearly in children with normal flow velocities and every 3 months in children with elevated velocities. Findings were correlated with clinical variables, hematologic indices, and arterial oxygen saturation. Predictors of elevated velocities were identified by multiple linear regressions. We enrolled 237 children and performed a total of 526 TCD examinations. Highest time-averaged maximum flow velocities were ≥170 cm/s in 72 (30.3%) cases and ≥200 cm/s in 20 (8.4%). Young age, low hematocrit, low hemoglobin, and arterial oxygen desaturation <95% showed significant correlations with presence of increased cerebral flow velocities. Low hematocrit, low hemoglobin concentration, young age, and low arterial oxygen desaturation predicted elevated cerebral blood flow velocities and, invariably, increased stroke risk, in children with SCA. Children who exhibit these features should be given high priority for TCD examination in the setting of limited resources. Copyright © 2013 Wiley Periodicals, Inc.

  1. Pulsed-dosing with oral sodium phenylbutyrate increases hemoglobin F in a patient with sickle cell anemia.

    Science.gov (United States)

    Hines, Patrick; Dover, George J; Resar, Linda M S

    2008-02-01

    Increasing hemoglobin F (HbF) appears to be beneficial for patients with sickle cell anemia. We previously demonstrated that daily, oral sodium phenylbutyrate (OSPB) induces HbF synthesis in pediatric and adult patients with hemoglobin SS (HbSS). The high doses and need for daily therapy, however, have limited its use. Here, we report a patient treated with pulsed-dosing of OSPB for over 3 years. This patient developed a modest, but sustained elevation in HbF over the course of therapy without side effects. Although larger studies are needed, this case demonstrates that pulsed-dosing with OSPB enhances HbF synthesis. (c) 2007 Wiley-Liss, Inc.

  2. Secondary benefit of maintaining normal transcranial Doppler velocities when using hydroxyurea for prevention of severe sickle cell anemia.

    Science.gov (United States)

    Ghafuri, Djamila Labib; Chaturvedi, Shruti; Rodeghier, Mark; Stimpson, Sarah-Jo; McClain, Brandi; Byrd, Jeannie; DeBaun, Michael R

    2017-07-01

    In a retrospective cohort study, we tested the hypothesis that when prescribing hydroxyurea (HU) to children with sickle cell anemia (SCA) to prevent vaso-occlusive events, there will be a secondary benefit of maintaining low transcranial Doppler (TCD) velocity, measured by imaging technique (TCDi). HU was prescribed for 90.9% (110 of 120) of children with SCA ≥5 years of age and followed for a median of 4.4 years, with 70% (n = 77) receiving at least one TCDi evaluation after starting HU. No child prescribed HU had a conditional or abnormal TCDi measurement. HU initiation for disease severity prevention decreases the prevalence of abnormal TCDi velocities. © 2016 Wiley Periodicals, Inc.

  3. The Use of Dried Blood Spots: A Potential Tool for the Introduction of a Neonatal Screening Program for Sickle Cell Anemia in Zambia.

    Science.gov (United States)

    Chindima, Nanjela; Nkhoma, Panji; Sinkala, Musalula; Zulu, Mildred; Kafita, Doris; Simakando, Marah; Mwaba, Florence; Mantina, Hamakwa; Mutale, Mubanga

    2018-01-01

    Sickle cell disease is a group of hemoglobin (Hb) disorders resulting from the inheritance of the sickle β-globin gene. It is the most common pathological Hb mutation worldwide with 75% being born in Sub-Saharan Africa. This study aims to determine if dried blood spots (DBSs) can be used for diagnosis of sickle cell in newborns. In Zambia, there is no neonatal screening program for sickle cell anemia (SCA), yet it has been proved that early diagnosis by newborn screening (NBS) using DBSs and access to comprehensive care results in survival to adulthood of over 96% of sickle cell patients. A cross-sectional study was carried out at the University Teaching Hospital to determine whether DBSs can be used to diagnose sickle cell using Hb electrophoresis. Results from DBSs stored for 2 weeks were then compared to those obtained using freshly collected whole blood. To evaluate performance characteristics, the following values were used: true positive, false positive, true negative, and false negative. Ninety-seven participants were included in this study. DBSs had a sensitivity of 100%, a specificity of 94.7%, positive predictive value of 96.7%, negative predictive value of 100%, overall efficiency of 97.9%, and a Kappa r 2 , P < 0.0001 in comparison to fresh whole blood which we used as the gold standard. The use of DBSs can be recommended for NBS of SCA in Zambia due to its high sensitivity, specificity, and stability of hemoglobin.

  4. Sonographic Screening for Abdominal Organ Involvement in Sickle Cell AnemiaA Step towards Better Patient Care

    Directory of Open Access Journals (Sweden)

    Bhushita B. Lakhkar

    2017-04-01

    Full Text Available Background: Sickle cell disease is characterized by repeated crisis and need for frequent transfusions. Abdominal crisis are common and potentially can damage any abdominal organ. Screening for organ involvement will lead to early detection and better patient care. Aim and Objectives: To see whether ultrasound can be a better noninvasive technique for early detection of organ involvement. Material and Methods: Prospective cross sectional observational study done on patients admitted in pediatric ward of a medical college. Total of 150 patients, already diagnosed to have sickle cell anemia (homozygous 110 and heterozygous 40 was included in the study. All the patients were in steady state. Demographic, clinical biochemical details were noted and were subjected to ultrasonography. Renal artery, Being end artery, Doppler study was also done. All the modalities were compared for early detection. Results: Majority of patients (77% were between 1 to 30 years with male female ratio of 2:1. Recurrent fever (64% and recurrent abdominal pain (47% were most common symptoms and anemia (66%, hepatomegaly (62%, splenomegaly (21% were most common signs. When clinical examination, biochemical tests and ultrasonography were compared for organ detection, ultrasound significantly detected more patients (p=<0.05. Ultrasonography of kidney included renal doppler also. Renal involvement by microalbuminuria measurement was of same as ultrasonography. Organ involvement increased with age. Conclusion: Ultrasonography was good noninvasive technique for organ detection but kidneysyield was better with Doppler study. Most common organ found to be affected was liver. Involvement increased with age. Early detection helps clinicians to avoid drugs toxic to involved organs.

  5. Determination of Cu/Zn and Fe in human serum of patients with sickle cell anemia using radiation synchrotron

    Energy Technology Data Exchange (ETDEWEB)

    Canellas, C.G.L. [Nuclear Instrumentation Laboratory, COPPE/UFRJ, P.O. Box 68509, 21.941-972 Rio de Janeiro (Brazil); Carvalho, S.M.F. [State Institute of Hematology Arthur de Siqueira Cavalcanti, 20.211-030 Rio de Janeiro (Brazil); Anjos, M.J. [Nuclear Instrumentation Laboratory, COPPE/UFRJ, P.O. Box 68509, 21.941-972 Rio de Janeiro (Brazil); Physics Institute, State University of Rio de Janeiro, 20.559-900 Rio de Janeiro (Brazil); Lopes, R.T., E-mail: ricardo@lin.ufrj.br [Nuclear Instrumentation Laboratory, COPPE/UFRJ, P.O. Box 68509, 21.941-972 Rio de Janeiro (Brazil)

    2012-07-15

    In this work we analyzed serum samples from patients with Sickle Cell Anemia (SCA) using Total Reflection X-Ray Fluorescence using Synchrotron Radiation (SRTXRF). The SRTXRF measurements were performed at the X-Ray Fluorescence Beamline at the Brazilian National Synchrotron Light Laboratory (LNLS). We studied forty-three patients aged 18-50 suffering from SCA and sixty healthy volunteers aged 18-60. It was possible to determine the concentrations of the following elements: P, S, Cl, K, Ca, Fe, Cu, Zn, Br and Rb. Moreover, there are evidences of an association among Fe, Cu, Zn and Cu/Zn in the SCA pathogenesis process. The concentrations of Fe and Cu in the serum samples of patients with SCA were larger, 120% and 20%, respectively, when compared with the CG. The serum level Cu/Zn ratio was significantly higher (60%) in the serum samples from patients suffering from SCA than from the CG. Therefore, the Cu/Zn ratio can be used as an adjuvant index in enhancement for diagnosis of SCA. - Highlights: Black-Right-Pointing-Pointer Serum samples from patients with Sickle Cell Anemia (SCA) were analyzed by SRTXRF. Black-Right-Pointing-Pointer It was possible to determine the concentrations of the P, S, Cl, K, Ca, Fe, Cu, Zn, Br and Rb. Black-Right-Pointing-Pointer There are evidences of an association among Fe, Cu, Zn and Cu/Zn in the SCA process. Black-Right-Pointing-Pointer The results indicate that the Cu/Zn ratio can be used as an adjuvant index for diagnosis of SCA.

  6. Determination of Cu/Zn and Fe in human serum of patients with sickle cell anemia using radiation synchrotron

    International Nuclear Information System (INIS)

    Canellas, C.G.L.; Carvalho, S.M.F.; Anjos, M.J.; Lopes, R.T.

    2012-01-01

    In this work we analyzed serum samples from patients with Sickle Cell Anemia (SCA) using Total Reflection X-Ray Fluorescence using Synchrotron Radiation (SRTXRF). The SRTXRF measurements were performed at the X-Ray Fluorescence Beamline at the Brazilian National Synchrotron Light Laboratory (LNLS). We studied forty-three patients aged 18–50 suffering from SCA and sixty healthy volunteers aged 18–60. It was possible to determine the concentrations of the following elements: P, S, Cl, K, Ca, Fe, Cu, Zn, Br and Rb. Moreover, there are evidences of an association among Fe, Cu, Zn and Cu/Zn in the SCA pathogenesis process. The concentrations of Fe and Cu in the serum samples of patients with SCA were larger, 120% and 20%, respectively, when compared with the CG. The serum level Cu/Zn ratio was significantly higher (60%) in the serum samples from patients suffering from SCA than from the CG. Therefore, the Cu/Zn ratio can be used as an adjuvant index in enhancement for diagnosis of SCA. - Highlights: ► Serum samples from patients with Sickle Cell Anemia (SCA) were analyzed by SRTXRF. ► It was possible to determine the concentrations of the P, S, Cl, K, Ca, Fe, Cu, Zn, Br and Rb. ► There are evidences of an association among Fe, Cu, Zn and Cu/Zn in the SCA process. ► The results indicate that the Cu/Zn ratio can be used as an adjuvant index for diagnosis of SCA.

  7. Study of alpha hemoglobin stabilizing protein expression in patients with β thalassemia and sickle cell anemia and its impact on clinical severity.

    Science.gov (United States)

    Mahmoud, Hanan Mohamed; Shoeib, Ahmed Al-Saiid Hamed; Abd El Ghany, Shereen Mohamed; Reda, Marwa Mohamed; Ragab, Iman Ahmed

    2015-12-01

    The α hemoglobin stabilizing protein (AHSP) binds α-Hb and prevents its precipitation limiting free α-Hb toxicities. Our aim was to study AHSP expression in β thalassemia syndromes in relation to their clinical severity and to compare it with its level in sickle cell anemia. We compared patients with β-thalassemia (n=37) (β-thalassemia major (BTM) (n=19) and β-thalassemia intermedia (BTI) (n=18)) with 12 patients with sickle cell anemia as regards clinical severity, age at presentation, transfusion dependency, mean pre-transfusion hemoglobin level, use of hydroxyurea and AHSP expression by real time quantitative PCR. Median (and IQR) AHSP expression was significantly higher in patients with sickle cell anemia 2275 (3898) compared to thalassemia 283 (718), P=0.001, with no significant difference between BTM and BTI (P=0.346). It was also significantly higher in non-transfusion dependent patients with β thalassemia (NTDT) compared to transfusion dependent ones (P=0.019), and in patients on hydroxyurea therapy (Psickle cell anemia versus thalassemia, with no significant difference between BTM and BTI. Expression was higher in patients with NTDT and on hydroxyurea therapy. Copyright © 2015 Elsevier Inc. All rights reserved.

  8. Transplante de células-tronco hematopoéticas (TCTH em doenças falciformes Hematopoietic stem cell transplantation in sickle cell anemia

    Directory of Open Access Journals (Sweden)

    Fabiano Pieroni

    2007-09-01

    Full Text Available O único tratamento curativo para pacientes com doença falciforme é o transplante de células tronco hematopoéticas (TCTH. Neste artigo sumarizamos os resultados do TCTH em pacientes falciformes publicados na literatura e a experiência brasileira. As indicações atuais para o TCTH nestes pacientes serão discutidas.The only curative treatment approach for patients with sickle cell anemia is allogeneic stem cell transplantation. In this article we will review the published data about stem cell transplantation in patients with sickle cell disease and the small Brazilian experience in this field. The possible indications for stem cell patients will be discussed.

  9. Impaired pubertal development and testicular hormone function in males with sickle cell anemia.

    Science.gov (United States)

    Martins, Paulo Roberto Juliano; Kerbauy, José; Moraes-Souza, Helio; Pereira, Gilberto de Araújo; Figueiredo, Maria Stella; Verreschi, Ieda Therezinha

    2015-01-01

    Changes in weight/height ratio, delayed sexual maturation, hypogonadism and impaired fertility have been demonstrated in sickle cell disease (SCD). This study aimed to evaluate the clinical and laboratory views of the Leydig cells function after stimulation with hCG in adults with sickle cell disease. We studied 15 patients with SCD (18 to 40 years; median=27 years old), fourteen homozygous S, and one with SC disease. The control group, composed by adult males, was divided into two groups: I - 10 relatives (18-39 years, median=26 years) with the same socioeconomic level of the patients, and II - 9 normal individuals (23-28, median=31 years) randomly chosen. Clinically it was observed a slight degree of malnutrition, important puberty delay, rarefaction of chest, underarm and pubic hair, and important reduction of the testis and penis size, featuring a mild hypogonadism in patients with SCD. The hormonal level assessment of testosterone at baseline and at 24, 48 and 72 h after hCG stimulation showed no significant differences between the groups studied. We can presume that adult men with SCD showed clinical hypoandrogenism with normal testicular hormonal function, a fact inconsistent with the hypothesis of primary hypogonadism. Copyright © 2014 Elsevier Inc. All rights reserved.

  10. Clinical phenotypes and the biological parameters of Congolese patients suffering from sickle cell anemia: A first report from Central Africa.

    Science.gov (United States)

    Mikobi, Tite M; Lukusa Tshilobo, Prosper; Aloni, Michel N; Akilimali, Pierre Z; Mvumbi-Lelo, Georges; Mbuyi-Muamba, Jean Marie

    2017-11-01

    The influence of phenotype on the clinical course and laboratory features of sickle cell anemia (SCA) is rarely described in sub-Saharan Africa. A cross-sectional study was conducted in Kinshasa. A clinical phenotype score was built up. The following definitions were applied: asymptomatic clinical phenotype (ACP; score≤5), moderate clinical phenotype (MCP; score between 6 and 15), and severe clinical phenotype (SCP; score≥16). ANOVA test were used to compare differences among categorical variables. We have studied 140 patients. The mean body mass index (BMI) value of three groups was lower (Sickle cell patients with ACP have a high mean steady-state hemoglobin concentration compared to those with MCP and SCP (Psickle cell anemia clinical and biological variability in our midst. © 2017 Wiley Periodicals, Inc.

  11. Hydroxyurea therapy of a murine model of sickle cell anemia inhibits the progression of pneumococcal disease by down-modulating E-selectin

    Science.gov (United States)

    Lebensburger, Jeffrey D.; Howard, Thad; Hu, Yunming; Pestina, Tamara I.; Gao, Geli; Johnson, Melissa; Zakharenko, Stanislav S.; Ware, Russell E.; Tuomanen, Elaine I.; Persons, Derek A.

    2012-01-01

    Sickle cell anemia is characterized by chronic hemolysis coupled with extensive vascular inflammation. This inflammatory state also mechanistically promotes a high risk of lethal, invasive pneumococcal infection. Current treatments to reduce vaso-occlusive complications include chronic hydroxyurea therapy to induce fetal hemoglobin. Because hydroxyurea also reduces leukocytosis, an understanding of the impact of this treatment on pneumococcal pathogenesis is needed. Using a sickle cell mouse model of pneumococcal pneumonia and sepsis, administration of hydroxyurea was found to significantly improve survival. Hydroxyurea treatment decreased neutrophil extravasation into the infected lung coincident with significantly reduced levels of E-selectin in serum and on pulmonary epithelia. The protective effect of hydroxyurea was abrogated in mice deficient in E-selectin. The decrease in E-selectin levels was also evident in human sickle cell patients receiving hydroxyurea therapy. These data indicate that in addition to induction of fetal hemoglobin, hydroxyurea attenuates leukocyte–endothelial interactions in sickle cell anemia, resulting in protection against lethal pneumococcal sepsis. PMID:22130804

  12. Abnormal pulmonary function and associated risk factors in children and adolescents with sickle cell anemia

    Science.gov (United States)

    Arteta, Manuel; Campbell, Andrew; Nouraie, Mehdi; Rana, Sohail; Onyekwere, Onyinye; Ensing, Gregory; Sable, Craig; Dham, Niti; Darbari, Deepika; Luchtman-Jones, Lori; Kato, Gregory J.; Gladwin, Mark T.; Castro, Oswaldo L.; Minniti, Caterina P.; Gordeuk, Victor R.

    2015-01-01

    Obstructive and restrictive pulmonary changes develop in children with sickle cell disease, but reports conflict as to the type of change that predominates. We prospectively performed spirometry, plethysmography and lung diffusing capacity in 146 children aged 7–20 years with hemoglobin SS or Sβ0-thalassemia. Nineteen percent of the patients had obstructive physiology as defined according to guidelines of the American Thoracic Society. In addition, 9% had restrictive physiology and 11% had abnormal but not categorized physiology. Increasing age, patient- or family-reported history of asthma or wheezing, and higher lactate dehydrogenase concentration were independent predictors of obstruction as reflected in lower FEV1/FVC. In conclusion, abnormal pulmonary function, most often obstructive, is common in children with hemoglobin SS and Sβ0-thalassemia. Full pulmonary function testing should be performed in children with hemoglobin SS or Sβ0 thalassemia, especially with history of asthma or wheezing and accentuated elevations in hemolytic markers. PMID:24309610

  13. [Infectious complications after surgical splenectomy in children with sickle cell anemia disease].

    Science.gov (United States)

    Monaco Junior, Cypriano Petrus; Fonseca, Patricia Belintani Blum; Braga, Josefina Aparecida Pellegrini

    2015-01-01

    To evaluate the frequency of infectious complications in children with sickle cell disease (SCD) after surgical splenectomy for acute splenic sequestration crisis. Retrospective cohort of children with SCD who were born after 2002 and were regularly monitored until July 2013. Patients were divided into two groups: cases (children with SCD who underwent surgical splenectomy after an episode of splenic sequestration) and controls (children with SCD who did not have splenic sequestration and surgical procedures), in order to compare the frequency of invasive infections (sepsis, meningitis, bacteremia with positive blood cultures, acute chest syndrome and/or pneumonia) by data collected from medical records. Data were analyzed by descriptive statistical analysis. 44 patients were included in the case group. The mean age at the time of splenectomy was 2.6 years (1-6.9 years) and the mean postoperative length of follow-up was 6.1 years (3.8-9.9 years). The control group consisted of 69 patients with a mean age at the initial follow-up visit of 5.6 months (1-49 months) and a mean length of follow-up of 7.2 years (4-10.3 years). All children received pneumococcal conjugate vaccine. No significant difference was observed between groups in relation to infections during the follow-up. Surgical splenectomy in children with sickle cell disease that had splenic sequestration did not affect the frequency of infectious complications during 6 years of clinical follow-up. Copyright © 2015 Associação de Pediatria de São Paulo. Publicado por Elsevier Editora Ltda. All rights reserved.

  14. Thrombectomy approach using pediatric Foley catheter in lateral sinus thrombosis developed as a complication of chronic otitis media in a patient with sickle cell anemia

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    Ercan Akbay

    2014-04-01

    Full Text Available Lateral sinus thrombophlebitis (LST is a rarely seen intracranial complication of chronic otitis media. Even single case report may guide in this entity given the lack of larger series. In the present manuscript, we will discuss removal of infected thrombus localized in transverse sinus via Foley catheter in a 46-years old man with sickle cell anemia underwent surgery due to LST.

  15. Severe painful vaso-occlusive crises and mortality in a contemporary adult sickle cell anemia cohort study.

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    Deepika S Darbari

    Full Text Available BACKGROUND: Frequent painful vaso-occlusive crises (VOCs were associated with mortality in the Cooperative Study of Sickle Cell Disease (CSSCD over twenty years ago. Modern therapies for sickle cell anemia (SCA like hydroxyurea are believed to have improved overall patient survival. The current study sought to determine the relevance of the association between more frequent VOCs and death and its relative impact upon overall mortality compared to other known risk factors in a contemporary adult SCA cohort. METHODS: Two hundred sixty four SCA adults were assigned into two groups based on patient reported outcomes for emergency department (ED visits or hospitalizations for painful VOC treatment during the 12 months prior to evaluation. RESULTS: Higher baseline hematocrit (p = 0.0008, ferritin (p = 0.005, and HDL cholesterol (p = 0.01 were independently associated with 1 or more painful VOCs requiring an ED visit or hospitalization for acute pain. During a median follow-up of 5 years, mortality was higher in the ED visit/hospitalization group (relative risk [RR] 2.68, 95% CI 1.1-6.5, p = 0.03. Higher tricuspid regurgitatant jet velocity (TRV (RR 2.41, 95% CI 1.5-3.9, p < 0.0001, elevated ferritin (RR 4.00, 95% CI 1.8-9.0, p = 0.001 and lower glomerular filtration rate (RR=2.73, 95% CI 1.6-4.6, p < 0.0001 were also independent risk factors for mortality. CONCLUSIONS: Severe painful VOCs remain a marker for SCA disease severity and premature mortality in a modern cohort along with other known risk factors for death including high TRV, high ferritin and lower renal function. The number of patient reported pain crises requiring healthcare utilization is an easily obtained outcome that could help to identify high risk patients for disease modifying therapies. TRIAL REGISTRATION: ClinicalTrials.gov NCT00011648 http://clinicaltrials.gov/

  16. Hydroxyurea-Increased Fetal Hemoglobin Is Associated with Less Organ Damage and Longer Survival in Adults with Sickle Cell Anemia.

    Science.gov (United States)

    Fitzhugh, Courtney D; Hsieh, Matthew M; Allen, Darlene; Coles, Wynona A; Seamon, Cassie; Ring, Michael; Zhao, Xiongce; Minniti, Caterina P; Rodgers, Griffin P; Schechter, Alan N; Tisdale, John F; Taylor, James G

    2015-01-01

    Adults with sickle cell anemia (HbSS) are inconsistently treated with hydroxyurea. We retrospectively evaluated the effects of elevating fetal hemoglobin with hydroxyurea on organ damage and survival in patients enrolled in our screening study between 2001 and 2010. An electronic medical record facilitated development of a database for comparison of study parameters based on hydroxyurea exposure and dose. This study is registered with ClinicalTrials.gov, number NCT00011648. Three hundred eighty-three adults with homozygous sickle cell disease were analyzed with 59 deaths during study follow-up. Cox regression analysis revealed deceased subjects had more hepatic dysfunction (elevated alkaline phosphatase, Hazard Ratio = 1.005, 95% CI 1.003-1.006, phydroxyurea, although only 66% of those received a dose within the recommended therapeutic range. Hydroxyurea use was associated with improved survival (Hazard Ratio = 0.58, 95% CI 0.34-0.97, p = 0.040). This effect was most pronounced in those taking the recommended dose of 15-35 mg/kg/day (Hazard Ratio 0.36, 95% CI 0.17-0.73, p = 0.0050). Hydroxyurea use was not associated with changes in organ function over time. Further, subjects with higher fetal hemoglobin responses to hydroxyurea were more likely to survive (p = 0.0004). While alkaline phosphatase was lowest in patients with the best fetal hemoglobin response (95.4 versus 123.6, p = 0.0065 and 96.1 versus 113.6U/L, p = 0.041 at first and last visits, respectively), other markers of organ damage were not consistently improved over time in patients with the highest fetal hemoglobin levels. Our data suggest that adults should be treated with the maximum tolerated hydroxyurea dose, ideally before organ damage occurs. Prospective studies are indicated to validate these findings.

  17. A Cost-Effectiveness Analysis of a Pilot Neonatal Screening Program for Sickle Cell Anemia in the Republic of Angola.

    Science.gov (United States)

    McGann, Patrick T; Grosse, Scott D; Santos, Brigida; de Oliveira, Vysolela; Bernardino, Luis; Kassebaum, Nicholas J; Ware, Russell E; Airewele, Gladstone E

    2015-12-01

    To assess the cost-effectiveness of a pilot newborn screening (NBS) and treatment program for sickle cell anemia (SCA) in Luanda, Angola. In July 2011, a pilot NBS and treatment program was implemented in Luanda, Angola. Infants identified with SCA were enrolled in a specialized SCA clinic in which they received preventive care and sickle cell education. In this analysis, the World Health Organization (WHO) and generalized cost-effectiveness analysis methods were used to estimate gross intervention costs of the NBS and treatment program. To determine healthy life-years (HLYs) gained by screening and treatment, we assumed NBS reduced mortality to that of the Angolan population during the first 5 years based upon WHO and Global Burden of Diseases Study 2010 estimates, but provided no significant survival benefit for children who survive through age 5 years. A secondary sensitivity analysis with more conservative estimates of mortality benefits also was performed. The costs of downstream medical costs, including acute care, were not included. Based upon the costs of screening 36,453 infants and treating the 236 infants with SCA followed after NBS in the pilot project, NBS and treatment program is projected to result in the gain of 452-1105 HLYs, depending upon the discounting rate and survival assumptions used. The corresponding estimated cost per HLY gained is $1380-$3565, less than the gross domestic product per capita in Angola. These data demonstrate that NBS and treatment for SCA appear to be highly cost-effective across all scenarios for Angola by the WHO criteria. Copyright © 2015 Elsevier Inc. All rights reserved.

  18. Severe Painful Vaso-Occlusive Crises and Mortality in a Contemporary Adult Sickle Cell Anemia Cohort Study

    Science.gov (United States)

    Darbari, Deepika S.; Wang, Zhengyuan; Kwak, Minjung; Hildesheim, Mariana; Nichols, James; Allen, Darlene; Seamon, Catherine; Peters-Lawrence, Marlene; Conrey, Anna; Hall, Mary K.; Kato, Gregory J.; Taylor VI, James G.

    2013-01-01

    Background Frequent painful vaso-occlusive crises (VOCs) were associated with mortality in the Cooperative Study of Sickle Cell Disease (CSSCD) over twenty years ago. Modern therapies for sickle cell anemia (SCA) like hydroxyurea are believed to have improved overall patient survival. The current study sought to determine the relevance of the association between more frequent VOCs and death and its relative impact upon overall mortality compared to other known risk factors in a contemporary adult SCA cohort. Methods Two hundred sixty four SCA adults were assigned into two groups based on patient reported outcomes for emergency department (ED) visits or hospitalizations for painful VOC treatment during the 12 months prior to evaluation. Results Higher baseline hematocrit (p = 0.0008), ferritin (p = 0.005), and HDL cholesterol (p = 0.01) were independently associated with 1 or more painful VOCs requiring an ED visit or hospitalization for acute pain. During a median follow-up of 5 years, mortality was higher in the ED visit/hospitalization group (relative risk [RR] 2.68, 95% CI 1.1-6.5, p = 0.03). Higher tricuspid regurgitatant jet velocity (TRV) (RR 2.41, 95% CI 1.5-3.9, p < 0.0001), elevated ferritin (RR 4.00, 95% CI 1.8-9.0, p = 0.001) and lower glomerular filtration rate (RR=2.73, 95% CI 1.6-4.6, p < 0.0001) were also independent risk factors for mortality. Conclusions Severe painful VOCs remain a marker for SCA disease severity and premature mortality in a modern cohort along with other known risk factors for death including high TRV, high ferritin and lower renal function. The number of patient reported pain crises requiring healthcare utilization is an easily obtained outcome that could help to identify high risk patients for disease modifying therapies. Trial Registration ClinicalTrials.gov NCT00011648 http://clinicaltrials.gov/ PMID:24224021

  19. A Candidate Trans-acting Modulator of Fetal Hemoglobin Gene Expression in the Arab-Indian Haplotype of Sickle Cell Anemia

    Science.gov (United States)

    Vathipadiekal, Vinod; Farrell, John J.; Wang, Shuai; Edward, Heather L.; Shappell, Heather; Al-Rubaish, A.M.; Al-Muhanna, Fahad; Naserullah, Z.; Alsuliman, A.; Qutub, Hatem Othman; Simkin, Irene; Farrer, Lindsay A.; Jiang, Zhihua; Luo, Hong-Yuan; Huang, Shengwen; Mostoslavsky, Gustavo; Murphy, George J.; Patra, Pradeep.K.; Chui, David H.K.; Alsultan, Abdulrahman; Al-Ali, Amein K.; Sebastiani, Paola.; Steinberg, Martin. H.

    2016-01-01

    Fetal hemoglobin (HbF) levels are higher in the Arab-Indian (AI) β-globin gene haplotype of sickle cell anemia compared with African-origin haplotypes. To study genetic elements that effect HbF expression in the AI haplotype we completed whole genome sequencing in 14 Saudi AI haplotype sickle hemoglobin homozygotes—seven selected for low HbF (8.2±1.3%) and seven selected for high HbF (23.5±.2.6%). An intronic single nucleotide polymorphism (SNP) in ANTXR1, an anthrax toxin receptor (chromosome 2p13), was associated with HbF. These results were replicated in two independent Saudi AI haplotype cohorts of 120 and 139 patients, but not in 76 Saudi Benin haplotype, 894 African origin haplotype and 44 Arab Indian haplotype patients of Indian descent, suggesting that this association is effective only in the Saudi AI haplotype background. ANTXR1 variants explained 10% of the HbF variability compared with 8% for BCL11A. These two genes had independent, additive effects on HbF and together explained about 15% of HbF variability in Saudi AI sickle cell anemia patients. ANTXR1 was expressed at mRNA and protein levels in erythroid progenitors derived from induced pluripotent stem cells (iPSCs) and CD34+ cells. As CD34+ cells matured and their HbF decreased ANTXR1 expression increased; as iPSCs differentiated and their HbF increased, ANTXR1 expression decreased. Along with elements in cis to the HbF genes, ANTXR1 contributes to the variation in HbF in Saudi AI haplotype sickle cell anemia and is the first gene in trans to HBB that is associated with HbF only in carriers of the Saudi AI haplotype. PMID:27501013

  20. Effects of hydroxyurea on blood rheology in sickle cell anemia: A two-years follow-up study.

    Science.gov (United States)

    Lemonne, Nathalie; Möckesch, Berenike; Charlot, Keyne; Garnier, Yohann; Waltz, Xavier; Lamarre, Yann; Antoine-Jonville, Sophie; Etienne-Julan, Maryse; Hardy-Dessources, Marie-Dominique; Romana, Marc; Connes, Philippe

    2017-01-01

    The aim of the present study was to test the effects of hydroxyurea (HU) therapy on clinical, hematological and hemorheological parameters in adult patients with sickle cell anemia (SCA). Hematological and hemorheological parameters were measured in 28 SCA patients before HU therapy (i.e., baseline) and at 6, 12 and 24 months of treatment. RBC deformability was determined by ektacytometry at 30 Pa. RBC aggregation properties were investigated by light-backscatter method. Blood viscosity was measured at 225 s-1 by a cone-plate viscometer. The rates of vaso-occlusive crises and acute chest syndrome were lower at 1 and 2 years of HU therapy compared to baseline. The proportion of patients with leg ulcers tended to decrease after 2 years of treatment. Hemoglobin oxygen saturation improved with HU therapy. HU therapy induced a decrease of platelet and white blood cell counts and a rise in fetal hemoglobin level and mean cell volume. While hemoglobin concentrations increased under HU, blood viscosity remained unchanged all along the study. RBC deformability increased over baseline values at 6 months of HU therapy and continued to rise until the end of the follow-up period. In conclusion, the improvement in RBC deformability probably compensates the increase of hemoglobin on blood viscosity and participates to the improvement of the clinical status of patients.

  1. No fio da navalha: anemia falciforme, raça e as implicações no cuidado à saúde On the razor's edge: sickle cell anemia, race and the implications in health care

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    Josué Laguardia

    2006-04-01

    Full Text Available As propostas de políticas de saúde para a população negra têm uma história recente no cenário político brasileiro, com um destaque especial para o Programa Nacional de Anemia Falciforme (PAF. Esse programa é o resultado das ações políticas do movimento negro em prol do reconhecimento da anemia falciforme como uma doença prevalente na população negra brasileira. No seio dessa ação política foram elaborados discursos sobre a anemia falciforme que ressaltam, a partir de pressupostos biológicos e epidemiológicos, o caráter racial dessa doença. O propósito deste artigo é criticar tais pressupostos, enfatizando as implicações éticas decorrentes da racialização das doenças.The political propositions in health for the black population have a recent history in the Brazilian political setting, with a special highlight to the National Program on Sickle Cell Anemia. This program is an output of political actions launched by the black movement on behalf of the recognition of sickle cell anemia as prevalent disease among Brazilian black population. Discourses on the sickle cell anemia have been built in the core of that political action, stressing, based in biological and epidemiological assumptions, the racial character of this disease. The objective of this article is to criticize those assumptions, emphasizing the ethical implications of disease racialization.

  2. The use and effectiveness of complementary and alternative medicine for pain in sickle cell anemia.

    Science.gov (United States)

    Majumdar, Suvankar; Thompson, Wendy; Ahmad, Naveed; Gordon, Catherine; Addison, Clifton

    2013-11-01

    Pain is the clinical hallmark for sickle cell disease (SCD). The objective of this study was to survey the extent and effectiveness of complementary and alternative medicine (CAM) use for pain control among adults with SCD. Of a total of 227 African-American adults with SCD, 208 (92%) admitted to using at least one type of CAM. The three most common types of CAM were prayer (61%), relaxation technique (44%), and massage (35%). Multiple logistic regression showed that marital status was associated with use of relaxation techniques (p = 0.044), and age between 18 and 24 years and at least a high school level of education were associated with use of prayer (p = 0.008 and p = 0.004 respectively). Our study showed that CAM use is common among adult patients with SCD. Further well designed prospective studies are needed to help develop best practices that emphasize an optimized balance of conventional and evidence based CAM therapies. Copyright © 2013 Elsevier Ltd. All rights reserved.

  3. Hydroxyurea effectiveness in children and adolescents with sickle cell anemia: A large retrospective, population-based cohort.

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    Quarmyne, Maa-Ohui; Dong, Wei; Theodore, Rodney; Anand, Sonia; Barry, Vaughn; Adisa, Olufolake; Buchanan, Iris D; Bost, James; Brown, Robert C; Joiner, Clinton H; Lane, Peter A

    2017-01-01

    The clinical efficacy of hydroxyurea in patients with sickle cell anemia (SCA) has been well established. However, data about its clinical effectiveness in practice is limited. We evaluated the clinical effectiveness of hydroxyurea in a large pediatric population using a retrospective cohort, pre-post treatment study design to control for disease severity selection bias. The cohort included children with SCA (SS, Sβ 0 thalassemia) who received care at Children's Healthcare of Atlanta (CHOA) and who initiated hydroxyurea in 2009-2011. Children on chronic transfusions, or children with inadequate follow up data and/or children who had taken hydroxyurea in the 3 years prior were excluded. For each patient healthcare utilization, laboratory values, and clinical outcomes for the 2-year period prior to hydroxyurea initiation were compared to those 2 years after initiation. Of 211 children with SCA who initiated hydroxyurea in 2009-2011, 134 met eligibility criteria. After initiation of hydroxyurea, rates of hospitalizations, pain encounters, and emergency department visits were reduced by 47% (Hydroxyurea effectiveness was similar across gender, insurance types and age, although there was a slightly greater reduction in hospitalizations in younger children. Am. J. Hematol. 92:77-81, 2017. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  4. A anemia falciforme como problema de Saúde Pública no Brasil The sickle cell disease as a Public Health problem in Brazil

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    Roberto B. de Paiva e Silva

    1993-02-01

    Full Text Available Apesar de a anemia falciforme ser a doença hereditária de maior prevalência no Brasil, a literatura nacional carece de investigações a respeito dos seus aspectos de Saúde Pública. Investigou-se a realidade vivida por 80 pacientes adultos (49 mulheres e 31 homens com diagnóstico de anemia falciforme, seguidos regularmente em centro hematológico. O diagnóstico tardio da doença foi um dos principais aspectos detectados na casuística examinada. Observou-se que a problemática maior do paciente adulto com a anemia falciforme esta centrada nos aspectos econômicos, sobretudo na falta de oportunidades profissionais, apesar de os mesmos poderem participar do mercado de trabalho, desde que estejam recebendo tratamento médico adequado e exerçam funções compatíveis com as suas limitações e potencialidades. A orientação psicoterapêutica teve uma grande aceitação pelos pacientes, sem diferença significativa entre os sexos. Concluiu-se haver necessidade da implantação de programas comunitários de diagnóstico precoce e de orientação médica, social e psicológica dos doentes com a anemia falciforme no Brasil, bem como de aconselhamento genético não diretivo dos casais de heterozigotos com o traço falciforme.Sickle cell anemia is the most prevalent hereditary disease in Brazil. However, the Brazilian literature registers no investigations into the public health aspects of the disease. This present study investigates the way of life of 80 adult patients (49 women and 31 men with a diagnosis of sicklecell anemia, at a blood center in Brazil. The late diagnosis of the disease was one of the most significant aspects observed in this group of patients. It was also observed that the dominant problem faced by adult patients with sickle cell anemia is of an economic nature, mainly due to lack of professional opportunities. However, patients can well undertake economic activities under adequate medical supervision, according to their

  5. Anemia Offers Stronger Protection Than Sickle Cell Trait Against the Erythrocytic Stage of Falciparum Malaria and This Protection Is Reversed by Iron Supplementation.

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    Goheen, M M; Wegmüller, R; Bah, A; Darboe, B; Danso, E; Affara, M; Gardner, D; Patel, J C; Prentice, A M; Cerami, C

    2016-12-01

    Iron deficiency causes long-term adverse consequences for children and is the most common nutritional deficiency worldwide. Observational studies suggest that iron deficiency anemia protects against Plasmodium falciparum malaria and several intervention trials have indicated that iron supplementation increases malaria risk through unknown mechanism(s). This poses a major challenge for health policy. We investigated how anemia inhibits blood stage malaria infection and how iron supplementation abrogates this protection. This observational cohort study occurred in a malaria-endemic region where sickle-cell trait is also common. We studied fresh RBCs from anemic children (135 children; age 6-24months; hemoglobin Anemia substantially reduced the invasion and growth of both laboratory and field strains of P. falciparum in vitro (~10% growth reduction per standard deviation shift in hemoglobin). The population level impact against erythrocytic stage malaria was 15.9% from anemia compared to 3.5% for sickle-cell trait. Parasite growth was 2.4 fold higher after 49days of iron supplementation relative to baseline (panemia protects African children against falciparum malaria, an effect that is substantially greater than the protection offered by sickle-cell trait. Iron supplementation completely reversed the observed protection and hence should be accompanied by malaria prophylaxis. Lower hemoglobin levels typically seen in populations of African descent may reflect past genetic selection by malaria. National Institute of Child Health and Development, Bill and Melinda Gates Foundation, UK Medical Research Council (MRC) and Department for International Development (DFID) under the MRC/DFID Concordat. Crown Copyright © 2016. Published by Elsevier B.V. All rights reserved.

  6. Estudio del sistema nervioso periférico en pacientes con anemia drepanocítica Study of the peripheral nervous system in patients with sickle cell anemia

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    Edgardo Espinosa Martínez

    2001-08-01

    Full Text Available Se estudiaron al azar 35 pacientes adultos con anemia drepanocítica (AD, de los cuales 15 (42,9 % eran del sexo masculino y 20 (57,1 % del femenino. El promedio de edad en los hombres fue de 31 años (rango 16 - 44 años y en las mujeres de 29 años (rango 16 - 49 años. Todos los casos se encontraban en condiciones basales en el momento de realizar la investigación. Sólo en 8 enfermos (22,5 % se detectaron síntomas y signos clínicos relacionados con una posible neuropatía periférica. En el estudio de conducción nerviosa se comprobó aumento significativo de la latencia y disminución significativa de la velocidad de conducción en los nervios mediano, peroneo y sural en el total de pacientes en relación con el grupo control. En 24 enfermos (75 % se encontró algún tipo de alteración en el electromiograma (EMG. En ningún paciente hubo actividad eléctrica en el EMG en estado de reposo. No se encontró diferencia significativa en la amplitud del potencial de contracción muscular en el EMG realizado durante la contracción voluntaria entre los pacientes y el grupo control. Los músculos estriados que presentaron más alteraciones electromiográficas fueron el tibial anterior y el gemelo interno. En ningún caso se detectó el patrón de contracción muscular de oscilaciones simples. Los hallazgos de este estudio permiten plantear que en la AD la polineuropatía es frecuente y que esta es de localización periférica, de tipo mixto, con lesión axonal mínima y de curso subclínico35 adult patients with sickle cell anemia of whom 15 (42.9 % were males and 20 (57.1 % females, were studied at random. Average age in men was 31 (range 16 - 44 and in women 29 (range 16 - 49. All the cases were under basal conditions at the moment of the research. Symptoms and clinical signs related with a possible peripheral neuropathy were only detected in 8 patients (22.5 %. During the nervous conduction study, a significant increase of latency and a

  7. Genetic Modifiers of Sickle Cell Disease

    Science.gov (United States)

    Steinberg, Martin H.; Sebastiani, Paola

    2015-01-01

    Sickle cell anemia is associated with unusual clinical heterogeneity for a Mendelian disorder. Fetal hemoglobin concentration and coincident ∝ thalassemia, both which directly affect the sickle erythrocyte, are the major modulators of the phenotype of disease. Understanding the genetics underlying the heritable subphenotypes of sickle cell anemia would be prognostically useful, could inform personalized therapeutics, and might help the discovery of new “druggable” pathophysiologic targets. Genotype-phenotype association studies have been used to identify novel genetic modifiers. In the future, whole genome sequencing with its promise of discovering hitherto unsuspected variants could add to our understanding of the genetic modifiers of this disease. PMID:22641398

  8. Novel use Of Hydroxyurea in an African Region with Malaria (NOHARM): a trial for children with sickle cell anemia.

    Science.gov (United States)

    Opoka, Robert O; Ndugwa, Christopher M; Latham, Teresa S; Lane, Adam; Hume, Heather A; Kasirye, Phillip; Hodges, James S; Ware, Russell E; John, Chandy C

    2017-12-14

    Hydroxyurea treatment is recommended for children with sickle cell anemia (SCA) living in high-resource malaria-free regions, but its safety and efficacy in malaria-endemic sub-Saharan Africa, where the greatest sickle-cell burden exists, remain unknown. In vitro studies suggest hydroxyurea could increase malaria severity, and hydroxyurea-associated neutropenia could worsen infections. NOHARM (Novel use Of Hydroxyurea in an African Region with Malaria) was a randomized, double-blinded, placebo-controlled trial conducted in malaria-endemic Uganda, comparing hydroxyurea to placebo at 20 ± 2.5 mg/kg per day for 12 months. The primary outcome was incidence of clinical malaria. Secondary outcomes included SCA-related adverse events (AEs), clinical and laboratory effects, and hematological toxicities. Children received either hydroxyurea (N = 104) or placebo (N = 103). Malaria incidence did not differ between children on hydroxyurea (0.05 episodes per child per year; 95% confidence interval [0.02, 0.13]) vs placebo (0.07 episodes per child per year [0.03, 0.16]); the hydroxyurea/placebo malaria incidence rate ratio was 0.7 ([0.2, 2.7]; P = .61). Time to infection also did not differ significantly between treatment arms. A composite SCA-related clinical outcome (vaso-occlusive painful crisis, dactylitis, acute chest syndrome, splenic sequestration, or blood transfusion) was less frequent with hydroxyurea (45%) than placebo (69%; P = .001). Children receiving hydroxyurea had significantly increased hemoglobin concentration and fetal hemoglobin, with decreased leukocytes and reticulocytes. Serious AEs, sepsis episodes, and dose-limiting toxicities were similar between treatment arms. Three deaths occurred (2 hydroxyurea, 1 placebo, and none from malaria). Hydroxyurea treatment appears safe for children with SCA living in malaria-endemic sub-Saharan Africa, without increased severe malaria, infections, or AEs. Hydroxyurea provides SCA-related laboratory and clinical

  9. Hydroxyurea-Increased Fetal Hemoglobin Is Associated with Less Organ Damage and Longer Survival in Adults with Sickle Cell Anemia.

