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Sample records for sickle cell mutation

  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: 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…

  3. 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 ...

  4. 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.

  5. "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.

  6. 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 ...

  7. 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 ...

  8. 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: ...

  9. Effect of Hereditary Hemochromatosis Gene H63D and C282Y Mutations on Iron Overload in Sickle Cell Disease Patients

    Directory of Open Access Journals (Sweden)

    Yunus Kasım Terzi

    2016-12-01

    Full Text Available Objective: Hemochromatosis is an autosomal recessive disease that is one of the most important reasons for iron overload. Sickle cell disease is a hemoglobinopathy that occurs as a result of a homozygous mutation in the hemoglobin gene. Erythrocyte transfusion is frequently used in the treatment of this disease. Iron overload as a result of transfusion is important in the mortality and morbidity of sickle cell anemia patients as well as in other hemoglobinopathies. In this study, the effect of hemochromatosis gene (HFE p.H63D and p.C282Y mutations on transfusion-related cardiac and liver iron overload in sickle cell disease patients who carry homozygous hemoglobin S mutation has been investigated. Materials and Methods: This is a prospective single-center crosssectional study in patients with homozygous hemoglobin S mutation between the years 2008 and 2013. The patients were divided into two groups. The first group (group A, n=31 was receiving chelation therapy and the second group (group B, n=13 was not. Direct and indirect iron loads were analyzed by magnetic resonance imaging and biochemically, respectively. HFE gene mutations were analyzed by polymerase chain reaction-restriction fragment length polymorphism method. Statistical analyses were performed by independent samples t-test. Results: p.H63D mutation was detected in 10 (32.3% patients in group A and in only 1 patient (7.7% in group B. When the 2 groups were compared for iron overload, iron deposition in the liver was significantly higher in group B (p=0.046. In addition, in group A, iron deposition was significantly higher in HFE mutation carriers compared to patients without the mutation (p=0.05. Conclusion: Results of this study showed that HFE gene mutations are important in iron deposition in the liver in patients with sickle cell disease.

  10. 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 ...

  11. 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 ...

  12. 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.…

  13. 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

  14. 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.

  15. 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 ...

  16. 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.

  17. 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.

  18. 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.

  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. 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.

  1. 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.

  2. 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.)

  3. 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.

  4. 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.

  5. Sickle Cell Tests

    Science.gov (United States)

    ... Disorders Fibromyalgia Food and Waterborne Illness Fungal Infections Gout Graves Disease Guillain-Barré Syndrome Hashimoto Thyroiditis Heart ... predominant hemoglobin shortly after birth. Mutations in the genes that code for the production of hemoglobin can ...

  6. 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)

  7. 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

  8. 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 ...

  9. 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

  10. 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.

  11. 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)

  12. 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

  13. 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.

  14. 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.

  15. 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 ...

  16. 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

  17. 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.

  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. 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.

  20. 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.

  1. 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

  2. Hereditary Persistence of Fetal Hemoglobin Caused by Single Nucleotide Promoter Mutations in Sickle Cell Trait and Hb SC Disease.

    Science.gov (United States)

    Akinbami, Anthony O; Campbell, Andrew D; Han, Zeqiu J; Luo, Hong-Yuan; Chui, David H K; Steinberg, Martin H

    2016-01-01

    Hereditary persistence of fetal hemoglobin (HPFH) can be caused by point mutations in the γ-globin gene promoters. We report three rare cases: a child compound heterozygous for Hb S (HBB: c.20A > T) and HPFH with a novel point mutation in the (A)γ-globin gene promoter who had 42.0% Hb S, 17.0% Hb A and 38.0% Hb F; a man with Hb SC (HBB: c.19G > A) disease and a point mutation in the (G)γ-globin gene promoter who had 54.0% Hb S, 18.0% Hb C and 25.0% Hb F; a child heterozygous for Hb S and HPFH due to mutations in both the (A)γ- and (G)γ-globin gene promoters in cis [(G)γ(A)γ(β(+)) HPFH], with 67.0% Hb A, 6.5% Hb S and 25.0% Hb F.

  3. 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 ...

  4. 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

  5. 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.

  6. 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 ...

  7. 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 ...

  8. 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 ...

  9. 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

  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. 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.

  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. 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.

  15. 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.

  16. 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.

  17. 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( ...

  18. 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.…

  19. 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…

  20. 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 ...

  1. 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.

  2. 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.

  3. 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.)

  4. 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 ...

  5. 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.

  6. Detection of Sickle Cell Hemoglobin in Haiti by Genotyping and Hemoglobin Solubility Tests

    Science.gov (United States)

    Carter, Tamar E.; von Fricken, Michael; Romain, Jean R.; Memnon, Gladys; St. Victor, Yves; Schick, Laura; Okech, Bernard A.; Mulligan, Connie J.

    2014-01-01

    Sickle cell disease is a growing global health concern because infants born with the disorder in developing countries are now surviving longer with little access to diagnostic and management options. In Haiti, the current state of sickle cell disease/trait in the population is unclear. To inform future screening efforts in Haiti, we assayed sickle hemoglobin mutations using traditional hemoglobin solubility tests (HST) and add-on techniques, which incorporated spectrophotometry and insoluble hemoglobin separation. We also generated genotype data as a metric for HST performance. We found 19 of 202 individuals screened with HST were positive for sickle hemoglobin, five of whom did not carry the HbS allele. We show that spectrophotometry and insoluble hemoglobin separation add-on techniques could resolve false positives associated with the traditional HST approach, with some limitations. We also discuss the incorporation of insoluble hemoglobin separation observation with HST in suboptimal screening settings like Haiti. PMID:24957539

  7. 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.

  8. 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.

  9. 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.

  10. 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

  11. 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

  12. 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

  13. 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.

  14. [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.

  15. 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.)

  16. 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

  17. '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.

  18. 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.

  19. 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.

  20. 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

  1. 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 ...

  2. 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.…

  3. 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 ...

  4. 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 ...

  5. Myonecrosis in Sickle Cell Anemia—Overlooked and Underdiagnosed

    Directory of Open Access Journals (Sweden)

    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.

  6. 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,…

  7. 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.

  8. 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.

  9. 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...

  10. 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, ...

  11. 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 ...

  12. 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 ...

  13. 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.

  14. 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 ...

  15. 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.

  16. 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.

  17. 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

  18. 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.

  19. 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.

  20. 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

  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. 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 ...

  3. 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 ...

  4. Hematological differences between patients with different subtypes of sickle cell disease on hydroxyurea treatment

    Directory of Open Access Journals (Sweden)

    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.

  5. 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.

  6. 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 ...

  7. 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

  8. 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)

  9. 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.

  10. 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)

  11. 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.)

  12. 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

  13. 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 ...

  14. 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

  15. 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.

  16. 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.

  17. 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

  18. 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.

  19. 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.

  20. 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 ...

  1. 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.

  2. 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 ...

  3. 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.

  4. 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.

  5. 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.

  6. 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.

  7. 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.

  8. 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

  9. 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...

  10. 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

  11. 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.

  12. 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

  13. 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.

  14. The super sickling haemoglobin HbS-Oman: a study of red cell sickling, K+ permeability and associations with disease severity in patients heterozygous for HbA and HbS-Oman (HbA/S-Oman genotype).

    Science.gov (United States)

    Al Balushi, Halima W M; Wali, Yasser; Al Awadi, Maha; Al-Subhi, Taimoora; Rees, David C; Brewin, John N; Hannemann, Anke; Gibson, John S

    2017-10-01

    Studying different sickle cell genotypes may throw light on the pathogenesis of sickle cell disease (SCD). Here, the clinical profile, red cell sickling and K + permeability in 29 SCD patients (15 patients with severe disease and 14 with a milder form) of HbA/S-Oman genotype were analysed. The super sickling nature of this Hb variant was confirmed. The red cell membrane permeability to K + was markedly abnormal with elevated activities of P sickle , Gardos channel and KCl cotransporter (KCC). Results were consistent with Ca 2+ entry and Mg 2+ loss via P sickle stimulating Gardos channel and KCC activities. The abnormal red cell behaviour was similar to that in the commonest genotype of SCD, HbSS, in which the level of mutated Hb is considerably higher. Although activities of all three K + transporters also correlated with the level of HbS-Oman, there was no association between transport phenotype and disease severity. The super sickling behaviour of HbS-Oman may obviate the need for solute loss and red cell dehydration to encourage Hb polymerisation, required in other SCD genotypes. Disease severity was reduced by concurrent α thalassaemia, as observed in other SCD genotypes, and represents an obvious genetic marker for prognostic tests of severity in young SCD patients of the HbA/S-Oman genotype. © 2017 John Wiley & Sons Ltd.

  15. Mathematical modeling of erythrocyte chimerism informs genetic intervention strategies for sickle cell disease.

    Science.gov (United States)

    Altrock, Philipp M; Brendel, Christian; Renella, Raffaele; Orkin, Stuart H; Williams, David A; Michor, Franziska

    2016-09-01

    Recent advances in gene therapy and genome-engineering technologies offer the opportunity to correct sickle cell disease (SCD), a heritable disorder caused by a point mutation in the β-globin gene. The developmental switch from fetal γ-globin to adult β-globin is governed in part by the transcription factor (TF) BCL11A. This TF has been proposed as a therapeutic target for reactivation of γ-globin and concomitant reduction of β-sickle globin. In this and other approaches, genetic alteration of a portion of the hematopoietic stem cell (HSC) compartment leads to a mixture of sickling and corrected red blood cells (RBCs) in periphery. To reverse the sickling phenotype, a certain proportion of corrected RBCs is necessary; the degree of HSC alteration required to achieve a desired fraction of corrected RBCs remains unknown. To address this issue, we developed a mathematical model describing aging and survival of sickle-susceptible and normal RBCs; the former can have a selective survival advantage leading to their overrepresentation. We identified the level of bone marrow chimerism required for successful stem cell-based gene therapies in SCD. Our findings were further informed using an experimental mouse model, where we transplanted mixtures of Berkeley SCD and normal murine bone marrow cells to establish chimeric grafts in murine hosts. Our integrative theoretical and experimental approach identifies the target frequency of HSC alterations required for effective treatment of sickling syndromes in humans. Our work replaces episodic observations of such target frequencies with a mathematical modeling framework that covers a large and continuous spectrum of chimerism conditions. Am. J. Hematol. 91:931-937, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  16. 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.

  17. 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

  18. 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 ...

  19. 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 ...

  20. 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.

  1. [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.

  2. Successful application of preimplantation genetic diagnosis for beta-thalassaemia and sickle cell anaemia in Italy.

    Science.gov (United States)

    Chamayou, S; Alecci, C; Ragolia, C; Giambona, A; Siciliano, S; Maggio, A; Fichera, M; Guglielmino, A

    2002-05-01

    In Italy, the autosomal recessive diseases beta-thalassaemia and sickle cell anaemia are so widespread that in some regions they can be defined as 'social diseases'. In this study, nine clinical applications of preimplantation genetic diagnosis (PGD) were performed for beta-thalassaemia and sickle cell anaemia on seven Sicilian couples and carriers of beta-globin gene mutations. The studied mutations were: Cd39, HbS, IVS1 nt1, IVS1 nt6 and IVS1 nt110. ICSI was performed with partner's sperm on 131 out of 147 retrieved oocytes, and this resulted in 72 zygotes; 32 embryos were successfully biopsied on day 3. The biopsied blastomeres were lysed and the beta-globin alleles amplified by nested PCR. The mutation diagnosis was performed by restriction enzyme digestion and reverse dot-blot. The amplification efficacy was 97.2%. The genotype study of non-transferred and surplus embryos showed that the allele drop-out rate was 8.6%. Seventeen embryos were transferred in utero on day 4. All couples received an embryo transfer; of the four pregnancies obtained, three resulted in live births and one miscarried at 11 weeks. Prenatal diagnosis at the 11th week and miscarriage material analysis confirmed the PGD results. These studies represent the first successful application of PGD for beta-thalassaemia and sickle cell anaemia in Italy.

  3. 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.