    Directory of Open Access Journals (Sweden)

    Courtney D Fitzhugh

    Full Text Available Adults with sickle cell anemia (HbSS are inconsistently treated with hydroxyurea.We retrospectively evaluated the effects of elevating fetal hemoglobin with hydroxyurea on organ damage and survival in patients enrolled in our screening study between 2001 and 2010.An electronic medical record facilitated development of a database for comparison of study parameters based on hydroxyurea exposure and dose. This study is registered with ClinicalTrials.gov, number NCT00011648.Three hundred eighty-three adults with homozygous sickle cell disease were analyzed with 59 deaths during study follow-up. Cox regression analysis revealed deceased subjects had more hepatic dysfunction (elevated alkaline phosphatase, Hazard Ratio = 1.005, 95% CI 1.003-1.006, p<0.0.0001, kidney dysfunction (elevated creatinine, Hazard Ratio = 1.13, 95% CI 1.00-1.27, p = 0.043, and cardiopulmonary dysfunction (elevated tricuspid jet velocity on echocardiogram, Hazard Ratio = 2.22, 1.23-4.02, p = 0.0082. Sixty-six percent of subjects were treated with hydroxyurea, although only 66% of those received a dose within the recommended therapeutic range. Hydroxyurea use was associated with improved survival (Hazard Ratio = 0.58, 95% CI 0.34-0.97, p = 0.040. This effect was most pronounced in those taking the recommended dose of 15-35 mg/kg/day (Hazard Ratio 0.36, 95% CI 0.17-0.73, p = 0.0050. Hydroxyurea use was not associated with changes in organ function over time. Further, subjects with higher fetal hemoglobin responses to hydroxyurea were more likely to survive (p = 0.0004. While alkaline phosphatase was lowest in patients with the best fetal hemoglobin response (95.4 versus 123.6, p = 0.0065 and 96.1 versus 113.6U/L, p = 0.041 at first and last visits, respectively, other markers of organ damage were not consistently improved over time in patients with the highest fetal hemoglobin levels.Our data suggest that adults should be treated with the maximum tolerated hydroxyurea dose

  10. [Sickle-cell anemia in the 1st 5 years of life].

    Science.gov (United States)

    Svarch, E; Nordet, I; Machín, S; Fernández, L; Muñiz, A; Wade, M

    1996-02-01

    A programme for antenatal diagnosis of sickle-cell anaemia (SA) and SC haemoglobinopathy (SC) was started in Cuba in 1983. The purpose of this paper is to report the clinical and haematological data of a group of children diagnosed before birth or in the first few months of life. Between June 1986 and December 1992, 78 children under 5 years of age were studied at the Haemoglobinpathies Clinic of the Instituto de Hematología e Inmunologia in La Habana; of them, 53 had SA and 25 had SC, there were 41 girls and 37 boys. A comprehensive questionnaire was carried out during the first visit to the clinic, about the onset of the clinical manifestations, as well as a careful physical examination plus peripheral blood study and Hb A2 and Hb F assay. Parents were informed, and folate and prophylactic penicillin were given orally to the children. The yearly average admissions to hospital were 1.6 +/- 3.8 for SA and 0.1 +/- 0.6 for SC. The average number of veno-occlusive crises was 0.2 +/- 0.6 in SA and 0.1 +/- 0.6 in SC (p < 0.04); the average hand-foot crises were 0.3 +/- 1.1. for SA and nil for SC. The average number of infections per year was 0.3 +/- 0.6 in SA and 0.1 +/-0.3 in SC, without any significant difference. Significant differences were found in the haemoglobin rates and reticulocyte counts between both haemoglobinopathies. Hb F rate was 7.80 +/- 4.78% in SA and 2.83 +/- 3.45% in SC. Admission to hospital, hand-foot crises, infections and splenic sequestration are the commonest clinical events during the first 5 years of life. The number of infections episodes decreases with prophylactic oral penicillin, and overacute pneumococcal infection is suppressed. Parent education allows one to early treat sequestration crises, and partial splenectomy avoids repetition of this complication, while preserving the splenic function.

  11. Frequency and Risk Factors of Endocrine Complications in Turkish Children and Adolescents with Sickle Cell Anemia

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    Samim Özen

    2013-03-01

    Full Text Available Objective: To define frequency and risk factors of abnormalities in growth, puberty, thyroid function, and bone and carbohydrate metabolisms in children and adolescents with sickle cell disease (SCD. Materials and Methods: Endocrine problems including short stature, puberty and thyroid disorders, and carbohydrate and bone metabolisms in 50 Turkish children and adolescents with SCD were evaluated. Relationships among sex, disease type, blood transfusions, exchange and exacerbation frequency, ferritin levels, and endocrine pathologies were investigated. Results: The mean age of the study group was 13.1±2.9 years. Weights and heights of 12 participants (24% were below -2 standard deviations and 4 participants (8% had malnutrition. Mean difference (±standard deviation between bone and chronological age of patients was -1.73±1.86 years. Fifty percent of patients had at least one endocrine abnormality other than vitamin D deficiency and insufficiency. Hypergonadotropic hypogonadism in 3 patients (6%, hypogonadotropic hypogonadism in 1 female patient (2%, and small testicular volume in respect to age in 3 male patients (8.5% were seen. Growth hormone deficiency was detected in 1 (2% female patient, and hypothyroidism was diagnosed in 3 patients (6%; 1 central case, 2 cases of primary hypothyroidism. At vertebral level, 5 patients (11.1% had osteopenia and 1 patient (2.2% had osteoporosis, while 5 patients (11.1% had osteopenia at femur neck level. The most common endocrine abnormality was vitamin D deficiency. 25-Hydroxyvitamin D was deficient in 63.2% and insufficient in 18.4% of patients. Sex, disease type, blood transfusion frequency, exacerbation frequency, and ferritin levels were not related to endocrine pathologies. As the age was increased, standard deviation scores of femur neck bone mineral density was decreased (r =-0.56; p<0.05. Vitamin D was lower in patients whose weights and/or heights were below -2 standard deviations from the mean

  12. O significado da anemia falciforme no contexto da 'política racial' do governo brasileiro 1995-2004 The significance of sickle cell anemia within the context of the Brazilian government's 'racial policies' (1995-2004

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    Peter H. Fry

    2005-08-01

    Full Text Available O objetivo deste ensaio é refletir sobre o significado social de um crescente interesse pela anemia falciforme e outras doenças associadas ao corpo negro no Brasil. Investigarei a rede discursiva que se formou em torno da doença no contexto social da sua produção. Começo resumindo a analise feita do antropólogo Melbourne Tapper, do programa de combate à Anemia Falciforme nos Estados Unidos nos anos 70, logo após as vitórias dos negros na luta pelos direitos civis. Tapper (1999 argumenta que uma das conseqüências dessa política foi a criação de uma comunidade negra cidadã e responsável. O Programa de Anemia Falciforme, desenvolvido pelo governo brasileiro com participação de ativistas negros a partir da década de 1990, também contribui para a formação e de uma "comunidade negra responsável". O argumento do artigo é que a anemia falciforme torna-se muito mais que uma doença a ser erradicada. O discurso em torno dela é um poderoso elemento no processo de naturalização da "raça negra" (e, por oposição lógica e política, da "raça branca" num país que se imaginava como biológica e culturalmente híbrido.This essay reflects on the social significance of growing interest in sickle cell anemia and other illnesses associated with the black body in Brazil. I explore the discursive network that has taken shape around the disease within the social context of its production. I first summarize anthropologist Melbourne Tapper's analysis of the United States program to fight sickle cell anemia in the 1970s, shortly after blacks attained victories in the civil rights movement. Tapper (1999 argues that one of the consequences of this policy was the creation of a responsible black citizenry. In the late 1990s, the Brazilian government developed a program (Programa de Anemia Falciforme that counted on the heavy participation of black activists and that also contributed to the formation of a "responsible black community. My

  13. Study of gonadal hormones in Egyptian female children with sickle cell anemia in correlation with iron overload: Single center study.

    Science.gov (United States)

    Hagag, Adel A; El-Farargy, Mohamed S; Elrefaey, Shaymaa; Abo El-enein, Amany M

    2016-03-01

    Sickle cell disease is a hereditary hemoglobinopathy characterized by abnormal hemoglobin production, hemolytic anemia, and intermittent occlusion of small blood vessels, leading to tissue ischemia, chronic organ damage, and organ dysfunction including endocrine organs. The aim of this work was to evaluate some gonadal hormones in female children with sickle cell anemia (SCA) in correlation with iron overload. This study was conducted on 40 female children with SCA with a serum ferritin of > 1000ng/mL, who were attendants at the Hematology Unit, Pediatric Department, Tanta University, Tanta, Egypt in the period from May 2012 to April 2014. Their ages ranged from 11 years to 15years and the mean age value was 12.63±1.36 years (Group I). Forty female children with SCA of matched age with no iron overload served as a control Group (Group II). For all patients in Groups I and II the following were performed/assessed: complete blood count, hemoglobin electrophoresis, serum iron status, serum estrogen, luteinizing hormone (LH), and follicle-stimulating hormone (FSH). There were significantly higher serum ferritin and serum iron levels and significantly lower total iron binding capacity, FSH, LH, and estrogen levels in Group I compared with Group II (mean serum ferritin was 2635.1±918.9 in Group I vs. 292.55±107.2 in Group II with a p value of .001; mean serum iron was 196.3±55.6 in Group I vs. 120±16.57 in Group II with a p value of .001 and mean serum total iron binding capacity was 247.3±28.6 in Group I vs. 327.8.7±21.96 in Group II with a p value of .001; mean FSH level was 1.36±0.22mIU/mL in Group I vs. 2.64±0.81mIU/mL in Group II with a p value of .021; mean LH level was 0.11±0.006mIU/mL in Group I vs. 1.78±1.12mIU/mL in Group II with a p value of .003; mean estrogen level was 21.45±10.23pg/mL in Group I vs. 42.36±15.44pg/mL in Group II with a p value of 0.001) with significant negative correlation between serum gonadal hormones and serum ferritin (r

  14. THE EDUCATION AND ENVIROMENT AS KEY FACTORS IN NURSING CARE TO CLIENTS WITH SICKLE CELL ANEMIA

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    Priscila Sanchez Bosco

    2012-01-01

    Full Text Available Objetivos: objetivos levantar informações atualizadas acerca das novas concepções sobre o cuidado de Enfermagem para clientes portadores de anemias hemolíticas e discutir as novas concepções acerca do cuidado de Enfermagem para os clientes portadores de anemias hemolíticas. Métodos: O presente estudo foi extraído de um projeto de pesquisa que tem como tema as novas concepções acerca do cuidado de Enfermagem para o cliente portador de anemias hemolíticas crônicas. Foi desenvolvido no ano de 2008 como parte do projeto de pesquisa da Universidade Federal do Estado do Rio de Janeiro. Foram utilizados como fontes, bases de dados eletrônicos além de levantamento junto às bibliotecas tradicionais. Resultados: Durante a coleta de dados foram levantados: 36 ARTIGOS “ON LINE”; 10 oriundos de BIBLIOTECAS CONVENCIONAIS e 4 DISSERTAÇÕES E 1 TESE. Conclusão: Conclui-se que o meio ambiente exerce força sobre estes clientes e que os enfermeiros podem utilizar-se de estratégias educacionais para que tanto estes clientes consigam conviver com a anemia falciforme de forma mais harmônica, sem o medo e a angústia que, geralmente se mostram presentes.

  15. Hydroxyurea Therapy for Children With Sickle Cell Anemia in Sub‐Saharan Africa: Rationale and Design of the REACH Trial

    Science.gov (United States)

    Tshilolo, Léon; Santos, Brigida; Tomlinson, George A.; Stuber, Susan; Latham, Teresa; Aygun, Banu; Obaro, Stephen K.; Olupot‐Olupot, Peter; Williams, Thomas N.; Odame, Isaac; Ware, Russell E.

    2015-01-01

    Background Sickle cell anemia (SCA) is an inherited hematological disorder that causes a large but neglected global health burden, particularly in Africa. Hydroxyurea represents the only available disease‐modifying therapy for SCA, and has proven safety and efficacy in high‐resource countries. In sub‐Saharan Africa, there is minimal use of hydroxyurea, due to lack of data, absence of evidence‐based guidelines, and inexperience among healthcare providers. Procedure A partnership was established between investigators in North America and sub‐Saharan Africa, to develop a prospective multicenter research protocol designed to provide data on the safety, feasibility, and benefits of hydroxyurea for children with SCA. Results The Realizing Effectiveness Across Continents with Hydroxyurea (REACH, ClinicalTrials.gov NCT01966731) trial is a prospective, phase I/II open‐label dose escalation study of hydroxyurea that will treat a total of 600 children age 1–10 years with SCA: 150 at each of four different clinical sites within sub‐Saharan Africa (Angola, Democratic Republic of Congo, Kenya, and Uganda). The primary study endpoint will be severe hematological toxicities that occur during the fixed‐dose treatment phase. REACH has an adaptive statistical design that allows for careful assessment of toxicities to accurately identify a safe hydroxyurea dose. Conclusions REACH will provide data that address critical gaps in knowledge for the treatment of SCA in sub‐Saharan Africa. By developing local expertise with the use of hydroxyurea and helping to establish treatment guidelines, the REACH trial results will have the potential to transform care for children with SCA in Africa. Pediatr Blood Cancer © 2015 Wiley Periodicals, Inc. PMID:26275071

  16. Hydroxyurea Therapy for Children With Sickle Cell Anemia in Sub-Saharan Africa: Rationale and Design of the REACH Trial.

    Science.gov (United States)

    McGann, Patrick T; Tshilolo, Léon; Santos, Brigida; Tomlinson, George A; Stuber, Susan; Latham, Teresa; Aygun, Banu; Obaro, Stephen K; Olupot-Olupot, Peter; Williams, Thomas N; Odame, Isaac; Ware, Russell E

    2016-01-01

    Sickle cell anemia (SCA) is an inherited hematological disorder that causes a large but neglected global health burden, particularly in Africa. Hydroxyurea represents the only available disease-modifying therapy for SCA, and has proven safety and efficacy in high-resource countries. In sub-Saharan Africa, there is minimal use of hydroxyurea, due to lack of data, absence of evidence-based guidelines, and inexperience among healthcare providers. A partnership was established between investigators in North America and sub-Saharan Africa, to develop a prospective multicenter research protocol designed to provide data on the safety, feasibility, and benefits of hydroxyurea for children with SCA. The Realizing Effectiveness Across Continents with Hydroxyurea (REACH, ClinicalTrials.gov NCT01966731) trial is a prospective, phase I/II open-label dose escalation study of hydroxyurea that will treat a total of 600 children age 1-10 years with SCA: 150 at each of four different clinical sites within sub-Saharan Africa (Angola, Democratic Republic of Congo, Kenya, and Uganda). The primary study endpoint will be severe hematological toxicities that occur during the fixed-dose treatment phase. REACH has an adaptive statistical design that allows for careful assessment of toxicities to accurately identify a safe hydroxyurea dose. REACH will provide data that address critical gaps in knowledge for the treatment of SCA in sub-Saharan Africa. By developing local expertise with the use of hydroxyurea and helping to establish treatment guidelines, the REACH trial results will have the potential to transform care for children with SCA in Africa. © 2015 The Authors. Pediatric Blood & Cancer Published by Wiley Periodicals, Inc.

  17. PREVENTION OF CONVERSION TO ABNORMAL TCD WITH HYDROXYUREA IN SICKLE CELL ANEMIA: A PHASE III INTERNATIONAL RANDOMIZED CLINICAL TRIAL

    Science.gov (United States)

    Hankins, Jane S.; McCarville, M. Beth; Rankine-Mullings, Angela; Reid, Marvin E.; Lobo, Clarisse L.C.; Moura, Patricia G.; Ali, Susanna; Soares, Deanne; Aldred, Karen; Jay, Dennis W.; Aygun, Banu; Bennett, John; Kang, Guolian; Goldsmith, Jonathan C.; Smeltzer, Matthew P.; Boyett, James M.; Ware, Russell E.

    2015-01-01

    Children with sickle cell anemia (SCA) and conditional transcranial Doppler (TCD) ultrasound velocities (170-199 cm/sec) may develop stroke. However, with limited available clinical data, the current standard of care for conditional TCD velocities is observation. The efficacy of hydroxyurea in preventing conversion from conditional to abnormal TCD (≥200 cm/sec), which confers a higher stroke risk, has not been studied prospectively in a randomized trial. Sparing Conversion to Abnormal TCD Elevation (SCATE #NCT01531387) was an NHLBI-funded Phase III multicenter international clinical trial comparing alternative therapy (hydroxyurea) to standard care (observation) to prevent conversion from conditional to abnormal TCD velocity in children with SCA. SCATE enrolled 38 children from the United States, Jamaica, and Brazil [HbSS (36), HbSβ0-thalassemia (1), and HbSD (1), median age 5.4 years (range, 2.7-9.8)]. Due to slow patient accrual and administrative delays, SCATE was terminated early. In an intention-to-treat analysis, the cumulative incidence of abnormal conversion was 9% (95% CI 0 to 35%) in the hydroxyurea arm and 47% (95% CI 6 to 81%) in observation arm at 15 months (p=0.16). In post-hoc analysis according to treatment received, significantly fewer children on hydroxyurea converted to abnormal TCD velocities, compared to observation (0% versus 50%, p=0.02). After a mean of 10.1 months, a significant change in mean TCD velocity was observed with hydroxyurea treatment (−15.5 versus +10.2 cm/sec, p=0.02). No stroke events occurred in either arm. Hydroxyurea reduces TCD velocities in children with SCA and conditional velocities. PMID:26414435

  18. Prevention of conversion to abnormal transcranial Doppler with hydroxyurea in sickle cell anemia: A Phase III international randomized clinical trial.

    Science.gov (United States)

    Hankins, Jane S; McCarville, Mary Beth; Rankine-Mullings, Angela; Reid, Marvin E; Lobo, Clarisse L C; Moura, Patricia G; Ali, Susanna; Soares, Deanne P; Aldred, Karen; Jay, Dennis W; Aygun, Banu; Bennett, John; Kang, Guolian; Goldsmith, Jonathan C; Smeltzer, Matthew P; Boyett, James M; Ware, Russell E

    2015-12-01

    Children with sickle cell anemia (SCA) and conditional transcranial Doppler (TCD) ultrasound velocities (170-199 cm/sec) may develop stroke. However, with limited available clinical data, the current standard of care for conditional TCD velocities is observation. The efficacy of hydroxyurea in preventing conversion from conditional to abnormal TCD (≥200 cm/sec), which confers a higher stroke risk, has not been studied prospectively in a randomized trial. Sparing Conversion to Abnormal TCD Elevation (SCATE #NCT01531387) was a National Heart, Lung, and Blood Institute-funded Phase III multicenter international clinical trial comparing alternative therapy (hydroxyurea) to standard care (observation) to prevent conversion from conditional to abnormal TCD velocity in children with SCA. SCATE enrolled 38 children from the United States, Jamaica, and Brazil [HbSS (36), HbSβ(0) -thalassemia (1), and HbSD (1), median age = 5.4 years (range, 2.7-9.8)]. Because of the slow patient accrual and administrative delays, SCATE was terminated early. In an intention-to-treat analysis, the cumulative incidence of abnormal conversion was 9% (95% CI = 0-35%) in the hydroxyurea arm and 47% (95% CI = 6-81%) in observation arm at 15 months (P = 0.16). In post hoc analysis according to treatment received, significantly fewer children on hydroxyurea converted to abnormal TCD velocities when compared with observation (0% vs. 50%, P = 0.02). After a mean of 10.1 months, a significant change in mean TCD velocity was observed with hydroxyurea treatment (-15.5 vs. +10.2 cm/sec, P = 0.02). No stroke events occurred in either arm. Hydroxyurea reduces TCD velocities in children with SCA and conditional velocities. © 2015 Wiley Periodicals, Inc.

  19. Seroprevalence of parvovirus B19 antibodies and evidence of viremia among Nigerian patients with sickle cell anemia

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    Iwalokun, Bamidele Abiodun; Iwalokun, Senapon Olusola; Hodonu, Semande Olufunmilayo

    2013-01-01

    Clinical, biochemical and molecular evidence for the sickle cell anemia (SCA) crisis in Nigerian patients arising from parvovirus b19 infection remains inadequate. This study determined the prevalence and correlates of anti-parvovirus b19 antibodies in a population of SCA patients and non-SCA healthy controls in Lagos, Nigeria. In this prospective cross-sectional study, we enrolled 73 confirmed SCA patients from 5 district hospitals in Lagos and 81 sex and age-matched non-SCA healthy controls. Serum sample from each study participant was screened for anti-parvovirus b19 by ELISA and PCR techniques. Standard biomedical assays were also done. Anti-parvovirus b19 IgM and IgG antibodies were detected in 22 (14.3%) and 97 (62.9%) of the 154 sera screened, 13 (17.8%) and 45 (61.6%) in SCA patients; 9 (11.1%) and 52 (64.2%) in non-SCA controls. The overall seronegativity rate was 19.5%. Parvovirus B19 DNA was found in 2 (11.1%) of the 18 IgM seropositive SCA serum samples screened. On the whole, parvovirus b19 infection was more commonly asymptomatic in non-SCA controls but caused significant elevation in liver enzymes in infected SCA patients (P parvovirus b19 infection increased 65 times during unsteady state among the SCA patients. Although no deaths of infected patients were recorded during the study, age below 12 years, hospitalization and overcrowded environment were risk factors for infection. We conclude that parvovirus b19 is common in SCA patients, incurring greater susceptibility to infections. PMID:23885266

  20. Seroprevalence of parvovirus B19 antibodies and evidence of viremia among Nigerian patients with sickle cell anemia.

    Science.gov (United States)

    Iwalokun, Bamidele Abiodun; Iwalokun, Senapon Olusola; Hodonu, Semande Olufunmilayo

    2013-07-01

    Clinical, biochemical and molecular evidence for the sickle cell anemia (SCA) crisis in Nigerian patients arising from parvovirus b19 infection remains inadequate. This study determined the prevalence and correlates of anti-parvovirus b19 antibodies in a population of SCA patients and non-SCA healthy controls in Lagos, Nigeria. In this prospective cross-sectional study, we enrolled 73 confirmed SCA patients from 5 district hospitals in Lagos and 81 sex and age-matched non-SCA healthy controls. Serum sample from each study participant was screened for anti-parvovirus b19 by ELISA and PCR techniques. Standard biomedical assays were also done. Anti-parvovirus b19 IgM and IgG antibodies were detected in 22 (14.3%) and 97 (62.9%) of the 154 sera screened, 13 (17.8%) and 45 (61.6%) in SCA patients; 9 (11.1%) and 52 (64.2%) in non-SCA controls. The overall seronegativity rate was 19.5%. Parvovirus B19 DNA was found in 2 (11.1%) of the 18 IgM seropositive SCA serum samples screened. On the whole, parvovirus b19 infection was more commonly asymptomatic in non-SCA controls but caused significant elevation in liver enzymes in infected SCA patients (P parvovirus b19 infection increased 65 times during unsteady state among the SCA patients. Although no deaths of infected patients were recorded during the study, age below 12 years, hospitalization and overcrowded environment were risk factors for infection. We conclude that parvovirus b19 is common in SCA patients, incurring greater susceptibility to infections.

  1. Measurements of red cell deformability and hydration reflect HbF and HbA2 in blood from patients with sickle cell anemia.

    Science.gov (United States)

    Parrow, Nermi L; Tu, Hongbin; Nichols, James; Violet, Pierre-Christian; Pittman, Corinne A; Fitzhugh, Courtney; Fleming, Robert E; Mohandas, Narla; Tisdale, John F; Levine, Mark

    2017-06-01

    Decreased erythrocyte deformability, as measured by ektacytometry, may be associated with disease severity in sickle cell anemia (SCA). Heterogeneous populations of rigid and deformable cells in SCA blood result in distortions of diffraction pattern measurements that correlate with the concentration of hemoglobin S (HbS) and the percentage of irreversibly sickled cells. We hypothesize that red cell heterogeneity, as well as deformability, will also be influenced by the concentration of alternative hemoglobins such as fetal hemoglobin (HbF) and the adult variant, HbA 2 . To test this hypothesis, we investigate the relationship between diffraction pattern distortion, osmotic gradient ektacytometry parameters, and the hemoglobin composition of SCA blood. We observe a correlation between the extent of diffraction pattern distortions and percentage of HbF and HbA 2 . Osmotic gradient ektacytometry data indicate that minimum elongation in the hypotonic region is positively correlated with HbF, as is the osmolality at which it occurs. The osmolality at both minimum and maximum elongation is inversely correlated with HbS and HbA 2 . These data suggest that HbF may effectively improve surface-to-volume ratio and osmotic fragility in SCA erythrocytes. HbA 2 may be relatively ineffective in improving these characteristics or cellular hydration at the levels found in this patient cohort. Copyright © 2017. Published by Elsevier Inc.

  2. Modificaciones funcionales ventilatorias en pacientes con anemia drepanocítica y antecedentes de síndrome torácico agudo Respiratory functional changes in patients with sickle cell anemia and history of acute chest synd

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    José René Mesa Cuervo

    2002-08-01

    Full Text Available Se realizó un estudio descriptivo prospectivo para evaluar la función ventilatoria en pacientes con anemia drepanocítica (AD y antecedentes de síndrome torácico agudo (STA atendidos en consulta externa del Instituto de Hematología e Inmunología de septiembre de 1999 a septiembre del 2000. El universo de estudio se dividió en 2 grupos: el primero constituido por 36 pacientes con el diagnóstico de AD y antecedente de STA, y el segundo por 17, con una distribución por edades y sexos similar al anterior con AD, pero sin el antecedente de STA. A todos los pacientes seleccionados se les realizaron las pruebas funcionales ventilatorias (PFV siguiendo criterios internacionales. La disfunción ventilatoria restrictiva se observó en todos los pacientes con AD independiente del antecedente de STA, sin embargo, el antecedente de 2 y más STA mostró los mayores porcentajes. La edad y el sexo no influyeron en los resultados espirométicosA prospective descriptive study was made to evaluate the respiratory function in patients with sickle cell anemia and history of acute chest syndrome seen at the outpatient service of the Institute of Hematology and Immunology from September 1999 to September 2000. The universe of study was divided into 2 groups: the first was made up of 36 patients diagnosed with sickle cell anemia and history of acute thoracic syndrome; and the second included 17 patients with sickle cell anemia, distributed by age and sex in a similar way as in the first one, but without history of acute chest syndrome. All the selected patients were applied the respiratory function tests according to the international criteria. Restrictive respiratory dysfunction was observed in all patients with sickle cell anemia regardless of their history of acute chest syndrome; however, the history of two or more syndromes showed the highest percentages. Age and sex did not influence the results

  3. A Multidisciplinary Health Care Team's Efforts to Improve Educational Attainment in Children with Sickle-Cell Anemia and Cerebral Infarcts

    Science.gov (United States)

    King, Allison; Herron, Sonya; McKinstry, Robert; Bacak, Stephen; Armstrong, Melissa; White, Desiree; DeBaun, Michael

    2006-01-01

    The primary objective of this study was to improve the educational success of children with sickle-cell disease (SCD) and cerebral infarcts. A prospective intervention trial was conducted; a multidisciplinary team was created to maximize educational resources for children with SCD and cerebral infarcts. Students were evaluated systematically…

  4. Sickle cell anemia induces changes in peripheral lymphocytes E-NTPDase/E-ADA activities and cytokines secretion in patients under treatment.

    Science.gov (United States)

    Castilhos, Lívia G; Doleski, Pedro H; Bertoldo, Tatiana M D; Passos, Daniela F; Bertoncheli, Claudia de M; Rezer, João F P; Schlemmer, Josiane B; Leal, Daniela B R

    2015-07-01

    Sickle cell anemia (SCA) is characterized by hemoglobin polymerization that results in sickle-shaped red blood cells. The vascular obstruction by sickle erythrocytes is often inflammatory, and purinergic system ecto-enzymes play an important role in modulating the inflammatory and immune response. This study aimed to evaluate the E-NTPDase and E-ADA activities in lymphocytes of SCA treated patients, as well as verify the cytokine profile in this population. Fifteen SCA treated patients and 30 health subjects (control group) were selected. The peripheral lymphocytes were isolated and E-NTPDase and E-ADA activities were determined. Serum was separated from clot formation for the cytokines quantification. E-NTPDase (ATP and ADP as substrate) and E-ADA (adenosine as substrate) activities were increased in lymphocytes from SCA patients (PADA enzymes represent an important control of purine-mediated in the SCA disease, avoiding elevated adenosine levels in the extracellular medium and consequent organ injuries in these patients. The pro-inflammatory cytokines decreased levels by use of hydroxyurea occur in attempt to reduce the pro-inflammatory response and prevent vaso-oclusive crisis. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  5. Aplasia transitória da série vermelha na anemia falciforme Transient red cell aplasia in sickle cell disease

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    Mônica P. A. Veríssimo

    2007-09-01

    Full Text Available A doença falciforme, devido à vida média encurtada das hemácias, pelo quadro de hemólise crônica, pode apresentar um quadro clínico grave de anemia quando ocorre supressão da eritropoese devida à infecção pelo Parvovírus humano B19. O quadro clínico apresenta-se com febre, que pode preceder a anemia grave, fraqueza e mal- estar, além de sinais laboratoriais como queda da hemoglobina e reticulocitopenia importante. Diagnóstico laboratorial pode ser por imunofluorescência ou ensaio enzimático. O tratamento é a transfusão de concentrado de hemácias. Pode haver complicações associadas a esta infecção, tais como seqüestro esplênico, seqüestro hepático, síndrome torácica aguda, síndrome nefrótica, meningoencefalite e acidente vascular cerebral. Estratégias de prevenção poderão mudar a morbi-mortalidade desta condição no paciente portador de doença falciforme.Sickle cell disease due to shortened life span of red blood cells by hemolysis, may present with severe anemia when erythropoietic suppression occurs due to infection by the Human parvovirus B19. The clinical presentation presents with fever, which may precede transient red cell aplasia, as well as laboratorial signs such as a drop in hemoglobin and significant reticulo cytopenia. Laboratorial diagnosis may be by immunofluorescence or enzymatic assays. Treatment is achieved by transfusion of packed red blood cells. Complications may be associated to this infection, including splenic and hepatic sequestration, acute chest syndrome, nephrotic syndrome, meningoencephalitis and strokes. Strategies of prevention are able to change the morbidity and mortality of this condition in sickle cell disease patients.

  6. Fatores de risco para aloimunização em pacientes com anemia falciforme Risk factors for alloimmunization in patients with sickle cell anemia

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    Patrícía Costa Alves Pinto

    2011-12-01

    Full Text Available OBJETIVO: Determinar a imunofenotipagem eritrocitária em doadores de sangue e em pacientes com anemia falciforme (SS atendidos no Hemocentro de Alagoas e descrever a frequência e os fatores associados à aloimunização eritrocitária. MÉTODOS: Estudo transversal com 102 pacientes SS e 100 doadores de sangue. Realizou-se a fenotipagem eritrocitária, teste de Coombs Direto e Indireto e detecção de anticorpos irregulares por painel de hemácias fenotipadas. Os dados foram comparados por meio do teste de Mann-Whitney, qui-quadrado ou teste exato de Fisher. Para análise dos fatores associados à aloimunização utilizou-se a regressão logística univariada e múltipla. RESULTADOS: Os antígenos mais frequentes entre os pacientes e os doadores foram c, e, M, s, JK(a. Observaram-se diferenças significativas entre as frequências dos fenótipos dos pacientes e dos doadores em relação aos antígenos s, FY(a e JK(b. Dos 79 pacientes transfundidos, 10 (12,7% apresentaram Coombs Indireto positivo. Detectaram-se 13 aloanticorpos, sete do sistema Rh, dois do Kell e quatro não identificados. Os fatores associados à aloimunização foram o intervalo de tempo entre a última transfusão e a data do teste e ter recebido mais de dez transfusões de hemácias. Receber mais de dez transfusões representou uma chance 16,39 (IC 95%: 2,23-120,59 vezes maior de ser aloimunizado, em comparação aos que receberam menos que dez. CONCLUSÃO: A prevalência de aloimunização nos pacientes SS foi 12,7%, sendo 70% dos anticorpos encontrados pertencentes a grupos sanguíneos Rh e Kell. Este estudo mostra a importância da fenotipagem eritrocitária em doadores e receptores para diminuir o risco de aloimunização.OBJECTIVE: To determine erythrocyte phenotyping in blood donors and patients with sickle cell anemia (SS treated at Hemocentro of Alagoas and describe the frequency and factors associated with erythrocyte alloimmunization. METHODS: Cross-sectional study

  7. Decreased hematocrit-to-viscosity ratio and increased lactate dehydrogenase level in patients with sickle cell anemia and recurrent leg ulcers.

    Directory of Open Access Journals (Sweden)

    Philippe Connes

    Full Text Available Leg ulcer is a disabling complication in patients with sickle cell anemia (SCA but the exact pathophysiological mechanisms are unknown. The aim of this study was to identify the hematological and hemorheological alterations associated with recurrent leg ulcers. Sixty-two SCA patients who never experienced leg ulcers (ULC- and 13 SCA patients with a positive history of recurrent leg ulcers (ULC+--with no leg ulcers at the time of the study--were recruited. All patients were in steady state condition. Blood was sampled to perform hematological, biochemical (hemolytic markers and hemorheological analyses (blood viscosity, red blood cell deformability and aggregation properties. The hematocrit-to-viscosity ratio (HVR, which reflects the red blood cell oxygen transport efficiency, was calculated for each subject. Patients from the ULC+ group were older than patients from the ULC- group. Anemia (red blood cell count, hematocrit and hemoglobin levels was more pronounced in the ULC+ group. Lactate dehydrogenase level was higher in the ULC+ group than in the ULC- group. Neither blood viscosity, nor RBC aggregation properties differed between the two groups. HVR was lower and RBC deformability tended to be reduced in the ULC+ group. Our study confirmed increased hemolytic rate and anemia in SCA patients with leg ulcers recurrence. Furthermore, our data suggest that although systemic blood viscosity is not a major factor involved in the pathophysiology of this complication, decreased red blood cell oxygen transport efficiency (i.e., low hematocrit/viscosity ratio may play a role.

  8. Hipertensión pulmonar en el adulto con anemia drepanocítica. Resultados preliminares Pulmonary hypertension in adults with sickle cell anemia. Preliminary results

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    Edgardo Espinosa Martínez

    2010-12-01

    Full Text Available Se evaluaron 104 pacientes adultos con anemia drepanocítica clasificados en: grupo 1 (G1 pacientes sin hipertensión pulmonar (HTP (n=74; y grupo 2 (G2 pacientes con HTP (n=30. Se observó disminución estadísticamente significativa para la hemoglobina, el hematócrito y la oximetría de pulso, y aumento significativo de los leucocitos, la deshidrogenasa láctica, la bilirrubina total e indirecta, la creatin-kinasa MB y la creatinina en los pacientes del G2. La prueba de X² mostró diferencia significativa entre los grupos para el síndrome torácico agudo (p=0,05 con mayor frecuencia en el G2. La frecuencia de HTP en el total de enfermos evaluados fue del 28,8 %. Las extrasístoles ventriculares fueron las alteraciones más frecuentes en el electrocardiograma en el G1, y la hipertrofia del ventrículo izquierdo en el G2; mientras que en el ecocardiograma Doppler fue la dilatación del ventrículo izquierdo en ambos grupos. De los casos diagnosticados con HTP (n=30, 27 (73,3 % fueron clasificados como grado 1; 7 (23,3 % grado 2 y 1 (3,4 % grado 3.A total of 104 adult patients presenting with sickle cell disease were assessed and classified into: group 1 (G1 patients without pulmonary hypertension (PHT (n = 74 and group 2 (G2 patients with PHT (n = 30. There was a statistically significant decrease for hemoglobin, hematocrit and pulse oximeter and a significant increase of leukocytes, the lactic dehydrogenase, the total and indirect bilirubin, la MB creatine kinase and the creatinine in the G2-patients. The X² test demonstrate a significant difference among groups for the acute thoracic syndrome (p = 0,05 more frequent in the G2. The PHT frequency in all patients assessed was of 28,8%. The ventricular extrasystoles were the more frequent alterations in the electrocardiogram in the G1 and the left ventricle hypertrophy in the G2; whereas in the Doppler echocardiogram the more frequent as the left ventricle dilatation in both groups. From the

  9. Assessment of biochemical liver function tests in relation to age among steady state sickle cell anemia patients.

    Science.gov (United States)

    Akuyam, S A; Abubakar, A; Lawal, N; Yusuf, R; Aminu, S M; Hassan, A; Musa, A; Bello, A K; Yahaya, I A; Okafor, P A

    2017-11-01

    Multiorgan failure including liver dysfunction is a common finding in sickle cell anemia (SCA) patients, the cause of which is multifactorial with advancing age said to be a major determinant. There is a paucity of data on liver function among SCA patients in relation to age in northern Nigerian hospitals, including Ahmadu Bello University Teaching Hospital (ABUTH), Zaria. This study was to assess the biochemical liver function tests (LFTs) as they relate to age among SCA patients in steady state, with a view to improving the overall monitoring of these patients. This study was carried out in ABUTH, Zaria, Northern Nigeria. LFTs were carried out in 100 SCA and 100 apparently healthy participants (controls). The SCA group was made up of fifty adults and fifty children diagnosed of SCA, whereas the control group was made up of fifty adults and fifty children who were apparently healthy and had hemoglobin AA. Paired two-tailed Student's t-test for matched samples and Pearson's linear correlation statistical methods were employed for the data analysis using Microsoft Office Excel 2007. A P ≤ 0.05 was considered as statistically significant. The serum concentrations of total bilirubin (TB), alanine transaminase (ALT), aspartate transaminase (AST), alkaline phosphatase (ALP), and AST/ALT ratio were significantly higher in SCA patients compared to the controls (P = 0.001, P = 0.001, P = 0.05, P = 0.05 and P = 0.001, respectively). Serum total protein (TP) and ALB were significantly lower (P = 0.01 and P < 0.05, respectively) in SCA patients compared with the controls. The levels of TB, ALT, AST, ALP, and AST/ALT were significantly lower in SCA adults compared to SCA children, whereas TP and ALB were higher in SCA adults compared to the SCA children. There were significant negative correlations between age and each of TB, ALT, AST, ALP, and AST/ALT, and significant positive correlations between age and each of TP and ALB in SCA patients. There are mild LFTs derangements

  10. Renal disease in adult Nigerians with sickle cell anemia: A report of prevalence, clinical features and risk factors

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    R A Bolarinwa

    2012-01-01

    Full Text Available Renal abnormalities in adult Nigerians with sickle cell anemia (SCA have not been extensively studied. To determine the prevalence, pattern and the associated risk factors of renal disease, 72 subjects with SCA from two centers in the southwestern Nigeria were investigated. Socio-demographic data, body mass index and clinical findings were documented. The urine analysis, serum bio-chemistry, hemogram and renal factors attributable to SCA were determined. Presence of albuminuria of at least 1+ or microalbuminuria in those negative with dipstick; and the estimated glomerular filtration rate (eGFR using the Cockcroft-Gault formula categorized subjects to various stages of chronic kidney disease (CKD. Subjects with and without albuminuria were compared to determine the relative risk associated with renal disease. Four (5.6% subjects had macro-albuminuria, while 32 (44.4% had micro-albuminuria and 30 (41.7% had hemoglobinuria. In the subjects with albuminuria, age, hematocrit, systolic blood pressure, serum creatinine, urea and creatinine clearance were numerically higher while the eGFR was numerically lower. There was no significant difference in the clinical parameters studied in the two groups of subjects. The diastolic blood pressure was significantly higher in the albuminuric group. Based on eGFR, 22 (30.6% subjects had hyperfiltration (GFR > 140 mL/min/1.73 m2, of whom 36.4% had albuminuria, 18 (25.0% had stage 1 CKD, 30 (41.7% had stage 2 CKD and two (2.7% subjects had stage 3 CKD with albuminuria. None had stage 4 and 5 CKD. We conclude that renal abnormalities, importantly albuminuria, is common in adult Nigerians with SCA and the pattern and incidence are similar to those reported from other parts of the world. Regular blood pressure monitoring, early diagnosis and active intervention are advocated to delay progression to end-stage kidney disease in view of poor outcomes of renal replacement therapy in SCA patients with nephropathy.

  11. Sickle Cell Disease (For Parents)

    Science.gov (United States)

    ... Safe Videos for Educators Search English Español Sickle Cell Disease KidsHealth / For Parents / Sickle Cell Disease What's ... español Enfermedad de células falciformes What Is Sickle Cell Disease? Sickle cell disease is a condition in ...

  12. Sickle Cell Crisis (For Teens)

    Science.gov (United States)

    ... Safe Videos for Educators Search English Español Sickle Cell Crisis (Pain Crisis) KidsHealth / For Teens / Sickle Cell ... drepanocíticas (Crisis de dolor) What Is a Sickle Cell Crisis? Sickle cell disease changes the shape of ...

  13. Sonographic Screening for Abdominal Organ Involvement in Sickle Cell AnemiaA Step towards Better Patient Care

    OpenAIRE

    Bhushita B. Lakhkar; Bhushan N. Lakhkar; Bhavana B. Lakhkar

    2017-01-01

    Background: Sickle cell disease is characterized by repeated crisis and need for frequent transfusions. Abdominal crisis are common and potentially can damage any abdominal organ. Screening for organ involvement will lead to early detection and better patient care. Aim and Objectives: To see whether ultrasound can be a better noninvasive technique for early detection of organ involvement. Material and Methods: Prospective cross sectional observational study done on ...

  14. Estudio longitudinal de anticuerpos anticitoplasma de neutrófilos en pacientes con anemia drepanocítica Longitudinal study of antineutrophil cytoplasmic antibodies in patients with sickle cell anemia

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    Ana María Guerreiro Hernández

    2000-08-01

    Full Text Available Se realizó un estudio longitudinal para detectar anticuerpos anticitoplasma de neutrófilos (ANCA en 13 pacientes con anemia drepanocítica en crisis vasooclusiva y en estado basal, mediante un método de inmunofluorescencia indirecta. Del total de 34 muestras de suero obtenidas, 16 fueron en crisis vasooclusiva y en 12 de ellas, correspondientes a 10 pacientes, se demostró la presencia de p-ANCA. En el resto de las muestras en crisis vasooclusiva y en estado basal no se observó la presencia de p-ANCA o c-ANCA. Los resultados obtenidos sugieren la posible participación de los p-ANCA en el daño isquémico, así como la importancia de su medición en el diagnóstico de las crisis vasooclusivas (CVO en los pacientes con anemia drepanocítica (ADA longitudinal study was made to detect antineutrophil cytoplasmic antibodies (ANCA in 13 patients with sickle cell anemia in vasocclusive crisis and basal state by using an indirect immunofluorescence method. Of 34 serum samples, 16 were in vasocclusive crisis and 12 of them corresponding to 10 patients revealed the presence of p-ANCA. Neither p-ANCA nor c-ANCA was observed in the rest of the samples taken in vasoclussive crisis and in basal state. The results achieved signaled a possible involvement of p-ANCA in ischemic damage as well as the importance of their measurement in the diagnosis of vasocclusive crisis in patients with sickle cell anemia

  15. Factors Associated with Growth Retardation in Children Suffering from Sickle Cell Anemia: First Report from Central Africa

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    Aimé Lukusa Kazadi

    2017-01-01

    Full Text Available Background. The aim of this study was to investigate and determine the risk factors associated with poor growth among SCA children. Methods. A cross-sectional study was conducted in Kinshasa, the capital’s country. The nutritional status was assessed using the Z scores of the anthropometric indices. Results. We gathered data on the 256 patients, 138 females (53.9%, who entered the study. The mean age at presentation was 8.4 ± 4.9 years of age. Underweight, stunting, and wasting were found, respectively, in 47.7%, 10.5%, and 50.3% of SCA children. A history of hand-foot syndrome, more than 3 blood transfusions, being less than 12 months of age when receiving the first transfusion, more than two severe sickle crises per year, a medical history of severe infections, and the presence of hepatomegaly were associated with poor growth. When comparing sickle cell patients under 12 years of age (n=159 to a group of 296 age-matched children with normal Hb-AA, a significantly higher proportion of subjects with stunting and underweight were found among SCA. Conclusion. Nutritional status encountered in Congolese sickle cell children has been described for the first time in this study. A high prevalence of poor growth in SCA children was found in our study.