  4. A rare case of avascular necrosis in sickle cell trait: a case report.

    Science.gov (United States)

    Sanders, William J

    2018-01-01

    Sickle cell trait is usually an asymptomatic presentation of a patient with slightly different hemoglobin molecule makeup than normal. It is similar to a more serious disease, sickle cell disease, in which a person's hemoglobin is mutated in such a way that causes their red blood cells to easily change shape in certain environmental and internal states; this causes red blood cells to adhere to the walls and occlude the lumen of the arteries in which they travel, leading to downstream effects secondary to ischemia. Sickle cell trait does not have these ischemic effects, usually. In this case, a young African American female patient presents to the clinic with severe right hip pain. Her past medical history includes sickle cell trait and asthma. She has not been symptomatic of her asthma for years and is not on therapy for it. The pain has lasted for several months and has not improved with anti-inflammatory medication. There is severe pain with internal and external rotation of the hip. The neurovascularity of the lower extremities is intact bilaterally. MRI of the femur shows stage 2 or 3 avascular necrosis of the femoral head, while X-rays of the femur are unremarkable. Non weight-bearing for several weeks was unsuccessful; shortly thereafter, the patient underwent core decompression of the right femoral head as well as starting bisphosphonates. The patient improved temporarily but regressed shortly thereafter. Her avascular necrosis worsened radiographically over the next several months. At this point, the only other option would be to do a total hip arthroplasty, but the patient may need several more throughout her lifetime due to the lifespan of the artificial replacement. There have only been scarce reports of avascular necrosis in patients with sickle cell trait. This manuscript presents such a case and includes the trials and tribulations associated with its management.

  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. 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.

  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. 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.

  9. 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.

  10. 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.

  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. ''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.)

  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. [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.

  18. 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.)

  19. 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

  20. 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.

  1. 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 ...

  2. 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 ...

  3. 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.

  4. 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.

  5. 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

  6. 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.

  7. Influence of genetic polymorphisms and mutations in the cardiac pathology of iron overload in thalassemia and sickle cell anemia patients: a retrospective study

    Directory of Open Access Journals (Sweden)

    Veronica Agrigento

    2012-11-01

    Full Text Available Cardiac disease in thalassemia is determined by the accumulation of iron in the tissue. Genetic factors could influence the severity and the rapidity of the modifications of the cardiac tissue. Mutations or polymorphisms of genes have already been described as being implicated in cardiac disease. In particular, we studied the polymorphisms C1091T in the Connexin 37 gene (CX 37, 4G -668 5G in the Plasminogen Activator Inhibitor-1 gene (PAI 1 and 5A-1171 6A in the Stromelysin-1 gene (SL in 193 randomly selected patients affected by hemoglobinopathies and 100 normal subjects randomly selected from the general population. A retrospective analysis based on history, clinical data and imaging studies was carried out to assess the presence and type of heart disease. The results of our study do not demonstrate a close association between polymorphism in these candidate genes and cardiac disease, and in particular with myocardial infarction in a cohort of Sicilian patients affected by hemoglobinopathies. 地中海贫血心脏病的关键诱因是组织中的铁沉积。遗传因子可能影响心脏组织修复的严重程度和速度。基因突变或基因多态性与心脏病有关。尤其是,我们研究了193名随机选择的血红蛋白病患者以及从普通人群中随机选择的100名正常受试者的连接蛋白37基因(CX37)的C1091T、纤溶酶原激活物抑制剂-1基因(PAI1)的4G -668 5G 和基质分解素-1基因(SL)的5A-1171 6A等多态性。根据病史、临床资料和影像研究进行回顾性分析,以评估心脏病的存在情况和类型。我们的研究结果并没有表明这些候选基因的多态性和心脏疾病之间存在密切联系,尤其是与一组西西里岛血红蛋白病患者的心肌梗塞存在密切联系。

  8. 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.

  9. 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 ...

  10. 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.

  11. 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.

  12. 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.

  13. 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.

  14. 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 ...

  15. 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...

  16. 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.

  17. 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

  18. 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.

  19. 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 ...

  20. 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.

  1. 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 ...

  2. 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 ...

  3. 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 ...

  4. 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 ...

  5. 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.

  6. 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 ...

  7. 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.

  8. 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.

  9. 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.

  10. 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)

  11. 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 ...

  12. 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 ...

  13. 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 ...

  14. Occurrence of haemolysin antibodies among sickle cell anaemia ...

    African Journals Online (AJOL)

    SERVER

    2007-05-16

    May 16, 2007 ... A total of 50 normal controls and 54 SCA patients attending the sickle cell clinic of the. University of Calabar Teaching Hospital, Cross River State of Nigeria, were screened for haemolysins and quantitated using standard techniques. The distribution of haemolysins in the SCA patients was α. (16.7), β (11.1) ...

  15. Impact of Undertreated Sickle Cell Pain in the Caribbean

    Directory of Open Access Journals (Sweden)

    PD Shah

    2014-09-01

    Full Text Available Objective: Undertreated pain around the world includes the acute and chronic pain caused by sickle cell disease (SCD. In collaboration with a Caribbean association that aims to provide assistance to those diagnosed with SCD, we surveyed adults with SCD about pain management and impact of SCD pain. Methods: Participants were recruited from a group of 55 adults with SCD. A survey was administered to those who agreed to participate. Questions centred on their self-assessed level of pain due to SCD, the extent to which that pain interferes with daily activities, and how they seek and obtain pain relief. Results: Responses were received from 39 participants (female: n = 28, 72%, male: n = 11, 28%; mean age: 31.6 (SD ± 13.7 years. Sickle cell disease pain significantly disrupts participants’ daily activities (62%, mood (72%, work (64% and sleep (69%. Prescription medicine was ineffective for 41% and about half (n = 19 sought alternate means of relief. Conclusion: Sickle cell disease pain is undertreated in the Caribbean, disrupts daily activities and affects quality of life by impinging on education, employment and marital status. Sickle cell disease and other types of pain can be clinically managed safely, effectively and inexpensively. By failing to palliate and overcome the problem of undertreated pain, healthcare systems and providers contribute to socio-economic amongst other repercussions for sufferers, their families and caregivers, and their nations.

  16. Perceptions about Sickle Cell Disease and its Prevention among ...

    African Journals Online (AJOL)

    Perceptions about Sickle Cell Disease and its Prevention among ... Methods Three hundred undergraduate students from Bayero University Kano and Federal ... about SCD prevention to youths in schools and through other media; as well as strengthen prenatal screening and premarital counseling and testing services.

  17. Paediatric cardiac anaesthesia in sickle cell disease: a case series

    African Journals Online (AJOL)

    Paediatric patients with SCD and congenital heart defects may require ... Patients with sickle cell disease (SCD) presenting for cardiac ... fluid, calculated according to body weight, was initiated. ... oxygen mixture and intravenous fentanyl (5–10 mcg/kg) and .... erythropoiesis, and in this way reduces HbS production.

  18. Cardiac Arrhythmias in Children with Sickle Cell Anaemia | Bode ...

    African Journals Online (AJOL)

    Background : Sickle cell anaemia (SCA) is an important cause of morbidity and mortality in tropical Africa. Recurrent episodes of vaso-occlusive crisis often lead to organ ischaemia and/or infarction. Arrythmias are common and reliable manifestations of myocardial ischaemia and often follow infarction. The prevalence and ...

  19. Hydroxyurea therapy in adult Nigerian sickle cell disease: a ...

    African Journals Online (AJOL)

    Background: The clinical prospects of hydroxyurea therapy in the management of sickle cell disease (SCD) require evaluation in the Nigerian setting to develop indigenous guidelines. This survey examines the pattern of hydroxyurea therapy, its clinico-haematologic benefits and safety profile in Nigerian SCD subjects.

  20. Prevalence of Sickle Cell Trait and Glucose 6 Phosphate ...

    African Journals Online (AJOL)

    Blood donation from sickle cell trait (SCT) and glucose-6-phosphate dehydrogenase (G6PD)-deficient donors might alter the quality of the donated blood during processing, storage or in the recipients' circulatory system. The aim of this study was to determine the prevalence of SCT and G6PD deficiency among blood ...

  1. Can children with sickle cell disease undergo open splenectomy ...

    African Journals Online (AJOL)

    We report three children with sickle cell anaemia presenting with chronic massive splenomegaly and hypersplenism. The children were initially denied surgery because of extremely low haemoglobin levels and the inefficacy of transfusion. Subsequently, they underwent successful open abdominal splenectomy without any ...

  2. addiction or pseudoaddiction in sickle cell disease patients

    African Journals Online (AJOL)

    2015-06-01

    Jun 1, 2015 ... of its use in the management of pain in this disorder is an issue of debate ... the use of opioid in chronic sickle cell pain and provide alternatives and a suitable guideline .... McCarberg B, Stantos S. Key patient assessment tools and treatment strategies for pain manage- ment. ... R Coll Surg Edinburgh. 1980 ...

  3. PYOMYOSITIS IN SICKLE-CELL DISEASE - AN UNEXPECTED DIAGNOSIS

    NARCIS (Netherlands)

    SMID, WM; BREUKELMAN, F; KONINGS, JG; DAENEN, S

    Pyomyositis is a pyogenic infection of muscle, leading to abscess formation. Pyomyositis is frequent in tropical areas but uncommon in areas with a temperate climate [4]; therefore, diagnosis can be difficult and can be delayed [6]. Sickle cell disease (SCD) can be complicated by vascular occlusion

  4. Malevolent ogbanje: recurrent reincarnation or sickle cell disease?

    Science.gov (United States)

    Nzewi, E

    2001-05-01

    The Igbo of Nigeria believe that everyone is ogbanje (reincarnates) but malevolent ogbanje differ from others in being revenge-driven, chronically ill and engaging in repeated cycles of birth, death and reincarnation. This study examined culturally defined symptoms of 100 children classified as malevolent ogbanje; and investigated their family history and child mortality experience. There was concordance between cultural descriptions of malevolent ogbanje and symptoms as manifested in sickle cell patients. Hemoglobin analysis showed that 70 of the 100 children had sickle cell disease (SCD); while 68 families had death-related names. The symptoms associated with Igbo cases of reincarnation, high child mortality rates, and the high prevalence of sickle cell disease among children classified as malevolent ogbanje all support the conclusion that the symptomatology and early mortality experience are related to sickle cell. Names with themes of death were prevalent in families of children described as malevolent ogbanje. The findings are discussed with reference to cultural resistance to SCD as an explanation for malevolent ogbanje and the implications for the health care of children with SCD in Nigeria.

  5. Glomerular function in sickle cell disease patients during crisis.

    Science.gov (United States)

    Aderibigbe, A; Arije, A; Akinkugbe, O O

    1994-06-01

    An 8 month prospective study was carried out in 20 adult sickle cell disease (SCD) patients 16 sickle cell anaemia (Hbss) and 4 sickle cell Hbc disease (Hbsc); who had vaso-occlusive crises within the study period to determine the extent of the effect of sickle cell crisis on glomerular function in SCD patients during crisis. The male: female ratio was 1:57 and their mean age was 21.1 +/- 7.9 years. Creatinine clearance (CCr), as an index of glomerular function, was determined at the pre-crisis, crisis, 2 and 4 weeks post-crisis and at the end of the study period. The mean values of their CCr dropped from 113.37 +/- 33.80mls/min at pre-crisis stage to 96.39 +/- 30.13mls/min during crisis (p pre-crisis stage (p > 0.05). It is concluded that glomerular dysfunction in SCD patients during crisis is potentially reversible.

  6. Controversial report on sickle cell trait in Manipur, India

    African Journals Online (AJOL)

    Maishnam Rustam Singh

    2012-12-28

    Dec 28, 2012 ... I read with concern the article by Shah et al. [1] entitled. 'Gene Frequency of Sickle Cell Trait among Muslim Popula- tions in a Malarial belt of India, i.e., Manipur' published in your esteemed journal. However, I found many ambiguities in it. I would like to make the following comments on this article.

  7. 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 ...

  8. 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 ...

  9. 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, ...

  10. 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 ...

  11. 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 ...

  12. 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.

  13. Treatment of dental complications in sickle cell disease.

    Science.gov (United States)

    Mulimani, Priti; Ballas, Samir K; Abas, Adinegara B L; Karanth, Laxminarayan

    2016-04-22

    Sickle cell disease is the most common single gene disorder and the commonest haemoglobinopathy found with high prevalence in many populations across the world. Management of dental complications in people with sickle cell disease requires special consideration for three main reasons. Firstly, dental and oral tissues are affected by the blood disorder resulting in several oro-facial abnormalities. Secondly, living with a haemoglobinopathy and coping with its associated serious consequences may result in individuals neglecting their oral health care. Finally, the treatment of these oral complications must be adapted to the systemic condition and special needs of these individuals, in order not to exacerbate or deteriorate their general health.Guidelines for the treatment of dental complications in this population who require special care are unclear and even unavailable in many aspects. Hence this review was undertaken to provide a basis for clinical care by investigating and analysing the existing evidence in the literature for the treatment of dental complications in people with sickle cell disease. To assess methods of treating dental complications in people with sickle cell disease. We searched the Cochrane Haemoglobinopathies Trials Register, compiled from electronic database searches and handsearching of journals and conference abstract books.Date of last search: 11 April 2016.Additionally, we searched nine online databases (PubMed, Google Scholar, ClinicalTrials.gov, WHO International Clinical Trials Registry Platform, Literature in the Health Sciences in Latin America and the Caribbean database, African Index Medicus, Index Medicus for South East Asia Region, Index Medicus for the Eastern Mediterranean Region, Indexing of Indian Medical Journals). We also searched the reference lists of relevant articles and reviews and contacted haematologists, experts in fields of dentistry, organizations, pharmaceutical companies and researchers working in this field

  14. Community Health Workers as Support for Sickle Cell Care

    Science.gov (United States)

    Hsu, Lewis L.; Green, Nancy S.; Ivy, E. Donnell; Neunert, Cindy; Smaldone, Arlene; Johnson, Shirley; Castillo, Sheila; Castillo, Amparo; Thompson, Trevor; Hampton, Kisha; Strouse, John J.; Stewart, Rosalyn; Hughes, TaLana; Banks, Sonja; Smith-Whitley, Kim; King, Allison; Brown, Mary; Ohene-Frempong, Kwaku; Smith, Wally R.; Martin, Molly

    2016-01-01

    Community health workers are increasingly recognized as useful for improving health care and health outcomes for a variety of chronic conditions. Community health workers can provide social support, navigation of health systems and resources, and lay counseling. Social and cultural alignment of community health workers with the population they serve is an important aspect of community health worker intervention. Although community health worker interventions have been shown to improve patient-centered outcomes in underserved communities, these interventions have not been evaluated with sickle cell disease. Evidence from other disease areas suggests that community health worker intervention also would be effective for these patients. Sickle cell disease is complex, with a range of barriers to multifaceted care needs at the individual, family/friend, clinical organization, and community levels. Care delivery is complicated by disparities in health care: access, delivery, services, and cultural mismatches between providers and families. Current practices inadequately address or provide incomplete control of symptoms, especially pain, resulting in decreased quality of life and high medical expense. The authors propose that care and care outcomes for people with sickle cell disease could be improved through community health worker case management, social support, and health system navigation. This report outlines implementation strategies in current use to test community health workers for sickle cell disease management in a variety of settings. National medical and advocacy efforts to develop the community health workforce for sickle cell disease management may enhance the progress and development of “best practices” for this area of community-based care. PMID:27320471

  15. Laparoscopic cholecystectomy in sickle cell patients in Niger

    Directory of Open Access Journals (Sweden)

    Abarchi Habibou

    2009-12-01

    Full Text Available BACKGROUND: We report the results of our experience on laparoscopic cholecystectomy in sickle cell disease patients in Niger, which is included in the sickle cell belt. METHODS: A prospective study covering a period of 45 months, from July 2004 to March 2008. We included all sickle cell disease patients that underwent laparoscopic cholecystectomy. Blood transfusion was done for patients with haemoglobin (Hb levels less than 9g/dl. Homozygous and composite heterozygous patients were admitted in intensive care unit for 24 hours or plus post operatively. RESULTS:The series included 47 patients operated by the same surgeon, 31 females (66% and 16 males (34% (Ratio: 0.51. The average age was 22.4 years (range: 11 to 46 years and eleven (23.4% of them were aged less than 15 years. The types of sickle cell disease found were 37 SS, 2 SC, 1 S beta-thalassemia and 7 AS. Indications for surgery were biliary colic in 29 cases (61.7% and acute cholecystitis in 18 cases (38.3%. The mean operative time was 64 min (range: 42 to 103 min. Conversion to open cholecystectomy in 2 cases (4.2 % for non recognition of Calot‘s triangle structures. The postoperative complications were: four (4 cases of vaso-occlusive crisis and one case of acute chest syndrome. The mean postoperative hospital stay was 3,5days (range: 1 to 9 days. No mortality was encountered. CONCLUSION: Laparoscopic cholecystectomy is a safe procedure in sickle cell patients. It should be a multidisciplinary approach and involve a haematologist, an anaesthesiologist and a surgeon.

  16. Sickle cell children traveling abroad: primary risk is infection.

    Science.gov (United States)

    Runel-Belliard, Camille; Lesprit, Emmanuelle; Quinet, Béatrice; Grimprel, Emmanuel

    2009-01-01

    Pediatricians taking care of sickle cell children in France are concerned about giving travel advice. Very few articles are published and no study has been done about it. A lot of pediatricians are using their own experience to decide if sickle cell children can travel abroad. Studying the consequences of such travel for sickle cell children is important to discuss common recommendations. We conducted a prospective study from June 2006 to December 2007 on desires to travel expressed during our consultations with sickle cell children. We studied notable events that occurred during travel and at least 2 months after return. Of 52 desires to travel, 10 were cancelled. All of the 42 trips were to Africa. Median duration of travel was 1.29 months (0.5-3). Median age at travel was 7.6 years (0.2-17.7). Events during travel were two hospitalizations (4.8%), a transfusion (2.4%), and four paramedical or medical examinations (9.6%). After return, four events occurred: two SS children had Plasmodium falciparum malaria (4.8%) and two had digestive bacteremia (4.8%) in SC and Sbeta+ children. No event occurred during plane travel. None of our patients died. The primary risk for sickle cell children traveling to Africa is infection: malaria first and digestive septicemia second. These risks are increased by long travel and poor sanitary conditions. Each travel should be prepared a long time before departure, and each pediatrician should insist on malaria prophylaxis and sanitary conditions, especially for young children. Trips should be shorter than 1 month when possible. A longer prospective study will be done to confirm these results.

  17. 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.)

  18. 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.

  19. Sickle cell disease in tribal populations in India.

    Science.gov (United States)

    Colah, Roshan B; Mukherjee, Malay B; Martin, Snehal; Ghosh, Kanjaksha

    2015-05-01

    The sickle gene is widespread among many tribal population groups in India with prevalence of heterozygotes varying from 1-40 per cent. Co-inheritance of the sickle gene with β-thalassaemia, HbD Punjab and glucose-6-phosphate dehydrogenase (G6PD) deficiency has also been reported. Most of the screening programmes in India now use high performance liquid chromatography (HPLC) analysis although the solubility test is also sensitive and cheap. Sickle cell disease (SCD) among tribal populations is generally milder than among non-tribal groups with fewer episodes of painful crises, infections, acute chest syndrome and need for hospitalization. This has partly been attributed to the very high prevalence of α-thalassaemia among these tribes as well as higher foetal haemoglobin levels. However, the clinical presentation is variable with many cases having a severe presentation. There is not much information available on maternal and perinatal outcome in tribal women with sickle cell disease. Newborn screening programmes for SCD have recently been initiated in Maharashtra, Gujarat, Orissa and Chattisgarh and monitoring these birth cohorts will help to understand the natural history of SCD in India. Prenatal diagnosis is acceptable by tribal families in India. The Indian Council of Medical Research and the National Rural Health Mission in different States are undertaking outreach programmes for better management and control of the disease.

  20. 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

  1. Managing acute complications of sickle cell disease in pediatric patients [digest].

    Science.gov (United States)

    Subramaniam, Sathyaseelan; Chao, Jennifer H; Chaudhari, Pradip

    2016-11-22

    Sickle cell disease is a chronic hematologic disease with a variety of acute, and often recurring, complications. Vaso-occlusive crisis, a unique but common presentation in sickle cell disease, can be challenging to manage. Acute chest syndrome is the leading cause of death in patients with sickle cell disease, occurring in more than half of patients who are hospitalized with a vaso-occlusive crisis. Uncommon diagnoses in children, such as stroke, priapism, and transient red cell aplasia, occur more frequently in patients with sickle cell disease and necessitate a degree of familiarity with the disease process and its management. Patients with sickle cell trait generally have a benign course, but are also subject to serious complications. This issue provides a current review of evidence-based management of the most common acute complications of sickle cell disease seen in pediatric patients in the emergency department. [Points & Pearls is a digest of Pediatric Emergency Medicine Practice].

  2. Sickle cell patients are characterized by a reduced glycocalyx volume

    NARCIS (Netherlands)

    van Beers, Edward J.; Nieuwdorp, Max; Duits, Ashley J.; Evers, Ludo M.; Schnog, John-John B.; Biemond, Bart J.

    2008-01-01

    The glycocalyx is an important anti-inflammatory and anti-adhesive barrier at the luminal side of endothelial cells. Glycocalyx volume was significantly reduced in sickle cell patients (HbSS/HbS beta(0)-thalassemia median 0.47L, IQR 0.27-0.66, HbSC/HbS beta(+)-thalassemia 0.23L, 0.0-0.58) compared

  3. PREVALENCE OF SICKLE CELL TRAIT IN THE SOUTHERN SUBURBS OF BEIRUT, LEBANON

    OpenAIRE

    Abdel Badih El Ariss; Mohamad Younes; Jad Matar; Zeina Berjaoui

    2016-01-01

    Objective The objective of this study was to assess the prevalence, gender differences, and time trends of Sickle Cell Trait in the Southern Suburb of Beirut, Lebanon, as well as to highlight the importance of screening for Sickle Cell Trait carriers in this population. Another objective was to describe a new screening technique for Sickle Cell Trait carriers. Methods This was a retrospective cohort study carried out at a private laboratory in the Southern Suburb of Beirut, Lebanon between 20...

  4. Cross-stream distribution of red blood cells in sickle-cell disease

    Science.gov (United States)

    Zhang, Xiao; Lam, Wilbur; Graham, Michael

    2017-11-01

    Experiments revealed that in blood flow, red blood cells (RBCs) tend to migrate away from the vessel walls, leaving a cell-free layer near the walls, while leukocytes and platelets tend to marginate towards the vessel walls. This segregation behavior of different cellular components in blood flow can be driven by their differences in stiffness and shape. An alteration of this segregation behavior may explain endothelial dysfunction and pain crisis associated with sickle-cell disease (SCD). It is hypothesized that the sickle RBCs, which are considerably stiffer than the healthy RBCs, may marginate towards the vessel walls and exert repeated damage to the endothelial cells. Direct simulations are performed to study the flowing suspensions of deformable biconcave discoids and stiff sickles representing healthy and sickle cells, respectively. It is observed that the sickles exhibit a strong margination towards the walls. The biconcave discoids in flowing suspensions undergo a so-called tank-treading motion, while the sickles behave as rigid bodies and undergo a tumbling motion. The margination behavior and tumbling motion of the sickles may help substantiate the aforementioned hypothesis of the mechanism for the SCD complications and shed some light on the design of novel therapies.

  5. 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

  6. Bilateral orbital infarction and retinal detachment in a previously undiagnosed sickle cell hemoglobinopathy African child

    Science.gov (United States)

    Helen, Onakpoya Oluwatoyin; Ajite, K. O.; Oyelami, O. A.; Asaleye, C. M.; Adeoye, A. O.

    2013-01-01

    Bone infarction involving the orbit in sickle cell disease is not common. Bilateral orbital infarction in a previously undiagnosed sickle cell hemoglobinopathy has not been previously reported. In this report, we present a case of an 11-year-old previously undiagnosed sickle cell disease Nigerian girl with severe acute bilateral orbital infarction and retinal detachment to highlight that hemoglobinopathy induced orbital infarction should be considered in African children with acute onset proptosis with or without previous history of sickle cell hemoglobinopathy. PMID:23901183

  7. ENERCA clinical recommendations for disease management and prevention of complications of sickle cell disease in children.

    Science.gov (United States)

    de Montalembert, Mariane; Ferster, Alina; Colombatti, Raffaella; Rees, David C; Gulbis, Beatrice

    2011-01-01

    Universal neonatal screening is performed in the United States, England, the Netherlands, and several cities in Belgium, with selective screening targeted on "high-risk" population in France (globally, one quarter of all the babies born in France are screened). Newborns diagnosed with a major sickle cell syndrome (SCD) should be referred to a designated pediatric sickle cell centre, and the parents are informed that their child has SCD; this may be in the sickle cell centre by an expert physician or in the community by an experienced nurse counsellor. The pediatric sickle cell centre should organize the care of the baby.