  16. Eficácia e toxicidade da hidroxiuréia em crianças com anemia falciforme Effectiveness and toxicity of hydroxyurea in children with sickle cell anemia

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    Michelle C. Silva

    2006-06-01

    Full Text Available A anemia falciforme é uma doença genética caracterizada pelo alto índice de morbimortalidade, considerada como a mais grave entre as doenças falciformes. As opções terapêuticas mais eficazes atualmente disponíveis para tratamento desta hemoglobinopatia são transplante de medula óssea (TMO e hidroxiuréia (HU. O TMO apesar de ser a medida curativa é considerado de alto risco por apresentar diversos graus de complicações e significativo nível de mortalidade. O uso de HU em crianças portadoras de anemia falciforme tem proporcionado redução de complicações clínicas e aumento significativo na expectativa de vida, por promover elevação dos níveis de hemoglobina fetal, da concentração de hemoglobina e do VCM, bem como redução da hemólise e de eventos vaso-oclusivos. Desse modo, a HU é considerada como melhor opção terapêutica atualmente disponível. Porém, por ser apontada como droga potencialmente carcinogênica, há questionamentos quanto aos benefícios e toxicidades quando utilizada por longo período. Este trabalho teve como proposta, avaliar por meio da revisão literária, os riscos, benefícios e efeitos adversos da hidroxiuréia em crianças.Sickle cell anemia is a genetic disease characterized by a high morbimortality rate, it is considered as the most serious among all sickle cell diseases. The most effective therapeutic options available nowadays for the treatment of this hemoglobinopathy are bone morrow transplantation (BMT and hydroxyurea (HU. BMT is considered a high risk procedure due to the different complications and significant mortality rates. The use of HU for children with sickle cell anemia has reduced the clinical complications and given a significant increase in life expectancy by augmenting the fetal hemoglobin levels and hemoglobin concentrations and reducing cytomegalovirus, as well as reducing hemolysis and vaso-occlusive events. Thus, HU is considered the best therapeutic option currently

  17. Men with Sickle Cell Anemia and Priapism Exhibit Increased Hemolytic Rate, Decreased Red Blood Cell Deformability and Increased Red Blood Cell Aggregate Strength.

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    Kizzy-Clara Cita

    Full Text Available To investigate the association between priapism in men with sickle cell anemia (SCA and hemorheological and hemolytical parameters.Fifty-eight men with SCA (median age: 38 years were included; 28 who had experienced priapism at least once during their life (priapism group and 30 who never experienced this complication (control group. Twenty-two patients were treated with hydroxycarbamide, 11 in each group. All patients were at steady state at the time of inclusion. Hematological and biochemical parameters were obtained through routine procedures. The Laser-assisted Optical Rotational Cell Analyzer was used to measure red blood cell (RBC deformability at 30 Pa (ektacytometry and RBC aggregation properties (laser backscatter versus time. Blood viscosity was measured at a shear rate of 225 s-1 using a cone/plate viscometer. A principal component analysis was performed on 4 hemolytic markers (i.e., lactate dehydrogenase (LDH, aspartate aminotransferase (ASAT, total bilirubin (BIL levels and reticulocyte (RET percentage to calculate a hemolytic index.Compared to the control group, patients with priapism exhibited higher ASAT (p = 0.01, LDH (p = 0.03, RET (p = 0.03 levels and hemolytic indices (p = 0.02. Higher RBC aggregates strength (p = 0.01 and lower RBC deformability (p = 0.005 were observed in patients with priapism compared to controls. After removing the hydroxycarbamide-treated patients, RBC deformability (p = 0.01 and RBC aggregate strength (p = 0.03 were still different between the two groups, and patients with priapism exhibited significantly higher hemolytic indices (p = 0.01 than controls.Our results confirm that priapism in SCA is associated with higher hemolytic rates and show for the first time that this complication is also associated with higher RBC aggregate strength and lower RBC deformability.

  18. Cholelithiasis in a toddler with sickle cell disease.

    Science.gov (United States)

    Schinasi, Dana Aronson; Mistry, Rakesh D; Mistry, Rakesh

    2011-06-01

    Cholelithiasis is rarely seen in toddlers and school-aged children, even in the setting of sickle cell anemia. In addition to more common etiologies, such as gastroenteritis, constipation, and urinary tract infection, the differential diagnoses of acute abdominal pain in young children with sickle cell disease include vaso-occlusive pain crisis and splenic sequestration. We describe a case of a toddler with sickle cell disease initially presenting with abdominal pain who was found to have symptomatic cholelithiasis.

  19. Association of the SOD2 polymorphism (Val6Ala and SOD activity with vaso-occlusive crisis and acute splenic sequestration in children with sickle cell anemia

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    Isabela Cristina Cordeiro Farias

    2018-02-01

    Full Text Available The SOD2 polymorphism Val16Ala TàC influences the antioxidative response. This study investigated the association of the SOD2 polymorphism and superoxide dismutase (SOD activity with vaso-occlusive crisis (VOC and acute splenic sequestration (ASS in children with sickle cell anemia (SCA. One hundred ninety-five children aged 1-9 years old were analyzed. The TC and CC genotypes were associated with lower SOD activity compared with the TT genotype (p=0.0321; p=0.0253, respectively. Furthermore, TC/CC were more frequent in patients with VOC or ASS (p=0.0285; p=0.0090, respectively. These results suggest that the SOD2 polymorphism associated with low SOD activity could be involved in SCA physiopathology.

  20. Determination of βS haplotypes in patients with sickle-cell anemia in the state of Rio Grande do Norte, Brazil

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    Cynthia Hatsue Kitayama Cabral

    2011-01-01

    Full Text Available βS haplotypes were studied in 47 non-related patients with sickle-cell anemia from the state of Rio Grande do Norte, Brazil. Molecular analysis was conducted by PCR/RFLP using restriction endonucleases XmnI, HindIII, HincII and HinfI to analyze six polymorphic sites from the beta cluster. Twenty-seven patients (57.5% were identified with genotype CAR/CAR, 9 (19.1% CAR/BEN, 6 (12.8% CAR/CAM, 1 (2.1% BEN/BEN, 2 (4.3% CAR/Atp, 1 (2.1% BEN/Atp and 1 (2.1% with genotype Atp/Atp. The greater frequency of Cameroon haplotypes compared to other Brazilian states suggests the existence of a peculiarity of African origin in the state of Rio Grande do Norte.

  1. Population pharmacokinetics and pharmacodynamics of hydroxyurea in sickle cell anemia patients, a basis for optimizing the dosing regimen

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    Galactéros Frédéric

    2011-05-01

    Full Text Available Abstract Background Hydroxyurea (HU is the first approved pharmacological treatment of sickle cell anemia (SCA. The objectives of this study were to develop population pharmacokinetic(PK-pharmacodynamic(PD models for HU in order to characterize the exposure-efficacy relationships and their variability, compare two dosing regimens by simulations and develop some recommendations for monitoring the treatment. Methods The models were built using population modelling software NONMEM VII based on data from two clinical studies of SCA adult patients receiving 500-2000 mg of HU once daily. Fetal hemoglobin percentage (HbF% and mean corpuscular volume (MCV were used as biomarkers for response. A sequential modelling approach was applied. Models were evaluated using simulation-based techniques. Comparisons of two dosing regimens were performed by simulating 10000 patients in each arm during 12 months. Results The PK profiles were described by a bicompartmental model. The median (and interindividual coefficient of variation (CV of clearance was 11.6 L/h (30%, the central volume was 45.3 L (35%. PK steady-state was reached in about 35 days. For a given dosing regimen, HU exposure varied approximately fivefold among patients. The dynamics of HbF% and MCV were described by turnover models with inhibition of elimination of response. In the studied range of drug exposures, the effect of HU on HbF% was at its maximum (median Imax was 0.57, CV was 27%; the effect on MCV was close to its maximum, with median value of 0.14 and CV of 49%. Simulations showed that 95% of the steady-state levels of HbF% and MCV need 26 months and 3 months to be reached, respectively. The CV of the steady-state value of HbF% was about 7 times larger than that of MCV. Simulations with two different dosing regimens showed that continuous dosing led to a stronger HbF% increase in some patients. Conclusions The high variability of response to HU was related in part to pharmacokinetics and

  2. Sickle cell-induced ischemic colitis.

    Science.gov (United States)

    Stewart, Camille L; Ménard, Geraldine E

    2009-07-01

    Sickle cell-induced ischemic colitis is a rare yet potentially fatal complication of sickle cell anemia. Frequent pain crises with heavy analgesia may obscure and prolong this important diagnosis. Our patient was a 29-year-old female with sickle cell disease who was admitted with left lower quadrant abdominal pain. A diagnostic workup, including chemistries, complete blood count, blood cultures, chest x-ray, computerized tomography scanning, and colonoscopy, was performed to identify the etiology of her symptoms. This case highlights the importance of differentiating simple pain crisis from more serious and life-threatening ischemic bowel. A review of the literature compares this case to others reported and gives a method for diagnosing and treating this complication of sickle cell disease.

  3. CURRENT TRENDS IN THE MANAGEMENT OF SICKLE CELL ...

    African Journals Online (AJOL)

    drclement

    level as sickle cell disease. Sickle cell anemia is due to the substitution of thymine for adenine ..... and local instillation of vaso-active drugs, shunting ... oral pseudoephedrine at night as an attempt to ..... Management of Cancer. Pain. Clinical ...

  4. Myonecrosis in Sickle Cell Anemia—Overlooked and Underdiagnosed

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    Nishant Tageja

    2010-01-01

    Full Text Available Medical literature detailing muscular complications of sickle cell anemia is sparse and limited to a few case-reports. Features consistent with myositis and myonecrosis are often overlooked and patients are inadequately treated, leading to unforeseen complications. We report an interesting case of sickle cell myonecrosis and review the existing literature on this subject.

  5. Determinants of resting cerebral blood flow in sickle cell disease

    NARCIS (Netherlands)

    Bush, Adam M.; Borzage, Matthew T.; Choi, Soyoung; Václavů, Lena; Tamrazi, Benita; Nederveen, Aart J.; Coates, Thomas D.; Wood, John C.

    2016-01-01

    Stroke is common in children with sickle cell disease and results from an imbalance in oxygen supply and demand. Cerebral blood flow (CBF) is increased in patients with sickle cell disease to compensate for their anemia, but adequacy of their oxygen delivery has not been systematically demonstrated.

  6. Micronutrients as therapeutic tools in the management of sickle cell ...

    African Journals Online (AJOL)

    Sickle cell disease, malaria and diabetes are among the diseases plaguing a good population of the developing world and the cost implication for their management is very high. Sickle cell disease and malari have anemia as a common factor and immunological disturbances are also prevalent in these disease conditions.

  7. Physics and (patho)physiology in confined flows: from colloidal patterns to cytoplasmic rheology and sickle cell anemia

    Science.gov (United States)

    Mahadevan, L.

    2015-03-01

    I will discuss a few problems that involve the interaction of fluids and solids in confined spaces. (i) Jamming in pressure-driven suspension flows that show a transition from Stokes flows to Darcy flows as the solids start to lock, as in evaporative patterning in colloids (e.g. coffee stain formation) .(ii) Jamming and clogging of red blood cells, as in sickle-cell pathophysiology, with implications for other diseases that involve jamming. (iii) The mechanical response of crowded networks of filaments bathed in a fluid, as in the cytoskeleton, that can be described by poroelasticity theory. In each case, I will show how simple theories of multiphase flow and deformation can be used to explain a range of experimental observations, while failing to account for others, along with some thoughts on how to improve them.

  8. Acute splenic sequestration in a pregnant woman with homozygous sickle-cell anemia Sequestro esplênico agudo em uma mulher grávida com anemia falciforme homozigótica

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    Carolina Bastos Maia

    2013-04-01

    Full Text Available CONTEXT Homozygous (SS sickle-cell anemia complicated by acute splenic sequestration in adults is a rare event, and it has never been reported during pregnancy. CASE REPORT A 25-year-old woman with homozygous (SS sickle-cell disease was hospitalized at 32 weeks' of gestation presenting weakness, abdominal pain, fever and hemoglobin of 2.4 g/dl. Abnormal fetal heart rate was detected by means of cardiotocography, and 5 units of packed red cells were transfused. Cesarean was performed at 37 weeks. Both mother and baby were discharged in a good general condition. CONCLUSION This case report demonstrates the importance of immediate blood transfusion for treatment of fetal distress in cases of splenic sequestration during pregnancy. This treatment is essential for avoiding maternal and fetal complications. CONTEXTO Anemia falciforme homozigótica (SS complicada por sequestro esplênico agudo em adultos é evento raro, e nunca foi relatado durante a gravidez. RELATO DO CASO Uma mulher de 25 anos, portadora de doença falciforme homozigótica (SS, com 32 semanas de gestação, foi internada apresentando fraqueza, dor abdominal, febre e hemoglobina de 2,4 g/dl. Frequência cardíaca fetal anormal foi detectada pela cardiotocografia e a paciente recebeu 5 unidades de concentrado de hemácias. Cesariana foi realizada com 37 semanas. Mãe e filho receberam alta em bom estado geral. CONCLUSÃO Este relato de caso demonstra a importância da transfusão imediata para o tratamento de sofrimento fetal nos casos de sequestro esplênico durante a gestação. Este tratamento é imprescindível para se evitarem complicações maternas e fetais.

  9. Deficiências de micronutrientes em crianças e adolescentes com anemia falciforme: uma revisão sistemática Micronutrient deficiency in children and adolescents with sickle cell anemia: a systematic review

    Directory of Open Access Journals (Sweden)

    Pilar S. R. Mataratzis

    2010-01-01

    Full Text Available A anemia falciforme é a doença hemolítica crônica, de caráter hereditário mais comum no Brasil, sendo escassas as informações sobre o estado nutricional de micronutrientes em portadores dessa enfermidade no Brasil. Estudos internacionais vêm demonstrando correlação positiva entre deficiência de micronutrientes e evolução desfavorável da doença.O objetivo deste estudo foi realizar revisão sistemática sobre deficiência de micronutrientes em crianças e adolescentes com anemia falciforme.Foram selecionadas publicações nas bases científicas de dados Medline e Lilacs através do Pubmed e Scielo, disponíveis entre os anos de 1998 e 2008. Foram incluídas na análise as publicações realizadas com crianças e adolescentes portadores da forma homozigótica da doença (SS. A qualidade metodológica dos artigos foi avaliada segundo as recomendações de Strobe, sendo selecionados 11 estudos, sendo 2 transversais, 4 caso-controle e 5 de coorte, todos realizados nos Estados Unidos. A avaliação da concordância entre os avaliadores na classificação da qualidade dos artigos demonstrou ótima concordância (k = 1,00, com um total de 90,9% de trabalhos com classificação B. Para a maioria dos nutrientes estudados (vit. A, D, B6, folato, cálcio e zinco, observou-se estado nutricional desfavorável entre os portadores de anemia falciforme, à exceção do ferro e vitamina B12, cujos resultados revelaram baixo ou nenhum nível de inadequação, seja bioquímica ou dietética. Tal constatação reforça a necessidade do cuidado nutricional no manejo desses pacientes, garantindo qualidade de vida para os portadores da doença.Sickle cell anemia is a chronic hemolitic disease and very common in Brazil and there are few information about nutritional status of micronutrients in people with sickle cell anemia in this country. International studies have shown positive correlation between deficiency of micronutrients and worst evolution of

  10. Cytokine Expression in Homozygous Sickle Cell Anaemia

    Directory of Open Access Journals (Sweden)

    Nnodim Johnkennedy

    2015-01-01

    Full Text Available Background: Sickle cell anaemia is an inherited disease in which the red blood cells become rigid and sticky, and change from being disc-shaped to being crescent-shaped. The change in shape is due to the presence of an abnormal form of haemoglobin. This results in severe pain and damage to some organs. Aim and Objective: The study was carried out to determine the levels of cytokine in sickle cell anemia. Material and Methods: Thirty confirmed sickle cell patients in steady state (HbSS-SS and thirty persons with normal haemoglobin (HbAA as well as sixteen sickle cell disease in crises (HbSS-cr between the ages of 15 to 30 years were selected in this study. Cytokines including interleukin 1 beta (IL- 1β, interleukin 2 (IL- 2, interleukin (IL-6, tumour necrosis factor alpha (TNF-α, and interferon gamma (IFN- λ were measured by commercially available ELISA kits. Results: The results obtained showed that the levels of TNF-α and IL-6 in sickle cell anaemia patients in crisis were significantly elevated when compared with sickle cell in steady state (P<0.05. Similarly, the levels of IL-1β, IL-6, and IFN- λ were significantly increased in sickle cell anaemia stable state when compared to HbAA subjects (P<0.05. Conclusion: This may probably implies that cytokine imbalance is implicated in the pathogenesis of sickle cell crisis. Also, cytokines could be used as an inflammatory marker as well as related marker in disease severity and hence therapeutic intervention.

  11. Anemia Due to Excessive Bleeding

    Science.gov (United States)

    ... Hemolytic Anemia Hemoglobin C, S-C, and E Diseases Iron Deficiency Anemia Sickle Cell Disease Thalassemias Vitamin Deficiency Anemia (See ... Hemolytic Anemia Hemoglobin C, S-C, and E Diseases Iron Deficiency Anemia Sickle Cell Disease Thalassemias Vitamin Deficiency Anemia NOTE: ...

  12. A Unique Cause of Intestinal and Splenic Infarction in a Sickle Cell Trait Patient

    OpenAIRE

    Asfaw, Sofya H.; Falk, Gavin A.; Morris-Stiff, Gareth; Tuthill, Ralph J.; Moorman, Matthew L.; Samotowka, Michael A.

    2013-01-01

    Sickle-cell trait is a common genetic abnormality in the African American population. A sickle-cell crisis in a patient with sickle-cell trait is uncommon at best. Abdominal painful crises are typical of patients with sickle cell anemia. The treatment for an abdominal painful crisis is usually medical and rarely surgical. We present the case of a cocaine-induced sickle-cell crisis in a sickle-cell trait patient that resulted in splenic, intestinal, and cerebral infarctions and multisystem org...

  13. Sickle Cell Disease

    Science.gov (United States)

    ... days. Your body may have trouble making enough new cells to replace the ones that you lost. Because ... Indian backgrounds. What are the symptoms of sickle cell disease? People with ... the whites of the eyes (icterus) The effects of SCD vary from person ...

  14. High frequency of the CCR5delta32 variant among individuals from an admixed Brazilian population with sickle cell anemia

    Directory of Open Access Journals (Sweden)

    J.A.B. Chies

    2003-01-01

    Full Text Available Homozygous sickle cell disease (SCD has a wide spectrum of clinical manifestations. In Brazil, the main cause of death of individuals with SCD is recurrent infection. The CCR5delta32 allele, which confers relative resistance to macrophage-tropic HIV virus infection, probably has reached its frequency and world distribution due to other pathogens that target macrophage in European populations. In the present investigation a relatively higher prevalence (5.1% of the CCR5delta32 allele was identified, by PCR amplification using specific primers, in 79 SCD patients when compared to healthy controls (1.3% with the same ethnic background (Afro-Brazilians. Based on a hypothesis that considers SCD as a chronic inflammatory condition, and since the CCR5 chemokine receptor is involved in directing a Th1-type immune response, we suggest that a Th1/Th2 balance can influence the morbidity of SCD. If the presence of the null CCR5delta32 allele results in a reduction of the chronic inflammation state present in SCD patients, this could lead to differential survival of SCD individuals who are carriers of the CCR5delta32 allele. This differential survival could be due to the development of less severe infections and consequently reduced or less severe vaso-occlusive crises.

  15. Sickle Cell Disease

    Science.gov (United States)

    ... message, please visit this page: About CDC.gov . Learn Tips for Receiving Better Care in the Emergency Department in Our Fact ... related care in the United States. Read Supplement » VIDEO Sickle Cell Disease: When to Transfuse Learn about indications for blood transfusion in patients with ...

  16. Healthy Dental Pulp Oxygen Saturation Rates in Subjects with Homozygous Sickle Cell Anemia: A Cross-Sectional Study Nested in a Cohort.

    Science.gov (United States)

    Souza, Soraia de Fátima Carvalho; Thomaz, Erika Bárbara Abreu Fonseca; Costa, Cyrene Piazera Silva

    2017-12-01

    To compare the percentage of arterial oxygen saturation (SpO 2 ) in healthy teeth with confirmed pulp vitality between individuals with sickle cell anemia (HbSS) and normal hemoglobin A (HbAA). This is a cross-sectional study nested within a cohort. Samples (n = 2543) comprised teeth with intact crowns and pulp vitality confirmed by thermal sensitivity tests and no history of caries, periodontal disease, or dental trauma. A total of 728 teeth of 113 individuals with HbSS and 1815 teeth of 246 individuals with HbAA were evaluated. Data analysis was performed using the χ 2 and Mann-Whitney tests and Spearman correlation analysis (α = 0.05). The study groups were comparable in terms of age, race, and sex (P > .05). Subjects with HbSS exhibited lower median SpO 2 levels in the body and upper teeth, excluding canines, than subjects with HbAA (P  .05). Compared with individuals with HbAA, those with HbSS exhibited lower SpO 2 in maxillary teeth with confirmed pulp vitality, except in the canines. There was no correlation between SpO 2 levels of the body and dental pulp in individuals with HbSS or HbAA. Copyright © 2017 American Association of Endodontists. Published by Elsevier Inc. All rights reserved.

  17. The influence of socioeconomic status on the hemoglobin level and anthropometry of sickle cell anemia patients in steady state at the Lagos University Teaching Hospital.

    Science.gov (United States)

    Animasahun, B A; Temiye, E O; Ogunkunle, O O; Izuora, A N; Njokanma, O F

    2011-01-01

    Sickle cell anemia (SCA) has multisystemic manifestations and is associated with severe morbidity and high mortality. It commonly affects growth leading to wasting and stunting. This study aimed to determine the influence of socioeconomic status on the nutritional status using anthropometric measurements and steady-state hemoglobin, of children with homozygous SCA, aged 1 year to 10 years in steady state at the Lagos University Teaching Hospital. This is a cross-sectional study involving 100 children with SCA and 100 age-, sex-, and social class-matched controls that fulfilled the inclusion criteria. Social class was assessed using educational attainment and occupation of parents. Hemoglobin concentration was determined using the oxy-hemoglobin method. This study demonstrated a significantly lower mean weight and weight-for-height in the SCA patients than those of controls (P hemoglobin concentration were observed from social class 1 to 4; this was statistically significant in controls (P = 0.00) but not in subjects (P > 0.1). However, SCA patients had significantly lower values than controls in each of the social classes. Poor socioeconomic status has an adverse effect on the nutritional status and hemoglobin of SCA patients.

  18. High mortality among children with sickle cell anemia and overt stroke who discontinue blood transfusion after transition to an adult program.

    Science.gov (United States)

    McLaughlin, Joseph F; Ballas, Samir K

    2016-05-01

    Chronic blood transfusion is the standard of care in the management of overt stroke due to sickle cell anemia (SS) to prevent recurrence of stroke. The problem arises when children are transitioned to adult care where blood transfusion may be discontinued. The purpose of this study was to report the outcome of 22 patients with SS and overt stroke who were transitioned to our adult program between 1993 and 2009. Transitioned patients were kept on chronic blood transfusion they had as children. Blood bank data were performed and computerized according to FDA and AABB regulations. Records were kept prospectively. Blood counts and percent hemoglobin (Hb)S were obtained before and after transfusion. HbS was kept below 30% after transfusion. Metabolic profiles were obtained every 6 months or more often if needed. Statistical analysis was by the two-tailed t-test. Patients who were compliant with blood transfusion were rarely hospitalized for painful crises. Alloimmunization and iron overload were the major complications of blood transfusion. Eight patients who refused to be maintained on chronic blood transfusion or who were noncompliant died within 1 to 5 years after transition. Causes of death included stroke in two, sudden in three, and multiorgan failure in three. The overall rate of death after transition was 36% and the major cause was discontinuation of blood transfusion. Efforts must be made to maintain adequate chronic simple or exchange blood transfusion for children with SS and stroke after transition to adult care. © 2015 AABB.

  19. G6PD deficiency and absence of α-thalassemia increase the risk for cerebral vasculopathy in children with sickle cell anemia.

    Science.gov (United States)

    Joly, Philippe; Garnier, Nathalie; Kebaili, Kamila; Renoux, Céline; Dony, Arthur; Cheikh, Nathalie; Renard, Cécile; Ceraulo, Antony; Cuzzubbo, Daniela; Pondarré, Corinne; Martin, Cyril; Pialoux, Vincent; Francina, Alain; Bertrand, Yves; Connes, Philippe

    2016-04-01

    The aim of this study was to test the association between hematological/genetic factors and cerebral vasculopathy in children with sickle cell anemia (SCA). A group with cerebral vasculopathy (VASC) was composed of children who had stroke (n = 6), silent infarct (n = 11), or an abnormal transcranial Doppler (n = 5). Eighty-four patients had neither positive history of stroke or silent infarct, nor abnormal transcranial Doppler (NORM group). An intermediate group (COND; n = 15) was composed of SCA children with a conditional transcranial Doppler. Biological analyses were performed on samples obtained at steady state and before the beginning of any chronic treatment. The comparisons of the three groups demonstrated a protective effect of α-thalassemia against cerebral vasculopathy through its effects on hemoglobin and reticulocyte levels. Moreover, we observed higher frequency of G6PD deficiency in the VASC group compared with the other groups. Our study confirms the key role of α-thalassemia and G6PD status in the pathophysiology of cerebral vasculopathy in SCA children. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  20. Which side of the balance determines the frequency of vaso-occlusive crises in children with sickle cell anemia: Blood viscosity or microvascular dysfunction?

    Science.gov (United States)

    Charlot, Keyne; Romana, Marc; Moeckesch, Berenike; Jumet, Stéphane; Waltz, Xavier; Divialle-Doumdo, Lydia; Hardy-Dessources, Marie-Dominique; Petras, Marie; Tressières, Benoît; Tarer, Vanessa; Hue, Olivier; Etienne-Julan, Maryse; Antoine-Jonville, Sophie; Connes, Philippe

    2016-01-01

    Vascular resistance and tissue perfusion may be both affected by impaired vascular function and increased blood viscosity. Little is known about the effects of vascular function on the occurrence of painful vaso-occlusive crises (VOC) in children with sickle cell anemia (SCA). The aim of the present study was to determine which side of the balance (blood viscosity or vascular function) is the most deleterious in SCA and increases the risk for frequent hospitalized VOC. Microvascular function, microcirculatory oxygenation and blood viscosity were determined in a group of 22 SCA children/adolescents at steady state and a group of 13 healthy children/adolescents. Univariate analyses demonstrated blunted microvascular reactivity during local thermal heating test and decreased microcirculatory oxygenation in SCA children compared to controls. Multivariate analysis revealed that increased blood viscosity and decreased microcirculatory oxygenation were independent risk factors of frequent VOC in SCA. In contrast, the level of microvascular dysfunction does not predict VOC rate. In conclusion, increased blood viscosity is usually well supported in healthy individuals where vascular function is not impaired. However, in the context of SCA, microvascular function is impaired and any increase of blood viscosity or decrease in microcirculatory oxygenation would increase the risks for frequent VOC. Copyright © 2015 Elsevier Inc. All rights reserved.

  1. [Evaluation of the effectiveness of patient-controlled analgesia in children with sickle cell anemia from the perspective of healthcare professionals and parents].

    Science.gov (United States)

    Turaç, Ayşegül; Rumeli Atıcı, Şebnem

    2016-07-01

    This study evaluated the efficacy of patient-controlled analgesia (PCA) used by children with sickle cell anemia (SCA) based on the attitudes of parents and healthcare professionals. A total of 86 individuals were involved in the study: 54 parents of children with SCA who were receiving treatment and 32 healthcare providers (doctors, nurses). To evaluate the effectiveness of the PCA method, a questionnaire was prepared to determine the level of knowledge of the participants about the PCA method and their perception of its advantages and disadvantages. According to 65.6% (n=21) of the healthcare providers, PCA should be used during acute phase of pain. The great majority of the participants (93%; n=80) thought that pain was effectively controlled both during the day and at night. PCA reduced the fear of unavailability of analgesic drugs in 83.3% (n=45) of parents and in 87.5% (n=28) of healthcare providers. More parents (37%) reported a reduction in the fear of return of pain than healthcare providers (9.4%) (paddiction. Resolving machine alarms (48%; n=26) and the length of time required to refill the machine (48%; n=26) were reported as disadvantages of PCA method. In this study, parents and healthcare professionals found PCA to be effective in relieving pain in children with SCA; however, fears and biased knowledge of users about the analgesic drug are thought to inhibit reaching sufficient dosage. Educational courses for users about PCA and the drugs used may increase the effectiveness of PCA method.

  2. Frequency and origin of haplotypes associated with the beta-globin gene cluster in individuals with trait and sickle cell anemia in the Atlantic and Pacific coastal regions of Colombia.

    Science.gov (United States)

    Fong, Cristian; Lizarralde-Iragorri, María Alejandra; Rojas-Gallardo, Diana; Barreto, Guillermo

    2013-12-01

    Sickle cell anemia is a genetic disease with high prevalence in people of African descent. There are five typical haplotypes associated with this disease and the haplotypes associated with the beta-globin gene cluster have been used to establish the origin of African-descendant people in America. In this work, we determined the frequency and the origin of haplotypes associated with hemoglobin S in a sample of individuals with sickle cell anemia (HbSS) and sickle cell hemoglobin trait (HbAS) in coastal regions of Colombia. Blood samples from 71 HbAS and 79 HbSS individuals were obtained. Haplotypes were determined based on the presence of variable restriction sites within the β-globin gene cluster. On the Pacific coast of Colombia the most frequent haplotype was Benin, while on the Atlantic coast Bantu was marginally higher than Benin. Eight atypical haplotypes were observed on both coasts, being more diverse in the Atlantic than in the Pacific region. These results suggest a differential settlement of the coasts, dependent on where slaves were brought from, either from the Gulf of Guinea or from Angola, where the haplotype distributions are similar. Atypical haplotypes probably originated from point mutations that lost or gained a restriction site and/or by recombination events.

  3. [Sub capsular splenic hematoma in a sickle cell trait carrier. Case report].

    Science.gov (United States)

    Ugalde, Diego; Conte, Guillermo; Ugalde, Héctor; Figueroa, Gastón; Cuneo, Marianela; Muñoz, Macarena; Mayor, Javiera

    2011-09-01

    Drepanocytic anemia is an uncommon hereditary disease in Chile. The heterozygous state of drepanocytic anemia or "sickle trait" has a frequency of 8% among Afro-Americans. A small number of patients carrying hemoglobin S are homozygous, with clinical manifestations of hemolytic anemia and thrombotic disease. Sickle trait is usually asymptomatic. We report a 59-year-old male who presented an acute abdominal pain and dyspnea while staying at high altitude. Six days later, an angio CAT scan showed the presence of a subcapsular splenic hematoma that was managed conservatively. Sickle cell induction with sodium metabisulphite was positive. Hemoglobin electrophoresis confirmed the sickle trait.

  4. When Blood Cells Bend: Understanding Sickle Cell Disease

    Science.gov (United States)

    ... risk of having a child with sickle cell anemia and are planning to have children, ask your health care professional about genetic counseling. ... to manage pain. Make sure babies and young children get needed antibiotics and routine vaccinations to ... Nicholas NIH Office of Communications and ...

  5. Infartos cerebrales de repetición y anemia drepanocítica en un niño:: revisión de la literatura médica Repeated brain infarctions and sickle cell anemia in a child:: medical literature review

    Directory of Open Access Journals (Sweden)

    José Vargas Díaz

    2009-12-01

    Full Text Available Una de las complicaciones neurológicas más devastadoras de la anemia drepanocítica son los ictus, tanto isquémicos como hemorrágicos. El 11% de los pacientes con hemoglobina SS (HbSS tienen un ictus antes de los 20 años de edad. Se presenta el caso de un niño de 14 años, congolés, gravemente desnutrido, con anemia drepanocítica y antecedentes de ictus isquémicos de repetición, que fue atendido en la Clínica Internacional «Cira García». La resonancia magnética evidenció signos de infartos antiguos a diferentes niveles en ambos hemisferios y zonas de encefalomalacia. Este paciente muestra la evolución natural de las complicaciones cerebrovasculares de la anemia de células falciformes.Among the most devastating neurologic complications from sickle-cell anemia are the ischemic and hemorrhagic ictus. The 11% of patients with SS hemoglobin (HbSS has ictus before the twenties. This is the case of a child from the Congo aged 14 severely undernourished presenting with sickle-cell anemia and backgrounds of repeated ischemic ictus, seen in the "Cira García" International Clinic. Magnetic resonance showed signs of an old infarction at different levels of both hemispheres and encephalomalacia zones. This patient shows the natural course of the cerebrovascular complications of sickle-cell anemia.

  6. Adesão à antibioticoterapia profilática em crianças com anemia falciforme: um estudo prospectivo Compliance with antibiotic prophylaxis in children with sickle cell anemia: a prospective study

    Directory of Open Access Journals (Sweden)

    Enio Latini Bitarães

    2008-08-01

    Full Text Available OBJETIVO: Avaliar a adesão a antibiótico profilático em crianças com anemia falciforme. MÉTODOS: Estudo prospectivo de 108 crianças (idade entre 3 meses e 4,5 anos, 45% masculino seguidas por 15 meses no Hemocentro de Belo Horizonte. Avaliou-se a adesão por meio de três entrevistas com cuidadores, análise de prontuário médico e atividade antibacteriana em uma amostra de urina em 81 crianças. Os antibióticos foram dispensados gratuitamente. RESULTADOS: Penicilina foi usada em 106 casos (maioria via oral, e eritromicina, dois casos. O antibiótico foi detectado na urina de 56% das crianças; 48% dos cuidadores afirmaram nas entrevistas que nenhuma dose deixou de ser administrada; em 89% dos prontuários médicos, não se registrou falha de adesão. Considerando-se aderente a criança que não apresentasse falhas em nenhum ou em apenas um dos métodos, a taxa de adesão foi de 67%. O grau de concordância entre os três métodos para medir a adesão foi baixo. Não se demonstrou qualquer associação entre a taxa de adesão e o gênero, estado nutricional, renda familiar per capita, nível educacional dos cuidadores ou número de membros da família. CONCLUSÕES: A taxa de adesão à antibioticoterapia profilática foi baixa quando avaliada por meio de questionários e testes urinários, e superestimada quando avaliada pela consulta ao prontuário médico. A adesão deve ser preferencialmente avaliada por vários métodos, pois sua mensuração é complexa. Os resultados do presente estudo sugerem a necessidade de programas educacionais abrangentes para os profissionais de saúde, para as famílias e crianças portadoras de anemia falciforme.OBJECTIVE: To prospectively assess compliance with antibiotic prophylaxis among children with sickle cell anemia. METHODS: A total of 108 children (aged 3 months to 4½ years, 45% male were recruited from the Hematology Center in Belo Horizonte, Brazil, and followed up for 15 months. Data on

  7. Informação genética na mídia impressa: a anemia falciforme em questão Genetic information in the written media: sickle cell anemia at issue

    Directory of Open Access Journals (Sweden)

    Debora Diniz

    2006-12-01

    Full Text Available O artigo analisa o discurso da mídia sobre a anemia falciforme. O objetivo é conhecer e analisar o conteúdo das mensagens veiculadas pela mídia impressa sobre a anemia falciforme, doença genética mais prevalente no País. Foram analisadas todas as matérias publicadas sobre o tema da anemia falciforme, entre 1998 e 2002, nos jornais A Tarde (BA, 41 matérias e Folha de S. Paulo (SP, 25 matérias. Para a análise foram selecionadas quatro variáveis: a prevenção, a conscientização do risco, o aconselhamento genético e o recorte racial da doença. A análise das matérias identificou um forte apelo preventivo que acompanha as informações sobre anemia falciforme. O tema da prevenção em genética traz uma série de desafios éticos, em especial dada a impossibilidade legal de interrupção da gestação em casos de diagnóstico de anemia falciforme no feto, o que faz com que haja uma ênfase nos cuidados reprodutivos pré-concepção. No caso da anemia falciforme, a pesquisa mostra ainda que há um apelo no sentido de chamar as pessoas a identificar a doença e buscar atendimento especializado. Mas há também a ênfase na idéia de que as pessoas informadas podem contribuir para prevenir o avanço da doença. Mediar essa tênue fronteira entre prevenção e reconhecimento das liberdades individuais pode ser considerado um desafio não só para a saúde pública, mas também para os meios de comunicação.This article examines the strategies used by the media to approach and disseminate information about the most prevalent genetic disease in Brazil, sickle cell anemia. In this investigation we analyzed all articles on this matter published between 1998 and 2002 in two newspapers: A Tarde (State of Bahia, 41 articles and Folha de S. Paulo (State of São Paulo, 25 articles. We selected four variables: prevention, risk awareness, genetic counseling and the racial dimension of the disease. The results revealed that the national media were

  8. Acute pancreatitis during sickle cell vaso-occlusive painful crisis.

    Science.gov (United States)

    Ahmed, Shahid; Siddiqui, Anita K; Siddiqui, Rina K; Kimpo, Miriam; Russo, Linda; Mattana, Joseph

    2003-07-01

    Sickle cell disease is characterized by chronic hemolytic anemia and vaso-occlusive painful crisis. The vascular occlusion in sickle cell disease is a complex process and accounts for the majority of the clinical manifestations of the disease. Abdominal pain is an important component of vaso-occlusive painful crisis and may mimic diseases such as acute appendicitis and cholecystitis. Acute pancreatitis is rarely included as a cause of abdominal pain in patients with sickle cell disease. When it occurs it may result form biliary obstruction, but in other instances it might be a consequence of microvessel occlusion causing ischemia. In this series we describe four cases of acute pancreatitis in patients with sickle cell disease apparently due to microvascular occlusion and ischemic injury to the pancreas. All patients responded to conservative management. Acute pancreatitis should be considered in the differential diagnosis of abdominal pain in patients with sickle cell disease. Copyright 2003 Wiley-Liss, Inc.

  9. Sport participation in adolescents with sickle cell disease.

    Science.gov (United States)

    Al-Rimawi, Hala; Jallad, Samer

    2008-10-01

    Adolescents with blood diseases should be encouraged to participate in exercise. Physical activity helps to build stronger muscles, to give better support to the joints, and to improve the patient's overall health and fitness. It also improves emotional well being by improving self-esteem and providing social interaction. Sports and exercise in sickle cell anemia and sickle cell trait need special consideration. Young athletes with sickle cell disease are at high risk of dehydration, heat-related injury, exhaustion, painful episodes, and hip joint problems. Gradual acclimatization to heat, humidity and high altitude, slow conditioning over weeks and avoidance of dehydration are recommended for all adolescents with sickle cell disease to make their sport activity safe. Effort should be made to educate those with sickle cell disease that their condition is not a handicap and that they are fit to lead a normal life.

  10. Interplay between coagulation and vascular inflammation in sickle cell disease

    Science.gov (United States)

    Sparkenbaugh, Erica; Pawlinski, Rafal

    2013-01-01

    Sickle cell disease is the most common inherited hematologic disorder that leads to the irreversible damage of multiple organs. Although sickling of red blood cells and vaso-occlusion are central to the pathophysiology of sickle cell disease the importance of hemolytic anemia and vasculopathy has been recently recognized. Hypercoagulation state is another prominent feature of sickle cell disease and is mediated by activation of both intrinsic and extrinsic coagulation pathways. Growing evidence demonstrates that coagulation may not only contribute to the thrombotic complications, but also to vascular inflammation associated with this disease. This article summarizes the role of vascular inflammation and coagulation activation, discusses potential mechanisms responsible for activation of coagulation and reviews recent data demonstrating the crosstalk between coagulation and vascular inflammation in sickle cell disease. PMID:23593937

  11. Hematological profile of sickle cell disease from South Gujarat, India

    Directory of Open Access Journals (Sweden)

    Sanjeev Shyam Rao

    2012-05-01

    Full Text Available The aim of this study was to determine hematological profile of sickle cell disease (SCD from Surat, South Gujarat, India. This prospective cross-sectional study was conducted in the Department of Pediatrics and Sickle Cell Anemia Laboratory, Faculty of Pathology, Government Medical College, Surat, India, between July 2009 and December 2010. Patients included in this study were in their steady state for a long period of time without any symptoms related to SCD or other diseases which could affect the hematological parameters. Venous blood of all patients was collected in ethylenediaminetetraacetic acid and hematological indices were measured. Thirty-three subjects homozygous in all were studied for their hematological parameters for sickle cell anemia. Moderate to severe anemia, low mean cell volume and high foetal hemoglobin dominate the hematological profile of SCD children.

  12. Evaluation of Fe and Zn/Cu ratio in serum of patients with sickle cell anemia by total reflection X-ray fluorescence using synchrotron radiation

    International Nuclear Information System (INIS)

    Canellas, Catarine G.L.; Leitao, Roberta G.; Lopes, Ricardo T.; Bellido, Alfredo Victor B.; Anjos, Marcelino J.

    2011-01-01

    Sickle cell anemia (SCA) is a blood disorder that affects hemoglobin, the protein found in red blood cells that help carry oxygen throughout the body. In this work we have analyzed serum samples from patients with SCA by using total reflection X-ray fluorescence using synchrotron radiation (SRTXRF). The SRTXRF measurements were performed at the X-ray fluorescence beamline at Brazilian National Synchrotron Light Laboratory (LNLS), in Campinas, Sao Paulo using a polychromatic beam. We have studied forty-three patients aged 18-50 years old, suffering from SCA and Sixty healthy volunteers aged 18-60 years old. It was possible to determine the concentrations of the following elements: P, S, Cl, K, Ca, Fe, Cu, Zn, Br and Rb. Student's t-test was applied in order to check whether the two populations (CG x SCA) had the same mean values. It was observed that elemental concentration of P, Cl, K, Fe, Cu, Zn and Br differed significantly (α = 0.05) between groups of healthy subjects and SCA. The concentrations of K, Fe and Cu in the serum samples of patients with SCA were larger 15%, 120 % and 20 %, respectively, when compared with the CG. On the other hand, the concentrations of P (-20 %), Cl (-6 %), Zn (-25 %) and Br (-22 %) were smaller than the values determined for the control group. The serum level Cu/Zn ratio was significantly higher (60%) in the serum samples of patients with SCA group than the CG. So, the Cu/Zn ratio can be used as an adjuvant index in enhancement for diagnosis of SCA. There are evidences of an association among Fe, Cu, Zn and Cu/Zn in the SCA pathogenesis process. (author)

  13. Evaluation of Fe and Zn/Cu ratio in serum of patients with sickle cell anemia by total reflection X-ray fluorescence using synchrotron radiation

    Energy Technology Data Exchange (ETDEWEB)

    Canellas, Catarine G.L.; Leitao, Roberta G.; Lopes, Ricardo T., E-mail: catarine@lin.ufrj.b, E-mail: ricardo@lin.ufrj.b [Universidade Federal do Rio de Janeiro (PEN/COPPE/UFRJ), RJ (Brazil). Coordenacao dos Programas de Pos-Graduacao de Engenharia. Programa de Engenharia Nuclear. Lab. de Instrumentaco Nuclear; Carvalho, Silvia M.F., E-mail: silvia@hemorio.rj.gov.b [State Institute of Hematology Arthur de Siqueira Cavalcanti (HEMORIO), Rio de Janeiro, RJ (Brazil); Bellido, Alfredo Victor B., E-mail: alfredo@ien.gov.b [Federal Fluminense University (UFF), Niteroi, RJ (Brazil). Chemistry Inst.; Anjos, Marcelino J., E-mail: marcelin@lin.ufrj.b [State University of Rio de Janeiro (UERJ), RJ (Brazil). Physics Inst.

    2011-07-01

    Sickle cell anemia (SCA) is a blood disorder that affects hemoglobin, the protein found in red blood cells that help carry oxygen throughout the body. In this work we have analyzed serum samples from patients with SCA by using total reflection X-ray fluorescence using synchrotron radiation (SRTXRF). The SRTXRF measurements were performed at the X-ray fluorescence beamline at Brazilian National Synchrotron Light Laboratory (LNLS), in Campinas, Sao Paulo using a polychromatic beam. We have studied forty-three patients aged 18-50 years old, suffering from SCA and Sixty healthy volunteers aged 18-60 years old. It was possible to determine the concentrations of the following elements: P, S, Cl, K, Ca, Fe, Cu, Zn, Br and Rb. Student's t-test was applied in order to check whether the two populations (CG x SCA) had the same mean values. It was observed that elemental concentration of P, Cl, K, Fe, Cu, Zn and Br differed significantly ({alpha} = 0.05) between groups of healthy subjects and SCA. The concentrations of K, Fe and Cu in the serum samples of patients with SCA were larger 15%, 120 % and 20 %, respectively, when compared with the CG. On the other hand, the concentrations of P (-20 %), Cl (-6 %), Zn (-25 %) and Br (-22 %) were smaller than the values determined for the control group. The serum level Cu/Zn ratio was significantly higher (60%) in the serum samples of patients with SCA group than the CG. So, the Cu/Zn ratio can be used as an adjuvant index in enhancement for diagnosis of SCA. There are evidences of an association among Fe, Cu, Zn and Cu/Zn in the SCA pathogenesis process. (author)

  14. Evaluation of Fe and Zn/Cu ratio in serum of patients with sickle cell anemia by total reflection X-ray fluorescence using synchrotron radiation

    Energy Technology Data Exchange (ETDEWEB)

    Canellas, Catarine G.L.; Leitao, Roberta G; Lopes, Ricardo T., E-mail: catarine@lin.ufrj.b, E-mail: ricardo@lin.ufrj.b [Universidade Federal do Rio de Janeiro (PEN/COPPE/UFRJ), RJ (Brazil). Coordenacao dos Programas de Pos-Graduacao de Engenharia. Programa de Engenharia Nuclear. Lab. de Instrumentaco Nuclear; Carvalho, Silvia M.F., E-mail: silvia@hemorio.rj.gov.b [State Institute of Hematology Arthur de Siqueira Cavalcanti (HEMORIO), Rio de Janeiro, RJ (Brazil); Bellido, Alfredo Victor B., E-mail: alfredo@ien.gov.b [Federal Fluminense University (UFF), Niteroi, RJ (Brazil). Chemistry Inst.; Anjos, Marcelino J., E-mail: marcelin@lin.ufrj.b [State University of Rio de Janeiro (UERJ), RJ (Brazil). Physics Inst.

    2011-07-01

    Sickle cell anemia (SCA) is a blood disorder that affects hemoglobin, the protein found in red blood cells that help carry oxygen throughout the body. In this work we have analyzed serum samples from patients with SCA by using total reflection X-ray fluorescence using synchrotron radiation (SRTXRF). The SRTXRF measurements were performed at the X-ray fluorescence beamline at Brazilian National Synchrotron Light Laboratory (LNLS), in Campinas, Sao Paulo using a polychromatic beam. We have studied forty-three patients aged 18-50 years old, suffering from SCA and Sixty healthy volunteers aged 18-60 years old. It was possible to determine the concentrations of the following elements: P, S, Cl, K, Ca, Fe, Cu, Zn, Br and Rb. Student's t-test was applied in order to check whether the two populations (CG x SCA) had the same mean values. It was observed that elemental concentration of P, Cl, K, Fe, Cu, Zn and Br differed significantly ({alpha} = 0.05) between groups of healthy subjects and SCA. The concentrations of K, Fe and Cu in the serum samples of patients with SCA were larger 15%, 120 % and 20 %, respectively, when compared with the CG. On the other hand, the concentrations of P (-20 %), Cl (-6 %), Zn (-25 %) and Br (-22 %) were smaller than the values determined for the control group. The serum level Cu/Zn ratio was significantly higher (60%) in the serum samples of patients with SCA group than the CG. So, the Cu/Zn ratio can be used as an adjuvant index in enhancement for diagnosis of SCA. There are evidences of an association among Fe, Cu, Zn and Cu/Zn in the SCA pathogenesis process. (author)

  15. Case report 379: 'Ulcer osteoma' associated with sickle cell disease

    International Nuclear Information System (INIS)

    Wiggins, T.; Bohrer, S.P.

    1986-01-01

    In summary, a 32-year-old black man with homozygous sickle cell anemia has been presented. The patient developed bilateral ulcers of the leg which never completely healed. In one leg he demonstrated a focal, fusiform, periosteal reaction which probably in time would become incorporated into the cortex, resulting in the formation of an ulcer osteoma of the tibia associated with sickle cell disease. The ulcer osteoma has the same radiological appearance as the ulcer osteoma in individuals in Africa without sickle cell disease. (orig./SHA)

  16. ''Tower vertebra'': a new observation in sickle cell disease

    International Nuclear Information System (INIS)

    Marlow, T.J.; Brunson, C.Y.; Jackson, S.; Schabel, S.I.

    1998-01-01

    Background. Skeletal abnormalities are common in sickle cell anemia. Ischemia, infarction, and growth disturbance of the thoracic and lumbar vertebral bodies are among the most common abnormalities, and can suggest the diagnosis radiographically. Design and patients. We recently encountered two adult patients in whom vertebrae had grown abnormally in height adjacent to infarcted short vertebrae. We then reviewed the thoracic and lumbar spine radiographs of 54 more adult patients with sickle cell anemia. Results and conclusion. A total of eight patients (14%) displayed infarcted vertebrae with compensatory vertical growth of at least one adjacent vertebrae. These resemble the elongated vertebral bodies associated with other conditions. We can find no prior report of this finding in association with sickle cell anemia. (orig.)

  17. Educação para a genética em saúde pública: um estudo de caso sobre a anemia falciforme Genetics education in public health: a case study on sickle cell anaemia in Brazil

    Directory of Open Access Journals (Sweden)

    Debora Diniz

    2005-04-01

    Full Text Available A anemia falciforme é a doença genética de maior prevalência na população brasileira e comumente apontada como uma questão de saúde pública. O Brasil tem investido na elaboração de ações no campo da anemia falciforme, dentre as quais se encontram ações educativas. Este artigo analisa alguns dos impactos causados pelas informações contidas no folheto educativo Anemia falciforme: um problema nosso, do Ministério da Saúde. O objetivo foi descrever e analisar como, após a leitura do folheto, pessoas com diferentes níveis de escolaridade compreendem a distinção entre traço e a anemia falciforme e como mensuram o risco reprodutivo de casais com o traço falciforme. A coleta de dados foi realizada por meio de questionário aplicado com 1.007 pessoas, em 11 cidades brasileiras, no período de junho a setembro de 2003. Os dados revelam que: a educação formal é fator fundamental para compreensão do folheto; a confusão entre traço e anemia falciformes permanece apesar de o folheto destacar a diferença entre ambas; e o risco reprodutivo de nascimento de futuras crianças com anemia falciforme é sobrevalorizado. Os resultados apontam para a tensão entre estratégias de prevenção de doenças e de promoção da autonomia reprodutiva, uma característica da nova genética.The sickle cell anaemia is the genetic disease with the highest prevalence in Brazil and it is considered a public health matter. Brazil has proposed medical actions to control sickle cell anaemia. This paper analyses some impacts of the educative brochure Anemia falciforme: um problema nosso (Sickle Cell Anaemia: a collective question, edited by the Brazilian Health Ministry. The aim of this paper is to describe and analyse how, after reading the brochure, people with different levels of education understand the difference between trace and sickle cell anaemia, and how they measure the reproductive risk of couples with the trace. The gather of information

  18. Best practices for transfusion for patients with sickle cell disease

    OpenAIRE

    Ted Wun; Kathryn Hassell

    2010-01-01

    The beta-globin gene mutation in sickle cell anemia results in anemia and repeated bouts of vascular occlusion. The cumulative effect of these vasocclusive events is progressive damage to many organs including the kidneys, lungs, and brain. The transfusion of red blood cells (RBC) can ameliorate many of these complications, but can be associated with both acute and chronic complications, including iron overload. The objective of the Best Practices in Transfusion Medicine for Patients with S...

  19. Sickle erythrocytes inhibit human endothelial cell DNA synthesis

    International Nuclear Information System (INIS)

    Weinstein, R.; Zhou, M.A.; Bartlett-Pandite, A.; Wenc, K.

    1990-01-01

    Patients with sickle cell anemia experience severe vascular occlusive phenomena including acute pain crisis and cerebral infarction. Obstruction occurs at both the microvascular and the arterial level, and the clinical presentation of vascular events is heterogeneous, suggesting a complex etiology. Interaction between sickle erythrocytes and the endothelium may contribute to vascular occlusion due to alteration of endothelial function. To investigate this hypothesis, human vascular endothelial cells were overlaid with sickle or normal erythrocytes and stimulated to synthesize DNA. The erythrocytes were sedimented onto replicate monolayers by centrifugation for 10 minutes at 17 g to insure contact with the endothelial cells. Incorporation of 3H-thymidine into endothelial cell DNA was markedly inhibited during contact with sickle erythrocytes. This inhibitory effect was enhanced more than twofold when autologous sickle plasma was present during endothelial cell labeling. Normal erythrocytes, with or without autologous plasma, had a modest effect on endothelial cell DNA synthesis. When sickle erythrocytes in autologous sickle plasma were applied to endothelial monolayers for 1 minute, 10 minutes, or 1 hour and then removed, subsequent DNA synthesis by the endothelial cells was inhibited by 30% to 40%. Although adherence of sickle erythrocytes to the endothelial monolayers was observed under these experimental conditions, the effect of sickle erythrocytes on endothelial DNA synthesis occurred in the absence of significant adherence. Hence, human endothelial cell DNA synthesis is partially inhibited by contact with sickle erythrocytes. The inhibitory effect of sickle erythrocytes occurs during a brief (1 minute) contact with the endothelial monolayers, and persists for at least 6 hours of 3H-thymidine labeling

  20. Avascular necrosis in sickle cell (homozygous S) patients: Predictive ...

    African Journals Online (AJOL)

    ... with the development of AVN. Conclusion: In conclusion, patients with a raised steady state platelet count may have a higher tendency to develop AVN and may require closer orthopedic review and prophylactic intervention. Key words: Avascular necrosis, homozygous S, platelet count, sickle cell anemia, white cell count ...

  1. Best practices for transfusion for patients with sickle cell disease

    Science.gov (United States)

    Wun, Ted; Hassell, Kathryn

    2010-01-01

    The β-globin gene mutation in sickle cell anemia results in anemia and repeated bouts of vascular occlusion. The cumulative effect of these vasocclusive events is progressive damage to many organs including the kidneys, lungs, and brain. The transfusion of red blood cells (RBC) can ameliorate many of these complications, but can be associated with both acute and chronic complications, including iron overload. The objective of the Best Practices in Transfusion Medicine for Patients with Sickle Cell Disease (SCD) Conference was to review the available published evidence and clinical experience surrounding the use of RBC transfusions for sickle cell disease by a panel of experts. The expert panel developed explicit clinical guidelines for the use of RBC in SCD patients. The panel also made recommendations for further research. A set of guidelines were produced for dissemination to pertinent stakeholders. If implemented, these clinical pathways have the potential to optimize the use of red blood cell transfusions in SCD.

  2. O cotidiano das famílias de crianças e adolescentes portadores de anemia falciforme The day-to-day life of families with children and adolescents with sickle cell anemia

    Directory of Open Access Journals (Sweden)

    Tania M. R. Guimarães

    2009-02-01

    Full Text Available A anemia falciforme (AF é a doença mais comum entre as hemoglobinopatias, caracterizada por uma mutação genética que compromete as funções das hemácias, desencadeando crises de vaso-oclusão e predisposições às infecções. O objetivo deste trabalho foi analisar o cotidiano das famílias com filho portador de AF. Foi feito estudo descritivo, exploratório e qualitativo. O método utilizado foi a gravação de dez entrevistas semiestruturadas com os familiares de menores de 18 anos portadores de AF, atendidos em outubro de 2007 no Hemope. A seleção dos sujeitos foi residir e ter parentesco em primeiro grau do paciente. O critério de exclusão foi a criança apresentar risco de morte. O tamanho da amostra seguiu os critérios de saturação dos discursos de Mynaio.12 Na avaliação empregou-se a técnica de "Análise de Conteúdo" de Bardin.13 As falas obtidas foram transcritas integralmente e agrupadas de acordo com a semelhança, buscando os sentimentos relevantes que originaram códigos e temas: 1. Tema: Envolvimento da família (subtema: exclusividade da atenção; códigos: superproteção, abrindo mão de outros papéis, sobrecarga materna, aprendendo com a doença; 2. Tema: Impacto da doença (subtema: doença crônica afetando a família; códigos: não aceitação, temor da morte; 3. Tema: Enfrentando desafios (subtemas: redes de apoio, serviço de saúde; códigos: apoio espiritual, profissional e familiar; estrutura hospitalar. Verificamos dificuldades na aceitação da doença pela família e uma sobrecarga materna na realização dos cuidados. Os modelos assistenciais devem permitir que a família atue como coparticipante nos cuidados de forma a facilitar a adaptação do paciente à doença.Sickle cell anemic is a common disorder among hemoglobinopatias, characterized by a genetic mutation which affects the function of the red blood cells, causing episodes of vaso-occlusion and predisposing sufferers to infections. This

  3. Skeletal MR imaging in sickle cell disease

    International Nuclear Information System (INIS)

    Effmann, E.L.; Kinney, T.R.; Utz, J.A.; Merten, D.F.; Herfkens, R.J.

    1986-01-01

    The authors evaluated eight patients with sickle cell disease (mean age, 15.75 years; range 5-19 years) using MR imaging performed 24-72 hours after hospital admission for crisis. Coronal images of the lower extremities were obtained with a General Electric 1.5-T system and pulse sequences of TR/TE = 500/25 msec and 2,000/40, 80 msec. In three patients a mild decrease in signal intensity was seen on both T1- and T2-weighted images, probably secondary to marrow hyperplasia. In two patients a marked decrease in signal intensity was seen on both T1- and T2-weighted images, probably secondary to the diamagnetic effects of marrow iron. Six patients had bone infarct(s) which appeared as well-defined areas with prolonged T2 relaxation times. MR imaging appears promising for the evaluation of bone marrow in sickle cell anemia

  4. Complicações neurológicas em anemia falciforme: avaliação neuropsicológica do desenvolvimento com o NEPSY Neurological complications in sickle cell anemia: a developmental neuropsychological assessment using NEPSY

    Directory of Open Access Journals (Sweden)

    Samantha Nunest

    2010-01-01

    Full Text Available Estudo de caso de duas crianças portadoras de anemia falciforme, com complicações neurológicas. Utilizou-se uma ampla bateria neuropsicológica - NEPSY. Uma criança apresentou acidente vascular cerebral com paresia de hemicorpo esquerdo, e a outra, ataque isquêmico transitório. As avaliações neuropsicológicas demonstraram que havia extenso prejuízo cognitivo no primeiro caso, em contraste com comprometimento leve no segundo. Baixas pontuações nas funções de atenção visual, memória operacional, linguagem, flexibilidade cognitiva, habilidades sensório-motora, visoespacial e viso-construtiva. Rebaixamento intelectual e no desempenho acadêmico foram encontrados no paciente que sofreu o acidente isquêmico. A criança que foi acometida por ataque isquêmico transitório apresentou dispraxia motora e oromotora, diminuição da atenção visual e memória verbal. Estes achados corroboram com os dados encontrados na literatura e reforçam a relevância de conhecer a tipologia destas alterações para intervir precocemente na deficiência cognitiva, minimizando as repercussões no desenvolvimento cognitivo, acadêmico e psicossocial.This is a case study of two children with sickle cell anemia and neurological complications. An extensive series of neuropsychological tests - NEPSY was used in the evaluation of the children. One child had suffered an ischemic stroke with left hemiparesis and the other, transient ischemic attack. The neuropsychological assessment showed extensive cognitive damage in the first case, in contrast to mild impairment in the second. Low scores were found for tasks of visual attention, operational memory, language, cognitive flexibility and for sensory-motor, visuospatial and visuoconstructive skills. Low intellectual and academic performance was found in the patient who suffered ischemic stroke. The child who suffered transient ischemic attack showed motor and oromotor dyspraxia, and decreased visual attention

  5. Reação transfusional hiper-hemolítica em pacientes portadores de anemia falciforme: relato de dois casos Hyper-hemolytic transfusional reaction in sickle cell patients: two case reports

    Directory of Open Access Journals (Sweden)

    Cláudia C.S. Naufel

    2002-12-01

    Full Text Available O caráter crônico da anemia, nos pacientes portadores de anemia falciforme, associado à maior capacidade de liberação de oxigênio pela Hb S, faz com que sejam pouco sintomáticos em relação à anemia e não necessitem de forma rotineira de transfusão de hemácias. Contudo, na vigência de complicações agudas, a queda adicional da hemoglobina pode precipitar descompensação da função cardio-respiratória e colocar em risco a vida do paciente, tornando a transfusão de sangue um recurso terapêutico de grande importância. Em virtude da elevada freqüência de transfusões a que esses pacientes são submetidos, é de fundamental importância o conhecimento dos principais riscos e o diagnóstico adequado das complicações decorrentes da terapia transfusional. Uma forma atípica de reação transfusional, denominada reação transfusional hiperhemolítica, foi descrita recentemente em pacientes com anemia falciforme após transfusão de hemácias aparentemente compatíveis. (4,5,6,7 Nesta condição, transfusões ulteriores podem exacerbar o quadro hemolítico e colocar em risco a vida do paciente. Os mecanismos patofisiológicos exatos dessa entidade ainda não são bem conhecidos e o tratamento consiste na suspensão da transfusão, corticoterapia e/ou administração de imunoglobulina. O objetivo deste trabalho é apresentar o relato de dois casos de reação transfusional hiperhemolítica em pacientes portadores de anemia falciforme.The chronic character of sickle cell anemia associated with the greater capacity to liberate oxygen by the Hb S, results in patients exhibiting few symptoms in relation to the anemia and they do not require regular hemacias transfusions. Nevertheless, in the face of acute complications, the additional drop in hemoglobin can precipitate an imbalance in the cardio-respiratory function and put the life of the patient at risk, making blood transfusion therapy of utmost importance. In the light of the

  6. Hidroxiurea en el tratamiento de niños y adolescentes con depranocitosis Hydroxyurea in the treatment of children and adolescents with sickle cell anemia

    Directory of Open Access Journals (Sweden)

    Gretel González Gilart

    2012-06-01

    Full Text Available Se realizó un estudio de intervención terapéutica, a fin de determinar la mejoría clínica y de los resultados de laboratorio en 163 niños afectados por drepanocitosis y tratados con hidroxiurea, los cuales fueron atendidos en el Hospital Infantil Sur de Santiago de Cuba desde septiembre de 2009 hasta igual mes de 2010. Para ello se seleccionó una muestra intencional de 22 pacientes, teniendo en cuenta criterios de inclusión y exclusión, número de eventos clínicos, parámetros de laboratorio, transfusiones e ingresos al año con el uso del medicamento; meses después de iniciado el tratamiento, fueron comparados con los mismos indicadores. Al finalizar la investigación se constató que la hidroxiurea había aumentado los niveles de hemoglobina fetal y disminuido la aparición de eventos clínicos, entre los cuales se encontraban: crisis vasooclusivas y del sistema nervioso central, síndrome torácico agudo e infecciones.A study of therapeutic intervention was carried out, in order to determine the clinical improvement and laboratory results in 163 children affected by sickle cell anemia and who were treated with hydroxyurea, and who were assisted in the Southern Children Hospital in Santiago de Cuba from September, 2009 to the same month of 2010. For this, an intentional sample of 22 patients was selected, taking into account the inclusion and exclusion criteria, number of clinical events, laboratory parameters, transfusions and admissions in a year with the use of the medication. After some months of initiating the treatment, they were compared with the same indicators. When concluding the investigation it was verified that hydroxyurea had increased the fetal hemoglobin levels and decreased the occurrence of clinical events, among which there were: vasoocclusive and central nervous system crisis, acute thoracic syndrome and infections.

  7. A unique cause of intestinal and splenic infarction in a sickle cell trait patient.

    Science.gov (United States)

    Asfaw, Sofya H; Falk, Gavin A; Morris-Stiff, Gareth; Tuthill, Ralph J; Moorman, Matthew L; Samotowka, Michael A

    2013-01-01

    Sickle-cell trait is a common genetic abnormality in the African American population. A sickle-cell crisis in a patient with sickle-cell trait is uncommon at best. Abdominal painful crises are typical of patients with sickle cell anemia. The treatment for an abdominal painful crisis is usually medical and rarely surgical. We present the case of a cocaine-induced sickle-cell crisis in a sickle-cell trait patient that resulted in splenic, intestinal, and cerebral infarctions and multisystem organ failure necessitating a splenectomy, subtotal colectomy, and small bowel resection. This case highlights the diagnostic dilemma that abdominal pain can present in the sickle-cell population and illustrates the importance of recognizing the potential for traditionally medically managed illnesses to become surgical emergencies.

  8. A Unique Cause of Intestinal and Splenic Infarction in a Sickle Cell Trait Patient

    Directory of Open Access Journals (Sweden)

    Sofya H. Asfaw

    2013-01-01

    Full Text Available Sickle-cell trait is a common genetic abnormality in the African American population. A sickle-cell crisis in a patient with sickle-cell trait is uncommon at best. Abdominal painful crises are typical of patients with sickle cell anemia. The treatment for an abdominal painful crisis is usually medical and rarely surgical. We present the case of a cocaine-induced sickle-cell crisis in a sickle-cell trait patient that resulted in splenic, intestinal, and cerebral infarctions and multisystem organ failure necessitating a splenectomy, subtotal colectomy, and small bowel resection. This case highlights the diagnostic dilemma that abdominal pain can present in the sickle-cell population and illustrates the importance of recognizing the potential for traditionally medically managed illnesses to become surgical emergencies.

  9. Importância da avaliação da hemoglobina fetal na clínica da anemia falciforme The importance of the evaluation of fetal hemoglobin in the clinical assessment of sickle cell disease

    Directory of Open Access Journals (Sweden)

    Rita de Cassia Mousinho-Ribeiro

    2008-04-01

    Full Text Available A anemia falciforme está entre as doenças genéticas mais comuns e mais estudadas em todo o mundo. Ela é causada por mutação no gene β, produzindo alteração estrutural na molécula da hemoglobina. As moléculas de HbS, decorrentes da mutação, sofrem processo de polimerização fisiologicamente provocado pela baixa tensão de oxigênio, acidose e desidratação. Com isso, os eritrócitos passam a apresentar a forma de foice, causando vaso-oclusão e outras conseqüências. O objetivo desse estudo foi revisar a importância da hemoglobina fetal na clínica de pacientes portadores de anemia falciforme. O significado clínico da associação da elevação da hemoglobina fetal na anemia falciforme mostra-se favorável em termos hematológicos, pois, nessa interação, as células-F têm baixas concentrações de HbS e, com isso, inibem a polimerização da HbS e a alteração da morfologia dos eritrócitos. O tratamento com hidroxiuréia, em função do aumento na expressão da hemoglobina fetal que este fármaco proporciona, traz aos pacientes falcêmicos uma melhora significativa em sua clínica. Portanto, a hemoglobina fetal consiste no maior inibidor da polimerização da desoxi-HbS e, com isso, evita a falcização do eritrócito, a anemia hemolítica crônica, as crises dolorosas vaso-oclusivas, o infarto e a necrose em diversos órgãos, melhorando a clínica e a expectativa de vida dos pacientes.Sickle cell disease is one of the commonest and most studied genetic diseases in the world. Caused by a mutation of the β gene, it changes the molecular structure of hemoglobin. Abnormal Hb S molecules suffer polymerization physiologically provoked by a low oxygen tension, acidosis and dehydration. As a result, red blood cells take on a sickle cell form, which causes microvascular occlusion with varying consequences. The objective of this study was to review the importance of fetal hemoglobin in the clinical assessment of sickle cell

  10. Outcome of cholelithiasis in Sudanese children with Sickle Cell ...

    African Journals Online (AJOL)

    EB

    Sickle cell disease (SCD) is the commonest inherited haemoglobinopathy. Its most common clinical manifestation is anemia due to chronic haemolysis. The occurrence of gallstones is one of the most important manifestations of SCD in the digestive tract1, 2, 3, 4, 5. Excessive production of bilirubin from chronic haemolysis ...

  11. Autopsy findings in sickle cell disease patients in Lagos State ...

    African Journals Online (AJOL)

    Autopsy findings in sickle cell disease patients in Lagos State University Teaching Hospital, Ikeja, Lagos, Nigeria. ... The study showed that the most common cause of sudden death was anemia-related (50%) while 21% were due to acute infections, 18.4 % were due to cardiovascular events and 4.6% were due to ...

  12. Sickle cell disease in Sierra Leone: a neglected problem | Roberts ...

    African Journals Online (AJOL)

    Eleven (2.4%) were Sickle Cell-HbC disease, median age 14 years. Patients demonstrated many of the typical features of SCD. The most common reason for hospital admission was bone pain crisis associated with an infection, followed by severe anemia. Aseptic necrosis of the femoral head, leg ulcers, septic osteomyelitis ...

  13. Liver Function In Patients With Homozygous Sickle Cell Disease ...

    African Journals Online (AJOL)

    Using the sensitive ELISA technique, 213 patients with sickle cell anemia (112 males and 101 females) aged 6 months to 18 years were screened for Hepatitis B infection using Hepatitis B surface antigen (HBsAg) and antibody to Hepatitis B core antigen. A biochemical evaluation of liver function was carried out on all ...

  14. Red cell alloimmunization in multi‑transfused patients with sickle cell ...

    African Journals Online (AJOL)

    Background: Sickle cell anemia (SCA) is an inherited hemoglobin disorder characterized by chronic anemia and occasional crises. Clinical features are variable. While some individuals are relatively stable and rarely require blood transfusion, others often require blood transfusion. Multiple blood transfusion is associated ...

  15. Structural analysis of the 5' flanking region of the β-globin gene in African sickle cell anemia patients: Further evidence for three origins of the sickle cell mutation in Africa

    International Nuclear Information System (INIS)

    Chebloune, Y.; Pagnier, J.; Trabuchet, G.; Faure, C.; Verdier, G.; Labie, D.; Nigon, V.

    1988-01-01

    Haplotype analysis of the β-globin gene cluster shows two regions of DNA characterized by nonrandom association of restriction site polymorphisms. These regions are separated by a variable segment containing the repeated sequences (ATTTT) n and (AT) x T y , which might be involved in recombinational events. Studies of haplotypes linked to the sickle cell gene in Africa provide strong argument for three origins of the mutation: Benin, Senegal, and the Central African Republic. The structure of the variable segment in the three African populations was studied by S1 nuclease mapping of genomic DNA, which allows a comparison of several samples. A 1080-base-pair DNA segment was sequenced for one sample from each population. S1 nuclease mapping confirmed the homogeneity of each population with regard to both (ATTTT) n and (AT) x T y repeats. The authors found three additional structures for (AT) x T y correlating with the geographic origin of the patients. Ten other nucleotide positions, 5' and 3' to the (AT) x T y copies, were found to be variable when compared to homologous sequences from human and monkey DNAs. These results allow us to propose an evolutionary scheme for the polymorphisms in the 5' flanking region of the β-globin gene. The results strongly support the hypothesis of three origins for the sickle mutation in Africa

  16. Computed tomography of the spleen and liver in sickle cell disease

    International Nuclear Information System (INIS)

    Magid, D.; Fishman, E.K.; Siegelman, S.S.

    1984-01-01

    The spleen was assessed in 10 patients with sickle cell disease studied with computed tomography (CT) for abdominal pain and/or unexplained fever. Patients with homozygous sickle cell anemia were found to have small, densely calcified spleens with occasional low-density infarcts. Five of six had hepatomegaly, and there was one case each of hepatic abscess, infarcts, and hemochromatosis. All patients with heterozygous sickle cell disease were found to have splenomegaly, with a variety of findings including acute hemorrhage, acute and chronic infarcts, rupture, and possible sequestration. It was concluded that CT is useful for evaluating the status of the spleen and liver in symptomatic patients with sickle cell disease

  17. Renal Replacement Therapy in End-Stage Sickle Cell Nephropathy: Presentation of Two Cases and Literature Review

    International Nuclear Information System (INIS)

    Al-Mueilo, Samir H.

    2005-01-01

    Chronic renal failure develops in 4-18% of patients with sickle cell anemia. Hemodialysis and kidney transplant are viable options in the management of end-stage renal disease in patients with sickle cell diseases (SCD). Information on kidney disease among Saudi patients with SCD is non-existing. In this report, the clinical course of two adult males with end-stage sickle cell nephropathy from Eastern Saudi Arabia is described. Literature on renal replacement therapy in sickle cell anemia (SCA) is discussed. (author)

  18. Body mass index and other anthropometric variables in children with sickle cell anaemia.

    Science.gov (United States)

    Odetunde, Odutola Israel; Chinawa, Josephat Maduabuchi; Achigbu, Kingsley Ihedioha; Achigbu, Eberechukwu O

    2016-01-01

    The objectives of this study were to determine the anthropometric variables of children with sickle cell anaemia and comparing it with those with normal haemoglobin genotype. A cross sectional study of anthropometric measurements was conducted over a period of six months. Children with sickle cell anaemia in steady state aged between 6-20 years were recruited. Nutritional assessment was done using anthropometrical variables. Data were analyzed using the Statistical Package for Social Sciences program (SPSS), version 20. The sickle cell patients comprised of 20 males and 20 females. There were an equal number of controls with an equal male to female ratio of 1:1. Forty eight percent (19) of the children with sickle cell anemia were underweight (sickle cell anemia were low when compared with children with normal Haemoglobin genotype.

  19. Qualidade de sono e função pulmonar em adolescentes portadores de anemia falciforme clinicamente estáveis Quality of sleep and pulmonary function in clinically stable adolescents with sickle cell anemia

    Directory of Open Access Journals (Sweden)

    Lisliê Capoulade Nogueira Arrais de Souza

    2007-06-01

    Full Text Available OBJETIVO: Avaliar a qualidade de sono e função pulmonar em adolescentes portadores de anemia falciforme (AF, clinicamente estáveis. MÉTODOS: Estudo trasversal descritivo de 50 pacientes portadores de AF submetidos a polissonografia noturna e espirometria no Hospital Universitário de Brasília. Analisamos dados antropométricos, polissonográficos e de função pulmonar. Dividimos os pacientes em dois grupos segundo a saturação periférica de oxigênio (SpO2 em sono com movimentos oculares rápidos (MOR: SpO2 93%. Realizamos estatística descritiva, teste t de Student, qui-quadrado e correlação de Pearson. RESULTADOS: A média de idade foi de 13,9 ± 2,5 anos. O tempo total de sono e percentagem do sono em MOR estavam diminuídos; dois pacientes (4% não apresentaram sono MOR. Latência de sono MOR, número de despertares, movimentação em sono, mudança de estágio, índice de distúrbios respiratórios e índice de apnéia obstrutiva estavam aumentados. Entre os dois grupos, houve diferenças estatisticamente significativas na maioria das variáveis polissonográficas. A SpO2 em sono MOR correlacionou-se de forma forte e positiva com a SpO2 em vigília, bem como com a SpO2 em sono não-MOR; e correlacionou-se de forma forte e negativa com a percentagem do tempo total de sono em que a SPO2 foi OBJECTIVE: To evaluate quality of sleep and pulmonary function in clinically stable adolescents with sickle cell anemia (SCA. METHODS: A cross-sectional descriptive study involving 50 patients with SCA submitted to nocturnal polysomnography and spirometry at the Brasília University Hospital. Anthropometric, polysomnographic and pulmonary function data were analyzed. Patients were divided into two groups according to oxygen saturation by pulse oximetry (SpO2 during rapid eye movement (REM sleep: SpO2 93%. Descriptive statistics, Student's t-test, chi-square test and Pearson's correlation coefficient were used. RESULTS: Mean age was 13.9 ± 2

  20. Regularidade de ciclos e padrão ovulatório em jovens portadoras de anemia falciforme Regularity of cycles and ovulatory pattern in young women with sickle cell anemia

    Directory of Open Access Journals (Sweden)

    José Wilson Viana Júnior

    2010-11-01

    Full Text Available OBJETIVO: avaliar as características do ciclo menstrual e identificar a ocorrência de ovulação em mulheres jovens nuligestas portadoras de anemia falciforme (AF. MÉTODOS: foi realizado um estudo de caso-controle, incluindo 26 mulheres nuligestas, durante a menacme, divididas em dois grupos: Grupo "Casos", contendo 13 portadoras de AF, e Grupo "Controle", com 13 mulheres saudáveis com mesmo intervalo desde a menarca. As características do ciclo menstrual foram informadas pelas participantes, que também foram submetidas a dosagens de progesterona sérica, curvas de temperatura basal e ecografias transabdominais em três ciclos consecutivos (total: 78 ciclos, com a finalidade de identificar a ocorrência de ovulação. Os resultados dos dois grupos foram comparados com o uso dos testes não paramétricos de Mann-Whitney ou Kruskal Wallis, sendo significativas as diferenças cujo valor p PURPOSE: to evaluate the characteristics of the menstrual cycle and to identify the occurrence of ovulation in nulliparous young women with sickle cell anemia (SCA. METHODS: we conducted a case-control study including 26 nulliparous women of reproductive age, divided into two groups: "cases", consisting of 13 women with SCA, and "Control" Group, consisting of 13 healthy women with the same interval since menarche. The characteristics of the menstrual cycle were reported by the participants, who were also submitted to measurements of serum progesterone, basal body temperature curves and transabdominal ultrasound in three consecutive cycles (total: 78 cycles in order to identify the occurrence of ovulation. The results were compared between groups using the nonparametric Mann-Whitney or Kruskal Wallis tests, and the differences were considered significant when p-value < 0.05. RESULTS: no significant difference was found in mean chronological age between the two groups (p = 0.2 in the pattern of the menstrual cycle when duration of flow (p = 0.4 and interval

  1. Anemia Falciforme: Um Problema Nosso. Uma abordagem bioética sobre a nova genética Sickle Cell Anaemia: A Brazilian Problem.A bioethical approach to the new genetics

    Directory of Open Access Journals (Sweden)

    Debora Diniz

    2003-12-01

    Full Text Available Este artigo analisa uma das ações educativas adotadas pelo Ministério da Saúde no campo das hemoglobinopatias: o folheto informativo Anemia Falciforme: Um Problema Nosso. O objetivo é discutir as premissas e os valores morais que se encontram associados a iniciativas no campo da educação genética, tendo as políticas públicas sobre anemia falciforme no Brasil como estudo de caso. A análise mostra que o conteúdo do folheto oscila entre políticas de prevenção para doenças e promoção de direitos fundamentais, uma característica da nova genética. Além disso, o excesso de informação biomédica especializada no folheto dificulta sua divulgação em massa. Os resultados encontrados foram discutidos à luz do debate bioético contemporâneo sobre a nova genética.This article analyzes one of the educational initiatives of the Brazilian Ministry of Health on hemoglobinopathies: the leaflet entitled Sickle Cell Anaemia: A Brazilian Problem. The purpose is to discuss the moral values associated with initiatives in genetics education, and the case study focuses on public policies related to sickle cell anaemia in Brazil. The analysis shows that the topics in the leaflets fluctuate between disease prevention policies and human rights protection, a basic characteristic of the new genetics. In addition, the leaflet’s excessive biomedical information hinders understanding by lay readers. The results are analyzed in the light of the contemporary bioethical debate on the new genetics.

  2. Alterações retinianas em jovens portadores de anemia falciforme (hemoglobinopatias em hospital universitário no nordeste do Brasil Retinal impairment in young individuals with sickle cell anemia (hemoglobin SS disease in university hospital in Northeastern of Brazil

    Directory of Open Access Journals (Sweden)

    Allisson Mário dos Santos

    2012-10-01

    Full Text Available OBJETIVOS: Descrever e classificar alterações retinianas encontradas em portadores de anemia falciforme com genótipo SS, bem com comparar métodos diagnósticos (mapeamento de retina e angiofluoresceinografia. MÉTODOS: Neste estudo transversal foram avaliados pacientes portadores de anemia falciforme com idade igual ou superior a sete anos. Esses pacientes foram submetidos a mapeamento de retina e angiofluoresceinografia. Os achados do mapeamento de retina foram agrupados em três classes: sem alterações; alterações não proliferativas e alterações proliferativas. Os resultados à angiofluoresceinografia foram classificados de acordo com os estágios de Goldberg, variando de I a V e expressando gradiente crescente de gravidade. RESULTADOS: Foram avaliados 61olhos de 31pacientes. A retinopatia falciforme foi encontrada em 38/61 (62,3% dos olhos examinados. A média de idade do grupo de portadores de retinopatia foi menor que dos pacientes sem retinopatia (14,4 versus 17,4 anos, p=0,04. Observou-se elevada freqüência de retinopatia não proliferativa, especialmente as tortuosidades vasculares (27,9%, seguidas por anastomoses arteriovenosas na periferia da retina (24,6% e oclusões arteriolares (8,2%. Em um olho foi observado neovascularização. Em 16,4% dos olhos obteve-se resultado normal no mapeamento de retina e alterado à angiofluoresceinografia. CONCLUSÕES: As alterações retinianas do tipo não proliferativa são frequentes e precoces nos portadores de anemia falciforme do tipo SS, sendo a angiofluoresceinografia mais sensível no diagnóstico quando comparada ao mapeamento de retina.PURPOSES: To describe and categorize retinal vascular changes in patients with sickle cell anemia, as well as to compare diagnostic methods (indirect ophthalmoscopy and fluorescein angiography. METHODS: Patients with sickle cell anemia over the age of seven were examined. Complete ophthalmologic examination with indirect ophthalmoscopy and

  3. Transcranial Doppler, MRA, and MRI as a screening examination for cerebrovascular disease in patients with sickle cell anemia: an 8-year study

    Energy Technology Data Exchange (ETDEWEB)

    Seibert, J.J.; Glasier, C.M.; Allison, J.W.; James, C.A.; Kinder, D.L.; Cox, K.S.; Lairry, F.; Graves, R.A. [Arkansas Children`s Hospital, Little Rock, AR (United States). Dept. of Radiology; Kirby, R.S.; Flick, E.L. [Center for Ambulatory Research, Univ. of Arkansas for Medical Sciences, Little Rock, AR (United States); Becton, D.L.; Jackson, F.J. [Dept. of Hematology, Univ. of Arkansas for Medical Sciences, Little Rock, AR (United States)

    1998-03-01

    Objective. The authors previously reported five transcranial Doppler ultrasonography (TCD) findings as significant in detecting clinical cerebrovascular disease in a 4-year study in patients with sickle cell disease. This is a follow-up to evaluate the validity of the original findings over another 4-year period during which the study population doubled. A clinical follow-up of the original asymptomatic sickle cell patients with positive TCD, MRA, and MRI was also made. Results. Of the 4 out of original 46 control patients in 1992 who had positive MRA and TCD, 3 have subsequently had clinical stroke. None of the 9 original patients with positive TCD and positive MRI but negative MRA have developed stroke. All five original TCD indicators of disease were still significant (P<0.05) for detecting clinical disease: maximum velocity in ophthalmic artery (OA)>35 cm/s, mean velocity in middle cerebral artery (MCA) >170 cm/s, resistive index (RI) in OA<50, velocity in OA greater than in MCA, and velocity in posterior cerebral (PCA), vertebral, or basilar arteries greater than in MCA. Four additional factors were also significant: turbulence, PCA or ACA without MCA, RI<30, and maximum velocity in MCA>200 cm/s. (orig.)

  4. Facts about Sickle Cell Disease

    Science.gov (United States)

    ... are important. You can call your local sickle cell organization to find out how to get tested. SCD ... a brother or sister. Bone marrow or stem cell transplants are used only in cases of severe SCD for children who have minimal organ damage from the ... Formats Help: How do I view different file formats (PDF, DOC, PPT, MPEG) on this site? Adobe PDF ...

  5. Hepatitis C virus in sickle cell disease.

    Science.gov (United States)

    Hassan, Mohamed; Hasan, Syed; Giday, Samuel; Alamgir, Laila; Banks, Alpha; Frederick, Winston; Smoot, Duane; Castro, Oswaldo

    2003-01-01

    PURPOSE: To determine the prevalence of hepatitis C virus antibodies (anti-HCV) in patients with sickle cell disease. PATIENTS AND METHODS: Between 1983 and 2001, 150 patients from the Howard University Hospital Center for Sickle Cell Disease were screened for HCV antibody (52% women, 48% men, mean age 34 years). Frozen serum samples from 56 adult sickle cell patients who had participated in previous surveys (1983-92) of HIV and HTLV-1 serology and who were tested in 1992 for anti-HCV antibody--when commercial ELISA test (Ortho) became available--were included in this paper. Of the 150 patients in the study, 132 had sickle cell anemia genotype (SS), 15 had sickle cell hemoglobin-C disease (SC) and three had sickle beta thalassemia. Clinical charts were reviewed for history of blood transfusion, IV drug abuse, homosexuality, tattooing, iron overload, and alcohol abuse. RESULTS: Antibodies to HCV were detected in 53 patients (35.3%). Of the 55 patients who had frozen serum samples tested in 1992, 32 (58%) were reactive for anti-HCV, while only 21 of the 95 patients (22%) tested after 1992 were positive for HCV antibodies (P<0.001). Thirty-nine of 77 patients (51%) who received more than 10 units of packed red blood cells were positive for HCV antibody, and only 14 of 61 patients (23%) who received less than 10 units of packed red blood cells transfusion were positive for HCV antibodies (P<0.001). None of the 12 patients who never received transfusion were positive for HCV antibody. In the 53 anti-HCV positive patients, the mean alanine amino-transferase (ALT) value was 98- and 81 U/L, respectively, for males and females. These values were normal for the HCV-antibody negative patients. The aspartate amino-transferase (AST) and the total bilirubin were also higher in the anti-HCV positive patients compared to patients in the anti-HCV negative group. Forty-four patients (57.1%) who were transfused more than 10 units developed iron overload defined by a serum ferritin

  6. Splenic uptake of both technetium-99m diphosphonate and technetium-99m sulfur colloid in sickle cell beta degrees thalassemia

    International Nuclear Information System (INIS)

    Heck, L.L.; Brittin, G.M.

    1989-01-01

    A 19-year-old black woman with sickle cell beta degrees thalassemia had experienced more than 100 hospital admissions for sickle cell crisis and aseptic necrosis of both femoral heads. Her spleen was enlarged threefold and accumulated both radiocolloid and bone-seeking agent on two occasions, demonstrating an exception to the rule in sickle cell anemia that spleens that take up bone-seeking agents demonstrate functional asplenia. In the context of fever, left upper quadrant pain, and splenomegaly, the pattern of calcification in the patient's spleen as revealed in ultrasound and CT studies suggested possible abscess and led to unnecessary splenectomy. The nuclear medicine studies did not support this diagnosis. Nuclear medicine physicians should not be misled by splenic findings of sickle cell thalassemia (and possibly of other heterozygous sickle cell disorders) that differ from those of the more familiar homozygous sickle cell anemia

  7. Treatment Of Sickle Cell Disease

    KAUST Repository

    Essack, Magbubah

    2014-12-04

    The present invention includes embodiments for treatment and/or prevention of sickle cell disease that employ Hydroxyfasudil or Isocoronarin D alone or either in conjunction with each other or an inducer of HbF production. The compounds may act synergistically, and the compounds employed circumvent the side effects seen with Hydroxyurea.

  8. Treatment Of Sickle Cell Disease

    KAUST Repository

    Essack, Magbubah; Bajic, Vladimir B.; Radovanovic, Aleksandar

    2014-01-01

    The present invention includes embodiments for treatment and/or prevention of sickle cell disease that employ Hydroxyfasudil or Isocoronarin D alone or either in conjunction with each other or an inducer of HbF production. The compounds may act synergistically, and the compounds employed circumvent the side effects seen with Hydroxyurea.

  9. Priapism in Sickle Cell Disease: A Hematologist’s Perspective

    Science.gov (United States)

    Kato, Gregory J.