  8. Labyrinthitis ossificans in a child with sickle cell disease: CT and MRI findings

    International Nuclear Information System (INIS)

    Liu, Benjamin P.; Saito, Naoko; Wang, Jimmy J.; Mian, Asim Z.; Sakai, Osamu

    2009-01-01

    The association between sensorineural hearing loss and sickle cell disease has been described, and labyrinthine hemorrhage has been reported with sickle cell disease. We report the CT and MRI findings of labyrinthitis ossificans in a child with sickle cell disease who presented with sensorineural hearing loss. Labyrinthitis ossificans is associated with an infectious, inflammatory, or destructive insult to the membranous labyrinth; however, it has not been specifically described with sickle cell disease. Recognition of this condition is important because it affects both management and prognosis of this disease. (orig.)

  9. Cation depletion by the sodium pump in red cells with pathologic cation leaks. Sickle cells and xerocytes.

    OpenAIRE

    Joiner, C H; Platt, O S; Lux, S E

    1986-01-01

    The mechanism by which sickle cells and xerocytic red cells become depleted of cations in vivo has not been identified previously. Both types of cells exhibit elevated permeabilities to sodium and potassium, in the case of sickle cells, when deoxygenated. The ouabain-insensitive fluxes of sodium and potassium were equivalent, however, in both cell types under these conditions. When incubated 18 hours in vitro, sickle cells lost cations but only when deoxygenated. This cation depletion was blo...

  10. Neodymium-YAG laser vitreolysis in sickle cell retinopathy

    Energy Technology Data Exchange (ETDEWEB)

    Hrisomalos, N.F.; Jampol, L.M.; Moriarty, B.J.; Serjeant, G.; Acheson, R.; Goldberg, M.F.

    1987-08-01

    Six patients with proliferative sickle cell retinopathy and vitreous bands were treated with the neodymium-YAG (Nd-YAG) laser to accomplish lysis of avascular traction bands or to clear the media in front of the macula. Transection of bands was possible in five of the six cases but in two of these the effect was only partial. Three cases were satisfactorily treated with the Nd-YAG laser application alone, two eventually required conventional vitreoretinal surgery, and one patient's condition stabilized despite failure of the treatment. Complications from the treatment occurred in three cases and included subretinal (choroidal) hemorrhage, preretinal hemorrhage, microperforation of a retinal vein, and focal areas of damage to the retinal pigment epithelium. Neodymium-YAG vitreolysis may be a useful modality in carefully selected patients with proliferative sickle cell retinopathy, but potentially sight-threatening complications may occur.

  11. Towards safer surgery in patients with sickle cell disease

    International Nuclear Information System (INIS)

    Meshikhes, Abdul-Wahed N.

    2007-01-01

    Surgery in patients with sickle cell disease (SCD) has been associated with high morbidity and mortality. In recent years, a marked improvement in the safety of surgery and anesthesia in this high-risk group of patients has been witnessed; owing to the improvements in surgical and anesthetic care, greater awareness of pathophysiology of disease, proper perioperative preparation and attention to factors predisposing to vasoocclusive crises. However, this is not paralleled by similar improvement in countries where the disease is not prevalent. Greater population mobility in recent years makes recognition of surgical manifestations of the disease and awareness of perioperative management of sickle cell patients undergoing surgical interventions of paramount importance. This article aims to summarize steps towards safer surgery in patients with SCD. (author)

  12. Psychological therapies for sickle cell disease and pain.

    Science.gov (United States)

    Anie, Kofi A; Green, John

    2015-05-08

    Sickle cell disease comprises a group of genetic blood disorders. It occurs when the sickle haemoglobin gene is inherited from both parents. The effects of the condition are: varying degrees of anaemia which, if severe, can reduce mobility; a tendency for small blood capillaries to become blocked causing pain in muscle and bone commonly known as 'crises'; damage to major organs such as the spleen, liver, kidneys, and lungs; and increased vulnerability to severe infections. There are both medical and non-medical complications, and treatment is usually symptomatic and palliative in nature. Psychological interventions for individuals with sickle cell disease might complement current medical treatment, and studies of their efficacy have yielded encouraging results. This is an update of a previously published Cochrane Review. To examine the evidence that psychological interventions improve the ability of people with sickle cell disease to cope with their condition. We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Haemoglobinopathies Trials Register, which comprises references identified from comprehensive electronic database searches and the Internet, handsearches of relevant journals and abstract books of conference proceedings.Date of the most recent search of the Group's Haemoglobinopathies Trials Register: 17 February 2015. All randomised or quasi-randomised controlled trials comparing psychological interventions with no (psychological) intervention in people with sickle cell disease. Both authors independently extracted data and assessed the risk of bias of the included studies. Twelve studies were identified in the searches and seven of these were eligible for inclusion in the review. Five studies, involving 260 participants, provided data for analysis. One study showed that cognitive behaviour therapy significantly reduced the affective component of pain (feelings about pain), mean difference -0.99 (95% confidence interval -1.62 to -0.36), but

  13. 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.

  14. 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...

  15. 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.

  16. 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.

  17. Reactivation of fetal hemoglobin in thalassemia and sickle cell disease

    Directory of Open Access Journals (Sweden)

    Sandro Eridani

    2014-09-01

    Full Text Available Considerable attention has been recently devoted to mechanisms involved in the perinatal hemoglobin switch, as it was long ago established that the survival of fetal hemoglobin (HbF production in significant amount can reduce the severity of the clinical course in severe disorders like β-thalassemia and sickle cell disease (SCD. For instance, when β-thalassemia is associated with hereditary persistence of fetal hemoglobin (HPFH the disease takes a mild course, labeled as thalassemia intermedia. The same clinical amelioration occurs for the association between HPFH and SCD. As for the mechanism of this effect, some information has been obtained from the study of natural mutations at the human β-globin locus in patients with increased HbF, like the Corfu thalassemia mutations. Important evidence came from the discovery that drugs capable of improving the clinical picture of SCD, like decitabine ad hydroxycarbamide, are acting through the reactivation, to some extent, of HbF synthesis. The study of the mechanism of action of these compounds was followed by the identification of some genetic determinants, which promote this event. In particular, among a few genetic factors involved in this process, the most relevant appears the BCL11A gene, which is now credited to be able to silence γ-globin genes in the perinatal period by interaction with several erythroid-specific transcription factors and is actually considered as a barrier to HbF reactivation by known HbF inducing agents. Epigenetics is also a player in the process, mainly through DNA demethylation. This is certified by the recent demonstration that hypomethylating agents such as 5-azacytidine and decitabine, the first compounds used for HbF induction by pharmacology, act as irreversible inhibitors of demethyltransferase enzymes. Great interest has also been raised by the finding that several micro-RNAs, which act as negative regulators of gene expression, have been implicated in the

  18. 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+.

  19. 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.

  20. 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

  1. Prevalence of Sickle Cell Trait in the Southern Suburb of Beirut, Lebanon.

    Science.gov (United States)

    El Ariss, Abdel Badih; Younes, Mohamad; Matar, Jad; Berjaoui, Zeina

    2016-01-01

    The objective of this study was to assess the prevalence, gender differences, and time trends of Sickle Cell Trait in the Southern Suburb of Beirut, Lebanon, as well as to highlight the importance of screening for Sickle Cell Trait carriers in this population. Another objective was to describe a new screening technique for Sickle Cell Trait carriers. This was a retrospective cohort study carried out at a private laboratory in the Southern Suburb of Beirut, Lebanon between 2002 and 2014. The sickling test was carried out for each patient using two methods: the classical "sodium metabisulfite sickling test", and the new "sickling test method" used in the private lab. As a confirmatory test, hemoglobin electrophoresis was run on a random sample of 223 cases which were found to be positive using the two sickling tests. A total of 899 cases were found to be positive for the sickle cell trait out of 184,105 subjects screened during the 12-year period, prevalence = 0.49% (95% CI: 0.46 - 0.52). Among the total sample, females were found to have higher prevalence, where no time trend over the studied period was noted. The haemoglobin electrophoresis method confirmed the results of this new sickling test technique among the random sample of the 223 cases. We found that the prevalence of sickle cell trait is lower as compared to other Arab countries, higher in females, with no significant time trend. The sickle cell test was found to be an accurate, simple and cheap test that could be easily added as a requirement for the pre-marital testing to screen for Sickle Cell Trait carriers.

  2. Perception of young adults with sickle cell disease or sickle cell trait about participation in the CHOICES randomized controlled trial.

    Science.gov (United States)

    Hershberger, Patricia E; Gallo, Agatha M; Molokie, Robert; Thompson, Alexis A; Suarez, Marie L; Yao, Yingwei; Wilkie, Diana J

    2016-06-01

    To gain an in-depth understanding of the perceptions of young adults with sickle cell disease and sickle cell trait about parenthood and participating in the CHOICES randomized controlled trial that used computer-based, educational programmes. In the USA, there is insufficient education to assure that all young adults with sickle cell disease or sickle cell trait understand genetic inheritance risks and reproductive options to make informed reproductive decisions. To address this educational need, we developed a computer-based, multimedia program (CHOICES) and reformatted usual care into a computer-based (e-Book) program. We then conducted a two-year randomized controlled trial that included a qualitative component that would deepen understanding of young adults' perceptions of parenthood and use of computer-based, educational programmes. A qualitative descriptive approach completed after a randomized controlled trial. Sixty-eight men and women of childbearing age participated in semi-structured interviews at the completion of the randomized controlled trial from 2012-2013. Thematic content analysis guided the qualitative description. Three main themes were identified: (1) increasing knowledge and new ways of thinking and behaving; (2) rethinking parenting plans; and (3) appraising the program design and delivery. Most participants reported increased knowledge and rethinking of their parenting plans and were supportive of computer-based learning. Some participants expressed difficulty in determining individual transmission risks. Participants perceived the computer programs as beneficial to their learning. Future development of an Internet-based educational programme is warranted, with emphasis on providing tailored education or memory boosters about individual transmission risks. © 2015 John Wiley & Sons Ltd.

  3. 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.

  4. 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.

  5. The energy cost of kidney proton dialysis in sickle cell anaemia

    African Journals Online (AJOL)

    AJB SERVER

    2007-01-18

    Jan 18, 2007 ... kidney as most of the energy for proton dialysis is wasted as a result of high entropy. Key words: Sickle cell, anaemia, energy, kidney, dialysis, proton, and enthalpy. INTRODUCTION. Evidence exists that for those with sickle cell syndromes. “kidney damage starts very early and progresses throu- ghout life” ...

  6. 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…

  7. The rate and cost of hospitalisation in children with sickle cell ...

    African Journals Online (AJOL)

    2014-06-02

    Jun 2, 2014 ... Introduction. Sickle Cell Disease afflicts up to 100 million people worldwide, predominantly black people (in Africa, Europe and the America), Arabs, and those of Asian ancestry.1. In Nigeria, it is estimated that about 150,000 children are born with Sickle Cell Anaemia (SCA) annually, with a prevalence of ...

  8. [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.

  9. 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.

  10. Pre-marriage counseling as a tool for sickle cell disease awareness ...

    African Journals Online (AJOL)

    To assess the effect of pre-marriage counseling as a tool for sickle cell disease awareness. A structured questionnaire was used to obtain information from 207 mothers attending the infant welfare and antenatal clinics of Nnamdi Azikiwe University Teaching Hospital Nnewi on knowledge of the existence of sickle cell ...

  11. 78 FR 66747 - Sickle Cell Disease Public Meeting on Patient-Focused Drug Development

    Science.gov (United States)

    2013-11-06

    ... effects have the greatest impact on your life? (Examples may include pain crises, breathing problems... negative effects of your sickle cell disease? Please describe these treatments, which may include blood... you do to prevent or treat any negative effects of your sickle cell disease? Please describe any...

  12. Ultrasonic assessment of the prevalence of gall stones in sickle cell ...

    African Journals Online (AJOL)

    Background: Gallstone is a common problem in patients with sickle cell disease. Prevalence of this problem among sickle cell disease (SCD) children may vary with age, and geographic location. Studies on gallstone prevalence in SCD children are scanty in the South-South zone of Nigeria. Aim: To determine by ...

  13. Splenic Size in Sickle Cell Anaemia Patients in A Tertiary Hospital ...

    African Journals Online (AJOL)

    Sickle cell disease is one of the common haemoglobinopathies in the world. It can affect any organ in the body and one of the most common and an early organ to be affected in SCA is the spleen. Reports have shown that patients with sickle cell anaemia (HbSS) have an increased susceptibility to infection leading to ...

  14. 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.)

  15. 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…

  16. 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 ...

  17. The frequency and severity of epistaxis in children with sickle cell anaemia in eastern Uganda

    DEFF Research Database (Denmark)

    Nardo-Marina, Amina Nielsen; Williams, Thomas N; Olupot-Olupot, Peter

    2017-01-01

    BACKGROUND: There are a paucity of data on epistaxis as it pertains to sickle cell anaemia. Some case studies suggest epistaxis to be a significant complication in patients with sickle cell anaemia in sub-Saharan Africa; however, no robust studies have sought to establish the epidemiology...... or pathophysiology of this phenomenon. METHODS: We conducted a case-control study with the aim of investigating the importance of epistaxis among children presenting with sickle cell anaemia at the Mbale Regional Referral Hospital in eastern Uganda. Cases were children aged 2-15 years with an existing diagnosis...... of laboratory confirmed sickle cell anaemia, while controls were children without sickle cell anaemia who were frequency matched to cases on the basis of age group and gender. The frequency and severity of epistaxis was assessed using a structured questionnaire developed specifically for this study. Odds ratios...

  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. Acute liver failure in a patient with sickle cell/β+ thalassaemia

    International Nuclear Information System (INIS)

    Wigg, A.J.; Mounkley, A.D.; Cochlan, D.; Somers, S.

    2001-01-01

    We describe a rare, severe, vaso-occlusive presentation of sickle cell disease, named sickle cell intrahepatic cholestasis (SCIC). Patients with sickle cell/β + thalassaemia frequently have mild vaso-occlusive symptoms and only one case of SCIC developing in a patient with sickle cell/β + thalassaemia has been previously described in the world literature. The present report represents only the second described case of SCIC in a patient with sickle cell/β + thalassaemia. An abdominal computed tomography scan and Doppler ultrasound studies demonstrated massive hepatomegaly (25 cm span). Liver biopsy was performed and demonstrated dilatation and congestion of erythrocytes, severe cholestasis and fibrosis. The case demonstrates the importance of early recognition and institution of adequate therapy. Initial and correct diagnosis does not require biopsy or surgery which carry substantial risks of bleeding and mortality

  20. PREVALENCE OF SICKLE CELL TRAIT IN THE SOUTHERN SUBURBS OF BEIRUT, LEBANON

    Directory of Open Access Journals (Sweden)

    Abdel Badih El Ariss

    2016-02-01

    Full Text Available Objectives: The objective of this study was to assess the prevalence, gender differences, and time trends of sickle cell trait in Beirut, Lebanon. Another objective was to describe a new screening technique for sickle cell trait carriers. Methods: This was a retrospective cohort study carried out at a private laboratory in the southern suburb of Beirut, Lebanon between 2002 and 2014. The sickling test was carried out for each patient using two methods: the classical “sodium metabisulfite sickling test”, and the new “sickling test method” used in the private lab.  As a confirmatory test, haemoglobin electrophoresis was run on a random sample of 223 cases who were found to be positive using the two sickling tests.  Results: A total of 899 cases were found to be positive for the sickle cell trait out of 184,105 subjects screened during the 12-year period, prevalence = 0.49% (95% CI: 0.46 – 0.52. Among the total sample, females were found to have higher prevalence, where no time trend over the studied period was noted.  The haemoglobin electrophoresis method confirmed the results of this new sickling test technique among the random sample of the 223 cases.  Conclusion: We found that the prevalence of sickle cell trait is lower as compared to other Arab countries, higher in females, with no significant time trend. The sickle cell test was found to be an accurate, simple and cheap test which could be easily added as a requirement to the pre-marital testing to screen for sickle cell trait carriers.

  1. [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.

  2. 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)

  3. Basal cell adhesion molecule/lutheran protein. The receptor critical for sickle cell adhesion to laminin.

    Science.gov (United States)

    Udani, M; Zen, Q; Cottman, M; Leonard, N; Jefferson, S; Daymont, C; Truskey, G; Telen, M J

    1998-01-01

    Sickle red cells bind significant amounts of soluble laminin, whereas normal red cells do not. Solid phase assays demonstrate that B-CAM/LU binds laminin on intact sickle red cells and that red cell B-CAM/LU binds immobilized laminin, whereas another putative laminin binding protein, CD44, does not. Ligand blots also identify B-CAM/LU as the only erythrocyte membrane protein(s) that binds laminin. Finally, transfection of murine erythroleukemia cells with human B-CAM cDNA induces binding of both soluble and immobilized laminin. Thus, B-CAM/LU appears to be the major laminin-binding protein of sickle red cells. Previously reported overexpression of B-CAM/LU by epithelial cancer cells suggests that this protein may also serve as a laminin receptor in malignant tumors. PMID:9616226

  4. Intra-operative cell salvage and sickle cell trait in liver transplantation: time to re-consider?

    Science.gov (United States)

    Loh, P S; Gilder, F; Klinck, J

    2018-04-19

    Sickle cell trait (SCT), characterized by the sickle hemoglobin (HbS) gene in a heterozygous state is the most common hemoglobinopathy worldwide that is typically asymptomatic in affected individuals [1]. In Europe, migration has increased the prevalence, raising concerns about its clinical impact [1]. For example, the use of intraoperative cell salvage may induce sickling because of hypoxia during processing [2]. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

  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. Elevated homocysteine levels indicate suboptimal folate status in pediatric sickle cell patients

    NARCIS (Netherlands)

    van der Dijs, FPL; Schnog, JJB; Brouwer, DAJ; Velvis, HJR; van den Berg, GA; Bakker, AJ; Duits, AJ; Muskiet, FD

    1998-01-01

    We investigated whether pediatric patients with sickle cell disease (SCD) (9 +/- 4 years; 27 homozygous SCD [HbSS]; 19 sickle-C disease [HbSC]) have different folate status compared with age-, sex-, and race-matched normal hemoglobin (HbAA) controls (n = 20), and whether their folate status can be

  8. Orbital wall infarction mimicking periorbital cellulitis in a patient with sickle cell disease

    International Nuclear Information System (INIS)

    Ozkavukcu, Esra; Fitoz, Suat; Erden, Ilhan; Yagmurlu, Banu; Ciftci, Ergin; Ertem, Mehmet

    2007-01-01

    Orbital wall infarction and subperiosteal haematomas are unusual manifestations of sickling disorders. Here we report an 11-year-old girl with sickle cell anaemia having multiple skull infarctions including the orbital bony structures associated with subperiosteal haematomas. The diagnosis was made by MRI, which showed bone marrow changes and associated haemorrhagic collections. The patient was successfully managed without surgical intervention. (orig.)

  9. 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.)

  10. 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.

  11. 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.)

  12. Minimal doses of hydroxyurea for sickle cell disease

    Directory of Open Access Journals (Sweden)

    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

  13. 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

  14. The clinical impact of MTHFR polymorphism on the vascular complications of sickle cell disease

    Directory of Open Access Journals (Sweden)

    F. Moreira Neto

    2006-10-01

    Full Text Available Sickle cell disease (SCD is one of the most common inherited diseases in the world and the patients present notorious clinical heterogeneity. It is known that patients with SCD present activation of the blood coagulation and fibrinolytic systems, especially during vaso-occlusive crises, but also during the steady state of the disease. We determined if the presence of the factor V gene G1691A mutation (factor V Leiden, the prothrombin gene G20210A variant, and methylenetetrahydrofolate reductase (MTHFR C677T polymorphism may be risk factors for vascular complications in individuals with SCD. We studied 53 patients with SCD (60% being women, 29 with SS (sickle cell anemia; 28 years, range: 13-52 years and 24 with SC (sickle-hemoglobin C disease; 38.5 years, range: 17-72 years hemoglobinopathy. Factor V Leiden, MTHFR C677T polymorphism, and prothrombin G20210A variant were identified by PCR followed by further digestion of the PCR product with specific endonucleases. The following vascular complications were recorded: stroke, retinopathy, acute thoracic syndrome, and X-ray-documented avascular necrosis. Only one patient was heterozygous for factor V Leiden (1.8% and there was no prothrombin G20210A variant. MTHFR 677TT polymorphism was detected in 1 patient (1.8% and the heterozygous form 677TC was observed in 18 patients (34%, 9 with SS and 9 with SC disease, a prevalence similar to that reported by others. No association was detected between the presence of the MTHFR 677T allele and other genetic modulation factors, such as alpha-thalassemia, ß-globin gene haplotype and fetal hemoglobin. The presence of the MTHFR 677T allele was associated with the occurrence of vascular complications in SCD, although this association was not significant when each complication was considered separately. In conclusion, MTHFR C677T polymorphism might be a risk factor for vascular complications in SCD.

  15. 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.

  16. Pain control in sickle cell disease patients: use of complementary and alternative medicine.

    Science.gov (United States)

    Thompson, Wendy E; Eriator, Ike

    2014-02-01

    To examine the factors associated with the use of complementary and alternative medicine (CAM) as reported by patients attending an adult sickle cell clinic at a tertiary institution. Cross-sectional survey. This study was conducted in a university tertiary care adult sickle cell clinic. Adult sickle cell patients. Following Institutional Review Board approval, a questionnaire was administered to patients in a sickle cell clinic to examine their use of CAM for managing pain at home and while admitted to the hospital. Of the 227 respondents who completed the questionnaire, 92% experienced pain lasting from 6 months to more than 2 years. Two hundred and eight (91.6%) indicated that they have used CAM within the last 6 months to control pain. The frequency of CAMs use was higher among females, singles, those with more education, and higher household income. This study shows that a substantial majority of sickle cell patients live with pain on a regular basis and that there is substantial CAM use in the adult Sickle cell disease population. Being female and having a high school or higher education were significantly correlated with the use of CAM in sickle cell patients. A variety of CAM therapies are used, with the most common being prayer. Wiley Periodicals, Inc.

  17. Perceptions of young adults with sickle cell disease concerning their disease experience.

    Science.gov (United States)

    Matthie, Nadine; Hamilton, Jill; Wells, Diana; Jenerette, Coretta

    2016-06-01

    To describe the perceptions of young adults with sickle cell disease concerning their disease experience. Sickle cell disease is a lifelong, genetic condition with both acute and chronic painful exacerbations. Little is known of the experiences of young adults with sickle cell disease. This study used a qualitative, descriptive design with semi-structured, life review interviews. Between August 2010-September 2012, purposive sampling was used to recruit participants with a known sickle cell disease diagnosis who were ages 18-35 years, were being seen in an outpatient sickle cell clinic and were English speaking. Participants provided demographic information and responded to two interviews. A content analysis was then used to interpret participants' narratives of their experiences of living with sickle cell disease. A sample of 29 young adults with sickle cell disease consisted of 79·3% females, 35·6% employed full-time or part-time, 71·6% single/never married and 57·8% with sickle cell anaemia. Their mean age was 25·8 with 13·2 years of education. Four major interview themes were identified: (1) struggles to maintain or achieve good quality of life or life satisfactions; (2) strategies to maintain self-care; (3) interruptions to family, work and social roles; and (4) difficulties accessing needed health care. Young adults face many challenges while living with sickle cell disease. With a better understanding of their disease experience and how it influences their quality of life, researchers can begin tailoring appropriate interventions to improve health outcomes in this vulnerable, minority population. © 2015 John Wiley & Sons Ltd.

  18. 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

  19. Effectiveness of antenatal screening for sickle cell trait: the impact on women's self-report of sickle cell trait status.