    2011-01-01

    Introduction Priapism is a familiar problem to hematologists, well known for its association with sickle cell disease. It also occurs in a variety of other hematological illnesses, nearly all forms of congenital hemolytic anemia, including other hemoglobinopathies and red blood cell membranopathies and enzymopathies. Aim Provide urologists with a comprehensive review of priapism in sickle cell disease, with an emphasis on the perspective of a practicing hematologist. Methods Medline searches through July 2010 were conducted using the terms priapism, erectile dysfunction, and sickle cell. Main Outcome Measure Expert opinion was based on review of the medical literature related to this subject matter. Results In men with sickle cell disease, large epidemiological studies have linked the risk of priapism to clinical markers of the severity of intravascular hemolysis. Extracellular hemoglobin and arginase released during hemolysis has been implicated in reducing nitric oxide bioavailability, although the relevance of hemolysis to vascular dysfunction has been challenged by some scientists. Consistent with the role of impairment of the nitric oxide axis, mice genetically deficient in nitric oxide production have also been shown to develop priapic activity. Provocative new data indicates that hemolysis-linked dysregulation of adenosine signaling in the penis contributes to priapism in sickle cell mice. Serious questions have arisen regarding the efficacy of mainstays of textbook dogma for treatment of acute severe priapism, including intravenous fluids, alkalinization and exchange transfusion, and there is increasing acceptance for early aspiration and irrigation of the corpus cavernosum. Conclusions For sickle cell patients with recurrent priapism, there is very limited evidence for a medical prophylaxis role for hydroxyurea, etilefrine, pseudoephedrine, leuprolide, sildenafil, and other agents. Recent publications have highlighted nitric oxide and adenosine signal

  10. Sickle cell disease in childhood in Madina

    International Nuclear Information System (INIS)

    Hawasawi, Zakaria M.; Nabi, G.; Al-Magamci, M.S.F.; Awad, Khalid S.

    1998-01-01

    Sickle cell disease (SCD) is a common disease in Saudi Arabia, with ahigh prevalence in the Eastern and Southern regions. This study reports on 53cases of SCD encountered in the Madina area. In a retrospective study of 6000pediatric patients, 53 children (0.88%) with sickle cell disease wereadmitted in the Maternity and Children's Hospital Madina, between November1990 and October 1991. Of these, 39 patients (73.58%) were Saudis and 14(26.41%) were non-Saudis. Thirty-six patients were homozygous SS and 17 weresickle thalassemic. The main causes of admission were vaso-occlusive crisis(77.35%), infection (67.92%), acute chest syndrome (22.64%), anemia (12.6%)and cerebrovascular accident (9.43%). The lowest and highest age groupsrecorded in this study were six months and 12 years, respectively. About 70%of patients are still being followed-up, and none of the patients has died.This disease is one of the major causes of morbidity in this region of SaudiArabia. Measures required include neonatal screening programs for the earlydetection of the disease as well as research into new drugs to counter thedisease. (author)

  11. Tratamento da Osteonecrose da Cabeça Femoral com celulas progenitoras autólogas em anemia falciforme Femoral Head Necrosis treatment with autologous stem cells in sickle cell disease

    Directory of Open Access Journals (Sweden)

    Gildásio Cerqueira Daltro

    2008-01-01

    Full Text Available OBJETIVO: Avaliação da segurança e eficácia do uso de células progenitoras autólogas da medula óssea (CMMO no tratamento da Osteonecrose da Cabeça Femoral (OCF de pacientes portadores de anemia falciforme. MÉTODOS: Foram estudados 8 pacientes portadores de anemia falciforme, com OCF nos estágios I e II (classificação de Ficat e Arlet. As CMMO retiradas da crista ilíaca posterior foram concentradas e reinfundidas na área central da osteonecrose. Os principais parâmetros avaliados foram segurança, sintomas clínicos e progressão da doença, através da avaliação clínica (Harris Hip Score e radiológica. RESULTADOS: A maior parte dos pacientes (7 em 8 referiu melhora dos sintomas após o tratamento. Não houve complicações durante o procedimento anestésico e cirúrgico. A medida do escore (Harris Hip Score no pré-operatório foi 78,5 +/- 6,2 pontos, com aumento significativo destes valores no pós-operatório (98,3 +/- 2,5 pontos (pPURPOSE: To assess the efficacy and safety of autologous bone-marrow mononuclear cells (BMMC implantation in necrotic lesions of the femoral head in patients with sickle cell disease. METHODS: We studied eight patients with stage-I or -II femoral head osteonecrosis according to the system by Ficat and Arlet. BMMCs were harvested and re-infused into the necrotic zone. The primary endpoints studied were safety, clinical symptoms and disease progression, these being assessed according to the Harris hip score (HHS and to X-ray studies. RESULTS: After eight months, seven of the eight patients reported improvement from symptoms. There were no complications during anesthetic and surgery procedures. There was a significant postoperative increase in the HHS (98.3 +/- 2.5 points compared to preoperative HHS (78.5 +/- 6.2 points (p< 0.001. X-ray evaluation and cell parameters were found to be favorable. CONCLUSION: The autologous bone-marrow mononuclear cells implantation seems to be a safe and effective

  12. The post-mortem diagnosis of vasocclusive crisis in sickle cell disease

    Directory of Open Access Journals (Sweden)

    Varsha Bhatia

    2014-09-01

    Full Text Available Sickle cell disease (SCD comprises a group of genetic blood disorders that affect the hemoglobin molecular structure, and in some cases, the association with hemoglobin synthesis. In sickle cell anemia, the replacement of glutamic acid by valine at the 6th position on the beta chain from the N terminal results in the synthesis of the abnormal hemoglobin, called hemoglobin S (HbS.

  13. Ocorrência simultânea de síndrome de Evans e anemia falciforme em uma criança de 2 anos Simultaneous occurrence of Evans syndrome and sickle cell anemia in a 2 year-old child

    Directory of Open Access Journals (Sweden)

    Adriana Alexandre Brito

    2012-04-01

    Full Text Available A associação entre anemia falciforme (AF e síndrome de Evans (SE parece ser rara. Esse estudo objetivou relatar o caso de uma criança com AF e SE. A paciente R. M. S. S., 2 anos de idade, foi admitida em um centro hematológico apresentando hemorragia de mucosa, leucometria 20,3 × 10(9/l, hemoglobina 4,6 g/dl e plaquetas 28 × 10(9/l. Posteriormente, realizou-se mielograma, que evidenciou hipercelularidade eritroide, sugerindo hemólise. Teste positivo da antiglobulina direcionou o diagnóstico para SE. Iniciou-se pulsoterapia com corticoide até regularização da plaquetometria. Hemácias em foice foram visualizadas no esfregaço sanguíneo; eletroforese de hemoglobina revelou fenótipo SS. A associação parece ter sido fortuita e gerou quadro grave, que deve ser reconhecido prontamente.The association of sickle cell anemia (SCA and Evans syndrome (ES seems to be uncommon. This study aimed to report a case of a child with SCA and SE. 2 year-old R. M. S. S. was admitted into a hematologic center with mucosal bleedings. Exam results revealed leucocyte 20.3 × 10(9/l, hemoglobin 4.6 g/dl, and platelets 28 × 10(9/l. Subsequently, myelogram was performed and showed erythroid-hypercellularity, which suggested hemolysis. Positive antiglobulin test corroborated the diagnosis of ES. Corticosteroid pulse therapies were conducted until normalization of platelet count. Sickle cells were detected in blood smears and hemoglobin electrophoresis revealed SS phenotype. Despite the fact the association appears to occur randomly, it causes severe clinical symptoms, which must be promptly recognized.

  14. Red cell alloimmunization in multi‑transfused patients with sickle cell ...

    African Journals Online (AJOL)

    2014-12-09

    Dec 9, 2014 ... Key words: Alloimmunization, blood transfusion, sickle cell anemia ... of blood transfusion reaction and demographic variables were completed for each .... adverse effects associated with transfusion that can lead to serious short‑ and ... status in both blood donors and transfusion recipients has reduced the ...

  15. Imaging of sickle cell disease

    International Nuclear Information System (INIS)

    Crowley, J.J.; Sarnaik, S.

    1999-01-01

    Sickle cell disease is an important health care issue in the United States and in certain areas in Africa, the Middle East and India. Although a great deal of progress has been made in understanding the disease at the molecular and pathophysiologic level, specific treatment which is safe and accessible for most patients is still elusive. Going into the next millennium, the management of this disease is still largely dependent on early diagnosis and the treatment of complications with supportive care. Thus, diagnosis and evaluation of the complications of the disease are crucial in directing clinical care at the bedside. Modern imaging modalities have greatly improved, and their application in the patient with the sickling disorders has enhanced the decision - making process. The purpose of this article is to review the clinical aspects of common complications of the disease and to discuss imaging approaches which are useful in their evaluation. (orig.)

  16. Associação entre hipertrofia adenotonsilar, tonsilites e crises álgicas na anemia falciforme Association between adenotonsillar hypertrophy, tonsillitis and painful crises in sickle cell disease

    Directory of Open Access Journals (Sweden)

    Cristina Salles

    2009-06-01

    lgica no mesmo período; e não houve diferença quanto ao valor da hemoglobina anual média entre os que apresentaram e os que não apresentaram hipertrofia adenotonsilar obstrutiva.OBJECTIVES: To determine the prevalence of obstructive adenotonsillar hypertrophy in children and adolescents with sickle cell anemia; to investigate possible association between the presence of more than five episodes of tonsillitis in the last 12 months and episodes of painful crises in the same period; and to compare the mean annual hemoglobin level in children and adolescents with and without obstructive adenotonsillar hypertrophy. METHODS: Prospective, observational, cross-sectional study involving 85 children and adolescents with sickle cell anemia. All patients answered a questionnaire and underwent a standard otolaryngology examination, including endoscopic endonasal approach. The diagnosis of obstructive adenotonsillar hypertrophy was made according to the Brodsky scale. RESULTS: The prevalence of obstructive adenotonsillar hypertrophy was 55.3%. Obstructive adenotonsillar hypertrophy was associated with history of difficulty in eating (76.7 vs. 23.5%, p = 0.003, presence of more than five episodes of tonsillitis in the last 12 months (70.6 vs. 29.4%, p = 0.021, loud snoring (73.0 vs. 27.0%, p = 0.004, and sleep apnea (71.8 vs. 28.2%, p = 0.005. Patients with obstructive adenotonsillar hypertrophy had more episodes of recurrent upper airway tract infection (62.5 vs. 37.5; p = 0.010. The presence of more than five episodes of tonsillitis in the last 12 months was associated with episodes of painful crises (median = 12 vs. 2, p = 0.017. There was no significant difference between mean annual hemoglobin levels of patients with obstructive adenotonsilar hypertrophy vs. nonobstructive adenotonsillar hypertrophy: 7.6 vs. 8.2 g/dL, p = 0.199. CONCLUSION: The prevalence of obstructive adenotonsillar hypertrophy was 55.3% in children and adolescents with sickle cell anemia; the presence of

  17. Best practices for transfusion for patients with sickle cell disease

    Directory of Open Access Journals (Sweden)

    Ted Wun

    2010-01-01

    Full Text Available The beta-globin gene mutation in sickle cell anemia results in anemia and repeated bouts of vascular occlusion. The cumulative effect of these vasocclusive events is progressive damage to many organs including the kidneys, lungs, and brain. The transfusion of red blood cells (RBC can ameliorate many of these complications, but can be associated with both acute and chronic complications, including iron overload. The objective of the Best Practices in Transfusion Medicine for Patients with Sickle Cell Disease (SCD Conference was to review the available published evidence and clinical experience surrounding the use of RBC transfusions for sickle cell disease by a panel of experts. The expert panel developed explicit clinical guidelines for the use of RBC in SCD patients. The panel also made recommendations for further research.  A set of guidelines were produced for dissemination to pertinent stakeholders. If implemented, these clinical pathways have the potential to optimize the use of red blood cell transfusions in SCD.

  18. Assessing the Psychosocial Problems In Parenting Sickle-Cell ...

    African Journals Online (AJOL)

    Aim: To assess the psycho social problems encountered in parenting sickle-cell children in Enugu. Method: The subjects include all parents, guardian, foster parents of sickle cell children who have the responsibility of caring for sickle-cell children and who have attended the sickle-cell clinic of the UNTH between June to ...

  19. [Breastfeeding and the anthropometric profile of children with sickle cell anemia receiving follow-up in a newborn screening reference service].

    Science.gov (United States)

    Nogueira, Zeni Drubi; Boa-Sorte, Ney; Leite, Maria Efigênia de Queiroz; Kiya, Márcia Miyuki; Amorim, Tatiana; Fonseca, Silvana Fahel da

    2015-01-01

    To study breastfeeding history (BF) and the anthropometric status of children with Sickle Cell Disease (SCD). A cross-sectional study of 357 children with SS and SC hemoglobinopathies aged between 2 and 6 years old receiving regular follow-up at a Newborn Screening Reference Service (NSRS) between November 2007 and January 2009. The outcome was anthropometric status and the exposures were: BF pattern, type of hemoglobinopathy and child's age and sex. The average (SD) age was 3.7 (1.1) years, 52.9% were boys and 53.5% had SS hemoglobinopathy. The prevalence of exclusive breastfeeding (EBR) up to six months of age was 31.5%, the median EBR times (p25-p75) was 90.0 (24.0-180.0) days and the median weaning ages (p25-p75) was 360.0 (90.0-20.0) days respectively. Normal W/H children experienced EBR for an average duration almost four times longer than malnourished children (p=0.01), and were weaned later (p<0.05). Height deficit was found in 5.0% of children, while all the children with severe short stature had SS hemoglobinopathy and were over 4 years of age. EBR time and weaning age were greater than found in the literature, which is a possible effect of the multidisciplinary follow-up. Duration of EBR and later weaning were associated with improved anthropometric indicators. Copyright © 2014 Associação de Pediatria de São Paulo. Publicado por Elsevier Editora Ltda. All rights reserved.

  20. A Comprehensive, Ethnically Diverse Library of Sickle Cell Disease-Specific Induced Pluripotent Stem Cells

    Directory of Open Access Journals (Sweden)

    Seonmi Park

    2017-04-01

    Full Text Available Summary: Sickle cell anemia affects millions of people worldwide and is an emerging global health burden. As part of a large NIH-funded NextGen Consortium, we generated a diverse, comprehensive, and fully characterized library of sickle-cell-disease-specific induced pluripotent stem cells (iPSCs from patients of different ethnicities, β-globin gene (HBB haplotypes, and fetal hemoglobin (HbF levels. iPSCs stand to revolutionize the way we study human development, model disease, and perhaps eventually, treat patients. Here, we describe this unique resource for the study of sickle cell disease, including novel haplotype-specific polymorphisms that affect disease severity, as well as for the development of patient-specific therapeutics for this phenotypically diverse disorder. As a complement to this library, and as proof of principle for future cell- and gene-based therapies, we also designed and employed CRISPR/Cas gene editing tools to correct the sickle hemoglobin (HbS mutation. : In this resource article, Mostoslavsky, Murphy, and colleagues of the NextGen consortium describe a diverse, comprehensive, and characterized library of sickle cell disease-specific induced pluripotent stem cells (iPSCs from patients of different ethnicities, β-globin gene (HBB haplotypes and fetal hemoglobin (HbF levels. This bank is readily available and accessible to all investigators. Keywords: induced pluripotent stem cells, iPSCs, sickle cell disease, disease modeling, directed differentiation, gene correction

  1. Major sickle cell syndromes in children in Kenitra, Morocco

    Directory of Open Access Journals (Sweden)

    Khalid Hafiani

    2017-11-01

    Full Text Available Objective: To highlight the epidemiological characteristics and plot the current mapping of the sickle cell syndromes in children under 15 years old. Methods: A descriptive study was conducted on children with sickle cell disease over a period of 4 years (from January 2011 to December 2015 at the Pediatric Department at El Idrissi Regional Hospital Center in Kenitra, Morocco. Results: The mean age of patients was (8.56 ± 3.97 years and the age group 6–15 years was the most affected. The male gender was the most dominant with 60.94% of cases versus 30.06% for females. The homozygous form SS was the most frequently identified (81.25% of cases while the heterozygous form SC was rarely detected (2.08%. Conclusions: Sickle cell anemia remains a reality in Morocco and may not be perfectly understood yet by health professionals. A screening policy and a sustainable management program can prevent hemoglobinopathies in the studied region. An action plan must be implemented at national level to improve the quality of management of main sickle cell syndromes.

  2. Indigenous Traditional Medical Practitioners’ Lack of Formal Medical Education Impacts their Choices of Information Resources for the Treatment of Sickle Cell Anemia. A Review of: Olatokun, W. M., & Ajagbe, E. (2010. Analyzing traditional medical practitioners’ information-seeking behavior using Taylor’s information-use environment model. Journal of Librarianship and Information Science, 42, 122-135.

    Directory of Open Access Journals (Sweden)

    Maria C. Melssen

    2011-06-01

    Full Text Available Objective – To determine the information seeking behaviours of traditional medical practitioners who treat sickle cell anemia patients.Design – Qualitative, interviewer-administered, structured questionnaire.Setting – City and surrounding rural area of Ibadan, Nigeria.Subjects – The researchers selected for this study 160 indigenous traditional medical practitioners who specialize in the treatment of sickle cell anemia. The majority of the subjects were male, with 96 male and 64 female. The practitioners were selected from four traditional medical practitioner associations in Ibadan, Nigeria. The researchers met with the leaders of the four organizations and identified which of the 420 members specialize in the treatment of sickle cell anemia.Methods – The subjects were asked survey questions orally during face-to-face interviews. The decision to conduct interviews and ask the survey questions orally (rather than having the subjects complete the survey questions on their own was based on the perceived low literacy level of the traditional medical practitioners. Survey questions were written using the analytical framework of Taylor’s information use environment model. According to the authors, the premise of Taylor’s information use environment model is that individuals can be grouped according to their “professional and/or social characteristics” (p. 124. The group is then characterized by the members’ approach to problem solving: the type of problems they encounter, the setting they find themselves in during the problem, and how the group as a whole determines what course of action needs to be taken in order to solve the problem. The problem solving strategy of the group impacts its need for information and how that information is located and used.The questions asked by the researchers fell into one of five research areas:• the environment of the group• the diagnosis and treatment methods of traditional medical

  3. Sickle Cell Research: Symptoms, Diagnosis, Treatment and Recent Developments | NIH MedlinePlus the Magazine

    Science.gov (United States)

    ... cell disease should have regular checkups to detect eye damage. And a simple ultrasound test of the head can identify children at high risk for strokes. Recent Developments Research on bone marrow transplants, gene therapy, and new medicines for sickle cell anemia is ongoing. The hope is that these ...

  4. Peripheral Red Blood Cell Split Chimerism as a Consequence of Intramedullary Selective Apoptosis of Recipient Red Blood Cells in a Case of Sickle Cell Disease

    Directory of Open Access Journals (Sweden)

    Marco Marziali

    2014-08-01

    Full Text Available Allogeneic cellular gene therapy through hematopoietic stem cell transplantation is the only radical cure for congenital hemoglobinopathies like thalassemia and sickle cell anemia. Persistent mixed hematopoietic chimerism (PMC has been described in thalassemia and sickle cell anemia. Here, we describe the clinical course of a 6-year-old girl who had received bone marrow transplant for sickle cell anemia. After the transplant, the patient showed 36% donor hematopoietic stem cells in the bone marrow, whereas in the peripheral blood there was evidence of 80%  circulating donor red blood cells (RBC. The analysis of apoptosis at the Bone Marrow  level suggests that Fas might contribute to the cell death of host erythroid precursors. The increase in NK cells and the regulatory T cell population observed in this patient suggests that these cells might contribute to the condition of mixed chimerism.

  5. Sickle cell disease pain management in adolescents: a literature review.

    Science.gov (United States)

    Wilson, Bridget H; Nelson, Jessica

    2015-04-01

    Sickle cell disease (SCD) pain continues to emerge in adolescents. More than 98,000 individuals are believed to have SCD in the United States. In fact, 1 in 500 Black infants will be affected by SCD. Identifying standards of care for this unique population can improve pain management and treatment. A significant effect of vaso-occlusive crisis is a decrease in the quality of life in children. Therefore, pain management is multidimensional and includes pharmacologic, physical, and psychological strategies. A review of the literature was conducted to identify best practices regarding pain management in adolescents with sickle cell anemia. Key words such as pain, pain management, adolescent sickle cell anemia, and acute sickle cell pain were entered into databases to reveal qualitative and quantitative studies from 2009 to the present. Many of the research articles identified poor SCD pain management. Studies showed that acute SCD pain management is essential and should be evaluated and robustly managed to achieve optimum pain relief for patients. Acute SCD pain usually occurs as a result of vaso-occlusive crisis. Untreated acute SCD pain can result in morbidity and mortality in adolescents. Nursing knowledge is critical to reducing the stigma and improving management of SCD pain. Nurses play a vital role in the introduction of evidence-based practice within the clinical setting. In an effort to educate nurses and other health care professionals about SCD, this article is a literature review of studies concerning SCD and pain management in emergency rooms. Copyright © 2015 American Society for Pain Management Nursing. Published by Elsevier Inc. All rights reserved.

  6. Hematological differences between patients with different subtypes of sickle cell disease on hydroxyurea treatment

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    Fabia Neves

    2012-01-01

    Full Text Available OBJECTIVE: Sickle cell anemia and the interaction S/Beta thalassemia differ in hematological values due to microcytosis and hypochromia caused by the thalassemic mutation. The clinical benefit of long-term hydroxyurea treatment is undeniable in sickle cell disease with monitoring of the biological action of the drug being by the complete blood count. The objective of this work is to compare changes in some of the erythrocytic indexes between S/Beta thalassemia and sickle cell anemia patients on long-term hydroxyurea treatment. METHODS: The values of erythrocyte indexes (mean corpuscular volume and mean corpuscular hemoglobin were compared in a retrospective study of two groups of patients (Sickle cell anemia and S/Beta thalassemia on hydroxyurea treatment over a mean of six years. RESULTS: The quantitative values of the two parameters differed between the groups. Increases in mean corpuscular volume and reductions in mean corpuscular hemoglobin delay longer in S/Beta thalassemia patients (p-value = 0.018. CONCLUSION: Hematological changes are some of the beneficial effects of hydroxyurea in sickle cell disease as cellular hydration increases and the hemoglobin S concentration is reduced. The complete blood count is the best test to monitor changes, but the interpretation of the results in S/Beta thalassemia should be different.

  7. An unusual scintigraphic pattern in sickle cell patients

    International Nuclear Information System (INIS)

    Glaser, A.M.; Chen, D.C.P.; Siegel, M.E.; Norris, S.L.; Haywood, L.J.

    1989-01-01

    We reviewed the nuclear medicine files of all patients enrolled in the sickle cell disease clinic who had had scans performed within the previous 5 years. We specifically looked for patterns of tracer uptake in these scans that would correlate with the severe anemia and consequent bone marrow hyperactivity of sickle cell patients. Thirty-three patients were included (21 men and 12 women) with a mean age of 26.8 years (range 17-48 years). The appearance of each of these patients' most recent scans was examined in the areas of the distal femurs, the proximal tibias and the distal tibias; a distinct triangular shaped pattern of increased activity was identified in these areas in a majority of patients. Thirty-three patients without sickle cell disease served as age-matched controls. This pattern was seen in 65.1% (95 out of 146 images) of the sickle cell patients' delayed images and 80.4% (82 out of 102 images) of their blood pool images. In contrast, the control patients demonstrated the triangular pattern in none of their blood pool studies (0%) and only 10.9% of their delayed bone images (P<0.001). The mean age of sickle cell patients with this pattern is 25.6 years which was significantly lower than that of those without this pattern (mean=37.5 years, P<0.05). Given the high prevalence of this unique scintigraphic pattern in a group of patients with known accelerated bone marrow function, these findings may be scintigraphic evidence of bone marrow expansion. The patient's age appears to be an important factor in visualization of this pattern. (orig.)

  8. Morbiletalidad en pacientes adultos con drepanocitosis Morbimortality rates in adult patients with sickle cell disease

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    Sergio Machín García

    2004-08-01

    Full Text Available Se estudiaron 397 pacientes adultos con drepanocitosis, seguidos entre enero de 1973 y diciembre de 1997; 200 del sexo femenino y 197 del masculino. De estos, 305 con anemia drepanocítica, 63 con hemoglobinopatía SC y 29 con Sb talasemia. La mediana de seguimiento fue de 14,3 años. La media anual de ingresos y transfusiones fue menor en la hemoglobinopatía SC (pA study was performed on 397 adult patients with sickle cell anemia, who had been followed up from January 1973 to December 1997. Two hundred were females and 197 males; 305 of these patients presented with sickle cell anemia, 63 with SC hemoglobinopathy and 29 with Sb thalassemia. The mean follow-up period was 14,3 years. The yearly admission and blood transfusion mean was lower in SC hemoglobinopathy(p<0,001. Painful vasoocclusive crisis was more frequent in Sb thalassemia whereas infections often occurred in sickle cell anemia (p<0,001. One hundred four pregnancies were developed from 87 females. There were 4 maternal deaths and 10 perinatal deaths. Differences were found in hemoglobin and reticulocyte values among hemoglobinopathies (p<0,001 but no difference was seen between sexes or among age groups (18-29 y, 30-40 y and over 40 y. Fetal hemoglobin values did not show significant difference between sexes, although they were higher in sickle cell anemia. Global survival estimates were 53 years in sickle cell anemia, 59 years in SC hemoglobinopathy and 48 in Sb thalassemia (p< 0,05. The most frequent cases of death were hepatic complications, encephalic vascular attacks and infections

  9. Acompanhamento nutricional de criança portadora de anemia falciforme na Rede de Atenção Básica à Saúde Nutritional follow-up of children with sickle cell anemia treated in a Primary Care Unit

    Directory of Open Access Journals (Sweden)

    Karen Cordovil M. de Souza

    2008-12-01

    Full Text Available OBJETIVO: Relatar estudo de caso de atendimento nutricional a criança com diagnóstico de anemia falciforme. DESCRIÇÃO DO CASO: Realizaram-se quatro atendimentos nutricionais pela equipe do Internato de Nutrição da Universidade do Estado do Rio de Janeiro (Uerj no período de julho a setembro de 2005 a criança de 1 a 4 meses, feminina, negra, com anemia falciforme. Na avaliação do estado nutricional e do ganho de peso, empregaram-se os seguintes indicadores antropométricos: comprimento/idade, peso/idade e peso/comprimento, e um indicador de impacto nutricional. A análise dietética compreendeu a avaliação da ingestão energética e de macronutrientes observada na primeira consulta após 30 dias de intervenção. COMENTÁRIOS: Ao longo do período analisado, a baixa estatura para a idade (z=−1,32 evoluiu para adequação (z=0,87, enquanto o peso em relação ao comprimento manteve-se inadequado (z=−2,53. O ganho de peso foi 50% inferior ao incremento esperado. O consumo energético inicialmente inadequado (60% das recomendações alcançou, após 30 dias, 117%. A Estratégia em Saúde da Família vem sendo recomendada como importante ferramenta para monitorar as condições nutricionais, bem como para melhorar a atenção prestada. Entretanto, considerando o modelo de atenção primária local, observa-se haver necessidade de capacitação, especialmente no que tange às peculiaridades inerentes à condição de nutrição e de saúde dos portadores de anemia falciforme.OBJECTIVE: To report the nutritional follow-up of a black baby girl, one year and four months old, with homozygous sickle cell anemia. CASE DESCRIPTION: From July-September 2005, the infant attended four nutritional appointments at the Nutrition Internship Program from the State University of Rio de Janeiro, Rio de Janeiro, Brazil. The nutritional status was evaluated by the anthropometric indexes: length/age, weight/age and weight/length, and by one indicator of

  10. Cerebro vascular accident in sickle cell disease

    International Nuclear Information System (INIS)

    Alam, M.; Lodhi, M.A.; Khan, D.

    2003-01-01

    Sickle cell disease (SCD) is a common inherited hemoglobin disorder characterized by the presence of sickle shaped erythrocytes in the blood. It can cause stroke in around 10% of children. Repeated blood transfusions are often used in an attempt to dilute blood thus reducing the risk of vaso-occlusion and stroke. We report a case of an 11 years old girl, known patient of sickle cell disease, who did not follow regular blood transfusion protocol and as a result presented with recurrent stroke. (author)

  11. Gastrointestinal and hepatic complications of sickle cell disease.

    Science.gov (United States)

    Ebert, Ellen C; Nagar, Michael; Hagspiel, Klaus D

    2010-06-01

    Sickle cell disease (SCD) is an autosomal recessive abnormality of the beta-globin chain of hemoglobin (Hb), resulting in poorly deformable sickled cells that cause microvascular occlusion and hemolytic anemia. The spleen is almost always affected by SCD, with microinfarcts within the first 36 months of life resulting in splenic atrophy. Acute liver disorders causing right-sided abdominal pain include acute vaso-occlusive crisis, liver infarction, and acute hepatic crisis. Chronic liver disease might be due to hemosiderosis and hepatitis and possibly to SCD itself if small, clinically silent microvascular occlusions occur chronically. Black pigment gallstones caused by elevated bilirubin excretion are common. Their small size permits them to travel into the common bile duct but cause only low-grade obstruction, so hyperbilirubinemia rather than bile duct dilatation is typical. Whether cholecystectomy should be done in asymptomatic individuals is controversial. The most common laboratory abnormality is an elevation of unconjugated bilirubin level. Bilirubin and lactate dehydrogenase levels correlate with one another, suggesting that chronic hemolysis and ineffective erythropoiesis, rather than liver disease, are the sources of hyperbilirubinemia. Abdominal pain is very common in SCD and is usually due to sickling, which resolves with supportive care. Computed tomography scans might be ordered for severe or unremitting pain. The liver typically shows sickled erythrocytes and Kupffer cell enlargement acutely and hemosiderosis chronically. The safety of liver biopsies has been questioned, particularly during acute sickling crisis. Treatments include blood transfusions, exchange transfusions, iron-chelating agents, hydroxyurea, and allogeneic stem-cell transplantation. Copyright 2010 AGA Institute. Published by Elsevier Inc. All rights reserved.

  12. Sickle Cell Disease and Pulmonary Hypertension

    Science.gov (United States)

    ... My doctor wants to screen me for pulmonary hypertension. Why is this? Sickle cell disease (SCD), a ... What are some of the symptoms of pulmonary hypertension? Because they are somewhat general symptoms, the characteristics ...

  13. Sickle cell protection from malaria.

    Science.gov (United States)

    Eridani, Sandro

    2011-10-19

    A linkage between presence of Sickle Haemoglobin (HbS) and protection from malaria infection and clinical manifestations in certain areas was suspected from early observations and progressively elucidated by more recent studies. Research has confirmed the abovementioned connection, but also clarified how such protection may be abolished by coexistence of sickle cell trait (HbS trait) and alpha thalassemia, which may explain the relatively low incidence of HbS trait in the Mediterranean. The mechanisms of such protective effect are now being investigated: factors of genetic, molecular and immunological nature are prominent. As for genetic factors attention is given to the role of the red blood cell (RBC) membrane complement regulatory proteins as polymorphisms of these components seem to be associated with resistance to severe malaria; genetic ligands like the Duffy group blood antigen, necessary for erythrocytic invasion, and human protein CD36, a major receptor for P. falciparum-infected RBC's, are also under scrutiny: attention is focused also on plasmodium erythrocyte-binding antigens, which bind to RBC surface components. Genome-wide linkage and association studies are now carried out too, in order to identify genes associated with malaria resistance. Only a minor role is attributed to intravascular sickling, phagocytosis and haemolysis, while specific molecular mechanisms are the object of intensive research: among these a decisive role is played by a biochemical sequence, involving activation of haeme oxygenase (HMO-1), whose effect appears mediated by carbon monoxide (CO). A central role in protection from malaria is also played by immunological factors, which may stimulate antibody production to plasmodium antigens in the early years of life; the role of agents like pathogenic CD8 T-cells has been suggested while the effects of molecular actions on the immunity mechanism are presently investigated. It thus appears that protection from malaria can be

  14. Avoiding Anemia: Boost Your Red Blood Cells

    Science.gov (United States)

    ... Issues Subscribe January 2014 Print this issue Avoiding Anemia Boost Your Red Blood Cells En español Send ... Disease When Blood Cells Bend Wise Choices Preventing Anemia To prevent or treat iron-deficiency anemia: Eat ...

  15. Cerebrovascular reserve capacity is impaired in patients with sickle cell disease

    NARCIS (Netherlands)

    Nur, Erfan; Kim, Yu-Sok; Truijen, Jasper; van Beers, Eduard J.; Davis, Shyrin C. A. T.; Brandjes, Dees P.; Biemond, Bart J.; van Lieshout, Johannes J.

    2009-01-01

    Sickle cell disease (SCD) is associated with a high incidence of ischemic stroke. SCD is characterized by hemolytic anemia, resulting in reduced nitric oxide-bioavailability, and by impaired cerebrovascular hemodynamics. Cerebrovascular CO2 responsiveness is nitric oxide dependent and has been

  16. MANAGEMENT OF SICKLE CELL DISEASE

    Directory of Open Access Journals (Sweden)

    Rajesh

    2016-02-01

    Full Text Available Sickle cell disease (SCD is a genetically transmitted multisystem disease1 which includes a group of disorders that differs in severity sign and symptoms, The disease is not uniformly seen everywhere but it has some topographical distribution. In India, it is frequently seen in Central India, in and around the vicinity of Chhattisgarh in some religions in caste like kurmis, satnami, mahar, other backward caste and some tribes, it has great pathological significance considering the high morbidity and mortality resulting from the disease process. We have studied the cases of SCD from 2001 to 2015 series of such patients, since there is no cure of this disease, in regards to prevention of this genetic autosomal recessive disorder by marriage counseling, the incidence can be significantly reduced by avoiding consanguineous marriages in the susceptible community.

  17. Sickle cell, habitual dys-positions and fragile dispositions: young people with sickle cell at school

    Science.gov (United States)

    Dyson, Simon M; Atkin, Karl; Culley, Lorraine A; Dyson, Sue E; Evans, Hala

    2011-01-01

    The experiences of young people living with a sickle cell disorder in schools in England are reported through a thematic analysis of forty interviews, using Bourdieu’s notions of field, capital and habitus. Young people with sickle cell are found to be habitually dys-positioned between the demands of the clinic for health maintenance through self-care and the field of the school, with its emphases on routines, consistent attendance and contextual demands for active and passive pupil behaviour. The tactics or dispositions that young people living with sickle cell can then employ, during strategy and struggle at school, are therefore fragile: they work only contingently, transiently or have the unintended consequences of displacing other valued social relations. The dispositions of the young people with sickle cell are framed by other social struggles: innovations in school procedures merely address aspects of sickle cell in isolation and are not consolidated into comprehensive policies; mothers inform, liaise, negotiate and advocate in support of a child with sickle cell but with limited success. Reactions of teachers and peers to sickle cell have the enduring potential to drain the somatic, cultural and social capital of young people living with sickle cell. PMID:21375541

  18. Influence of plasmodium Falciparum malaria on sickle cell Vaso ...

    African Journals Online (AJOL)

    . Malaria infection is thought to influence the occurrence and severity of crisis in sickle cell patients. Objective To investigate the relationship between malaria infection and vasoocclusive crisis in sickle cell disease patients. Methods In order to ...

  19. HYDROXYCARBAMINE: FROM AN OLD DRUG USED IN MALIGNANT HEMOPATHIES TO A CURRENT STANDARD IN SICKLE CELL DISEASE

    Directory of Open Access Journals (Sweden)

    Giovanna Cannas

    2017-02-01

    Full Text Available While hydroxycarbamine (hydroxyurea, HU has less and less indications in malignant hemopathies, it represents the only widely used drug which modifies sickle cell disease pathogenesis. Clinical experience with HU for patients with sickle cell disease has been accumulated over the past 25 years in Western countries. The review of the literature provides increasing support of safety and efficacy in both children and adults for reducing acute vaso-occlusive events including pain episodes and acute chest syndrome. HU has become the standard-of-care for sickle cell anemia, but remains underused. Barriers to its use should be identified and overcome.

  20. Prevalence of glutathione S-transferase gene deletions and their effect on sickle cell patients

    Directory of Open Access Journals (Sweden)

    Pandey Sanjay

    2012-01-01

    Full Text Available BACKGROUND: Glutathione S-transferase gene deletions are known detoxification agents and cause oxidative damage. Due to the different pathophysiology of anemia in thalassemia and sickle cell disease, there are significant differences in the pathophysiology of iron overload and iron-related complications in these disorders. OBJECTIVE: The aim of this study was to estimate the frequency of the GSTM1 and GSTT1 genotypes in sickle cell disease patients and their effect on iron status. METHODS: Forty sickle cell anemia and sixty sickle ß-thalassemia patients and 100 controls were evaluated to determine the frequency of GST gene deletions. Complete blood counts were performed by an automated cell analyzer. Hemoglobin F, hemoglobin A, hemoglobin A2 and hemoglobin S were measured and diagnosis of patients was achieved by high performance liquid chromatography with DNA extraction by the phenol-chloroform method. The GST null genotype was determined using multiplex polymerase chain reaction and serum ferritin was measured using an ELISA kit. Statistical analysis was by EpiInfo and GraphPad statistics software. RESULTS: An increased frequency of the GSTT1 null genotype (p-value = 0.05 was seen in the patients. The mean serum ferritin level was higher in patients with the GST genotypes than in controls; this was statistically significant for all genotypes except GSTM1, however the higher levels of serum ferritin were due to blood transfusions in patients. CONCLUSION: GST deletions do not play a direct role in iron overload of sickle cell patients.

  1. Thrombotic thrombocytopenic purpura or immune thrombocytopenia in a sickle cell/β+-thalassemia patient: a rare and challenging condition.

    Science.gov (United States)

    Vlachaki, Efthymia; Agapidou, Aleka; Neokleous, Nikolaos; Adamidou, Despoina; Vetsiou, Evaggelia; Boura, Panagiota

    2014-10-01

    The diagnosis of thrombotic thrombocytopenic purpura is one of the possible diagnosis when a patient is admitted with unexpected micro-angiopathic hemolytic anemia and thrombocytopenia. The combination of sickle cell/β(+)-thalassemia and thrombotic thrombocytopenic purpura is rare and triggering. This article describes the poor outcome of a patient with sickle cell/β(+)-thalassemia presenting with gingival bleeding, severe thrombocytopenia and anemia. The patient had normal renal function, no neurological deficit and he was initially treated as immune thrombocytopenic purpura. He eventually died due to multi-organ failure and brain hemorrhage even though he had started plasma exchange sessions. The co-existence of thrombotic thrombocytopenic purpura and sickle cell anemia is making the diagnosis of the former difficult. Early and rapid intervention is critical to the outcome. Copyright © 2014 Elsevier Ltd. All rights reserved.

  2. SICKLE CELL DISEASE: REAPPRAISAL OF THE ROLE OF ...

    African Journals Online (AJOL)

    2015-06-01

    Jun 1, 2015 ... SUMMARY. Background: Foetal haemoglobin has been implicated in the modulation of sickle cell crisis. Its level is gener- ally inversely proportional to the severity of sickle cell disease (SCD) for a given sickle cell phenotypes. The main aim of therapy for vaso-occlusive crisis (VOC), which is the hallmark of ...

  3. Prevalence and pattern of sickle cell disease in premarital couples ...

    African Journals Online (AJOL)

    Context: Premarital haemoglobin screening is an important strategy for the control of Sickle Cell Disease. Aims: To determine the prevalence and pattern of sickle cell disease among premarital couples and to assess their attitude to the risk of sickle cell anaemia in their offspring. Settings and Design: A cross sectional ...

  4. Sobrecarga e quelação de ferro na anemia falciforme Iron overload and iron chelation in sickle cell disease

    Directory of Open Access Journals (Sweden)

    Rodolfo D. Cançado

    2007-09-01

    Full Text Available Pacientes cronicamente transfundidos desenvolvem sobrecarga de ferro que ocasiona lesão orgânica e morte. Nos últimos trinta anos, pacientes com sobrecarga de ferro transfusional dependem de infusões noturnas de desferroxamina para quelação de ferro. Apesar da dramática melhora da expectativa de vida na era da desferroxamina para pacientes com anemias dependentes de transfusão, 50% dos pacientes com talassemia maior morrem antes dos 30 anos de idade, predominantemente devido à insuficiência cardíaca induzida pelo ferro. A difícil natureza desse tratamento com infusão subcutânea prolongada por meio de aparelho infusor portátil motivou o desenvolvimento de formas alternativas de tratamento que facilitasse a aderência do paciente. Estratégias para reduzir a sobrecarga de ferro e suas conseqüências, através da melhora dos regimes de quelação, foram as prioridades mais importantes nos últimos anos. Nesta revisão, descrevemos os avanços mais importantes da terapia quelante de ferro. Em particular, analisamos os dois quelantes de ferro ativos por via oral: deferiprona e o novo quelante de ferro oral deferasirox.Patients who are chronically dependent on transfusions will develop iron overload that leads to organ damage and eventually to death. For nearly 30 years, patients with transfusional iron overload have been subject to overnight deferoxamine infusions for iron chelation. Despite dramatic gains in terms of life expectancy in the deferoxamine era for patients with transfusion-dependent anemias, 50% of patients with thalassemia major die before the age of 35 years, predominantly due to iron-induced heart failure. The very demanding nature of this treatment with prolonged subcutaneous infusion via portable pump infusions has been the motivation for attempts to develop alternative forms of treatment that would facilitate the patients' compliance. Strategies to reduce iron overload and its consequences by improving chelation

  5. Clinical, hematological, and molecular characterization of sickle cell anemia pediatric patients from two different cities in Brazil Caracterização clínica, hematológica e molecular de crianças portadoras da anemia falciforme em duas diferentes cidades do Brasil

    Directory of Open Access Journals (Sweden)

    Isa Menezes Lyra

    2005-08-01

    Full Text Available This study focused on clinical, hematological, and molecular aspects of sickle cell anemia pediatric patients from two different cites in Brazil. Seventy-one patients from São Paulo and Salvador, aged 3 to 18 years, were evaluated. Hematological analyses, betaS globin gene haplotypes, and alpha2 3.7kb-thalassemia were performed. Numbers of hospitalizations due to vaso-occlusive crises, infections, stroke, and cholelithiasis were investigated. São Paulo had more hospitalizations from vaso-occlusion, cholelithiasis, and stroke than Salvador. The Ben/CAR genotype predominated in both cities. alpha2 3.7kb-thalassemia had a frequency of 28.2% in Salvador, mostly with Ben/CAR genotype (45.0%, while São Paulo had 22.5% with similar frequencies of the Ben/ CAR and CAR/CAR genotypes. Sickle cell anemia patients from São Paulo also had more episodes of stroke, which was observed among CAR/CAR, atypical, and BEN/CAR haplotypes. In Salvador stroke was only observed in the Ben/CAR genotype. Cholelithiasis had similar frequencies in the two cities. These data suggest a milder phenotype among patients in Salvador, possibly due to genetic, environmental, and socioeconomic factors. Further studies are needed to elucidate modulating factors and phenotype association.O objetivo desse estudo foi avaliar aspectos clínicos, hematológicos e moleculares de pacientes pediátricos portadores de anemia falciforme em duas cidades brasileiras: Salvador e São Paulo. Foram estudados 71 pacientes com idades variando entre 3 a 18 anos, analisando-se os seguintes aspectos: perfis hematológicos, haplótipos dos genes da globina beta, presença de talassemia alfa-2(3.7kb, número de internações por vaso-oclusão, infecção, presença de acidente vascular cerebral e litíase biliar. O genótipo Ben/CAR predominou nas duas cidades. Talassemia alfa-2(3.7kb teve freqüência de 28,2% em Salvador e 22,5% em São Paulo. Os pacientes de São Paulo apresentaram um número maior

  6. The co-inheritance of alpha-thalassemia and sickle cell anemia is associated with better hematological indices and lower consultations rate in Cameroonian patients and could improve their survival.

    Directory of Open Access Journals (Sweden)

    Maryam Bibi Rumaney

    Full Text Available BACKGROUND: Co-inheritance of α-thalassemia was reported to be associated with a delayed age of disease onset among Cameroonian Sickle Cell Anemia (SCA patients. The present study aimed to explore the correlation between α-thalassemia, hematological indices, and clinical events in these patients. METHODS AND FINDINGS: We studied 161 Cameroonian SCA patients and 103 controls (59.1% HbAA with median ages of 17.5 and 23 years. RFLP-PCR was used to confirm SCA genotype and to describe haplotypes in the HBB-like genes cluster. Multiplex Gap-PCR was performed to investigate the 3.7 kb α-globin gene deletions. SNaPshot PCR, capillary electrophoresis and cycle sequencing were used for the genotyping of 10 SNPs in BCL11A, HMIP1/2, OR51B5/6 and HBG loci, known to influence HbF levels. Generalised linear regression models adjusted for age, sex and SNPs genotypes was used to investigate effects of α-thalassemia on clinical and hematological indices. The median rate of vaso-occlusive painful crisis and hospitalisations was two and one per year, respectively. Stroke was reported in eight cases (7.4%. Benin haplotype was the most prevalent (66.3%; n = 208 chromosomes. Among patients, 37.3% (n = 60 had at least one 3.7 kb deletion, compared to 10.9% (n = 6 among HbAA controls (p<0.001. Among patients, the median RBC count increased with the number of 3.7 kb deletions [2.6, 3.0 and 3.4 million/dl, with no, one and two deletions (p = 0.01]. The median MCV decreased with the number of 3.7 kb deletion [86, 80, and 68fl, with no, one and two deletions (p<0.0001], as well as median WBC counts [13.2, 10.5 and 9.8×109/L (p<0.0001. The co-inheritance of α-thalassemia was associated with lower consultations rate (p = 0.038. CONCLUSION: The co-inheritance of α-thalassemia and SCA is associated with improved hematological indices, and lower consultations rate in this group of patients. This could possibly improve their survival and explain the

  7. The Co-Inheritance of Alpha-Thalassemia and Sickle Cell Anemia Is Associated with Better Hematological Indices and Lower Consultations Rate in Cameroonian Patients and Could Improve Their Survival

    Science.gov (United States)

    Rumaney, Maryam Bibi; Ngo Bitoungui, Valentina Josiane; Vorster, Anna Alvera; Ramesar, Raj; Kengne, Andre Pascal; Ngogang, Jeanne; Wonkam, Ambroise

    2014-01-01

    Background Co-inheritance of α-thalassemia was reported to be associated with a delayed age of disease onset among Cameroonian Sickle Cell Anemia (SCA) patients. The present study aimed to explore the correlation between α-thalassemia, hematological indices, and clinical events in these patients. Methods and Findings We studied 161 Cameroonian SCA patients and 103 controls (59.1% HbAA) with median ages of 17.5 and 23 years. RFLP-PCR was used to confirm SCA genotype and to describe haplotypes in the HBB-like genes cluster. Multiplex Gap-PCR was performed to investigate the 3.7 kb α-globin gene deletions. SNaPshot PCR, capillary electrophoresis and cycle sequencing were used for the genotyping of 10 SNPs in BCL11A, HMIP1/2, OR51B5/6 and HBG loci, known to influence HbF levels. Generalised linear regression models adjusted for age, sex and SNPs genotypes was used to investigate effects of α-thalassemia on clinical and hematological indices. The median rate of vaso-occlusive painful crisis and hospitalisations was two and one per year, respectively. Stroke was reported in eight cases (7.4%). Benin haplotype was the most prevalent (66.3%; n = 208 chromosomes). Among patients, 37.3% (n = 60) had at least one 3.7 kb deletion, compared to 10.9% (n = 6) among HbAA controls (p<0.001). Among patients, the median RBC count increased with the number of 3.7 kb deletions [2.6, 3.0 and 3.4 million/dl, with no, one and two deletions (p = 0.01)]. The median MCV decreased with the number of 3.7 kb deletion [86, 80, and 68fl, with no, one and two deletions (p<0.0001)], as well as median WBC counts [13.2, 10.5 and 9.8×109/L (p<0.0001. The co-inheritance of α-thalassemia was associated with lower consultations rate (p = 0.038). Conclusion The co-inheritance of α-thalassemia and SCA is associated with improved hematological indices, and lower consultations rate in this group of patients. This could possibly improve their survival and explain the higher

  8. Measurements of magnetic anisotropy in sickle cells

    International Nuclear Information System (INIS)

    Salvo Souza, L.H. de.

    1982-03-01

    Room temperature magnetic measurements in deoxigenated sickle cells showed the existence of magnetic anisotropy, Δchi=1,29 x 10 -3 . This effect was supposed paramagnetic and considered to be due to the iron atoms of the hemoglobin molecules which are one over the other, forming ordered chains inside the erythrocytes. Low temperature (liquid He - 4,2K) measurements of the magnetic anisotropy of sickle cells and normal red blood cells diluted in a cryoprotector was made to confirm the paramagnetic origin of the fenomena. For that purpose it was used a superconductor magnetometer coupled to a SQUID, developed in the 'Laboratorio do Estado Solido do Departamento de Fisica da PUC-RJ'. The results obtained seem to confirm the expected paramagnetic anisotropy and, furthermore, suggest the presence of magnetic interactions among the iron atoms in the sickle cells samples. (Author) [pt

  9. Oxidative stress in sickle cell disease; pathophysiology and potential implications for disease management.

    Science.gov (United States)

    Nur, Erfan; Biemond, Bart J; Otten, Hans-Martin; Brandjes, Dees P; Schnog, John-John B

    2011-06-01

    Sickle cell disease (SCD) is a hemoglobinopathy characterized by hemolytic anemia, increased susceptibility to infections and vaso-occlusion leading to a reduced quality of life and life expectancy. Oxidative stress is an important feature of SCD and plays a significant role in the pathophysiology of hemolysis, vaso-occlusion and ensuing organ damage in sickle cell patients. Reactive oxygen species (ROS) and the (end-)products of their oxidative reactions are potential markers of disease severity and could be targets for antioxidant therapies. This review will summarize the role of ROS in SCD and their potential implication for SCD management. Copyright © 2011 Wiley-Liss, Inc.

  10. thirst perception in dehydrated sickle cell disease patients in steady

    African Journals Online (AJOL)

    Daniel Owu

    Ingram, 1956). It is prevalent especially among people with ancestry in ..... thalassemia and sickle polymerization tendency on the urine concentrating defect of individual with sickle cell trait. J. Clin. Invest., 88: 1963-. 1968. Igbokwe, VU. and Obika ...

  11. HEMATOPOIETIC STEM CELL TRANSPLANTATION IN THALASSEMIA AND SICKLE CELL DISEASE: EXPERIENCE OF MEDITERRANEAN INSTITUTE OF HEMATOLOGY IN A MULTI-ETHNIC POPULATION.

    Directory of Open Access Journals (Sweden)

    Marco Marziali

    2009-12-01

    Full Text Available Hematopoietic stem cell transplantation (HSCT still remains the only definitive cure currently available for patients with thalassemia and sickle cell anemia.  Results of transplant in thalassemia  and in sickle cell anemia  have steadily improved over the last two decades due to improvements in preventive strategies, and effective control of transplant-related complications. From 2004 through  2009,  145 consecutive patients with thalassemia and sickle cell anemia, ethnically heterogeneous from Mediterranean and Middle East countries, were given HSCT in the International Center for Transplantation in Thalassemia and Sickle Cella Anemia in Rome. This experience is characterized by two peculiarities: patients were ethnically very heterogeneous and the vast majority of these patients were not regularly transfesed/chelated and therefore were highly sensitized due to RBC transfusions without leukodepletion filters. Consequently, they could have a high risk of graft rejection as a result of sensitization to HLA antigens. The Rome experience of SCT in patients with thalassemia and sickle cell anemia confirmed the results obtained in Pesaro, and most importantly showed the reproducibility of these results in other centers.

  12. Ectodermal dysplasia associated with sickle cell disease.

    Science.gov (United States)

    Volpato, Luiz Evaristo Ricci; Volpato, Maria Carmen Palma Faria; de Carvalhosa, Artur Aburad; Palma, Vinicius Canavarros; Borges, Alvaro Henrique

    2014-01-01

    Ectodermal dysplasia and sickle cell anaemia are inherited disorders that affect, respectively, the tissues derived from the embryonic ectoderm and the production of erythrocytes by the bone marrow. The simultaneous occurrence of both disorders is extremely rare. This is a case of both ectodermal dysplasia and sickle cell anaemia reported in a 6-year-old. The patient had been diagnosed with sickle cell anaemia for only six months when he sought treatment presenting with the following: hypotrichosis, dry skin, periocular hyperpigmentation, protruding lips, hypodontia, and morphologically altered teeth. The clinical features combined with his medical history led to the diagnosis of ectodermal dysplasia. Dentists should be prepared to recognise patterns that escape normality to aid in the diagnosis of systemic changes, even in patients with other previous diagnoses.

  13. Ectodermal Dysplasia Associated with Sickle Cell Disease

    Directory of Open Access Journals (Sweden)

    Luiz Evaristo Ricci Volpato

    2014-01-01

    Full Text Available Ectodermal dysplasia and sickle cell anaemia are inherited disorders that affect, respectively, the tissues derived from the embryonic ectoderm and the production of erythrocytes by the bone marrow. The simultaneous occurrence of both disorders is extremely rare. This is a case of both ectodermal dysplasia and sickle cell anaemia reported in a 6-year-old. The patient had been diagnosed with sickle cell anaemia for only six months when he sought treatment presenting with the following: hypotrichosis, dry skin, periocular hyperpigmentation, protruding lips, hypodontia, and morphologically altered teeth. The clinical features combined with his medical history led to the diagnosis of ectodermal dysplasia. Dentists should be prepared to recognise patterns that escape normality to aid in the diagnosis of systemic changes, even in patients with other previous diagnoses.

  14. Key endothelial cell angiogenic mechanisms are stimulated by the circulating milieu in sickle cell disease and attenuated by hydroxyurea

    Science.gov (United States)

    Lopes, Flavia C. M.; Traina, Fabiola; Almeida, Camila B.; Leonardo, Flavia C.; Franco-Penteado, Carla F.; Garrido, Vanessa T.; Colella, Marina P.; Soares, Raquel; Olalla-Saad, Sara T.; Costa, Fernando F.; Conran, Nicola

    2015-01-01

    As hypoxia-induced inflammatory angiogenesis may contribute to the manifestations of sickle cell disease, we compared the angiogenic molecular profiles of plasma from sickle cell disease individuals and correlated these with in vitro endothelial cell-mediated angiogenesis-stimulating activity and in vivo neovascularization. Bioplex demonstrated that plasma from patients with steady-state sickle cell anemia contained elevated concentrations of pro-angiogenic factors (angiopoietin-1, basic fibroblast growth factor, vascular endothelial growth factor, vascular endothelial growth factor-D and placental growth factor) and displayed potent pro-angiogenic activity, significantly increasing endothelial cell proliferation, migration and capillary-like structure formation. In vivo neovascularization of Matrigel plugs was significantly greater in sickle cell disease mice than in non-sickle cell disease mice, consistent with an up-regulation of angiogenesis in the disease. In plasma from patients with hemoglobin SC disease without proliferative retinopathy, anti-angiogenic endostatin and thrombospondin-2 were significantly elevated. In contrast, plasma from hemoglobin SC individuals with proliferative retinopathy had a pro-angiogenic profile and more significant effects on endothelial cell proliferation and capillary formation than plasma from patients without retinopathy. Hydroxyurea therapy was associated with significant reductions in plasma angiogenic factors and inhibition of endothelial cell-mediated angiogenic mechanisms and neovascularization. Thus, individuals with sickle cell anemia or hemoglobin SC disease with retinopathy present a highly angiogenic circulating milieu, capable of stimulating key endothelial cell-mediated angiogenic mechanisms. Combination anti-angiogenic therapy to prevent the progression of unregulated neovascularization and associated manifestations in sickle cell disease, such as pulmonary hypertension, may be indicated; furthermore, the

  15. Lead toxicity masquerading as sickle cell crisis.

    Science.gov (United States)

    Nelson, M S; Chisolm, J J

    1986-06-01

    We recently saw a 12-year-old black boy with known sickle cell disease who had been seen many times for abdominal pain thought to be secondary to a vasoocclusive crisis. The patient eventually was admitted, after a seizure and the onset of obtundation. The etiology of his acute encephalopathy remained unclear until bone films of his knees fortuitously revealed "lead lines." The patient was treated and did well subsequently. This case emphasizes the importance of considering other diagnoses when a sickle cell patient presents with a crisis.

  16. [Results of hematopoietic stem cell transplantation in hemoglobinopathies: thalassemia major and sickle cell disease].

    Science.gov (United States)

    Hladun, R; Elorza, I; Olivé, T; Dapena, J L; Llort, A; Sánchez de Toledo, J; Díaz de Heredia, C

    2013-08-01

    The prevalence of hemoglobinopathies in Spain is increasing as a result of immigration. Thalassemia major presents with chronic hemolytic anemia that requires regular red blood cell transfusions within the first year of life. Patients with sickle cell disease suffer from chronic anemia, vasculopathy and progressive damage in almost any organ. There is decreased life expectancy in both conditions. Allogeneic hematopoietic stem cell transplantation represents the only potentially curative option. Seventeen patients (fourteen thalassemia major, and three sickle cell disease) underwent allogeneic hematopoietic stem cell transplantations. In the thalassemia group, nine donors were HLA-geno-identical siblings, two were partially matched related donors (one HLA allele mismatch), and three unrelated donors. All three patients with sickle cell disease were transplanted from HLA-geno-identical siblings. The source of stem cells was bone marrow in sixteen cases. Median patient age at transplant was six years (range: 1-16) in the thalassemia group, and twelve years (range: 8-15) in the sickle cell disease group. The graft was successful in all patients. Secondary graft rejection was observed in two thalassemia patients rendering them dependent on blood transfusions. Complete chimerism was observed in thirteen patients and, although mixed chimerism occurred in two, with all of them showing normal hemoglobin levels after transplantation and not requiring further transfusion support. Patients affected by sickle cell disease did not present with new vaso-occlusive crises, and stabilization of pulmonary and neurological function was observed. Chronic graft-versus-host disease was detected in three patients affected by thalassemia, and hypogonadotrophic hypogonadism in five patients. We conclude that for thalassemia major and sickle cell disease, allogenic hematopoietic stem cell transplantation from HLA-geno-identical siblings offers a high probability of complication-free survival

  17. Role of hydroxycarbamide in prevention of complications in patients with sickle cell disease

    Directory of Open Access Journals (Sweden)

    NM Wiles

    2009-09-01

    Full Text Available NM Wiles, J HowardDepartment of Haematology, St Thomas’ Hospital, Westminster, Bridge Road, London, SE1 7EH, UKAbstract: Sickle cell disease (SCD is a genetically inherited condition caused by a point mutation in the beta globin gene. This results in the production of the abnormal hemoglobin, sickle hemoglobin (HbS. Hydroxycarbamide, is an antimetabolite/cytotoxic which works by inhibiting ribonucleotide reductase, blocking the synthesis of DNA and arresting cells in the S phase. In sickle cell anemia, it promotes fetal hemoglobin (HbF synthesis, improves red cell hydration, decreases neutrophil and platelet count, modifies red cell endothelial cell interactions and acts as a nitric oxide donor. Trials have shown the clinical benefit of hydroxycarbamide in a subpopulation of adult patients with SCD, with a 44% reduction in the median annual rate of painful crises, a decrease in the incidence of acute chest syndrome and an estimated 40% reduction in overall mortality over a 9-year observational period. Its use in pediatrics has also been well established; trials have shown it is well tolerated and does not impair growth or development. In addition it decreases the number and duration of hospital attendences. A number of emerging uses of hydroxycarbamide currently are being investigated, such as stroke prevention.Keywords: sickle cell anemia, hydroxycarbamide, hydroxyurea, maximum tolerated dose, vaso-occlusive crisis

  18. Nutcracker Syndrome and Sickle Cell Trait: A Perfect Storm for Hematuria.

    Science.gov (United States)

    Ahmad, Amier; McElwee, Samuel K; Kraemer, Ryan R

    2017-05-01

    We describe the case of a 27-year-old woman with a history of sickle cell trait (SCT) who presented with several months of hematuria and was found to have nutcracker syndrome (NCS). While SCT is a common cause of hematuria resulting from renal papillary necrosis, our patient had concomitant abdominal pain and anemia, prompting further evaluation and the subsequent diagnosis of NCS. Interestingly, the anoxia in the left renal vein from NCS predisposes patients with SCT to sickling. Our case highlights key clinical features of both NCS and SCT and the relationship between the two disease processes.

  19. Alteraciones de la solubilización e inhibición de la precipitación de inmunocomplejos en la anemia drepanocítica Alterations of the solubilization and inhibition of the precipitation of immunocomplexes in sickle cell anemia

    Directory of Open Access Journals (Sweden)

    Julio C Merlín Linares

    2003-04-01

    Full Text Available Se estudiaron los fenómenos de solubilización e inhibición de la precipitación de inmunocomplejos en un grupo de 39 pacientes con anemia drepanocítica en crisis hepática (13 y en estado basal (26, utilizando como modelo el complejo125 I-toxoide tetánico/anti-toxoide tetánico. La inhibición de la precipitación estuvo disminuida en la crisis hepática y en el estado basal, con valores normales de la actividad hemolítica de la vía clásica y de los niveles séricos del C4, mientras que la disminución de la solubilización en la crisis hepática estuvo relacionada con una disminución de la actividad hemolítica de la vía alternativa, la actividad hemolítica del factor B y los niveles del componente C3, y con un aumento de los inmunocomplejos circulantes. Nuestros resultados sugieren la posible utilidad de estos mecanismos para evaluar otras funciones del complemento, no detectadas mediante una determinación de la actividad hemolítica, como medida de la función de las vías clásica y alternativaThe phenomena of solubilization and inhibition of the precipitation of immunocomplexes were studied in a group of 39 patients with sickle cell anemia in hepatic crisis (13 and in basal state (26, using as a model the tetanus toxoid/anti-tetanus toxoid complex125 I. The inhibition of the precipitation was reduced in the hepatic crisis and in the basal state with normal values of the haemolytic activity of the classical pathway and of the serum levels of C4, whereas the reduction of the solubilization in the hepatic crisis was related to a lowering of the haemolytic activity of the alternative pathway, the haemolytic activity of factor B and the levels of component C3, and to an increase of the circulating immunocomplexes. Our results suggest the possible usefulness of these mechanisms to evaluate other functions of the complement not detected by a determination of the haemolytic activity, as a measure of the function of..the classical and

  20. Análisis de algunas variables hematológicas, bioquímicas y clínicas en la anemia drepanocítica. Resultados preliminares Analysis of some hematological, biochemical and clinical variables in cases of sickle cell anemia.Preliminary results

    Directory of Open Access Journals (Sweden)

    Marianela Estrada del Cueto

    2010-08-01

    Full Text Available Se estudiaron 59 pacientes mayores de 18 años con anemia drepanocítica distribuidos en: grupo 1 (23 sin síndrome torácico agudo (STA, priapismo, ni úlceras maleolares; grupo 2 (39 que han presentado alguna de las complicaciones anteriores. En el grupo 2 se observó disminución significativa de la hemoglobina (Hb y la Hb fetal, así como aumento de plaquetas, deshidrogenasa láctica (LDH, aspartato aminotransferasa (AST, alanino aminotransferasa (ALT, bilirrubina total (BT, directa (BD e indirecta (BI, fosfatasa alcalina (FAL, creatin kinasa-MB (CK-MB y de la frecuencia de accidente vascular encefálico. La frecuencia de STA, úlceras maleolares y priapismo en el grupo 2, fue del 83,3; 33,3 y 50 %, respectivamente. El análisis de regresión lineal múltiple en el total de enfermos tomando como variable dependiente la LDH, mostró correlación negativa significativa para la Hb y el Hto y positiva para creatinina, AST, ALT, BT, BD, BI, FAL y CK-MB. La frecuencia de hipertensión pulmonar fue del 18,2 % (n= 10. Estos estudios pueden ser útiles en el diagnóstico precoz de complicaciones relacionadas con la hemólisis.A total of 59 patients aged over 18 with sickle cell anemia were studied distributed in: group 1 (23 without acute thoracic syndrome (ACS, priapism and malleolus ulcers; group 2 (39 with some of above complications. In group 2 there was a significant decrease of hemoglobin (Hb and the fetal Hb and a platelet increase, lactic dehydrogenase (LDH, aspartate aminotransferase (AST, alanine aminotransferase (ALT, total bilirubin (TB, alkaline phosphatase (APH, creatine kinase-MB (ck-MB and of encephalic stroke frequency. The frequency of AST, malleolus ulcers and priapism in group 2 was of 83.3 %, 33.3 % and 50 %, respectively. The multiple linear regression analysis in all patients considering the LDH as a negati ve correlation significant for Hb and the Hto and positive for creatinine, AST, ALT, TB, DB, IB, APH and CK-MB. The

  1. A Comprehensive, Ethnically Diverse Library of Sickle Cell Disease-Specific Induced Pluripotent Stem Cells.

    Science.gov (United States)

    Park, Seonmi; Gianotti-Sommer, Andreia; Molina-Estevez, Francisco Javier; Vanuytsel, Kim; Skvir, Nick; Leung, Amy; Rozelle, Sarah S; Shaikho, Elmutaz Mohammed; Weir, Isabelle; Jiang, Zhihua; Luo, Hong-Yuan; Chui, David H K; Figueiredo, Maria Stella; Alsultan, Abdulraham; Al-Ali, Amein; Sebastiani, Paola; Steinberg, Martin H; Mostoslavsky, Gustavo; Murphy, George J

    2017-04-11

    Sickle cell anemia affects millions of people worldwide and is an emerging global health burden. As part of a large NIH-funded NextGen Consortium, we generated a diverse, comprehensive, and fully characterized library of sickle-cell-disease-specific induced pluripotent stem cells (iPSCs) from patients of different ethnicities, β-globin gene (HBB) haplotypes, and fetal hemoglobin (HbF) levels. iPSCs stand to revolutionize the way we study human development, model disease, and perhaps eventually, treat patients. Here, we describe this unique resource for the study of sickle cell disease, including novel haplotype-specific polymorphisms that affect disease severity, as well as for the development of patient-specific therapeutics for this phenotypically diverse disorder. As a complement to this library, and as proof of principle for future cell- and gene-based therapies, we also designed and employed CRISPR/Cas gene editing tools to correct the sickle hemoglobin (HbS) mutation. Copyright © 2017 The Author(s). Published by Elsevier Inc. All rights reserved.

  2. Genetics Home Reference: sickle cell disease

    Science.gov (United States)

    ... Shizukuda Y, Plehn JF, Minter K, Brown B, Coles WA, Nichols JS, Ernst I, Hunter LA, Blackwelder WC, Schechter AN, Rodgers GP, Castro O, Ognibene FP. Pulmonary hypertension as a risk factor for death in patients with sickle cell disease. N Engl J Med. 2004 Feb 26;350( ...

  3. Neurocognitive Aspects of Pediatric Sickle Cell Disease.

    Science.gov (United States)

    Brown, Ronald T.; And Others

    1993-01-01

    This literature review on neurocognitive functioning and learning of children with sickle cell disease found diffuse neurocognitive deficits, with much variability across subjects. Studies of psychosocial development of these children indicate that behavioral problems, low self-esteem, and body image disturbances are frequently characteristic.…

  4. Sickle Cell: A Selected Resource Bibliography.

    Science.gov (United States)

    National Center for Education in Maternal and Child Health, Washington, DC.

    This annotated, selective bibliography lists the following types of educational and informational material on both sickle cell disease and trait: (1) professional education materials; (2) fact sheets, pamphlets, and brochures; and (3) audiovisual material. A selected list of references is provided for the following topic areas: (1) genetic…

  5. Pentazocine dependence among sickle cell disease patients ...

    African Journals Online (AJOL)

    Introduction: Sickle cell disease is a chronic disease. Severe bone pain is commonly the hallmark of clinical features. This commonly necessitates the use of analgesics especially Opioids which unfortunately have a high potential to produce dependence. The complications of dependence in patients on any psychoactive ...

  6. Sickle Cell Disease: What You Should Know

    Centers for Disease Control (CDC) Podcasts

    2008-09-10

    This podcast is for a general audience and gives information about sickle cell disease.  Created: 9/10/2008 by National Center on Birth Defects and Developmental Disabilities, Division of Blood Disorders.   Date Released: 9/15/2008.

  7. MRI of sickle cell cerebral infarction

    International Nuclear Information System (INIS)

    Zimmerman, R.A.; Goldberg, H.I.; Bilaniuk, L.T.; Hackney, D.B.; Johnson, M.; Grossman, R.I.; Hecht-Leavitt, C.; Gill, F.; Pennsylvania Univ., Philadelphia

    1987-01-01

    Eleven patients with sickle cell disease and neurological symptoms underwent MRI examination. Cerebral infarcts of two types were found, those in the vascular distribution of the middle cerebral artery and those in the deep white matter. In the patient whose hydration and whose oxygenation of erythrocytes has been treated, MRI offers diagnostic advantages over arteriography and CT. (orig.)

  8. Living Well with Sickle Cell Disease

    Science.gov (United States)

    ... Healthy Habits People with sickle cell disease should drink 8 to 10 glasses of water every day and eat healthy food. Try not to get too hot, too cold, or too tired. Children can, and should, participate in ... tired, and drink plenty of water. Look for clinical studies New ...

  9. The use of prophylactic partial exchange tranfusion in pregnancies associated with sickle cell hemoglobinopathies.

    Science.gov (United States)

    Morrison, J C; Wiser, W L

    1976-11-01

    Sickle cell anemia is associated with an alarming attrition rate during pregnancy. The maternal morbidity rate, perinatal wastage rate, and the incidence of severe morbidity in both mother and child are elevated above acceptable limits. In most cases, these statistics have been compiled using conservative therapeutic modalities. In contrast, this report utilizes prophylactic partial exchange transfusion therapy in patients with severe sickle cell hemoglobinopathies. The protocol involves the introduction of 750-1000 cc of buffy coat, poor washed red cells exchanged with 1000-1500 cc whole blood during phlebotomy at 28 weeks' gestation and again prior to term. Thirty-six consecutive pregnant patients with sickle cell anemia have been managed in this fashion. The one maternal mortality occurred in a patient who did not complete the protocol. Major maternal morbidity and perinatal wastage rates were significantly decreased. Two cases of serum hepatitis occurred. It appears from these data that the use of prophylactic partial exchange transfusion in pregnant patients with severe sickle cell hemoglobinopathies can be of benefit. Further trials of this method seem justified by these results to assess completely the benefit-risk ratio of this procedure.

  10. Asthma in Sickle Cell Disease: Implications for Treatment

    Directory of Open Access Journals (Sweden)

    Kathryn Blake

    2011-01-01

    Full Text Available Objective. To review issues related to asthma in sickle cell disease and management strategies. Data Source. A systematic review of pertinent original research publications, reviews, and editorials was undertaken using MEDLlNE, the Cochrane Library databases, and CINAHL from 1947 to November 2010. Search terms were [asthma] and [sickle cell disease]. Additional publications considered relevant to the sickle cell disease population of patients were identified; search terms included [sickle cell disease] combined with [acetaminophen], [pain medications], [vitamin D], [beta agonists], [exhaled nitric oxide], and [corticosteroids]. Results. The reported prevalence of asthma in children with sickle cell disease varies from 2% to approximately 50%. Having asthma increases the risk for developing acute chest syndrome , death, or painful episodes compared to having sickle cell disease without asthma. Asthma and sickle cell may be linked by impaired nitric oxide regulation, excessive production of leukotrienes, insufficient levels of Vitamin D, and exposure to acetaminophen in early life. Treatment of sickle cell patients includes using commonly prescribed asthma medications; specific considerations are suggested to ensure safety in the sickle cell population. Conclusion. Prospective controlled trials of drug treatment for asthma in patients who have both sickle cell disease and asthma are urgently needed.

  11. Tract specific analysis in patients with sickle cell disease

    Science.gov (United States)

    Chai, Yaqiong; Coloigner, Julie; Qu, Xiaoping; Choi, Soyoung; Bush, Adam; Borzage, Matt; Vu, Chau; Lepore, Natasha; Wood, John

    2015-12-01

    Sickle cell disease (SCD) is a hereditary blood disorder in which the oxygen-carrying hemoglobin molecule in red blood cells is abnormal. It affects numerous people in the world and leads to a shorter life span, pain, anemia, serious infections and neurocognitive decline. Tract-Specific Analysis (TSA) is a statistical method to evaluate white matter alterations due to neurocognitive diseases, using diffusion tensor magnetic resonance images. Here, for the first time, TSA is used to compare 11 major brain white matter (WM) tracts between SCD patients and age-matched healthy subjects. Alterations are found in the corpus callosum (CC), the cortico-spinal tract (CST), inferior fronto-occipital fasciculus (IFO), inferior longitudinal fasciculus (ILF), superior longitudinal fasciculus (SLF), and uncinated fasciculus (UNC). Based on previous studies on the neurocognitive functions of these tracts, the significant areas found in this paper might be related to several cognitive impairments and depression, both of which are observed in SCD patients.

  12. [Vitamin D in children and adolescents with sickle cell disease: an integrative review].

    Science.gov (United States)

    de Oliveira, Jacqueline Faria; Vicente, Natália Gomes; Santos, Juliana Pereira Pontes; Weffort, Virgínia Resende Silva

    2015-01-01

    To review the literature about the prevalence of vitamin D deficiency and its consequences in children and adolescents with sickle-cell disease. The literature survey was performed through the bibliographic databases Medline; U.S. National Library of Medicine and National Institutes of Health (PubMed); Literatura Latino-Americana e do Caribe em Ciências da Saúde (Lilacs), and the Cochrane Library. The keywords were selected using Medical Heading Terms (MeSH): "Vitamin D" OR "Vitamin D deficiency" AND "Anemia, Sickle Cell" AND "Child" AND "Adolescent". The search was limited to articles in English, Spanish and Portuguese, published until April 2014. Eleven articles were selected among the 18 found. In 6 of the 11 studies, serum levels of vitamin D in children and/or adolescents with sickle-cell anemia were low. The prevalence of vitamin D deficiency in patients with sickle-cell anemia exceeded that of the comparison group. The low intake of vitamin D, seasonality, exposure to sun, increased metabolism associated with the hemoglobinopathy, and age increase were factors associated with the deficiency. There was an association between a significant vitamin D deficiency and bone weakness and painful crises. There was a positive correlation between increased levels of vitamin D by supplementation and functional, physical capacity. The vitamin D deficiency in children and adolescents with sickle-cell disease is prevalent and requires further studies to demonstrate its association with comorbidities and possible benefits of vitamin D supplementation. Copyright © 2015 Sociedade de Pediatria de São Paulo. Publicado por Elsevier Editora Ltda. All rights reserved.

  13. CDC Grand Rounds: Improving the Lives of Persons with Sickle Cell Disease.

    Science.gov (United States)

    Hulihan, Mary; Hassell, Kathryn L; Raphael, Jean L; Smith-Whitley, Kim; Thorpe, Phoebe

    2017-11-24

    Approximately 100,000 Americans have sickle cell disease (SCD), a group of recessively inherited red blood cell disorders characterized by abnormal hemoglobin, called hemoglobin S or sickle hemoglobin, in the red blood cells. Persons with hemoglobin SS or hemoglobin Sß 0 thalassemia, also known as sickle cell anemia (SCA), have the most severe form of SCD. Hemoglobin SC disease and hemoglobin Sß + thalassemia are other common forms of SCD. Red blood cells that contain sickle hemoglobin are inflexible and can stick to vessel walls, causing a blockage that slows or stops blood flow. When this happens, oxygen cannot reach nearby tissues, leading to attacks of sudden, severe pain, called pain crises, which are the clinical hallmark of SCD. The red cell sickling and poor oxygen delivery can also cause damage to the brain, spleen, eyes, lungs, liver, and multiple other organs and organ systems. These chronic complications can lead to increased morbidity, early mortality, or both. Tremendous strides in treating and preventing the complications of SCD have extended life expectancy. Now, nearly 95% of persons born with SCD in the United States reach age 18 years (1); however, adults with the most severe forms of SCD have a life span that is 20-30 years shorter than that of persons without SCD (2).

  14. Sickle cell disease and pregnancy. Experience at the Instituto de Hematologia e Inmunología, Cuba Anemia drepanocítica y embarazo. Experiencia en el Instituto de Hematología e Inmunología, Cuba

    Directory of Open Access Journals (Sweden)

    Carlos Hernández-Padrón

    2012-12-01

    Full Text Available Pregnancy in women with sickle cell disease (SCD is a high-risk situation associated with increased incidence of maternal and fetal morbidity and mortality. In Cuba, the maternal care program includes the primary level and the gestational age at booking is before the 12 week of gestation and all deliveries are institutional. All pregnant women with SCD in La Habana are attended at the Institute of Hematology and Immunology (IHI by a multidisciplinary team and labor takes place at the obstetrics service of the General Hospital next to the IHI. From January 2000 to December 2009, 68 pregnant women with SCD were attended in labor; the frequency of the visits is every two weeks from gestational age at booking until week 32 of pregnancy and weekly until week 36 when they are hospitalized, in week 38 induction of labor is made. Patients were hospitalized upon the appearance of any event and in such cases induction of labor was made in week 36, if fetus was mature. The fetal well-being was evaluated starting from week 28 and every two weeks until childbirth. Non prophylactic blood transfusion or prophylactic exchange transfusions were indicated as this depends on the criteria of attending team; only 16 patients presented alert signs of requiring blood transfusion, 4 requiring blood exchange transfusions. All these procedures were carried out in the third trimester of pregnancy; 47 patients required caesarea indicated by the obstetrician; 17 newborns were underweight but only one with low apgar score. Two fetal deaths occurred and one new born had early neonatal death. Only one maternal death was reported.El embarazo en la anemia drepanocítica (AD es considerado una situación de alto riesgo por la alta incidencia de la morbimortalidad materno-fetal. En Cuba, el programa de atención integral a las embarazadas se incluye desde el nivel primario de salud y la captación se realiza antes de las 12 sem de gestación y los partos son institucionales. Todas

  15. Vitamin D in children and adolescents with sickle cell disease: an integrative review

    Science.gov (United States)

    de Oliveira, Jacqueline Faria; Vicente, Natália Gomes; Santos, Juliana Pereira Pontes; Weffort, Virgínia Resende Silva

    2015-01-01

    Objective: To review the literature about the prevalence of vitamin D deficiency and its consequences in children and adolescents with sickle-cell disease. Data sources: The literature survey was performed through the bibliographic databases MEDLINE; U.S. National Library of Medicine and National Institutes of Health (PubMed); Literatura Latino-Americana e do Caribe em Ciências da Saúde (Lilacs), and the Cochrane Library. The keywords were selected using Medical Heading Terms (MeSH): “vitamin D” OR “vitamin D deficiency” AND “anemia, sickle cell” AND “child” AND “adolescent”. The search was limited to articles in English, Spanish and Portuguese, published until April 2014. Data synthesis: Eleven articles were selected among the 18 found. In 6 of the 11 studies, serum levels of vitamin D in children and/or adolescents with sickle-cell anemia were low. The prevalence of vitamin D deficiency in patients with sickle-cell anemia exceeded that of the comparison group. The low intake of vitamin D, seasonality, exposure to sun, increased metabolism associated with the hemoglobinopathy, and age increase were factors associated with the deficiency. There was an association between a significant vitamin D deficiency and bone weakness and painful crises. There was a positive correlation between increased levels of vitamin D by supplementation and functional, physical capacity. Conclusions: The vitamin D deficiency in children and adolescents with sickle-cell disease is prevalent and requires further studies to demonstrate its association with comorbidities and possible benefits of vitamin D supplementation. PMID:26141903

  16. Elevated pulse pressure is associated with hemolysis, proteinuria and chronic kidney disease in sickle cell disease.

    Directory of Open Access Journals (Sweden)

    Enrico M Novelli

    Full Text Available A seeming paradox of sickle cell disease is that patients do not suffer from a high prevalence of systemic hypertension in spite of endothelial dysfunction, chronic inflammation and vasculopathy. However, some patients do develop systolic hypertension and increased pulse pressure, an increasingly recognized major cardiovascular risk factor in other populations. Hence, we hypothesized that pulse pressure, unlike other blood pressure parameters, is independently associated with markers of hemolytic anemia and cardiovascular risk in sickle cell disease. We analyzed the correlates of pulse pressure in patients (n  =  661 enrolled in a multicenter international sickle cell trial. Markers of hemolysis were analyzed as independent variables and as a previously validated hemolytic index that includes multiple variables. We found that pulse pressure, not systolic, diastolic or mean arterial pressure, independently correlated with high reticulocyte count (beta  =  2.37, p  =  0.02 and high hemolytic index (beta  =  1.53, p = 0.002 in patients with homozygous sickle cell disease in two multiple linear regression models which include the markers of hemolysis as independent variables or the hemolytic index, respectively. Pulse pressure was also independently associated with elevated serum creatinine (beta  =  3.21, p  =  0.02, and with proteinuria (beta  =  2.52, p  =  0.04. These results from the largest sickle cell disease cohort to date since the Cooperative Study of Sickle Cell Disease show that pulse pressure is independently associated with hemolysis, proteinuria and chronic kidney disease. We propose that high pulse pressure may be a risk factor for clinical complications of vascular dysfunction in sickle cell disease. Longitudinal and mechanistic studies should be conducted to confirm these hypotheses.

  17. [Major sickle cell syndromes and infections associated with this condition in children in Burkina Faso].

    Science.gov (United States)

    Douamba, Sonia; Nagalo, Kisito; Tamini, Laure; Traoré, Ismaël; Kam, Madibèlè; Kouéta, Fla; Yé, Diarra

    2017-01-01

    This study aims to investigate infections in children with major sickle cell syndrome. We conducted a monocentric descriptive retrospective hospital study in Ouagadougou, Burkina Faso, over a ten-year period. All children with major sickle cell syndrome (homozygous SS and double heterozygous SC, SD Punjab , Sβ thalassemic, SO Arab and SE) hospitalized for microbiologically confirmed infections were enrolled in the study. One hundred and thirty-three patients met our inclusion criteria. The SS phenotype accounted for 63.2% of cases and SC 36.8%. The frequency of infections was 21.8%. In 45.9% of cases, these affected children aged 0-5 years. The most frequent signs were osteoarticular pain (42.1%), cough (25.7%), abdominal pain (23.3%), pallor (43.6%). The major diagnoses were bronchopneumonia (31.6%), malaria (16.5%), osteomyelitis (12.8%) and septicemia (10.5%). The isolated pathogenic organisms were Streptococcus pneumoniae (35.5%) and Salmonella spp (33.3%). Third generation cephalosporins were the most commonly prescribed antibiotics. Gros mortality rate was 7.5%. Bacterial infections and malaria dominate the clinical picture of infections in children with major sickle cell syndrome at the at the Pediatrics University Hospital Center Charles De-Gaulle. This study highlights the importance of establishing a national program for the management of sickle-cell anemia, which could help prevent or reduce the occurrence of infections in children with sickle cell syndrome.

  18. Tuberculous spondylodiscitis in a patient with a sickle-cell disease: CT findings

    OpenAIRE

    Krupniewski, Leszek; Palczewski, Piotr; Gołębiowski, Marek; Kosińska-Kaczyńska, Katarzyna

    2012-01-01

    Summary Background: Although sickle-cell anemia (SCA) is common in black Americans, Sub-Saharan Africa and in the Mediterranean area, the disease is rare in the temperate climate zone. The manifestations of the disease are related mainly to the production of abnormal hemoglobin that leads to organ ischemia and increased susceptibility to infection caused by functional asplenia. Case Report: The authors present CT findings in a 39-year-old black woman diagnosed due to abdominal pain, lymphaden...

  19. Sickle Cell Disease in the Emergency Department: Atypical Complications and Management”

    OpenAIRE

    Brandow, Amanda M.; Liem, Robert

    2011-01-01

    Sickle cell disease is the most common inherited blood disorder in the United States. This disorder of hemoglobin structure leads to a chronic hemolytic anemia and complex chronic disease manifested by sudden, severe, and life-threatening complications. These acute complications can occur in any organ system beginning in early childhood and lasting throughout life. The intermittent nature and acuity of these complications lend the emergency department to be an important site of care. The hall...

  20. Atypical presentation of sickle cell disease

    Directory of Open Access Journals (Sweden)

    Md. Abdul Aziz

    2017-02-01

    Full Text Available A 20 year old female presented with a history of frequent syncopal attack since her childhood. Each episode persisted 5-10 min without having any aggravating factor or prodrome. She had persistent generalized bodyache aggravating during the winter. She had jaundice and episodic abdominal pain. She received 1 unit of blood transfusion 4 months back and improved sympto-matically. Patient was mildly anemic, moderately icteric and had mild splenomegaly. Over these long periods of her illness she was thoroughly evaluated several times. Her biochemical and neurological evaluation revealed no abnormalities. But she was treated with anticonvulsant for long time empirically without significant improvement. Her CBC showed microcytic hypochromic anemia. She was negative for Wilson’s disease. Reticulocyte count was high. Coomb’s test was negative. Osmotic fragility test was positive. Hemoglobin electrophoresis revealed Hb-S 60%. Sickling test was found positive. Finally it was diagnosed as a case of HbS/β+.

  1. Anestesia em paciente obstétrica portadora de anemia falciforme e traço talassêmico após plasmaféresis: relato de caso Anesthesia in obstetric patient with sickle cell anemia and thalassemic trait after plasmapheresis: case report

    Directory of Open Access Journals (Sweden)

    Eduardo Barbosa Leão

    2005-06-01

    encaminada a la UTI, bajo intubación orotraqueal, y en uso de drogas vasoactivas, habiendo sido extubada después de 3 horas. CONCLUSIONES: Este caso se mostró un desafío para el equipo, ya que la paciente presentaba inestabilidad hemodinámica y alteración del coagulograma, condiciones que contraindican la anestesia regional, además de esto, la plasmaféresis potencialmente depleta las existencias de colinesterasas plasmáticas, lo que interfiere en la anestesia. Mientras, el arsenal medicamentoso disponible, permitió el manoseo seguro de esta situación.BACKGROUND AND OBJECTIVES: Plasmapheresis is the technique of choice for severe hemolytic anemia patients. A consequence is plasma cholinesterase depletion, which interferes with metabolism of some neuromuscular blockers currently used in anesthesiology. CASE REPORT: Pregnant patient, 26 years old, physical status ASA IV, 30 weeks and 3 days gestational age, with sickle cell anemia, thalassemic trait and allo-immunization for high frequency antigens. Patient presented sickling crisis being transfused with incompatible blood. Patient evolved with massive hemolysis being admitted with 3 g/dL hemoglobin and 10% hematocrit, severe jaundice, tachycardia, apathic and pale. Hematological evaluation has concluded for the inexistence of compatible blood for transfusion. Patient was treated with steroids, immunoglobulins and plasmapheresis. In the second admission day patient evolved with acute renal failure and pulmonary edema, general state worsening and hemodynamic instability. Gestation resolution was indicated due to patient's clinical conditions and consequent acute fetal suffering. Patient was admitted to the operating room conscious, pale, with dyspnea, jaundice, 91% SpO2 in room air, heart rate of 110 bpm and blood pressure of 110 x 70 mmHg, under dopamine (1 µg.kg-1.min-1 and dobutamine (10 µg.kg-1.min-1. We decided for balanced general anesthesia with alfentanil (2.5 mg, etomidate (14 mg, atracurium (35 mg and

  2. Race and social attitudes about sickle cell disease.

    Science.gov (United States)

    Bediako, Shawn M; Moffitt, Kimberly R

    2011-01-01

    Sickle cell disease is perhaps the most racialized condition in the history of modern medicine, yet very little research has focused on how racial perceptions influence social attitudes about the disease. Subsequently, the implications of these perceptions for public health prevention efforts and the provision of clinical care are not well known. In this brief commentary, we posit that social cognitive and media framing theories provide useful approaches for assessing relations between race and social attitudes about sickle cell disease. Such inquiries might lead to more rigorous study of mechanisms that shape perceptions about sickle cell risk, interpersonal empathy toward patients, and public support for sickle cell-related policies.