    Science.gov (United States)

    Knight-Madden, J M; Reid, M; Younger, N; Francis, D; McFarlane, S; Wilks, R

    2012-03-01

    The sickle gene frequency in the Jamaican population has not changed over a generation. It is unknown whether routine antenatal screening for sickle cell trait (SCT) has affected women's knowledge of their SCT status. The aim of this study was to compare the prevalence of self-reported SCT in parous women to the prevalence in nulliparous women, men and to the observed prevalence of SCT measured in an antenatal clinic. All participants in the nationally representative Jamaica Health and Lifestyle Survey 2008 were asked whether they had the SCT. The impact of gender, age, educational attainment, geographical location, and pregnancy on self-reported SCT were assessed. The prevalence of SCT in women attending a large antenatal clinic concurrently was compared to that reported by women of child-bearing age in the lifestyle survey. Self-report significantly underestimated the prevalence of SCT (2·9% versus 10·1%, Peducation were more likely than those with presecondary education (P = 0·01) and women more likely than men (3·2% versus 1·1%, P = 0·001) to report having SCT. Women who had been pregnant were no more likely than other women to report having SCT (3·1% versus 4·1%, P = 0·4). Attendance at antenatal clinic where SCT screening is routine, is not associated with increased self-report of SCT. Screening programs must ensure that, as well as technically accurate screening, there is effective communication of the results of screening for SCT to those tested to help reduce the public health burden of sickle cell disease in tropical countries.

  20. Fertility challenges for women with sickle cell disease.

    Science.gov (United States)

    Ghafuri, Djamila L; Stimpson, Sarah-Jo; Day, Melissa E; James, Andra; DeBaun, Michael R; Sharma, Deva

    2017-10-01

    Sickle cell disease (SCD) represents one of the most common monogenic blood disorders worldwide, with an incidence of over 300,000 newborns affected per year. Reproductive challenges for men and women with SCD have been previously reviewed; however, evidence-based strategies to prevent and manage infertility and increase fecundity are lacking in women with SCD, which is one of the most important factors for quality of life. Areas covered: This review article summarizes the known risk factors for infertility, low fecundity, and premature menopause related to SCD. Expert commentary: Women with SCD have unique risk factors that may impact their ability to conceive, including chronic inflammation, oxidative stress, transfusion-related hemochromatosis, and ovarian sickling, causing ischemia and reperfusion injury to the ovary. Contraception is strongly recommended while on hydroxyurea therapy during reproductive years and discontinuing hydroxyurea for family planning and during pregnancy based on teratogenicity in animal studies. Hematopoietic stem cell transplantation (HSCT), the only curative therapy, sometimes involves conditioning regimens containing alkylating agents and total body irradiation that contribute to infertility and premature ovarian failure. Prior to HSCT or gene therapy, we strongly recommend referral to a reproductive endocrinologist to discuss fertility preservation and surrogacy options for all women with SCD.

  1. 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.

  2. 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.

  3. 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

  4. MRI of soft tissue abnormalities: a primary cause of sickle cell crisis

    International Nuclear Information System (INIS)

    Feldman, F.; Zwass, A.; Staron, R.B.; Haramati, N.

    1993-01-01

    The early manifestations of sickle cell crisis in soft tissues are important to recognize, though rarely manifest on radiographs and difficult to evaluate on computed tomography and bone scans. Documentation is critical, however, if appropriate judgments as to emergency treatment versus conservative measures are to be made. Seventeen adults seen in the emergency room or hospitalized in presumed sickle cells crisis underwent magnetic resonance imaging within 24-72 h of presentation. Results indicate that magnetic resonance imaging is a sensitive modality for documenting early soft tissue pathology which may be the predominant or sole cause of sickle cell crisis. (orig.)

  5. 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.

  6. Sickle Cell Disease and Your Baby

    Science.gov (United States)

    ... may need special care throughout his life. What causes SCD? SCD is inherited. This means it’s passed from parent to child through genes. A gene is a part of your body’s cells that stores instructions for the way your body grows and works. Genes come in pairs—you get one of ...

  7. Erythrocyte aging in sickle cell disease.

    NARCIS (Netherlands)

    Bosman, G.J.C.G.M.

    2004-01-01

    Physiological removal of old erythrocytes from the circulation by macrophages is initiated by binding of autologous IgG to senescent cell antigen (SCA). SCA is generated from the anion exchanger band 3. This process is accompanied by a number of alterations in the function and structure of band 3.

  8. 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.

  9. Sickle Cell Beta-Plus Thalassemia with Subcapsular Hematoma of the Spleen

    Directory of Open Access Journals (Sweden)

    Suyash Dahal

    2017-01-01

    Full Text Available While splenic complications like hypersplenism, sequestration crisis, and infarction are commonly reported in sickle cell variants like sickle cell beta-plus thalassemia, splenic rupture with hematoma is rare. We present a case of a 32-year-old young male who presented with dull left upper quadrant pain who was found to have multiple subcapsular splenic lacerations and hematoma on abdominal imaging. Hemoglobin electrophoresis confirmed sickle cell beta-plus thalassemia in the patient. There was no history of trauma, and rest of the workup for possible cause of spontaneous rupture of spleen was negative. With the patient refusing splenectomy, he was managed conservatively. Clinicians need to be aware of this rare complication of sickle cell variants.

  10. The lived experiences of adolescents with sickle cell disease in Kingston, Jamaica

    Directory of Open Access Journals (Sweden)

    Andrea Brown Forrester

    2015-09-01

    Full Text Available Aim: To explore the lived experiences of adolescents with sickle cell disease, in Kingston, Jamaica. Method: A descriptive qualitative design was used for this research. In-depth interviews were conducted with six adolescents with sickle cell disease at a Sickle Cell Unit operated by the University of the West Indies. Interviews were audiotaped, transcribed, and thematically analyzed. Results: The majority of the adolescents demonstrated a positive self-concept. They reported strong family, school, and peer support which made them feel accepted. All were actively engaged in social activities such as parties, but had challenges participating in sporting activities. Various coping strategies were utilized to address challenges of the disease including praying, watching television, and surfing the Internet. Conclusion: Sickle cell disease can be very challenging for the adolescent, but with positive self-concept and increased social support, especially from family and peers, these adolescents were able to effectively cope with their condition and live productive lives.

  11. The lived experiences of adolescents with sickle cell disease in Kingston, Jamaica.

    Science.gov (United States)

    Forrester, Andrea Brown; Barton-Gooden, Antoinette; Pitter, Cynthia; Lindo, Jascinth L M

    2015-01-01

    To explore the lived experiences of adolescents with sickle cell disease, in Kingston, Jamaica. A descriptive qualitative design was used for this research. In-depth interviews were conducted with six adolescents with sickle cell disease at a Sickle Cell Unit operated by the University of the West Indies. Interviews were audiotaped, transcribed, and thematically analyzed. The majority of the adolescents demonstrated a positive self-concept. They reported strong family, school, and peer support which made them feel accepted. All were actively engaged in social activities such as parties, but had challenges participating in sporting activities. Various coping strategies were utilized to address challenges of the disease including praying, watching television, and surfing the Internet. Sickle cell disease can be very challenging for the adolescent, but with positive self-concept and increased social support, especially from family and peers, these adolescents were able to effectively cope with their condition and live productive lives.

  12. Pentazocine abuse in sickle cell anaemia patients: a report of two ...

    African Journals Online (AJOL)

    Pentazocine abuse in sickle cell anaemia patients: a report of two case vignetes. ... African Journal of Drug and Alcohol Studies ... to review guidelines for the use of analgesics in the management of bone pain crisis or other chronic pains.

  13. 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.

  14. Incidence and Predictors of Bacterial infection in Febrile Children with Sickle Cell Disease.

    Science.gov (United States)

    Morrissey, Benita J; Bycroft, Thomas P; Almossawi, Ofran; Wilkey, Olufunke B; Daniels, Justin G

    2015-01-01

    Children with sickle cell disease are at increased risk of developing bacteremia and other serious bacterial infections. Fever is a common symptom in sickle cell disease and can also occur with sickle cell crises and viral infections. We aimed to evaluate the incidence and predictors of bacteremia and bacterial infection in children with sickle cell disease presenting with fever to a district hospital and sickle cell center in London. A retrospective analysis was performed on all attendances of children (aged under 16 years) with sickle cell disease presenting with a fever of 38.5 °C or higher over a 1-year period. Confirmed bacterial infection was defined as bacteremia, bacterial meningitis, urinary tract infection (UTI), pneumonia, osteomyelitis or other bacterial infection with positive identification of organism. Children were defined as having a suspected bacterial infection if a bacterial infection was suspected clinically, but no organism was identified. Over a 1-year period there were 88 episodes analyzed in 59 children. Bacteremia occurred in 3.4% of episodes and confirmed bacterial infection in 7.0%. Suspected bacterial infection occurred in 33.0%. One death occurred from Salmonella typhirium septicemia. C-reactive protein (CRP) level and white blood cell (WBC) count were both significantly associated with bacterial infection (p = 0.004 and 0.02, respectively.) In conclusion, bacterial infections continue to be a significant problem in children with sickle cell disease. C-reactive protein was significantly associated with bacterial infections, and could be included in clinical risk criteria for febrile children with sickle cell disease.

  15. [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

  16. Splenectomy reduces packed red cell transfusion requirement in children with sickle cell disease.

    Science.gov (United States)

    Haricharan, Ramanath N; Roberts, Jared M; Morgan, Traci L; Aprahamian, Charles J; Hardin, William D; Hilliard, Lee M; Georgeson, Keith E; Barnhart, Douglas C

    2008-06-01

    The purpose of the study was to measure the effect of splenectomy on packed-cell transfusion requirement in children with sickle cell disease. Thirty-seven sickle cell children who underwent splenectomies between January 2000 and May 2006 at a children's hospital were reviewed. Data were collected 6 months preoperatively to 12 months postsplenectomy. Paired t test, analysis of variance, and multivariable regression analyses were performed. Of 37 children with median age 11 years (range, 2-18 years), 34 (21 males) had data that allowed analyses. Twenty-six had Hgb-SS, 5 had Hgb-SC, and 3 had Hgb S-Thal. Laparoscopic splenectomy was attempted in 36 and completed successfully in 34 (94% success). The number of units transfused decreased by 38% for 0 to 6 months and by 45% for 6 to 12 months postsplenectomy. Postoperatively, hematocrit levels increased and reticulocytes concurrently decreased with a reduction in transfusion clinic visits. The decrease in transfusion was not influenced by spleen weight, age, or hemoglobin type. Two children had acute chest syndrome (6%), and 1 had severe pneumonia (3%). Laparoscopic splenectomy can be successfully completed in sickle cell children. Splenectomy significantly reduces the packed red cell transfusion requirement and frequency of clinic visits, in sickle cell children for at least 12 months postoperatively.

  17. DIFFERENCES IN HEALTH RELATED QUALITY OF LIFE IN CHILDREN WITH SICKLE CELL DISEASE RECEIVING HYDROXYUREA

    OpenAIRE

    Thornburg, Courtney D.; Calatroni, Agustin; Panepinto, Julie A.

    2011-01-01

    Hydroxyurea is a safe and efficacious medication for children with sickle cell disease (SCD). Our objective was to compare health related quality of life (HRQL) between children taking hydroxyurea and those not taking hydroxyurea. We conducted a retrospective cohort study of children with SCD who had completed the PedsQL 4.0 at Duke University Medical Center or the Midwest Sickle Cell Center. Our primary outcome was HRQL in children receiving hydroxyurea therapy compared to those not receivin...

  18. Socio-environmental exposures and health outcomes among persons with sickle cell disease

    OpenAIRE

    Asnani, Monika R.; Knight Madden, Jennifer; Reid, Marvin; Greene, Lisa-Gaye; Lyew-Ayee, Parris

    2017-01-01

    There is much variability in the expression of sickle cell disease (SCD) and recent works suggest that environmental and social factors may also influence this variability. This paper aims to use geographic information systems technology to examine the association between socio-environmental exposures and health outcomes in all persons who have attended or currently attend the Sickle Cell Unit in Jamaica. Rural patients presented for clinical care at older ages and had less annual visits to c...