  3. Ter anemia falciforme: nota prévia sobre seu significado para a criança expresso através da brincadeira Tener anemia falciforme: nota previa sobre el significado para el niño expresado a través del juego Having sickle-cell disease: short communication on the meaning for children as expressed through games what it means for them to have the disease

    Directory of Open Access Journals (Sweden)

    Ana Augusta Maciel de Souza

    2011-03-01

    Full Text Available Nota prévia de uma pesquisa que tem como objetivo compreender o significado de ter anemia falciforme para crianças de 3 a 12 anos de idade, a partir de uma investigação qualitativa ancorada no Interacionismo Simbólico como referencial teórico, e na Teoria Fundamentada nos Dados como referencial metodológico. Os dados são coletados por meio de entrevista com as crianças, mediada por uma sessão de Brinquedo Terapêutico. A análise preliminar dos dados permitiu compreender que ter anemia falciforme é uma vivência triste para a criança, porque, além de ser permeada pela dor, ela se percebe impotente frente ao sofrimento, reconhece seus sintomas, compreende a necessidade do tratamento, considerando-o apenas paliativo; que a família é um importante suporte, e o hospital, uma referência.Nota previa de una investigación que tiene como objetivo comprender el significado de tener anemia falciforme para niños de 3 a 12 años. Investigación cualitativa anclada en el Interaccionismo Simbólico como referencia teórica y en la Teoría Fundamentada en los datos como referencia metodológica. Los datos son recolectados por medio de entrevista con los niños, mediada por una sesión de Juguete Terapéutico. El análisis preliminar de los datos permitió comprender que tener anemia falciforme es una vivencia triste para el niño, porque además de ser atravesada por el dolor, ella se percibe impotente frente al sufrimiento, reconoce los síntomas, comprende la necesidad de tratamiento, considerándolo solamente paliativo, que la familia es un importante soporte y el hospital una referencia.Advance notice of a study aimed at understanding the significance of having sickle cell anemia for children 3 to 12 years old. It is a qualitative research grounded in Symbolic Interactionism as a theoretical perspective, and in Grounded Theory as a research method. The data have been collected through interview with the children by using therapeutic play

  4. Minimal doses of hydroxyurea for sickle cell disease

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    C.S.P. Lima

    1997-08-01

    Full Text Available The use of hydroxyurea (HU can improve the clinical course of sickle cell disease. However, several features of HU treatment remain unclear, including the predictability of drug response and determination of adequate doses, considering positive responses and minimal side effects. In order to identify adequate doses of HU for treatment of sickle cell disease, 10 patients, 8 with sickle cell anemia and 2 with Sß thalassemia (8SS, 2Sß, were studied for a period of 6 to 19 months in an open label dose escalation trial (10 to 20 mg kg-1 day-1. Hemoglobin (Hb, fetal hemoglobin (Hb F and mean corpuscular volume (MCV values and reticulocyte, neutrophil and platelet counts were performed every two weeks during the increase of the HU dose and every 4 weeks when the maximum HU dose was established. Reduction in the number of vasoocclusive episodes was also considered in order to evaluate the efficiency of the treatment. The final Hb and Hb F concentrations, and MCV values were significantly higher than the initial values, while the final reticulocyte and neutrophil counts were significantly lower. There was an improvement in the concentration of Hb (range: 0.7-2.0 g/dl at 15 mg HU kg-1 day-1, but this concentration did not increase significantly when the HU dose was raised to 20 mg kg-1 day-1. The concentration of Hb F increased significantly (range: 1.0-18.1% when 15 mg HU was used, and continued to increase when the dose was raised to 20 mg kg-1 day-1. The final MCV values increased 11-28 fl (femtoliters. However, reticulocyte (range: 51-205 x 109/l and neutrophil counts (range: 9.5-1.3 x 109/l obtained at this dose were significantly lower than those obtained with 15 mg kg-1 day-1. All patients reported a decrease in frequency or severity of vasoocclusive episodes. These results suggest that a hydroxyurea dose of 15 mg kg-1 day-1 seems to be adequate for treatment of sickle cell disease in view of the minimal side effects observed and the improvement

  5. The radiological manifestations of sickle cell disease

    International Nuclear Information System (INIS)

    Madani, G.; Papadopoulou, A.M.; Holloway, B.; Robins, A.; Davis, J.; Murray, D.

    2007-01-01

    Sickle cell disease (SCD) is an inherited abnormality of the ss-globin chain, which causes a spectrum of haemolytic anaemias. Clinical manifestations in SCD include anaemia, jaundice, recurrent vaso-occlusive crises, and infections (particularly by encapsulated bacteria) due to functional asplenia and cerebrovascular accidents. Radiological investigations play a critical role both in the diagnosis and in the primary prevention of the complications of SCD

  6. The radiological manifestations of sickle cell disease

    Energy Technology Data Exchange (ETDEWEB)

    Madani, G. [Department of Radiology, Royal Free Hospital NHS Trust, London (United Kingdom)]. E-mail: gittamadani@yahoo.com; Papadopoulou, A.M. [Department of Radiology, Royal Free Hospital NHS Trust, London (United Kingdom); Holloway, B. [Department of Radiology, Royal Free Hospital NHS Trust, London (United Kingdom); Robins, A. [Department of Paediatrics, Whittington Hospital NHS Trust, London (United Kingdom); Davis, J. [Department of Radiology, Whittington Hospital NHS Trust, London (United Kingdom); Murray, D. [Department of Radiology, Whittington Hospital NHS Trust, London (United Kingdom)

    2007-06-15

    Sickle cell disease (SCD) is an inherited abnormality of the ss-globin chain, which causes a spectrum of haemolytic anaemias. Clinical manifestations in SCD include anaemia, jaundice, recurrent vaso-occlusive crises, and infections (particularly by encapsulated bacteria) due to functional asplenia and cerebrovascular accidents. Radiological investigations play a critical role both in the diagnosis and in the primary prevention of the complications of SCD.

  7. [Partial splenectomy in sickle cell disease].

    Science.gov (United States)

    Gutiérrez Díaz, A I; Svarch, E; Arencibia Núñez, A; Sabournin Ferrier, V; Machín García, S; Menendez Veitía, A; Ramón Rodriguez, L; Serrano Mirabal, J; García Peralta, T; López Martin, L G

    2015-04-01

    Total splenectomy in sickle cell disease is related to a high risk of fulminant sepsis and increased incidence of other events, which have not been reported in patients with partial splenectomy. In this study we examined the patients with sickle cell disease and partial splenectomy and compared the clinical and laboratory results with non-splenectomized patients. We studied 54 patients with sickle cell disease who underwent partial splenectomy in childhood from 1986 until 2011 at the Institute of Hematology and Immunology. They were compared with 54 non-splenectomized patients selected by random sampling with similar characteristics. Partial splenectomy was performed at a mean age of 4.1 years, with a higher frequency in homozygous hemoglobin S (70.4%), and the most common cause was recurrent splenic sequestration crisis. The most common postoperative complications were fever of unknown origin (14.8%) and acute chest syndrome (11.1%). After splenectomy there was a significant increase in leukocytes, neutrophils, and platelets, the latter two parameters remained significantly elevated when compared with non-splenectomized patients. There was no difference in the incidence of clinical events, except hepatic sequestration, which was more common in splenectomized patients. Partial splenectomy was a safe procedure in patients with sickle cell disease. There were no differences in the clinical picture in children splenectomized and non-splenectomized except the greater frequency of hepatic sequestration crisis in the first group. Copyright © 2013 Asociación Española de Pediatría. Published by Elsevier España, S.L.U. All rights reserved.

  8. Orbital infarction in sickle cell disease

    International Nuclear Information System (INIS)

    Wolff, M.H.; Sty, J.R.

    1985-01-01

    Bone infarction is common in sickle cell disease; however, involvement of the orbit is not. Only four cases have been reported in the English literature. We describe a patient who presented with headache, proptosis and lid edema due to infarction of the sphenoid bone. The combination of radionuclide bone imaging and computed tomography (CT) of the orbit were useful in differentiating bone infarction from other etiologies of proptosis. (orig.)

  9. Trace elements in sickle cell disease

    International Nuclear Information System (INIS)

    Durosinmi, M.A.; Ojo, J.O.; Oluwole, A.F.; Akanle, O.A.; Arshed, W.; Spyrou, N.M.

    1993-01-01

    Instrumental Neutron Activation Analysis (INAA) and Proton-Induced X-ray Emission (PIXE) analysis (employed as a complementary technique) have been used to determine the concentration of 11 elements in blood samples and its components erythrocytes and plasma obtained from three groups of subjects in Nigeria viz: sickle cell anaemia (SCA) subjects, subjects with sickle cell trait and normal control subjects. The results suggest that SCA subjects have significantly higher concentrations of Na, Cl, Ca and Cu in their whole blood and erythrocytes and a higher concentration of Cl and Cu in their plasma relative to control subjects. Furthermore, a significantly lower concentration of K, Fe, Zn, Se, Br and Rb were found in the whole blood and erythrocytes of the SCA subjects as compared to the controls while the concentration of K and Fe in the plasma of the SCA subjects were however, found to be significantly higher than that of the control group. The study also shows that there were no significant differences between the concentration of these 11 elements in the group with sickle cell trait and the normal control group. (author) 20 refs.; 4 tabs

  10. 'It means everyone should know their status': exploring lay conceptions of sickle cell trait and sickle cell trait screening among African Americans within middle reproductive age.

    Science.gov (United States)

    Mayo-Gamble, Tilicia L; Barnes, Priscilla A; Cunningham Erves, Jennifer; Middlestadt, Susan E; Lin, Hsien-Chang

    2017-02-21

    This study examined the meaning of sickle cell trait and sickle cell trait screening from the lay perspective of African Americans. African Americans (N = 300), ages 18-35 and unaware of their sickle cell trait status, completed two open-ended questions from a larger survey. One question asked for their understanding of sickle cell trait; the other asked for their understanding of sickle cell trait screening. Content analysis occurred in two phases: (1) In vivo and holistic coding; and (2) focused coding. Four categories emerged illustrating lay conceptions of sickle cell trait; (1) Perceived as an illness; (2) Perceived recognition of the inheritance pattern of sickle cell trait; (3) Perceived lack of knowledge of sickle cell trait; and (4) Perceived importance of sickle cell trait. Five categories emerged illustrating lay conceptions for sickle cell trait screening: (1) Perceived recognition that screening means getting tested for sickle cell trait; (2) Perceived lack of knowledge of sickle cell trait screening; (3) Perceived health benefit of sickle cell trait screening; (4) Perceived importance of sickle cell trait screening; and (5) Perceived barriers to sickle cell trait screening. Sickle cell trait and sickle cell trait screening are concepts that are both regarded as important among this high-risk population. However, there is still misunderstanding concerning the hereditary nature and reproductive implications of sickle cell trait. Interventions seeking to improve communication on the need for sickle cell trait screening should begin by identifying what the population at large understands, knows and/or believes to improve their ability to make informed health decisions.

  11. The obstetric management of sickle cell disease.

    Science.gov (United States)

    Howard, Jo; Oteng-Ntim, Eugene

    2012-02-01

    Sickle cell disease (SCD) is the most common inherited disease worldwide and is associated with anaemia and intermittent severe pain. Pregnant women who are affected have increased maternal and fetal mortality and morbidity. In view of this obstetricians should have an awareness of this condition and its complications, and pregnancies in women with SCD should be managed by a multidisciplinary team with experience of high risk pregnancies. Ideally women should be seen preconceptually for optimisation of their SCD and partner screening. Antenatal care should include regular outpatient visits with regular monitoring for pre-eclampsia and of fetal growth. Blood transfusion should be used for the treatment of acute anaemia, acute chest syndrome or acute stroke but there is not sufficient evidence currently to recommend its use prophylactically. There is an increased prevalence of sickle crisis during pregnancy and patients should be monitored carefully throughout this time. Copyright © 2011 Elsevier Ltd. All rights reserved.

  12. Assistência de enfermagem a portadores de anemia falciforme, à luz do referencial de Roy Atención de enfermería a portadores de anemia falciforme apoyada en el modelo conceptual de Roy Nursing care to patiens with sickle cell disease in the light of Roy's model

    Directory of Open Access Journals (Sweden)

    Maria Lúcia Ivo

    2003-03-01

    ón; cuanto a la interdependencia, la madre fue referida como el otro significante más frecuente. Se identificó la oclusión de vasos sanguíneos como estímulo causador de comportamientos inefectivos y se verificó que la función fisiológica afectada altera otros modos de adaptación.This study aimed at applying the concepts from Roy's Adaptation Model in order to identify the behaviors (adaptive and ineffective of patients with sickle cell disease as well as the focal, contextual and residual stimuli that are responsible for such behaviors. Data collection was conducted in the Hemoglobinopathy Outpatient Unit of the University Hospital at the University of São Paulo at Ribeirão Preto School of Medicine. Nine subjects (8 females and 1 male were investigated. With respect to the physiological aspect, the ineffective behavior of low oxygenation and its outcomes (compromised physical development, sexual retardation hemolysis jaundice, respiratory alterations were evidenced. Regarding the psychosocial aspects, self-image showed a reduction in self-esteem as the most distinguished behavior; role performance was characterized by occupation change. Considering interdependence, the mother was reported as the most frequent significant "other". Vaso-occlusion was predominantly identified as the causing stimulus for ineffective behaviors. It was verified that the affected physiological function alters other adaptive aspects.

  13. Mechanism of testosterone deficiency in the transgenic sickle cell mouse.

    Directory of Open Access Journals (Sweden)

    Biljana Musicki

    Full Text Available Testosterone deficiency is associated with sickle cell disease (SCD, but its underlying mechanism is not known. We investigated the possible occurrence and mechanism of testosterone deficiency in a mouse model of human SCD. Transgenic sickle male mice (Sickle exhibited decreased serum and intratesticular testosterone and increased luteinizing hormone (LH levels compared with wild type (WT mice, indicating primary hypogonadism in Sickle mice. LH-, dbcAMP-, and pregnenolone- (but not 22-hydroxycholesterol- stimulated testosterone production by Leydig cells isolated from the Sickle mouse testis was decreased compared to that of WT mice, implying defective Leydig cell steroidogenesis. There also was reduced protein expression of steroidogenic acute regulatory protein (STAR, but not cholesterol side-chain cleavage enzyme (P450scc, in the Sickle mouse testis. These data suggest that the capacity of P450scc to support testosterone production may be limited by the supply of cholesterol to the mitochondria in Sickle mice. The sickle mouse testis exhibited upregulated NADPH oxidase subunit gp91phox and increased oxidative stress, measured as 4-hydroxy-2-nonenal, and unchanged protein expression of an antioxidant glutathione peroxidase-1. Mice heterozygous for the human sickle globin (Hemi exhibited intermediate hypogonadal changes between those of WT and Sickle mice. These results demonstrate that testosterone deficiency occurs in Sickle mice, mimicking the human condition. The defects in the Leydig cell steroidogenic pathway in Sickle mice, mainly due to reduced availability of cholesterol for testosterone production, may be related to NADPH oxidase-derived oxidative stress. Our findings suggest that targeting testicular oxidative stress or steroidogenesis mechanisms in SCD offers a potential treatment for improving phenotypic changes associated with testosterone deficiency in this disease.

  14. Hepatitis B Virus Infection In Patients With Homozygous Sickle Cell ...

    African Journals Online (AJOL)

    Nnebe-Agumadu U H, and Abiodun P O. Hepatitis B Virus Infection in Patients with Homozygous Sickle Cell Disease (HbSS): Need for Intervention. Annals Biomedical Sciences 2002; 1:79-87. This is a prospective study of 213 patients with sickle cell anaemia (SCA) (112 males and 101 females) aged 6 months to 18 years ...

  15. Serum Antioxidant Vitamins Levels in Children with Sickle Cell ...

    African Journals Online (AJOL)

    Sickle cell anaemia is associated with elevated oxidative stress via increase generation of reactive oxygen species (ROS), and decline in antioxidant defences. Increased oxidative stress is thought to play a role in the development of sickle cell anaemic complications. In the current study, vitamins A, C, and E levels were ...

  16. Alpha thalassemia among sickle cell anaemia patients in Kampala ...

    African Journals Online (AJOL)

    Keywords: Alpha thalassemia, sickle cell anaemia patients, Kampala, Uganda. DOI: http://dx.doi.org/10.4314/ahs.v15i2.48. Introduction. In the early 1960's many adults with sickle cell anaemia. (SCA) as well as those with mild disease were reported in Jamaica1. Various factors, both genetic and environmental, are.

  17. Knowledge of sickle cell disease among parturiant mothers in Benin ...

    African Journals Online (AJOL)

    Knowledge of sickle cell disease among parturiant mothers in Benin City and their attitude to newborn screening. ... Abstract. BACKGROUND; Sickle cell disease is the commonest genetic disorder of the black race. A high ... They were assessed using a pretested questionnaire a sample of which will be shown in the text.

  18. 21 CFR 864.7825 - Sickle cell test.

    Science.gov (United States)

    2010-04-01

    ... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Sickle cell test. 864.7825 Section 864.7825 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED) MEDICAL DEVICES HEMATOLOGY AND PATHOLOGY DEVICES Hematology Kits and Packages § 864.7825 Sickle cell test. (a...

  19. Anaesthetic Management of Homozygous Sickle Cell Patients at ...

    African Journals Online (AJOL)

    Background: Sickle cell disease is a common comorbidity in patient presenting for surgical care in our hospitals. The aim of this study was to evaluate the outcome of anaesthetic management of sickle cell disease patients in our hospital. Patients and method: A prospective audit was conducted for a period of 12 months, ...

  20. Awareness and acceptability of premarital screening of sickle cell ...

    African Journals Online (AJOL)

    Premarital screening for the diagnosis of Sickle Cell Disease is helpful in the prevention of the condition. It provides information about the health of the individual while assessing their health related reproductive risk. To evaluate the level of awareness and acceptability of premarital screening for sickle cell disease amongst ...

  1. Leptin and Anthropometric Indices in Adolescents with Sickle Cell ...

    African Journals Online (AJOL)

    Background: Leptin is a peptide hormone secreted by adipocytes and acts to promote weight loss by decreasing food intake, increasing metabolic rate and energy expenditure. In sickle cell anaemia (SCA), poor growth and nutritional status are common clinical features. Adolescence is a period of rapid growth; in sickle cell ...

  2. The scope of clinical morbidity in sickle cell trait

    African Journals Online (AJOL)

    Azza A.G. Tantawy

    to that of the general population. Nonetheless, given the large number of people with sickle cell ... 321. 4.2. Other genetic factors predisposing to exertional rhabdomyolysis . ..... unpressurized air flight or ground travel such as mountain climbing [20,21]. .... It is almost exclusive to young patients and associated with sickle cell.

  3. Advanced sickle cell associated interstitial lung disease presenting ...

    African Journals Online (AJOL)

    Previous studies have reported abnormal pulmonary function and pulmonary hypertension among Nigerians with sickle cell disease, but there is no report of interstitial lung disease among them. We report a Nigerian sickle cell patient who presented with computed tomography proven interstitial lung disease complicated by ...

  4. New concepts in assessing sickle cell disease severity

    NARCIS (Netherlands)

    Schnog, JJB; Lard, LR; Rojer, RA; Van der Dijs, FPL; Muskiet, FAJ; Duits, AJ

    Vasoocclusion leads to pain, chronic organ damage, and a decreased life expectancy in patients with sickle cell disease. Therapeutic options for sickle cell disease have usually been evaluated according to their capacity for reducing the frequency of vasoocclusive crises requiring clinical

  5. Review Of Consultations For Children With Sickle Cell Disease CHR Kenitra Morocco

    Directory of Open Access Journals (Sweden)

    Mouden Samira

    2015-01-01

    Full Text Available Abstract Also called sickle cell anemia Sickle cell anemia is a genetic disease of autosomal recessive linked to abnormal structure of the hemoglobin which leads to the formation of hemoglobin S HbS. The descriptive and cross that we conducted at the pediatric ward of the regional hospital Gharb study Chrarda benihessen Knitra we were enjoying a work force of 164 children with sickle cell disease over a period of twenty four months from June 2010 to June 2012 . On average seven to eight 7-8 new cases per year. The majority of these children admitted to the exhibit acute complications that are typically associated either to a chronic hemolytic anemia vaso -occlusive crisis acute chest syndrome or severe infections which aims to identify factors likely to play a role in the occurrence of the sickle cell crises. This can cause severe functional consequences with renal lung bone etc.. In order to understand the problems and difficulties faced by sickle cell and their families in their daily lives we have established a protocol form of a questionnaire exploring various aspects related to eating habits and lifestyle of these children. and their families as well as family socioeconomic status and the context of environmental life The size of the control group study consists of 60 children aged 7-14 years. Clinical and analytical information is collected from records medical records and doctors during consultations of these patients. The results show that 71 of these children are from rural areas against 20 of children of urban origin while 9 live in suburban area however. The majority of parents have irregular income low educational attainment. 68 of these children use septic false in parallel they use well water in consumption and domestic use. Clinical examination and blood cell abnormalities formula revealed prevalence of 76 for fever cases painful crises severe recurrent and unpredictable also observed as well as acute chest syndrome pneumonia or

  6. Pain measurement as part of primary healthcare of adult patients with sickle cell disease

    Directory of Open Access Journals (Sweden)

    Andreza Aparecida Felix Signorelli

    2013-01-01

    Full Text Available OBJECTIVE: The aim of this exploratory, cross-sectional study was to evaluate pain in sickle cell disease patients and aspects related to primary healthcare. METHODS: Data were obtained through home interviews. The assessment instruments (body diagram, Numerical Pain Scale, McGill Pain Questionnaire collected information on the underlying disease and on pain. Data were analyzed using the Statistical Package for Social Sciences program for Windows. Associations between the subgroups of sickle cell disease patients (hemoglobin SS, hemoglobin SC, sickle β-thalassemia and others and pain were analyzed using contingency tables and non-parametric tests of association (classic chi-square, Fisher's and Kruskal-Wallis with a level of 5% (p-value < 0.05 being set for the rejection of the null hypothesis. RESULTS: Forty-seven over 18-year-old patients with sickle cell disease were evaluated. Most were black (78.7% and female (59.6% and the mean age was 30.1 years. The average number of bouts of pain annually was 7.02; pain was predominantly reported by individuals with sickle cell anemia (hemoglobin SS. The intensity of pain (Numeric Pain Scale was 5.5 and the quantitative index (McGill was 35.9. This study also shows that patients presented a high frequency of moderately painful crises in their own homes. CONCLUSION: According to these facts, it is essential that pain related to sickle cell disease is properly identified, quantified, characterized and treated at the three levels of healthcare. In primary healthcare, accurate measurement of pain combined with better care may decrease acute painful episodes and consequently minimize tissue damage, thus improving the patient's overall health.

  7. Urinary abnormalities in children with sickle cell anaemia | Ugwu ...

    African Journals Online (AJOL)

    Background: Sickle cell anaemia (SCA) is a health problem worldwide. Almost all the organs of the body are affected by the combined effect of chronic hypoxia, repeated infarction and recurrent infections. Renal function may be progressively impaired in them as a result of sickling in the renal medulla. Microscopic ...

  8. Perfluorocarbon emulsion therapy attenuates pneumococcal infection in sickle cell mice.

    Science.gov (United States)

    Helmi, Nawal; Andrew, Peter W; Pandya, Hitesh C

    2015-05-15

    Impaired immunity and tissue hypoxia-ischemia are strongly linked with Streptococcus pneumoniae pathogenesis in patients with sickle cell anemia. Perfluorocarbon emulsions (PFCEs) have high O2-dissolving capacity and can alleviate tissue hypoxia. Here, we evaluate the effects of intravenous PFCE therapy in transgenic sickle cell (HbSS) mice infected with S. pneumoniae. HbSS and C57BL/6 (control) mice intravenously infected with S. pneumoniae were treated intravenously with PFCE or phosphate-buffered saline (PBS) and then managed in either air/O2 (FiO2 proportion, 50%; hereafter referred to as the PFCE-O2 and PBS-O2 groups) or air only (hereafter, the PFCE-air and PBS-air groups) gas mixtures. Lungs were processed for leukocyte and bacterial counts and cytokine measurements. HbSS mice developed severe pneumococcal infection significantly faster than C57BL/6 mice (Kaplan-Maier analysis, P < .05). PFCE-O2-treated HbSS mice had significantly better survival at 72 hours than HBSS mice treated with PFCE-air, PBS-O2, or PBS-air (P < .05). PFCE-O2-treated HbSS mice also had significantly lower pulmonary leukocyte counts, lower interleukin 1β and interferon γ levels, and higher interleukin 10 levels than PFCE-air-treated HbSS mice. Clearance of S. pneumoniae from lungs of HbSS mice or C57BL/6 mice was not altered by PFCE treatment. Improved survival of PFCE-O₂-treated HbSS mice infected with S. pneumoniae is associated with altered pulmonary inflammation but not enhanced bacterial clearance. © The Author 2014. Published by Oxford University Press on behalf of the Infectious Diseases Society of America. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  9. Genetic determinants and stroke in children with sickle cell disease,

    Directory of Open Access Journals (Sweden)

    Daniela O.W. Rodrigues

    Full Text Available Abstract Objective: To verify genetic determinants associated with stroke in children with sickle cell disease (SCD. Methods: Prospective cohort with 110 children submitted to neonatal screening by the Neonatal Screening Program, between 1998 and 2007, with SCD diagnosis, followed at a regional reference public service for hemoglobinopathies. The analyzed variables were type of hemoglobinopathy, gender, coexistence with alpha thalassemia (α-thal, haplotypes of the beta globin chain cluster, and stroke. The final analysis was conducted with 66 children with sickle cell anemia (SCA, using the chi-squared test in the program SPSS® version 14.0. Results: Among children with SCD, 60% had SCA. The prevalence of coexistence with α-thal was 30.3% and the Bantu haplotype (CAR was identified in 89.2%. The incidence of stroke was significantly higher in those with SCA (27.3% vs. 2.3%; p = 0.001 and males (24.1% vs. 9.6%; p = 0.044. The presence of α-thal (p = 0.196, the CAR haplotype (p = 0.543, and socioeconomic factors were not statistically significant in association with the occurrence of stroke. Conclusion: There is a high incidence of stroke in male children and in children with SCA. Coexistence with α-thal and haplotypes of the beta globin chain cluster did not show any significant association with stroke. The heterogeneity between previously evaluated populations, the non-reproducibility between studies, and the need to identify factors associated with stroke in patients with SCA indicate the necessity of conducting further research to demonstrate the relevance of genetic factors in stroke related to SCD.

  10. Genetic determinants and stroke in children with sickle cell disease.

    Science.gov (United States)

    Rodrigues, Daniela O W; Ribeiro, Luiz C; Sudário, Lysla C; Teixeira, Maria T B; Martins, Marina L; Pittella, Anuska M O L; Junior, Irtis de O Fernandes

    To verify genetic determinants associated with stroke in children with sickle cell disease (SCD). Prospective cohort with 110 children submitted to neonatal screening by the Neonatal Screening Program, between 1998 and 2007, with SCD diagnosis, followed at a regional reference public service for hemoglobinopathies. The analyzed variables were type of hemoglobinopathy, gender, coexistence with alpha thalassemia (α-thal), haplotypes of the beta globin chain cluster, and stroke. The final analysis was conducted with 66 children with sickle cell anemia (SCA), using the chi-squared test in the program SPSS ® version 14.0. Among children with SCD, 60% had SCA. The prevalence of coexistence with α-thal was 30.3% and the Bantu haplotype (CAR) was identified in 89.2%. The incidence of stroke was significantly higher in those with SCA (27.3% vs. 2.3%; p=0.001) and males (24.1% vs. 9.6%; p=0.044). The presence of α-thal (p=0.196), the CAR haplotype (p=0.543), and socioeconomic factors were not statistically significant in association with the occurrence of stroke. There is a high incidence of stroke in male children and in children with SCA. Coexistence with α-thal and haplotypes of the beta globin chain cluster did not show any significant association with stroke. The heterogeneity between previously evaluated populations, the non-reproducibility between studies, and the need to identify factors associated with stroke in patients with SCA indicate the necessity of conducting further research to demonstrate the relevance of genetic factors in stroke related to SCD. Copyright © 2016 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.

  11. Anisotropic light scattering of individual sickle red blood cells.

    Science.gov (United States)

    Kim, Youngchan; Higgins, John M; Dasari, Ramachandra R; Suresh, Subra; Park, YongKeun

    2012-04-01

    We present the anisotropic light scattering of individual red blood cells (RBCs) from a patient with sickle cell disease (SCD). To measure light scattering spectra along two independent axes of elongated-shaped sickle RBCs with arbitrary orientation, we introduce the anisotropic Fourier transform light scattering (aFTLS) technique and measured both the static and dynamic anisotropic light scattering. We observed strong anisotropy in light scattering patterns of elongated-shaped sickle RBCs along its major axes using static aFTLS. Dynamic aFTLS analysis reveals the significantly altered biophysical properties in individual sickle RBCs. These results provide evidence that effective viscosity and elasticity of sickle RBCs are significantly different from those of the healthy RBCs.

  12. Knowledge, attitude and control practices of sickle cell disease ...

    African Journals Online (AJOL)

    Knowledge, attitude and control practices of sickle cell disease among youth corps members ... PROMOTING ACCESS TO AFRICAN RESEARCH ... access to haemopoeitic stem cell transplantation (HSCT) in our environment, stronger efforts ...

  13. Hydroxyurea therapy contributes to infertility in adult men with sickle cell disease: a review.

    Science.gov (United States)

    DeBaun, Michael R

    2014-12-01

    Hydroxyurea therapy, a chemotherapeutic agent, is the only US FDA approved therapy for the prevention of vaso-occlusive pain in sickle cell disease (SCD). The National Institutes of Health has sponsored two Phase III randomized, placebo-controlled trials, initially in adults, and subsequently in children with sickle cell anemia (SCA). Despite the overwhelming evidence that hydroxyurea therapy is beneficial to children and adults with SCA, individuals with SCA and their families express reservations about its use, in part because of the concerns about fertility, particularly in men. As adolescent boys with SCD are now expected to reach their reproductive years, a new concern is emerging about the role of hydroxyurea therapy as a barrier to their progeny. This review will systemically evaluate compromised fertility in men with SCD, and the evidence that hydroxyurea therapy is associated with further decreasing fertility in men with SCD.

  14. Pathophysiological aspects of sickle cell vaso-occlusion

    International Nuclear Information System (INIS)

    Nagel, R.L.

    1987-01-01

    This book contains over 30 selections. Some of the titles are: An Animal Model for Sickle Cell Vaso-Occlusion: A Study Using NMR and Technetium Imaging; Sickle-Cell Vaso-Occlusion in an Animal Model: Intravital Microscopy and Radionuclide Imaging of Selective Sequestration of Dense Cells; Magnetic Resonance Imaging, Percentage of Dense Cells, and Serum Prostanoids as Tools for Objective Assessment of Pain Crisis: A Preliminary Report; and Painful Crisis and Dense Echinocytes: Effects of Hydration and Vasodilators

  15. Pathophysiology and treatment of pulmonary hypertension in sickle cell disease

    Science.gov (United States)

    Castro, Oswaldo L.; Machado, Roberto F.

    2016-01-01

    Pulmonary hypertension affects ∼10% of adult patients with sickle cell disease (SCD), particularly those with the homozygous genotype. An increase in pulmonary artery systolic pressure, estimated noninvasively by echocardiography, helps identify SCD patients at risk for pulmonary hypertension, but definitive diagnosis requires right-heart catheterization. About half of SCD-related pulmonary hypertension patients have precapillary pulmonary hypertension with potential etiologies of (1) a nitric oxide deficiency state and vasculopathy consequent to intravascular hemolysis, (2) chronic pulmonary thromboembolism, or (3) upregulated hypoxic responses secondary to anemia, low O2 saturation, and microvascular obstruction. The remainder have postcapillary pulmonary hypertension secondary to left ventricular dysfunction. Although the pulmonary artery pressure in SCD patients with pulmonary hypertension is only moderately elevated, they have a markedly higher risk of death than patients without pulmonary hypertension. Guidelines for diagnosis and management of SCD-related pulmonary hypertension were published recently by the American Thoracic Society. Management of adults with sickle-related pulmonary hypertension is based on anticoagulation for those with thromboembolism; oxygen therapy for those with low oxygen saturation; treatment of left ventricular failure in those with postcapillary pulmonary hypertension; and hydroxyurea or transfusions to raise the hemoglobin concentration, reduce hemolysis, and prevent vaso-occlusive events that cause additional increases in pulmonary pressure. Randomized trials have not identified drugs to lower pulmonary pressure in SCD patients with precapillary pulmonary hypertension. Patients with hemodynamics of pulmonary arterial hypertension should be referred to specialized centers and considered for treatments known to be effective in other forms of pulmonary arterial hypertension. There have been reports that some of these treatments

  16. Tibial and fibular angles in homozygous sickle cell disease

    International Nuclear Information System (INIS)

    Akamaguna, A.I.; Odita, J.C.; Ugbodaga, C.I.; Okafor, L.A.

    1986-01-01

    Measurements of the tibial and fibular angles made on ankle radiographs of 34 patients with sickle cell disease were compared with those of 36 normal Nigerians. Widening of the fibular angle, which is an indication of tibiotalar slant, was demonstrated in about 79% of sickle cell disease patients. By using fibular angle measurements as an objective method of assessing subtle tibiotalar slant, it is concluded that the incidence of this deformity is much higher among sickle cell disease patients than previously reported. The mean values of tibial and fibular angles in normal Nigerians are higher than has been reported amongst Caucasians. (orig.)

  17. Information Exploration System for Sickle Cell Disease and Repurposing of Hydroxyfasudil

    KAUST Repository

    Essack, Magbubah

    2013-06-10

    Background:Sickle cell disease (SCD) is a fatal monogenic disorder with no effective cure and thus high rates of morbidity and sequelae. Efforts toward discovery of disease modifying drugs and curative strategies can be augmented by leveraging the plethora of information contained in available biomedical literature. To facilitate research in this direction we have developed a resource, Dragon Exploration System for Sickle Cell Disease (DESSCD) (http://cbrc.kaust.edu.sa/desscd/) that aims to promote the easy exploration of SCD-related data.Description:The Dragon Exploration System (DES), developed based on text mining and complemented by data mining, processed 419,612 MEDLINE abstracts retrieved from a PubMed query using SCD-related keywords. The processed SCD-related data has been made available via the DESSCD web query interface that enables: a/information retrieval using specified concepts, keywords and phrases, and b/the generation of inferred association networks and hypotheses. The usefulness of the system is demonstrated by: a/reproducing a known scientific fact, the "Sickle_Cell_Anemia-Hydroxyurea" association, and b/generating novel and plausible "Sickle_Cell_Anemia-Hydroxyfasudil" hypothesis. A PCT patent (PCT/US12/55042) has been filed for the latter drug repurposing for SCD treatment.Conclusion:We developed the DESSCD resource dedicated to exploration of text-mined and data-mined information about SCD. No similar SCD-related resource exists. Thus, we anticipate that DESSCD will serve as a valuable tool for physicians and researchers interested in SCD. © 2013 Essack et al.

  18. Preoperative blood transfusions for sickle cell disease

    Science.gov (United States)

    Estcourt, Lise J; Fortin, Patricia M; Trivella, Marialena; Hopewell, Sally

    2016-01-01

    Background Sickle cell disease is one of the commonest severe monogenic disorders in the world, due to the inheritance of two abnormal haemoglobin (beta globin) genes. Sickle cell disease can cause severe pain, significant end-organ damage, pulmonary complications, and premature death. Surgical interventions are more common in people with sickle cell disease, and occur at much younger ages than in the general population. Blood transfusions are frequently used prior to surgery and several regimens are used but there is no consensus over the best method or the necessity of transfusion in specific surgical cases. This is an update of a Cochrane review first published in 2001. Objectives To determine whether there is evidence that preoperative blood transfusion in people with sickle cell disease undergoing elective or emergency surgery reduces mortality and perioperative or sickle cell-related serious adverse events. To compare the effectiveness of different transfusion regimens (aggressive or conservative) if preoperative transfusions are indicated in people with sickle cell disease. Search methods We searched for relevant trials in The Cochrane Library, MEDLINE (from 1946), Embase (from 1974), the Transfusion Evidence Library (from 1980), and ongoing trial databases; all searches current to 23 March 2016. We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Trials Register: 18 January 2016. Selection criteria All randomised controlled trials and quasi-randomised controlled trials comparing preoperative blood transfusion regimens to different regimens or no transfusion in people with sickle cell disease undergoing elective or emergency surgery. There was no restriction by outcomes examined, language or publication status. Data collection and analysis Two authors independently assessed trial eligibility and the risk of bias and extracted data. Main results Three trials with 990 participants were eligible for inclusion in the review. There were no

  19. Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation

    Science.gov (United States)

    2017-07-24

    Thalassemia; Sickle Cell Disease; Glanzmann Thrombasthenia; Wiskott-Aldrich Syndrome; Chronic-granulomatous Disease; Severe Congenital Neutropenia; Leukocyte Adhesion Deficiency; Schwachman-Diamond Syndrome; Diamond-Blackfan Anemia; Fanconi Anemia; Dyskeratosis-congenita; Chediak-Higashi Syndrome; Severe Aplastic Anemia

  20. Extramedullary hematopoiesis of the liver in a child with sickle cell disease: A rare complication.

    Science.gov (United States)

    Barrier, Angela; Willy, Simo; Slone, Jeremy S

    2015-08-01

    We present the case of a 7-year-old Cameroonian girl with sickle cell disease (SCD) who presented with progressive abdominal distension, fever, severe anemia, respiratory distress, and fatigue. Abdominal ultrasound showed a 15.3 cm × 11.5 cm × 15.5 cm solid echogenic mass within the left lobe of the liver. Fine-needle aspiration showed features of extramedullary hematopoiesis (EMH). Despite transfusions, antibiotics, and initiation of hydroxyurea the patient died of respiratory failure during the hospital stay. There is a paucity of information on EMH in the pediatric sickle cell population, especially from resource-limited settings such as western Africa. EMH, however, is a known complication of SCD and should be considered in patients presenting with mass lesions in the setting of chronic anemia. With limited therapeutic interventions for EMH, including radiation and hydroxyurea, the emphasis should be on improving overall treatment of patients with chronic and untreated hemolytic anemia, especially in low-income countries. © 2015 Japan Pediatric Society.

  1. Sickle cell vaso-occlusion in an animal model

    International Nuclear Information System (INIS)

    Kurantsin-Mills, J.; Jacobs, H.M.; Lessin, L.S.

    1987-01-01

    Sickle cell disease is clinically characterized with vaso-occlusive painful crisis which is pleomorphic in terms of frequency of occurrence. The intracellular polymerization of deoxygenated hemoglobin S increases the internal viscosity of the sickle cells exponentially, concurrent with binding of hemoglobin S to the membrane and discocyte-drepanocyte transformation. As a result, the red cells in sickle cell disease are heterogenous with cells of varying density and mean corpuscular hemoglobin concentration which alter the rheological features of the blood in the microcirculation. The cellular, physiological, biochemical and rheological factors that contribute to the vaso-occlusive events are not completely understood. Nonetheless, recent clinical studies have demonstrated that a certain fraction of the dense cells disappear during sickle cell painful crisis. In an attempt to elucidate some of the cellular and rheological factors involved in the initiation of vaso-occlusion, the authors have employed intravital videomicroscopy and radionuclide imaging of indium-III labeled sickle cells to determine the dynamics and sites of vaso-occlusion using the rat exchanged-transfused with sickle (HbSS) erythrocytes as a model

  2. Dynamic Cerebral Autoregulation in Homozygous Sickle Cell Disease

    NARCIS (Netherlands)

    Kim, Yu-Sok; Nur, Erfan; van Beers, Eduard J.; Truijen, Jasper; Davis, Shyrin C. A. T.; Biemond, Bart J.; van Lieshout, Johannes J.

    2009-01-01

    Background and Purpose-Sickle cell disease (SCD) is associated with cerebral hyperperfusion and an increased risk of stroke. Also, both recurrent microvascular obstruction and chronic hemolysis affect endothelial function, potentially interfering with systemic and cerebral blood flow control. We

  3. Erectile Dysfunction in patients with Sickle Cell Anaemia | Ibidapo ...

    African Journals Online (AJOL)

    Erectile Dysfunction in patients with Sickle Cell Anaemia. ... leading to an increased haemolysis as well as vaso-occlusive complications including ... bone pain crises, blood transfusion (over a 3 year period) as well as erectile dysfunction.

  4. Osteocalcin and bone-specific alkaline phosphatase in Sickle cell ...

    African Journals Online (AJOL)

    specific alkaline phosphatase (b-AP) total protein levels were evaluated as indicators of bone turnover in twenty patients with sickle cell haemoglobinopathies and in twenty normal healthy individuals. The serum bonespecific alkaline phosphatase ...

  5. Orbital Infarction due to Sickle Cell Disease without Orbital Pain

    Directory of Open Access Journals (Sweden)

    Cameron L. McBride

    2016-01-01

    Full Text Available Sickle cell disease is a hemoglobinopathy that results in paroxysmal arteriolar occlusion and tissue infarction that can manifest in a plurality of tissues. Rarely, these infarcted crises manifest in the bony orbit. Orbital infarction usually presents with acute onset of periorbital tenderness, swelling, erythema, and pain. Soft tissue swelling can result in proptosis and attenuation of extraocular movements. Expedient diagnosis of sickle cell orbital infarction is crucial because this is a potentially sight-threatening entity. Diagnosis can be delayed since the presentation has physical and radiographic findings mimicking various infectious and traumatic processes. We describe a patient who presented with sickle cell orbital crisis without pain. This case highlights the importance of maintaining a high index of suspicion in patients with known sickle cell disease or of African descent born outside the United States in a region where screening for hemoglobinopathy is not routine, even when the presentation is not classic.

  6. Cardio–Pulmonary Response Of Patients With Sickle Cell Anaemia ...

    African Journals Online (AJOL)

    Cardio–Pulmonary Response Of Patients With Sickle Cell Anaemia ... any risk of adverse cardio-respiratory response during the course of physical rehabilitation. A total of 70 subjects participated in the study; 30 of these had Haemoglobin ...

  7. Pregnancy Outcome among Patients with Sickle Cell Disease in Jos

    African Journals Online (AJOL)

    Zamzar

    The antenatal complications included anaemia (62.9%), vaso-oclusive. (bone pain) ... Conclusion: Pregnancy in sickle cell disease patients is associated with high maternal and perinatal morbidity .... and malaria (25.7%) were other common.

  8. Children with sickle cell disease who are experiencing psychosocial ...

    African Journals Online (AJOL)

    Children with sickle cell disease who are experiencing psychosocial problems concurrently with their mothers: a Nigerian study. ... you can download the PDF file directly to your computer, from where it can be opened using a PDF reader.

  9. the orthodontic management of an adult with sickle cell disease

    African Journals Online (AJOL)

    2015-09-01

    Sep 1, 2015 ... a patient with Sickle Cell Disease (SCD) needs ortho- dontic treatment ... Orthodontic Management. 215. Measures ... under strict control by the Dental Hygienists to avoid ... Ghana. Pediatrics 2008; 121 (suppl 2): 120-121. 2.

  10. Evaluation of sexual maturity among adolescent male sickle cell ...

    African Journals Online (AJOL)

    Methods. We conducted a cross-sectional case-control study evaluating sexual maturation of male patients with sickle cell anaemia and those .... statistical location were calculated for continuous data and ..... Butterworth's Medical Dictionary.

  11. Sickle cell protection from malaria: a review

    Directory of Open Access Journals (Sweden)

    Sandro Eridani

    2011-11-01

    Full Text Available A linkage between presence of Sickle Haemoglobin (HbS and protection from malaria infection and clinical manifestations in certain areas was suspected from early observations and progressively elucidated by more recent studies. Research has confirmed the abovementioned connection, but also clarified how such protection may be abolished by coexistence of sickle cell trait (HbS trait and alpha thalassemia, which may explain the relatively low incidence of HbS trait in the Mediterranean. The mechanisms of such protective effect are now being investigated: factors of genetic, molecular and immunological nature are prominent. As for genetic factors attention is given to the role of the red blood cell (RBC membrane complement regulatory proteins as polymorphisms of these components seem to be associated with resistance to severe malaria; genetic ligands like the Duffy group blood antigen, necessary for erythrocytic invasion, and human protein CD36, a major receptor for P. falciparum-infected RBC‘s, are also under scrutiny: attention is focused also on plasmodium erythrocyte-binding antigens, which bind to RBC surface components. Genome-wide linkage and association studies are now carried out too, in order to identify genes associated with malaria resistance. Only a minor role is attributed to intravascular sickling, phagocytosis and haemolysis, while specific molecular mechanisms are the object of intensive research: among these a decisive role is played by a biochemical sequence, involving activation of haeme oxygenase (HMO-1, whose effect appears mediated by carbon monoxide (CO. A central role in protection from malaria is also played by immunological factors, which may stimulate antibody production to plasmodium antigens in the early years of life; the role of agents like pathogenic CD8 T-cells has been suggested while the effects of molecular actions on the immunity mechanism are presently investigated. It thus appears that protection from

  12. Mantle Cell Hyperplasia of Peripheral Lymph Nodes as Initial Manifestation of Sickle Cell Disease.

    Science.gov (United States)

    Monabbati, Ahmad; Noori, Sadat; Safaei, Akbar; Ramzi, Mani; Eghbali, Seyedsajjad; Adib, Ali

    2016-01-01

    Sickle cell disease (SCD) is a well known hemoglobinopathy with usual manifestations including anemia, hyperbilirubinemia, and vasoocclusive complications. Despite presence of mild splenomegaly in early phase of the disease, lymphadenopathy is not an often finding of SCD. We introduce an undiagnosed case of SCD who presented in third decade of his life with multiple cervical lymphadenopathies and mild splenomegaly persistent for about five years. Histopathologic examination of the resected lymph nodes showed expansion of the mantle cell layers of secondary follicles as well as several monomorphic mantle cell nodules. To rule out possibility of a malignant process involving lymph nodes, an immunohistochemical panel was ordered which was in favor of benign mantle cell hyperplasia. Immunoglobulin gene rearrangement study showed no clonal bands and confirmed benign nature of the process. Respecting mild abnormalities on Complete Blood Count, peripheral blood smear was reviewed revealing some typical sickle red blood cells as well as rare nucleated red blood cells. Solubility test for hemoglobin (HB) S was positive. Hemoglobin electrophoresis confirmed diagnosis of homozygous HbS disease.

  13. Hydroxyurea for the Treatment of Sickle Cell Disease: Efficacy, Barriers, Toxicity, and Management in Children

    Science.gov (United States)

    Strouse, John J.; Heeney, Matthew M.

    2012-01-01

    Hydroxyurea is the only approved medication in the United States for the treatment of sickle cell anemia (HbSS) and is widely used in children despite an indication limited to adults. We review the evidence of efficacy and safety in children with reference to pivotal adult studies. This evidence and expert opinion form the basis for recommended guidelines for the use of hydroxyurea in children including indications, dosing, therapeutic and safety monitoring, and interventions to improve adherence. However, there are substantial gaps in our knowledge to be addressed by on-going and planned studies in children. PMID:22517797

  14. Moderate dose of hydroxyurea in children with sickle cell disease and stroke. Preliminary results

    OpenAIRE

    Machín-García, Sergio; Menéndez-Veitía, Andrea; Scherle-Matamoros, Claudio; Svarch, Eva; González-Otero, Alejandro; Arencibia-Núñez, Alberto; Gutiérrez-Díaz, Adys; Lam-Díaz, Rosa M

    2014-01-01

    Twenty children with sickle cell anemia, two with SC hemoglobinopathy and one with S/â0 thalassemia were treated, with a previous stroke or abnormal ultrasound transcranial Doppler (TCD) flow velocities more than 170 cm/s. The mean follow-up was of 41 ± 19 months. Hydroxyurea (HU) at a dose of 25 mg/kg/day associated with chronic transfusion therapy, was administrated during one year to patients with stroke. Patients with abnormal TCD received only HU at the same dose. There was a significant...

  15. Perioperative Management of Sickle Cell Disease.

    Science.gov (United States)

    Adjepong, Kwame Ofori; Otegbeye, Folashade; Adjepong, Yaw Amoateng

    2018-01-01

    Over 30 million people worldwide have sickle cell disease (SCD). Emergent and non-emergent surgical procedures in SCD have been associated with relatively increased risks of peri-operative mortality, vaso-occlusive (painful) crisis, acute chest syndrome, post-operative infections, congestive heart failure, cerebrovascular accident and acute kidney injury. Pre-operative assessment must include a careful review of the patient's known crisis triggers, baseline hematologic profile, usual transfusion requirements, pre-existing organ dysfunction and opioid use. Use of preoperative blood transfusions should be selective and decisions individualized based on the baseline hemoglobin, surgical procedure and anticipated volume of blood loss. Intra- and post-operative management should focus on minimizing hypoxia, hypothermia, acidosis, and intravascular volume depletion. Pre- and post-operative incentive spirometry use should be encouraged.

  16. Alpha thalassemia among sickle cell anaemia patients in Kampala, Uganda.

    Science.gov (United States)

    Lubega, Irene; Ndugwa, Christopher M; Mworozi, Edison A; Tumwine, James K

    2015-06-01

    Sickle cell anaemia is prevalent in sub Saharan Africa. While α+-thalassaemia is known to modulate sickle cell anaemia, its magnitude and significance in Uganda have hitherto not been described. To determine the prevalence of α+thalassaemia among sickle cell anaemia patients in Mulago Hospital and to describe the clinical and laboratory findings in these patients. A cross sectional study was carried out on patients with sickle cell anaemia in Kampala. Dried blood spots were used to analyze for the deletional α+ thalassaemia using multiplex polymerase chain reaction. Of the 142 patients with sickle cell anaemia, 110 (77.5%) had the αα+thalassaemia deletion. The gene frequency of (-α) was 0.425. Ninety one percent (100/110) of those with α+thalassaemia were heterozygous (αα/α-). Amongst the patients older than 60 months, 15 (83.3%) of those without αα+thalassaemia had significant hepatomegaly of greater than 4 cm compared to 36 (45.6%) of those with α+thalassaemia (p=0.003). The gene frequency of (-α) of 0.425 noted in this study is higher than that reported from many places in Africa. Concurrent alpha thalassemia might be a protective trait against significant hepatomegaly in sickle cell anaemia patients more than 60 months of age at Mulago hospital.

  17. Sickle cell disease in Madhya Pradesh, Central India: A comparison of clinical profile of sickle cell homozygote vs. sickle-beta thalassaemia individuals.

    Science.gov (United States)

    Yadav, Rajiv; Lazarus, Monica; Ghanghoria, Pawan; Singh, Mpss; Gupta, Rasik Behari; Kumar, Surendra; Sharma, Ravendra K; Shanmugam, Rajasubramaniam

    2016-10-01

    The clinical manifestation in sickle cell disease (SCD) patients varies from one individual to another due to factors like the presence of alpha-thalassaemia mutation, foetal haemoglobin, and β-globin gene haplotype. The present study enumerates the clinical profile of sickle cell anaemia patients from Central India. Seven hundred seventy-six SCD patients from Jabalpur and surrounding districts (Madhya Pradesh) in central India were registered with the sickle cell clinic of NIRTH, Jabalpur. The present study reveals recorded signs and symptoms of genetically confirmed sickle cell anaemia (404) and sickle beta thalassaemia (92) patients. Majority of the patients were from scheduled caste communities (47.9%) and Gond tribal community (13.8%). Splenomegaly was the most common clinical manifestation observed (71.4%). Overall, 63.5% patients had a history of blood transfusion. The most frequent signs and symptoms observed were Pallor, Icterus, Joint pain, Fever, and Fatigue. Majority of the patients revealed onset of disease prior to attaining the age of 3 years (sickle cell anaemia 44.3% and sickle beta thalassaemia 35.9%). Mean haemoglobin levels among SCA individuals were marginally higher than SBT patients. On the other hand, mean foetal haemoglobin levels among SBT individuals showed the reverse trend. Notably, the present study reports the first incidence of priapism recorded in Central India. The study revealed a high prevalence of SCD among scheduled caste, backward caste, and tribal communities. Dissemination of study findings, screening, pre-marriage counselling, and pre-natal diagnosis are fundamental to preventing or lowering of birth of sickle cell anaemia children in the affected populations.

  18. The management of painful crisis in sickle cell disease.

    Science.gov (United States)

    Wright, Josh; Ahmedzai, Sam H

    2010-06-01

    Until recently management of sickle pain was the province of haematologists. However, a recent National Confidential Enquiry into Patient Outcome and Death report highlighted problems with the management of pain and opioid analgesia in this group and suggested a multiagency approach similar to that used in palliative care. Pain is the most frequent complication of this haemoglobin disorder. Sickle cell disease is very variable with many patients leading full lives with long periods with little or no pain. At the other end of the spectrum there are those who exist in a sea of pain. The mechanisms of sickle pain are poorly understood and evidence for the best treatment modalities sparse. Historically there has been a dearth of clinical trials in sickle cell; however, this is starting to be addressed. In this review we will give a brief overview of the disease and its pathogenesis before examining the epidemiology, management of pain in sickle cell disease. We will also review recent evidence regarding quality of life and discuss the role of opioid hyperalgesia in sickle cell disease.

  19. [Susceptibility of induced sickle in samples of heterozygous hemoglobin S patients (sickle cell trait) suffering diabetes mellitus type 2].

    Science.gov (United States)

    Díaz-Piedra, Pablo; Cervantes-Villagrana, Alberto Rafael; Ramos-Jiménez, Raúl; Presno-Bernal, José Miguel; Cervantes-Villagrana, Rodolfo Daniel

    2015-01-01

    Hemoglobin S is an abnormal protein that induces morphological changes in erythrocyte in low-oxygen conditions. In Mexico, it is reported that up to 13.7% of the population with mutation in one allele are considered asymptomatic (sickle cell trait). The sickle cell trait and diabetes mellitus are conditions that occur together in more than one million patients worldwide. Both diseases possibly produce microvascular changes in retinopathy and acute chest syndrome. The aim of this study was to evaluate the induction of sickle cells in samples of diabetic patients with sickle cell trait to identify altered red cell parameters. We obtained samples of diabetic patients to determine hemoglobin A1c and S; furthermore, red blood cell biometrics data were analyzed. We found that older men with diabetes were susceptible to generate sickle cells and this correlated with reduced red blood cell count and an increase in media cell volume. In samples of women diabetes, there were no differences. We conclude that samples from patients with sickle cell trait and diabetes can cause sickle cells with high frequency in men, with lower red blood cells count and increased mean corpuscular volume as susceptibility parameters.

  20. [Coexisting systemic lupus erythematosus and sickle cell disease: case report and literature review].

    Science.gov (United States)

    Robazzi, Teresa Cristina M V; Alves, Crésio; Abreu, Laís; Lemos, Gabriela

    2015-01-01

    To report a case of coexisting systemic lupus erythematosus (SLE) and sickle cell disease (SCD) with a review of the literature on the topic. Report of case and research of the association between SLE and SCD in literature through scientific articles in health sciences databases, such as LILACS, MEDLINE/Pubmed and Scielo, until May 2012. Descriptors used: 1. Sickle cell anemia; 2. Sickle cell disease; 3. Systemic lupus erythematosus; 4. Hemoglobinopathies. The authors describe an association between SLE and SS hemoglobinopathy in an eight-year-old female patient displaying articular, hematologic and neuropsychiatric manifestations during clinical evolution. Forty-five cases of association between SLE and SCD are described in literature, mostly adult (62.2%), women (78%) and with the SS phenotype in 78% of the cases, and different clinical manifestations. Compared with our patient, articular, hematologic and neuropsychiatric manifestations were present in 76%, 36% and 27% of the cases, respectively. SLE and SCD are chronic diseases that have several clinical and laboratory findings in common, meaning difficult diagnosis and difficulty in finding the correct treatment. Although the association between these diseases is not common, it is described in literature, so it is imperative that physicians who treat such diseases be alert to this possibility. Copyright © 2012 Elsevier Editora Ltda. All rights reserved.

  1. The Role of Blood Transfusion in the Management of Sickle Cell ...

    African Journals Online (AJOL)

    , in patients with sickle cell disease (SCD). There is general lack of appreciation by clinicians, of the sub-optimal or frankly harmful effects, of inappropriate transfusion in SCD. This article discusses the relevant pathophysiology of sickle cell ...

  2. Survey of Medicinal Plants Used in the Management of Sickle Cell ...

    African Journals Online (AJOL)

    Survey of Medicinal Plants Used in the Management of Sickle Cell Disease by Traditional ... The main method of preparation is by decoction and in most cases, the ... Keywords: Ethnobotany, Sickle Cell Disease, Traditional Medicine, Gbonyin ...

  3. [Management of sickle cells disease by households in Bamako].

    Science.gov (United States)

    Sangho, Hamadoun; Keïta, Haoua Dembélé; Keïta, Assan Sidibé; Diarra, Fatoumata Y; Belemou, Boureyma; Dia, Amadou; Traoré, Mahamadou; Keïta, Fatoumata Danfaga; Diarra, Assa; Diakité, Baye; Diallo, Dapa; Sidibé, Toumani

    2009-01-01

    The sickle cell disease constitutes a major problem of public health. We find 5% to 20% of carriers of this disease in West Africa and 40% among some populations in central Africa (Congo, Zaire) and Nigeria (Beguè). In Mali prevalence is estimated to 12% with 3% for the homozygote form. It is a known disease and well documented on the scientific plan and its management is better and better codified nowadays, which contributes to the improvement of life quality. For this reason, Centre for Research and Documentation on Child Survival (CREDOS) lead this study. The aim was to assess the knowledge of the mothers for a best management of sickle cell disease in the households. We conducted a cross-sectional study with single passage realized in the households in 6 communes of Bamako district. We inquired 360 parents of children less than 5 years, according to the method of cluster sampling. The study found that 95.8% of mothers know the sickle cell disease. In addition 63.9% of the mothers didn't know the complications of the sickle cell disease and 58% the causes. In the event of discovered sickle cell disease, 58.3% of the mothers stated to want to resort to a medical structure in first intention, 18.3% with self medication and 13.9% with the traditional practitioner. In front of a sickle cell disease crisis, 56% stated to have recourse to modern medicine against 15.2% with the traditional practitioner. Household's implication in the management of the child sickle cell disease suffers a low knowledge of cause, clinical signs, and complications of this disease by the parents. For a better knowledge of this pathology by the families, information and education of the populations through messages BCC are necessary.

  4. Amelioration of Sickle Cell Pain after Parathyroidectomy in Two Patients with Concurrent Hyperparathyroidism: An Interesting Finding

    Directory of Open Access Journals (Sweden)

    John Muthu

    2016-01-01

    Full Text Available Patients with sickle cell disease have high morbidity and healthcare utilization due to repeated painful crises. Some coexisting conditions which cause pain similar to sickle cell disease may go undiagnosed in these patients. We report two adults with concurrent hyperparathyroidism who experienced significant improvement in sickle cell pain following parathyroidectomy thereby pointing to hyperparathyroidism as the principal causative factor for their pain. Meticulous evaluation for parathyroid disorders can be rewarding in sickle cell disease.

  5. Sickle-cell hip necrosis and intraosseous pressure.

    Science.gov (United States)

    Mukisi, M M; Bashoun, K; Burny, F

    2009-04-01

    Osteonecrosis of the femoral head (ONFH) is a frequent complication of sickle-cell disease. Numerous studies have demonstrated increased intraosseous pressure (IOP) in idiopathic necrosis and necrosis secondary to corticotherapy or alcohol poisoning. Several reports have testified to the clinical interest of decompression by drilling which, when performed in the early course of the pathology, can arrest or slow evolution. To the best of our knowledge, no studies have reported IOP increase in sickle-cell ONFH. The present study sought to show that intraosseous hyperpressure plays a role in the physiopathology of sickle-cell, like idiopathic, ONFH. Sixteen intraosseous pressure (IOP) measurements were taken: eight in adult sickle-cell disease patients, four in sickle-cell trait carrying ONFH patients (AS) and four in non-sickle-cell ONFH patients (AA). Arterial blood-pressure equipment with bone-puncture needle was used to measure IOP in the great trochanter body. Three IOP measurements were made after zero calibration: before drilling (direct pressure: IOP-1), after hyperpressure test but before drilling (IOP-2), and after drilling (IOP-3). The present, admittedly short, series displayed elevated predrilling IOP-1 and IOP-2, reduced after drilling (IOP-3). Abnormal IOP fell after drilling performed for evolutive symptomatic ONFH. Significant differences in IOP-1 and IOP-2 were found, these being higher in the "sickle-cell disease" and "sickle-cell trait carriers" groups (pintraosseous hyperpressure is the cause of the pain and of the onset and evolution of ONFH. The drilling tunnel acts as a safety valve, achieving real decompression of the segment involved and immediate postoperative reduction in or disappearance of pain. Measuring pressure is of diagnostic interest in sickle-cell disease patients with symptomatic hips. Manometry can be performed independently of surgery, under local anesthesia, and provides early confirmation of ONFH in geographic regions in which

  6. Successful orthotopic liver transplantation in an adult patient with sickle cell disease and review of the literature

    Directory of Open Access Journals (Sweden)

    Morey Blinder

    2013-05-01

    Full Text Available Sickle cell disease can lead to hepatic complications ranging from acute hepatic crises to chronic liver disease including intrahepatic cholestasis, and iron overload. Although uncommon, intrahepatic cholestasis may be severe and medical treatment of this complication is often ineffective. We report a case of a 37 year-old male patient with sickle cell anemia, who developed liver failure and underwent successful orthotopic liver transplantation. Both pre and post-operatively, he was maintained on red cell transfusions. He remains stable with improved liver function 42 months post transplant. The role for orthotopic liver transplantation is not well defined in patients with sickle cell disease, and the experience remains limited. Although considerable challenges of post-transplant graft complications remain, orthotopic liver transplantation should be considered as a treatment option for sickle cell disease patients with end-stage liver disease who have progressed despite conventional medical therapy. An extended period of red cell transfusion support may lessen the post-operative complications.

  7. Interventions for treating painful sickle cell crisis during pregnancy.

    Science.gov (United States)

    Martí-Carvajal, Arturo J; Peña-Martí, Guiomar E; Comunián-Carrasco, Gabriella; Martí-Peña, Arturo J

    2009-01-21

    Sickle cell disease is a group of genetic haemoglobin disorders. All over the world, about 300,000 children with these disorders are born each year. Acute sickle cell pain episodes are the most common cause of hospitalisation. Pregnancy in women with sickle cell disease is associated with an increased incidence of maternal and fetal morbidity and mortality. The painful crisis is a severe complication of this illness, and it requires several interventions: packed red cell transfusion, fluid replacement therapy, analgesic drugs, oxygen therapy and steroids; but the approach is not standardised. To assess the effectiveness and safety of different regimens of packed red cell transfusion, oxygen therapy, fluid replacement therapy, analgesic drugs, and steroids for the treatment of painful sickle cell crisis during pregnancy. We searched the Cochrane Pregnancy and Childbirth Group's Trials Register (December 2007), the Cochrane Cystic Fibrosis and Genetic Disorders Group's Trials Register (October 2007), LILACS database (1982 to December 2007) and the following web sites: ClinicalTrials.gov (http://www.clinicaltrials.gov) (December 5, 2007); Current Controlled Trials (http://controlled-trials.com/) (December 5, 2007), and Sistema de Información Esencial en Terapéutica y Salud (http://www.icf.uab.es/informacion/Papyrus/sietes.asp) (December 1, 2007). We also handsearched the European Haematology Association conference (June 2007), the American Society of Hematology conference (December 2007) and reference lists of all retrieved articles. We intended to include randomised clinical trials. We intended to summarise data by standard Cochrane Collaboration methodologies. We could not find any randomised clinical trials on interventions (packed red cell transfusion, oxygen therapy, fluid replacement therapy, analgesic drugs, and steroids) for the treatment of painful sickle cell crisis during pregnancy. This review found no randomised clinical trials on the safety and

  8. Cranial involvement in sickle cell disease

    Energy Technology Data Exchange (ETDEWEB)

    Alkan, Ozlem, E-mail: yalinozlem@hotmail.com [Department of Radiology, Faculty of Medicine, Baskent University, Ankara (Turkey); Kizilkilic, Ebru, E-mail: ebru90@yahoo.com [Department of Hematology, Faculty of Medicine, Baskent University, Ankara (Turkey); Kizilkilic, Osman, E-mail: ebos90@hotmail.com [Department of Radiology, Faculty of Medicine, Baskent University, Ankara (Turkey); Yildirim, Tulin, E-mail: ytulin@hotmail.com [Department of Radiology, Faculty of Medicine, Baskent University, Ankara (Turkey); Karaca, Sibel, E-mail: sibelkaraca@hotmail.com [Department of Neurology, Faculty of Medicine, Baskent University, Ankara (Turkey); Yeral, Mahmut, E-mail: mahmutyeral@hotmail.com [Department of Hematology, Faculty of Medicine, Baskent University, Ankara (Turkey); Kasar, Mutlu, E-mail: mutlukasar@hotmail.com [Department of Hematology, Faculty of Medicine, Baskent University, Ankara (Turkey); Ozdogu, Hakan, E-mail: hakanozdogu@hotmail.com [Department of Hematology, Faculty of Medicine, Baskent University, Ankara (Turkey)

    2010-11-15

    Purpose: To evaluate cranial findings in patients with neurologically symptomatic sickle cell disease (SCD). Materials and methods: We studied 50 consecutive patients with SCD and neurologic symptoms. All patients underwent brain MR examinations: all 50 underwent classic MR imaging; 42, diffusion-weighted MR imaging; 10, MR angiography; four, MR venography; and three patients, digital subtraction angiography. Results: Of the 50 SCD patients, 19 (38%) had normal MR findings, and 31 (62%) showed abnormalities on brain MR images. Of the 50 patients, 16 (32%) had ischemic lesions; two (4%), subarachnoid hemorrhage; one (2%), moya-moya pattern; one (2%), posterior reversible encephalopathy; one (2%), dural venous sinus thrombosis; 12 (24%), low marrow signal intensity and thickness of the diploic space; 12 (24%), cerebral atrophy; and two (4%), osteomyelitis. Twenty-seven patients (54%) presented with headache, which was the most common clinical finding. Conclusions: The cranial involvement is one of the most devastating complications of SCD. Early and accurate diagnosis is important in the management of cranial complications of SCD.

  9. Transcranial Doppler Ultrasound in Peninsular Arab Patients With Sickle Cell Disease.

    Science.gov (United States)

    Adekile, Adekunle; Hassan, Meaad; Asbeutah, Akram; Al-Hinai, Mohamed; Trad, Omar; Farhan, Nayef

    2018-05-06

    Transcranial Doppler ultrasound is used to identify patients with sickle cell disease (SCD) at risk for stroke. We performed transcranial Doppler studies in patients from 4 countries in the Arabian Peninsula (Kuwait, Oman, Iraq, and United Arab Emirates) to document the prevalence of abnormal transcranial Doppler findings. The patients were recruited from outpatient clinics and studied in a steady state. Transcranial Doppler examinations were performed with standard equipment by experienced operators. The time-averaged maximum mean velocity (TAMMV) was documented in the arteries of the circle of Willis. The hemoglobin (Hb) genotype was confirmed, and the fetal Hb level and complete blood counts were determined. There were 415 patients in the study, aged 2 to 18 years (mean ± SD, 8.6 ± 3.5 years). None of the patients had an abnormal TAMMV (ie, > 200 cm/s), whereas only 13 (3.1%), all from Iraq, had conditional values (170-200 cm/s) in the right middle cerebral artery and 7 (1.7%) in the left middle cerebral artery. There were no consistent TAMMV differences among male and female patients or in patients with different Hb genotypes (sickle cell anemia, sickle cell β 0- thalassemia, and sickle D). The use of hydroxyurea was associated with a lower TAMMV, whereas a blood transfusion history had no influence. Total hemoglobin, reticulocyte count, serum bilirubin, and fetal Hb values showed varying degrees of association with the TAMMV in the different vessels. This study has demonstrated the rarity of abnormal transcranial Doppler findings among Peninsular Arab patients with SCD. The guidelines for transcranial Doppler screening in this population need further studies and recommendations. © 2018 by the American Institute of Ultrasound in Medicine.

  10. A fatal case of immune hyperhemolysis with bone marrow necrosis in a patient with sickle cell disease

    Directory of Open Access Journals (Sweden)

    Matthew S. Karafin

    2017-03-01

    Full Text Available In patients with sickle cell disease, hyperhemolysis is a rare but life-threatening complication of transfusion. In this case report, we describe a 61 year-old woman with hemoglobin sickle cell (SC disease and history of alloimmunization who developed hyperhemolysis associated with a transfusion. She was found to have a warm and a clinically-significant cold autoantibody. Severe anemia (Hb 2.7 g/dL with reticulocytopenia and thrombocytopenia prompted a bone marrow biopsy, which demonstrated extensive bone marrow necrosis. Despite treatment, the bone marrow failure did not improve and the patient died on hospital day 38. This case illustrates the potential risks of transfusion in a patient with sickle cell disease, especially one with previous hemolytic reactions. While uncommon, hyperhemolysis can cause death, in this case by extensive bone marrow necrosis. In patients with sickle cell disease, judicious use of red cell transfusions with phenotypically-matched units can diminish, but never completely abrogate, the risks associated with transfusion.

  11. Prevalence of sickle cell disease among Grenadian newborns.

    Science.gov (United States)

    Antoine, Magdalene; Lee, Ketty; Donald, Tyhiesia; Belfon, Yonni; Drigo, Ali; Polson, Sharon; Martin, Francis; Mitchell, George; Etienne-Julan, Maryse; Hardy-Dessources, Marie-Dominique

    2018-03-01

    Objective To establish the birth prevalence of sickle cell disease in Grenada, with a view to assess the requirement for a population-based neonatal screening programme. Methods A two-year pilot neonatal screening programme, involving the Ministry of Health of Grenada, the Sickle Cell Association of Grenada, and the diagnostic laboratory of hemoglobinopathies of the University Hospital of Guadeloupe, was implemented in 2014-2015 under the auspices of the Caribbean Network of Researchers on Sickle Cell Disease and Thalassemia. Results Analysis of 1914 samples processed identified the following abnormal phenotypes: 10 FS, 2 FSC, 183 FAS, 63 FAC. These data indicate β s and β c allele frequencies of 0.054 and 0.018, respectively. Conclusion Neonatal screening conducted in the framework of this Caribbean cooperation can allow rapid detection and earlier management of affected children.

  12. Bilateral orbital bone infarction in sickle-cell disease.

    Science.gov (United States)

    Ghafouri, Roya H; Lee, Irene; Freitag, Suzanne K; Pira, Tony N

    2011-01-01

    This is a case of a 2-year-old boy with sickle cell disease who presented with bilateral eyelid swelling, limited extraocular motility, and lateral subperiosteal fluid collection associated with bilateral lateral orbital wall infarctions on MRI. The patient was managed medically with intravenous fluids, analgesics, broad-spectrum antibiotics, systemic steroids, and clinically improved. Patients with sickle cell disease are susceptible to infarction of the orbital bones during vaso-occlusive crises. Orbital wall infarction can lead to acute proptosis and restricted extraocular motility. Orbital wall infarction should be considered in sickle cell patients with orbital diseases so that appropriate treatment can be instituted promptly to prevent the serious sequelae of orbital compression syndrome.

  13. Recovery of autologous sickle cells by hypotonic wash.

    Science.gov (United States)

    Wilson, Emily; Kezeor, Kelly; Crosby, Monica

    2018-01-01

    It is important to isolate autologous red blood cells (RBCs) from transfused RBCs in samples from recently transfused patients to ensure that accurate serologic results are obtained. Typically, this isolation can be performed using methods that separate patient reticulocytes from transfused, older donor RBCs. Patients with sickle cell disease (SCD), however, characteristically have RBCs with altered membrane and morphological features, causing their RBCs to take on a sickle-shape appearance different from the biconcave disc-shape appearance of "normal" RBCs. These characteristics enable the use of hypotonic saline solution to lyse normal RBCs while allowing "sickle cells" to remain intact. Because many patients with SCD undergo frequent transfusions to treat their condition, the use of hypotonic saline solution provides a rapid method to obtain autologous RBCs for serologic testing from this patient population using standard laboratory equipment and supplies.

  14. Sickle cell trait and sudden death--bringing it home.

    Science.gov (United States)

    Mitchell, Bruce L.

    2007-01-01

    Sickle cell trait continues to be the leading cause of sudden death for young African Americans in military basic training and civilian organized sports. The syndrome may have caused the death of up to 10 college football players since 1974 and, as recently as 2000, was suspected as the cause of death of three U.S. Army recruits. The penal military-style boot camps in the United States and the recent death of two teenagers with sickle cell trait merits renewed vigor in the education of athletic instructors, the military and the public about conditions associated with sudden death in individuals with sickle cell trait. Images Figure 1 Figure 2 PMID:17393956

  15. Sickle cell disease with orbital infarction and epidural hematoma

    International Nuclear Information System (INIS)

    Naran, A.D.; Fontana, L.

    2001-01-01

    Although bone infarction is a common feature in sickle cell disease, the involvement of the orbit is an unusual complication. Intracranial bleeding is another uncommon and serious complication. Few cases of orbital infarction alone have been reported. We report imaging findings (CT, bone scan, MRI) in a 16-year-old boy with sickle cell disease with orbital infarction and epidural hematoma. The precise cause of epidural hematoma is not well known, but it is probably related to vaso-occlusive episodes and the tearing of small vessels. (orig.)

  16. Detrimental effects of adenosine signaling in sickle cell disease

    Science.gov (United States)

    Zhang, Yujin; Dai, Yingbo; Wen, Jiaming; Zhang, Weiru; Grenz, Almut; Sun, Hong; Tao, Lijian; Lu, Guangxiu; Alexander, Danny C; Milburn, Michael V; Carter-Dawson, Louvenia; Lewis, Dorothy E; Zhang, Wenzheng; Eltzschig, Holger K; Kellems, Rodney E; Blackburn, Michael R; Juneja, Harinder S; Xia, Yang

    2016-01-01

    Hypoxia can act as an initial trigger to induce erythrocyte sickling and eventual end organ damage in sickle cell disease (SCD). Many factors and metabolites are altered in response to hypoxia and may contribute to the pathogenesis of the disease. Using metabolomic profiling, we found that the steady-state concentration of adenosine in the blood was elevated in a transgenic mouse model of SCD. Adenosine concentrations were similarly elevated in the blood of humans with SCD. Increased adenosine levels promoted sickling, hemolysis and damage to multiple tissues in SCD transgenic mice and promoted sickling of human erythrocytes. Using biochemical, genetic and pharmacological approaches, we showed that adenosine A2B receptor (A2BR)-mediated induction of 2,3-diphosphoglycerate, an erythrocyte-specific metabolite that decreases the oxygen binding affinity of hemoglobin, underlies the induction of erythrocyte sickling by excess adenosine both in cultured human red blood cells and in SCD transgenic mice. Thus, excessive adenosine signaling through the A2BR has a pathological role in SCD. These findings may provide new therapeutic possibilities for this disease. PMID:21170046

  17. knowledge, attitude and control practices of sickle cell disease

    African Journals Online (AJOL)

    2009-04-01

    Apr 1, 2009 ... cell disease, there is a marked inter- and intra-individual variability in terms of ... only potentially curative therapy for sickle cell disease. This form of ... groups, their sources of information and haemoglobin phenotype status were ..... benefit analysis of prevention versus treatment of a similar genetic disease.

  18. Beta thalassaemia traits in Nigerian patients with sickle cell anaemia ...

    African Journals Online (AJOL)

    Journal of Medicine and Biomedical Research ... These three patients (1.2%) were found to have positive co-inheritance of thalassaemia trait and sickle cell anaemia. The erythrocyte indices were all reduced in these selected families except for one family whose mean cell haemoglobin concentration was within normal ...

  19. Hydroxyurea (hydroxycarbamide) for sickle cell disease.

    Science.gov (United States)

    Nevitt, Sarah J; Jones, Ashley P; Howard, Jo

    2017-04-20

    Sickle cell disease (SCD) is one of the most common inherited diseases worldwide. It is associated with lifelong morbidity and a reduced life expectancy. Hydroxyurea (hydroxycarbamide), an oral chemotherapeutic drug, ameliorates some of the clinical problems of SCD, in particular that of pain, by raising fetal haemoglobin. This is an update of a previously published Cochrane Review. To assess the effects of hydroxyurea therapy in people with SCD (all genotypes), of any age, regardless of setting. We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Haemoglobinopathies Register, comprising of references identified from comprehensive electronic database searches and handsearches of relevant journals and abstract books of conference proceedings. We also searched online trial registries.Date of the most recent search: 16 January 2017. Randomised and quasi-randomised controlled trials, of one month or longer, comparing hydroxyurea with placebo, standard therapy or other interventions for people with SCD. Authors independently assessed studies for inclusion, carried out data extraction and assessed the risk of bias. Seventeen studies were identified in the searches; eight randomised controlled trials were included, recruiting 899 adults and children with SCD (haemoglobin SS (HbSS), haemoglobin SC (HbSC) or haemoglobin Sβºthalassaemia (HbSβºthal) genotypes). Studies lasted from six to 30 months.Four studies (577 adults and children with HbSS or HbSβºthal) compared hydroxyurea to placebo; three recruited individuals with only severe disease and one recruited individuals with all disease severities. There were statistically significant improvements in terms of pain alteration (using measures such as pain crisis frequency, duration, intensity, hospital admissions and opoid use), measures of fetal haemoglobin and neutrophil counts and fewer occurrences of acute chest syndrome and blood transfusions in the hydroxyurea groups. There were no consistent

  20. Hematological parameters in sick cell anemia patients with and without priapism

    International Nuclear Information System (INIS)

    Ahmed, Sagir G.; Ibrahim, Umma A.; Hassan, Abba W.

    2006-01-01

    Priapism was associated with certain hematological parameters in sickle cell anemia (SCA) patients in one report but not in another. We studied differences haematological parameters between SCA patients with and without priapism. Eighteen patients with SCA who presented with acute priapism during the years 2001-2004 were compared with age-and sex-matched SCA patients without priapism with respect to hematocrit, reticulocyte count, level of irreversibly sickled cells (ISC), percentage of haemoglobin (Hb F), total leukocyte and platelet counts. SCA patients with priapism had a mean hematocrit of 0.28 L/L, which was significantly higher than mean hematocrit value of 0.24 L/L (P<0.05) in patients without priapism. The mean reticulocyte count of 8% in patients with priapism was siginificantly lower than mean reticulocyte count of 12% (P<0.05) in patients without priapism. The level of ISC of 3% in patients with priapism was significantly lower than the level of 6.5% (P<0.05) in patients without priapism. There was no statistically significant difference in the mean levels of Hb F (7% vs. 6%). Patients with priapism had a mean leukocyte count that did not significantly differ from values in patients without priapism. SCA patients with priapism had a lower rate of hemolysis resulting in a higher hematocrit and greater blood viscosity, which increased the risk of corpora cavernosal sickling and blockade. Hence, a relatively higher hematocrit is risk factor for the development priapism in patients with sickle cell anemia. (author)

  1. Are sickle cell anaemia and sickle cell trait predictive factors for periodontal disease? A cohort study.

    Science.gov (United States)

    de Carvalho, H L C C; Thomaz, E B A F; Alves, C M C; Souza, S F C

    2016-10-01

    Periodontal diseases are associated with bacterial challenge and the host immune response, and are also modulated by genetic factors. There is evidence that sickle cell anaemia (SCA) does not represent a risk factor for periodontal diseases. However, it is still unclear whether the heterozygous condition [sickle cell trait (SCT)] is associated with periodontal diseases. SCT is a genetic condition that can cause vaso-occlusive events, which may be associated with a propensity to bacterial infections. The aim of this study was to investigate the association of SCA and SCT with periodontal diseases by evaluating clinical and radiographic characteristics. The sample (n = 369) was selected and divided into two groups: exposed groups [HbSS (SCA genotype) and HbAS (SCT genotype) = 246] and a nonexposed group (HbAA = 123). HbAA consisted of individuals without SCA and SCT. The clinical parameters evaluated were plaque index, gingival index, calculus index, clinical probing depth, clinical attachment level, gingival recession, tooth mobility and furcation involvement. The percentage of alveolar bone loss was measured using a Schei ruler. Binomial and Poisson regressions were used to estimate correlations of interest (α = 0.05). None of the periodontal parameters was associated with SCA. SCT was associated with gingivitis (p = 0.041) and periodontitis (p = 0.002). Individuals with SCT had a lower plaque index (p = 0.044) but a higher calculus index (p = 0.003) and greater alveolar bone loss (p = 0.010) compared with subjects in the HbAA group. SCT can act as a predictor for establishment of periodontal diseases. There was no correlation between SCA and periodontal diseases. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  2. A comparison study of children with sickle cell disease and their non-diseased siblings on hopelessness, depression, and perceived competence.

    Science.gov (United States)

    Lee, E J; Phoenix, D; Brown, W; Jackson, B S

    1997-01-01

    The purpose of this comparison study was to explore the extent to which hopelessness and self-perceptions of competence are associated with depression in a community population of children with sickle cell disease compared to their non-diseased siblings. Subjects were African-American children drawn randomly from the case management programme at the L.D. Barksdale Sickle Cell Anemia Foundation. Depression scores were higher for the non-diseased siblings. The children with sickle cell disease scored lower on the perceived physical competence scale. Recommendations for practice include increasing hope, improving relationships, monitoring depression in patients and their siblings, and monitoring perceptions of cognitive, social, physical, and general self-worth.

  3. Controlling sickle cell disease in Ghana ethics and options

    African Journals Online (AJOL)

    raoul

    2011-10-03

    Oct 3, 2011 ... Sickle Cell Disease (SCD) refers to a group of conditions characterized by ... reflects the interaction between individual biology and environmental factors. .... autonomy, genetic counseling should be non-directive; but is this realistic? .... The risks versus benefits of prenatal diagnosis and selective abortion.

  4. Prevalence and burden of Sickle Cell Disease among ...

    African Journals Online (AJOL)

    Background: Sickle cell disease (SCD) is the most common form of haemoglobin opathy in Nigeria but there is paucity of data for its effects on undergraduate students in universities despite the fact that this population of people suffer more burdens of the disease due to relative lack of parental care and their recently ...

  5. Left ventricular systolic function in sickle cell anaemia: an ...

    African Journals Online (AJOL)

    Keywords: Left ventricular systolic function, sickle cell anaemia, echocardiographic evaluation, adult Nigerian patients. ..... Quadratic .505. -0.390. 12.231. 8.587 .001*. Cubic .510. -0.180. 8.264. 8.619 .001*. This relationship was further evaluated by means of scat- ter plots and subsequently by regression analysis. The.

  6. knowledge, attitude and control practices of sickle cell disease

    African Journals Online (AJOL)

    2009-04-01

    Apr 1, 2009 ... psychological, financial and social burden on patients, their care-givers and society at large. Furthermore, there are very few centres with facilities for prenatal diagnosis in Nigeria.24 Suffice to say that current control measures of sickle cell disease in Nigeria are palpably meager in the face of the enormous ...

  7. Soluble CD163 levels in children with sickle cell disease

    DEFF Research Database (Denmark)

    Møller, Holger Jon; Nielsen, Marianne Jensby; Bartram, Jack

    2011-01-01

    Sickle cell disease (SCD) is characterized by vasculopathy, which has been causally linked to intravascular haemolysis and high levels of free plasma haemoglobin. Soluble CD163 (sCD163) is implicated in the clearance of free plasma haemoglobin and high plasma concentrations have been linked to ar...

  8. Cerebral blood flow in sickle cell cerebrovascular disease

    International Nuclear Information System (INIS)

    Huttenlocher, P.R.; Moohr, J.W.; Johns, L.; Brown, F.D.

    1984-01-01

    Cerebral blood flow (CBF) has been studied by the xenon-133 ( 133 Xe) inhalation method in 16 children with suspected sickle cell cerebrovascular disease. Abnormalities consisting of decreases in total, hemispheral, or regional CBF were found in 17 of 26 studies. Eleven studies performed immediately after stroke, transient ischemic attack, or depression of state of alertness showed abnormalities. In addition to confirming regional cerebrovascular insufficiency in children with stroke due to major cerebral artery occlusion, the method detected diffuse decrease in CBF in children with stupor, coma, and seizures who had normal angiographic findings. In contrast, six of seven studies obtained after exchange transfusion or during maintenance on hypertransfusion therapy showed normal findings. The difference between results in patients with acute neurologic disturbances and those receiving transfusion therapy was statistically significant (P less than .005). The data indicate that the 133 Xe method reliably demonstrates cerebrovascular impairment in sickle cell disease. They also suggest that CBF changes in patients with sickle cell disease can be reversed by exchange transfusion and by hypertransfusion therapy. The 133 Xe CBF method may be useful for following up children with sickle cell disease who are at high risk for recurrent stroke

  9. Left ventricular systolic function in sickle cell anaemia: an ...

    African Journals Online (AJOL)

    42) and 24.17 ± 4.39 ... Aortic root diameter (Ao), left atrial dimension (LAD), left ventricu- ... Key: *Statistically significant, a= Chi-square, SCA= sickle cell anaemia, SD= standard deviation. ..... of fluctuations in response to changes in sympathetic.

  10. Is renal medullary carcinoma the seventh nephropathy in sickle cell ...

    African Journals Online (AJOL)

    Introduction: Previous studies had enlisted renal medullary carcinoma (RMC) as the seventh nephropathy in sickle cell disease (SCD). Clinical experience has contradicted this claim and this study is targeted at refuting or supporting this assumption. Objective: To estimate the prevalence of RMC and describe other renal ...

  11. Transfusion Related Hepatitis C Virus (HCV) Infection in Sickle Cell ...

    African Journals Online (AJOL)

    Rev Olaleye

    ABSTRACT: This study aimed to determine retrospectively, the prevalence of hepatitis C virus infection in relation to a background history of blood transfusion; through anti HCV antibody screening test, amongst adult sickle cell disease patients. Anti HCV antibody was tested for in the serum of 92 consecutively selected ...

  12. Transfusion associated hepatitis B virus infection among sickle cell ...

    African Journals Online (AJOL)

    Background: Transfusion of blood products is a recognised way of transmitting infections particularly viruses. The extent to which blood transfusion contributes to hepatitis B virus (HBV) infections in transfused patients with sickle cell anaemia (SCA) has been found to be 20% in Lagos, Nigeria. Mamman in Zaria however ...

  13. Autopsy findings and pattern of mortality in Nigerian sickle cell ...

    African Journals Online (AJOL)

    Introduction: Sickle Cell Disease (SCD) has a high mortality rate in the environment where we practice. There is lack of contemporal autopsy studies describing causes of death among SCD patients at our centre. Methods: This is a retrospective study of SCD patients who died between January 1991 and December 2008 ...

  14. Addiction or pseudoaddiction in sickle cell disease patients: Time to ...

    African Journals Online (AJOL)

    Objective: The objective of this report is to highlight the background factors associated with opioid abuse among Sickle Cell Disease (SCD) patients. Patients: Eleven patients aged 13-53 years (mean, 26.1yrs) which included six female and five male were seen in the last six year at a tertiary health facility. The modes of ...

  15. Sickle cell disease clinical phenotypes in children from South ...

    African Journals Online (AJOL)

    2014-07-20

    Jul 20, 2014 ... Background:The clinical phenotypes of children with sickle cell disease (SCD) are poorly described in many sub-Saharan countries ..... World Health Organization. ... apps.who.int/gb/ebwha/pdf_files/WHA59/A59_9‑en.pdf.

  16. Controlling sickle cell disease in Ghana ethics and options | Edwin ...

    African Journals Online (AJOL)

    Sickle Cell Disease (SCD) is a significant public health burden in Ghana. Recent studies indicate that 2% of Ghanaian newborns are affected by SCD; one in three Ghanaians has the hemoglobin S and/or C gene. As a means of controlling the disease, some authorities have recommended prenatal diagnosis (PND) and ...

  17. Traumatic central retinal artery occlusion with sickle cell trait.

    Science.gov (United States)

    Sorr, E M; Goldberg, R E

    1975-10-01

    An 8-year-old black boy with sickle cell trait struck his left brow and globe on the edge of a table and had immediate blurring of vision. Six days later visual acuity was light projection, and traumatic iritis with secondary glaucoma and perimacular edema were present. Fluorescein angiography indicated obstructed peripheral and perimacular arterioles and dye leakage from the disk.

  18. Sight threatening retinopathy in a child with sickle cell &beta ...

    African Journals Online (AJOL)

    Sight threatening changes in the retina are a well-recognized complication of sickle cell disease (SCD). However they usually occur in older patients with Haemoglobin SC or Sβ+thal patterns. It is rarely found under the age of 20 years in patients who are Hb SS or Sβ<°thal. This is a report of sight threatening retinopathy in ...

  19. Coinheritance of Β-Thalassemia and Sickle Cell Anaemia

    African Journals Online (AJOL)

    GB

    2016-11-06

    Nov 6, 2016 ... ABSTRACT. BACKGROUND: Genes for haemoglobin S are found in high frequencies in Nigeria. However, there is little information on beta thalassemia in sickle cell anaemia in this population. The clinical presentation of HbS- β thalassemia is enormously variable, ranging from an asymptomatic state to a ...

  20. Does Niprisanฎ Retard the Evolution of Sickle Cell Retinopathy?

    African Journals Online (AJOL)

    Objective: To investigate the efficacy of Niprisan®, an antisickling agent, in the management of sickle cell retinopathy. Methods: The study was designed as a phase IIb double-blind, placebo-controlled crossover trial. Eighty-eight patients aged between 5 and 36 years (mean 15.3 years) were randomized into 2 treatment ...