  19. Pattern of AST and ALT changes in Relation to Hemolysis in sickle cell Disease

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    K. Nsiah

    2011-01-01

    Full Text Available Background Elevated aminotransferase levels are commonly associated with compromised hepatic integrity from various insults. In sickle cell disease, aspartate transaminase (AST is also released via intravascular hemolysis. This study was done to determine the pattern of changes in AST and alanine transaminase (ALT, in particular the AST:ALT ratio, and to relate these to the hemolytic state, which we consider to be more important than hepatic and cardiac dysfunction in some individuals with sickle cell disease. Methods Serum aminotransferase levels were measured in 330 subjects with sickle cell disease, as well as hemoglobin, reticulocytes, and lactate dehydrogenase. The AST:ALT ratio was designated as a hemolytic marker, and simple and multivariate regression analyses were carried out between this ratio and other hemolytic markers. Results Mean AST and ALT levels were 48.24 % 27.78 and 26.48 % 22.73 U/L, respectively. However, for 49 subjects without sickle cell disease, mean AST and ALT levels were the same, ie, 23.0 U/L. In the subjects with sickle cell disease, the increases in AST levels were far higher than for ALT, supporting its release via intravascular hemolysis. In 95.8% of the subjects with sickle cell disease, the AST:ALT ratio was > 1, but our results did not suggest overt malfunctioning of the liver and heart in the majority of subjects. Conclusion Regression analyses support the use of the AST:ALT ratio as a hemolytic marker, because it has an inverse association with the hemoglobin level. Whether in steady state or in crisis, provided hepatic and cardiac integrity has not been compromised, subjects with sickle cell disease would have higher AST levels due to the hemolytic nature of the condition. This is the first report highlighting the AST:ALT ratio in sickle cell disease.

  20. Actinomycetes as the causative organism of osteomyelitis in sickle cell disease

    International Nuclear Information System (INIS)

    Barter, S.J.; Hennessy, O.

    1984-01-01

    The case of a 17-year-old girl with sickle cell anaemia who presented with extensive osteomyelitis due to actinomycetes is reported. Osteomyelitis in the long bones due to actinomycosis is extremely rare. A review of the literature reveals only six cases in which actinomycetes have been isolated from lesions affecting a long bone. The occurence of this condition in sickle cell haemoglobinopathy has not been previously reported. (orig.)

  1. 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

  2. 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.

  3. Inhaled nitric oxide augments nitric oxide transport on sickle cell hemoglobin without affecting oxygen affinity

    OpenAIRE

    Gladwin, Mark T.; Schechter, Alan N.; Shelhamer, James H.; Pannell, Lewis K.; Conway, Deirdre A.; Hrinczenko, Borys W.; Nichols, James S.; Pease-Fye, Margaret E.; Noguchi, Constance T.; Rodgers, Griffin P.; Ognibene, Frederick P.

    1999-01-01

    Nitric oxide (NO) inhalation has been reported to increase the oxygen affinity of sickle cell erythrocytes. Also, proposed allosteric mechanisms for hemoglobin, based on S-nitrosation of β-chain cysteine 93, raise the possibilty of altering the pathophysiology of sickle cell disease by inhibiting polymerization or by increasing NO delivery to the tissue. We studied the effects of a 2-hour treatment, using varying concentrations of inhaled NO. Oxygen affinity, as measured by P50, did not respo...

  4. 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

  5. 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

  6. Sickle cell disease and complex congenital cardiac surgery: a case report and review of the pathophysiology and perioperative management.

    Science.gov (United States)

    Sanders, D B; Smith, B P; Sowell, S R; Nguyen, D H; Derby, C; Eshun, F; Nigro, J J

    2014-03-01

    Sickle cell anemia and thalassemia are hemoglobinopathies rarely encountered in the United States. Compounded with congenital heart disease, patients with sickle cell disease (SCD) requiring cardiopulmonary bypass and open-heart surgery represent the proverbial "needle in the haystack". As such, there is some trepidation on the part of clinicians when these patients present for complex cardiac surgery. SCD is an autosomal, recessive condition that results from a single nucleotide polymorphism in the β-globin gene. Hemoglobin SS molecules (HgbSS) with this point mutation can polymerize under the right conditions, stiffening the erythrocyte membrane and distorting the cellular structure to the characteristic sickle shape. This shape change alters cellular transit through the microvasculature. As a result, circumstances such as hypoxia, hypothermia, acidosis or diminished blood flow can lead to aggregation, vascular occlusion and thrombosis. Chronically, SCD can give rise to multiorgan damage secondary to hemolysis and vascular obstruction. This review and case study details an 11-year-old African-American male with known SCD who presented to the cardiothoracic surgical service with congenital heart disease consisting of an anomalous, intramural right coronary artery arising from the left coronary sinus for surgical consultation and subsequent surgical correction. This case report will include a review of the pathophysiology and current literature regarding preoperative, intraoperative and postoperative management of SCD patients.

  7. Sickle Cell Disease: New Opportunities and Challenges in Africa

    Directory of Open Access Journals (Sweden)

    J. Makani

    2013-01-01

    Full Text Available Sickle cell disease (SCD is one of the most common genetic causes of illness and death in the world. This is a review of SCD in Africa, which bears the highest burden of disease. The first section provides an introduction to the molecular basis of SCD and the pathophysiological mechanism of selected clinical events. The second section discusses the epidemiology of the disease (prevalence, morbidity, and mortality, at global level and within Africa. The third section discusses the laboratory diagnosis and management of SCD, emphasizing strategies that been have proven to be effective in areas with limited resources. Throughout the review, specific activities that require evidence to guide healthcare in Africa, as well as strategic areas for further research, will be highlighted.

  8. Cerebral blood flow mapping in children with sickle cell disease

    International Nuclear Information System (INIS)

    Numaguchi, Y.; Humbert, J.R.; Robinson, A.E.; Lindstrom, W.W.; Gruenauer, L.M.

    1988-01-01

    A cerebral blood flow mapping system was applied to the evaluation of cerebral blood flow (CBF) in 21 patients with sickle cell cerebrovascular disease, by means of a Picker xenon computed tomographic (CT) scanner. Results indicate that (1) xenon CT is a safe and reliable procedure in children with cerebrovascular diseases; (2) CBF in the gray matter of children seems to be higher than in previously reported data obtained with use of isotopes; and (3) regional CBF can be altered significantly by changing the size of the region of interest (ROI). The term regional CBF probably has to be carefully defined in xenon CT flow mapping. Correlation with anatomy by means of CT or magnetic resonance imaging and comparison with the ROI of the contralateral side and/or adjacent sections is important

  9. PERIOPERATIVE MANAGEMENT OF SICKLE CELL DISEASE: A NARRATIVE REVIEW

    Directory of Open Access Journals (Sweden)

    Kwame Ofori Adjepong

    2018-05-01

    Full Text Available An estimated 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-occlussive (painful crisis, acute chest syndrome, post-operative infections, congestive heart failure, cerebrovascular accident and acute kidney injury.  Pre-operative assessment must include careful review of the patient’s known crisis triggers, baseline hematologic profile, usual transfusion requirements, pre-existing organ dysfunction and narcotic 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.

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

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    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.

  11. Brazilian Guidelines for transcranial doppler in children and adolescents with sickle cell disease

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    Clarisse Lopes de Castro Lobo

    2011-02-01

    Full Text Available BACKGROUND: Sickle cell disease is the most common monogenic hereditary disease in Brazil. Although strokes are one of the main causes of morbidity and mortality in these patients, the use of transcranial Doppler to identify children at risk is not universally used. OBJECTIVE: To develop Brazilian guidelines for the use of transcranial Doppler in sickle cell disease children and adolescents, so that related health policies can be expanded, and thus contribute to reduce morbidity and mortality. METHODS: The guidelines were formulated in a consensus meeting of experts in transcranial Doppler and sickle cell disease. The issues discussed were previously formulated and scientific articles in databases (MEDLINE, SciELO and Cochrane were carefully analyzed. The consensus for each question was obtained by a vote of experts on the specific theme. RESULTS: Recommendations were made, including indications for the use of transcranial Doppler according to the sickle cell disease genotype and patients age; the necessary conditions to perform the exam and its periodicity depending on exam results; the criteria for the indication of blood transfusions and iron chelation therapy; the indication of hydroxyurea; and the therapeutic approach in cases of conditional transcranial Doppler. CONCLUSION: The Brazilian guidelines on the use of transcranial doppler in sickle cell disease patients may reduce the risk of strokes, and thus reduce the morbidity and mortality and improve the quality of life of sickle cell disease patients.

  12. [Perioperative management of laparoscopic cholecystectomy in children with homozygous sickle cell disease].

    Science.gov (United States)

    Ndoye, M Diop; Bah, M Diao; Pape, I Ndiaye; Diouf, E; Kane, O; Bèye, M; Fall, B; Ka-Sall, B

    2008-09-01

    Sickle cell disease is a public health problem in Africa. The aim of this prospective study was to evaluate per and post-operative complications of laparoscopic cholecystectomy in sickle cell children in Senegal. from January 1999 to December 2006, an anesthetic protocol was applied to 39 sickle cell children undergoing a cholecystectomy. Among them, 20 experienced laparoscopic cholecystectomy. All these 20 patients had previously suffered from sickle cell visceral complications and were classified as ASA II (11 cases) and as ASA III (9 cases). Blood transfusion program aimed at sustaining haemoglobin level between 10 and 12 g/dl was implemented. The preoperative monitoring and anesthesia management were the same for these patients. During perioperative period, the prevention of pain, hypovolemia, hypothermia and acidosis was achieved. The mean insufflation duration of laparoscopy was 23 min (17-60 min), the mean surgery duration was 55 min (40-110 min), and the mean anesthesia duration was 78 min (88-135 min). Postoperative complications occurred in 9 patients: acute chest syndrome (n=2), postoperative hemolysis (n=5), vaso-occlusive crisis (n=2). Laparoscopic cholecystectomy can be carried out in sickle cell children affected with gallstones, provided that general anaesthetic rules were respected. An appropriate pre-, per- and postoperative anaesthesia is mandatory to reduce postoperative complications in children with sickle cell disease. Searching for early diagnosis of gallstones before occurrence of visceral complications should allow further optimal laparoscopic surgery.

  13. Interleukin 8 as a vaso-occlusive marker in Brazilian patients with sickle cell disease.

    Science.gov (United States)

    Gonçalves, M S; Queiroz, I L; Cardoso, S A; Zanetti, A; Strapazoni, A C; Adorno, E; Albuquerque, A; Sant'Ana, A; dos Reis, M G; Barral, A; Barral Netto, M

    2001-10-01

    Sickle cell disease has a worldwide distribution and is a public health problem in Brazil. Although vaso-occlusive crisis (VOC) is one of the most important clinical features of the disease, there are still several steps of its pathogenesis which are unknown. The increase of the chemotactic factor interleukin 8 (IL-8) has been reported to be involved in sickle cell disease crisis, but this has not been demonstrated conclusively. In the present study we analyzed serum IL-8 levels by ELISA and hematological parameters and hemoglobin patterns by standard techniques in 23 (21 SS and 2 SC) Brazilian patients with sickle cell syndromes during VOC caused by different inducing factors, 22 (21 SS and 1 SC) sickle cell patients out of crisis, and 11 healthy controls. Increased IL-8 levels were observed in 19 of 23 VOC patients (79.2%), 3 of them with more than 1,000 pg/ml. Seventeen of 22 (77.3%) non-crisis patients showed low IL-8 levels (less than 15 pg/ml). Healthy controls had low IL-8 levels. A significant difference in serum IL-8 levels was observed between crisis and non-crisis sickle cell patients (Pcrisis-inducing factor. We conclude that in the studied population, IL-8 concentration may be a useful VOC marker, although the mechanism of the pathogenic process of sickle cell VOC syndromes remains unclear.

  14. Exploring parent-sibling communication in families of children with sickle cell disease.

    Science.gov (United States)

    Graff, J Carolyn; Hankins, Jane S; Hardy, Belinda T; Hall, Heather R; Roberts, Ruth J; Neely-Barnes, Susan L

    2010-01-01

    Communication within families of children with sickle cell disease is important yet has not been adequately investigated. Focus group interviews were conducted with parents of children with sickle cell disease to explore parent-sibling communication about sickle cell disease. Communication was influenced by attributes and behaviors of the parent, the child with sickle cell disease, and the sibling; extended family, neighbors, friends, and church members or social networks; and available, accessible resources related to the child's health, child's school, and parent employment. Outcomes that influenced and were influenced by factors within and outside the parent-sibling dyad and nuclear family included parent satisfaction, parent roles, family intactness, and status attainment. These findings support previous research with African-American families and expand our views of the importance of educating parents, family members, and others about sickle cell disease. The findings suggest a need to explore sibling perception of this communication, parent and sibling perception of the impact of frequent hospitalizations and clinic visits on the sibling and family, and variations within families of children with sickle cell disease.

  15. 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.

  16. Resting blood lactate in individuals with sickle cell disease

    Directory of Open Access Journals (Sweden)

    Jefferson Petto

    2011-02-01

    Full Text Available BACKGROUND: The most common hereditary hemoglobin disorder, affecting 20 million individuals worldwide, is sickle cell disease. The vascular obstruction resulting from the sickling of cells in this disease can produce local hypoxemia, pain crises and infarction in several tissues, including the bones, spleen, kidneys and lungs. METHODS: The present study is characterized as a case control study, with the aim of identifying the baseline blood lactate concentration in individuals with hemoglobin SS and SC diseases. One-way ANOVA with the Tukey post-test was used to analyze the results and a p-value < 0.05 was considered significant. Calculations were made using the INSTAT statistical program. The graphs were generated using the ORING program. The study sample was composed of 31 men and women residing in the city of Santo Antônio de Jesus, Bahia, Brazil. The individuals were divided into two groups: Group GC of 16 subjects who did not present with any type of structural hemoglobinopathy; and Group GE composed of 15 individuals with ages between 2 and 35 years old, who had the SS and SC genotypes. Sample analyses were performed with 3 mL of blood during fasting. RESULTS: The baseline blood lactate concentration of the SS and SC individuals was higher than that of the control group (p<0.001 with means of 4.86 ± 0.95; 3.30 ± 0.33; 1.31 ± 0.08 IU/L for SS, SC and controls, respectively. This corroborates the initial research hypothesis. CONCLUSION: The baseline blood lactate of SS and SC individuals is 3 to 4 times higher than that of healthy subjects, probably due to the fact that these patients have a metabolic deviation to the anaerobic pathway.

  17. 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.

  18. 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.

  19. Resting blood lactate in individuals with sickle cell disease

    Science.gov (United States)

    Petto, Jefferson; de Jesus, Jaqueline Brito; Vasques, Leila Monique Reis; Pinheiro, Renata Leão Silva; Oliveira, Aila Mascarenhas; Spinola, Kelly Aparecida Borges; Silva, Wellington dos Santos

    2011-01-01

    Background The most common hereditary hemoglobin disorder, affecting 20 million individuals worldwide, is sickle cell disease. The vascular obstruction resulting from the sickling of cells in this disease can produce local hypoxemia, pain crises and infarction in several tissues, including the bones, spleen, kidneys and lungs. Objective To determine red blood group genes in a Brazilian populations. Methods The present study is characterized as a case control study, with the aim of identifying the baseline blood lactate concentration in individuals with hemoglobin SS and SC diseases. One-way ANOVA with the Tukey post-test was used to analyze the results and a p-value < 0.05 was considered significant. Calculations were made using the INSTAT statistical program. The graphs were generated using the ORING program. The study sample was composed of 31 men and women residing in the city of Santo Antônio de Jesus, Bahia, Brazil. The individuals were divided into two groups: Group GC of 16 subjects who did not present with any type of structural hemoglobinopathy; and Group GE composed of 15 individuals with ages between 2 and 35 years old, who had the SS and SC genotypes. Sample analyses were performed with 3 mL of blood during fasting. Results The baseline blood lactate concentration of the SS and SC individuals was higher than that of the control group (p<0.001) with means of 4.86 ± 0.95; 3.30 ± 0.33; 1.31 ± 0.08 IU/L for SS, SC and controls, respectively. This corroborates the initial research hypothesis. Conclusion The baseline blood lactate of SS and SC individuals is 3 to 4 times higher than that of healthy subjects, probably due to the fact that these patients have a metabolic deviation to the anaerobic pathway. PMID:23284239

  20. Increased theta band EEG power in sickle cell disease patients

    Directory of Open Access Journals (Sweden)

    Case M

    2017-12-01

    Full Text Available Michelle Case,1 Sina Shirinpour,1 Huishi Zhang,1 Yvonne H Datta,2 Stephen C Nelson,3 Karim T Sadak,4 Kalpna Gupta,2 Bin He1,5 1Department of Biomedical Engineering, 2Department of Medicine, University of Minnesota, 3Pediatric Hematology-Oncology, Children’s Hospitals and Clinics of Minnesota, 4Pediatric Hematology-Oncology, University of Minnesota Masonic Children’s Hospital, 5Institute for Engineering in Medicine, University of Minnesota, Minneapolis, MN, USA Objective: Pain is a major issue in the care of patients with sickle cell disease (SCD. The mechanisms behind pain and the best way to treat it are not well understood. We studied how electroencephalography (EEG is altered in SCD patients. Methods: We recruited 20 SCD patients and compared their resting state EEG to that of 14 healthy controls. EEG power was found across frequency bands using Welch’s method. Electrophysiological source imaging was assessed for each frequency band using the eLORETA algorithm. Results: SCD patients had increased theta power and decreased beta2 power compared to controls. Source localization revealed that areas of greater theta band activity were in areas related to pain processing. Imaging parameters were significantly correlated to emergency department visits, which indicate disease severity and chronic pain intensity. Conclusion: The present results support the pain mechanism referred to as thalamocortical dysrhythmia. This mechanism causes increased theta power in patients. Significance: Our findings show that EEG can be used to quantitatively evaluate differences between controls and SCD patients. Our results show the potential of EEG to differentiate between different levels of pain in an unbiased setting, where specific frequency bands could be used as biomarkers for chronic pain. Keywords: sickle cell disease, electroencephalography, chronic pain, electrophysiological source imaging, thalamocortical dysrhythmia

  1. Determinants of academic performance in children with sickle cell anaemia.

    Science.gov (United States)

    Ezenwosu, Osita U; Emodi, Ifeoma J; Ikefuna, Anthony N; Chukwu, Barth F; Osuorah, Chidiebere D

    2013-11-19

    Some factors are known to influence the academic performance of children with Sickle Cell Anaemia (SCA). Information on their effects in these children is limited in Nigeria. The factors which influence academic performance of children with SCA in Enugu, Nigeria are determined in this study. Consecutive children with SCA aged 5-11 years were recruited at the weekly sickle cell clinic of the University of Nigeria Teaching Hospital (UNTH) Enugu, Nigeria. Their age- and sex- matched normal classmates were recruited as controls. The total number of days of school absence for 2009/2010 academic session was obtained for each pair of pupils from the class attendance register. Academic performance was assessed using the average of the overall scores in the three term examinations of same session. Intelligence ability was determined with Draw-A-Person Quotient (DAPQ) using the Draw-A-Person Test while socio-economic status was determined using the occupational status and educational attainment of each parent. Academic performance of children with SCA showed statistically significant association with their socio-economic status (χ2 = 9.626, p = 0.047), and significant correlation with DAPQ (r = 0.394, p = 0.000) and age (r = -0.412, p = 0.000). However, no significant relationship existed between academic performance and school absence in children with SCA (r = -0.080, p = 0.453). Academic performance of children with SCA is influenced by their intelligence ability, age and socio-economic status but not negatively affected by their increased school absenteeism.

  2. 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.

  3. MODULATING EFFECT OF THE −158 GΓ (C→T XMN-1 POLYMORPHISM IN INDIAN SICKLE CELL PATIENTS

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    Sanjay Pandey

    2012-01-01

    Full Text Available Xmn-1 polymorphism is a known factor, which increases fetal haemoglobin production. Among the inherited disorders of blood, thalassaemia and SCD constitutes a major bulk of genetic diseases in India.  Our aim was to verify the role of the Xmn I polymorphism as a modulating factor in sickle cell patients and frequency of the polymorphism in Indian sickle cell patients. Subjects were 60 sickles homozygous and 75 sickle beta thalassemia patients. 5 ml blood   samples collected from patients. Screening of sickle patients done by HPLC. An automated cell analyzer SYSMEX (K-4500 Model used to analyze the CBC of patients.Xmn1 polymorphism analysis done by PCR-RFLP and Statistical analysis was performed on GraphPad static’s software. t test applied to compare the means amongst group. Among the sickle homozygous 27 were   heterozygous (+/- and 19 were   homozygous (+/+ while 30 were heterozygous and 24 were homozygous in sickle β-thalassemia patients. Extremely significant differences (p-value <0.001 of hematological parameters seen among patient with xmn-1 carrier and without the xmn-1 carrier. In our cases the clinical symptom less frequent and higher HbF level with Xmn-1 carriers. Presence of Xmn-1 polymorphism in sickle patients with higher HbF that improve phenotypic presentation in the sickle cell patients. We conclude that the phenotype of Indian sickle cell patients influenced by Xmn-1 polymorphism.

  4. 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 ...

  5. 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 ...

  6. 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)

  7. Proceedings of a Sickle Cell Disease Ontology workshop — Towards the first comprehensive ontology for Sickle Cell Disease

    Directory of Open Access Journals (Sweden)

    Nicola Mulder

    2016-06-01

    The SCD community and H3ABioNet members joined forces at a recent SCD Ontology workshop to develop an ontology covering aspects of SCD under the classes: phenotype, diagnostics, therapeutics, quality of life, disease modifiers and disease stage. The aim of the workshop was for participants to contribute their expertise to development of the structure and contents of the SCD ontology. Here we describe the proceedings of the Sickle Cell Disease Ontology Workshop held in Cape Town South Africa in February 2016 and its outcomes. The objective of the workshop was to bring together experts in SCD from around the world to contribute their expertise to the development of various aspects of the SCD ontology.

  8. 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

  9. Use of piracetam improves sickle cell deformability in vitro and in vivo.

    Science.gov (United States)

    Gini, E K; Sonnet, J

    1987-01-01

    Microsieving diluted suspensions of oxygenated sickle cell anaemia (HbSS) cells on polycarbonate filters shows that piracetam improves the red cell deformability in vitro. In vivo an oral intake of 160 mg/kg/day divided in four doses enhances the HbSS cell deformability as actively as it does in in vitro experiments. The drug is also able partially to restore the impaired deformability of physiologically deoxygenated HbSS cells. These findings are consistent with the results of clinical trials, which show that continuous treatment with piracetam reduces the incidence of vaso-occlusive crises in patients with sickle cell disease. PMID:3818978

  10. Gene therapy for sickle cell disease: An update.

    Science.gov (United States)

    Demirci, Selami; Uchida, Naoya; Tisdale, John F

    2018-05-30

    Sickle cell disease (SCD) is one of the most common life-threatening monogenic diseases affecting millions of people worldwide. Allogenic hematopietic stem cell transplantation is the only known cure for the disease with high success rates, but the limited availability of matched sibling donors and the high risk of transplantation-related side effects force the scientific community to envision additional therapies. Ex vivo gene therapy through globin gene addition has been investigated extensively and is currently being tested in clinical trials that have begun reporting encouraging data. Recent improvements in our understanding of the molecular pathways controlling mammalian erythropoiesis and globin switching offer new and exciting therapeutic options. Rapid and substantial advances in genome engineering tools, particularly CRISPR/Cas9, have raised the possibility of genetic correction in induced pluripotent stem cells as well as patient-derived hematopoietic stem and progenitor cells. However, these techniques are still in their infancy, and safety/efficacy issues remain that must be addressed before translating these promising techniques into clinical practice. Published by Elsevier Inc.

  11. Antibody development in pediatric sickle cell patients undergoing erythrocytapheresis.

    Science.gov (United States)

    Godfrey, Gwendolyn J; Lockwood, William; Kong, Maiying; Bertolone, Salvatore; Raj, Ashok

    2010-12-01

    Erythrocytapheresis, or red blood cell exchange transfusion (RBCX), with donor red blood cell (RBC) units is now increasingly used in the treatment of acute and chronic complications of sickle cell disease (SCD). As in all transfusions, RCBX carries a risk of immunization against foreign antigen on transfused cells. However, by selecting donor units with RBC phenotypes similar to the patient, the risk of allo- and autoimmunization can be reduced. The formation of RBC alloantibodies and/or autoantibodies in 32 multitransfused pediatric SCD patients undergoing monthly RBCX over a 11-year period (12/1998 to 12/2009) was evaluated utilizing a retrospective patient chart review at Kosair Children's Hospital, Louisville, Kentucky. After starting C, E, K antigen-matched RBCX, the rate of clinically significant allo-immunization decreased from 0.189/100 to 0.053/100 U, with a relative risk of 27.9%. Likewise, the rate of autoimmunization decreased from 0.063/100 to 0.035/100 U, with a relative risk of 55.9%. After controlling for clinically insignificant antibodies, our auto- and alloimmunization rate was much less than previously reported values. In addition, the incidence of clinically significant allo- and autoimmunization decreased in our patient population after starting minor antigen-matched RBCX. These results suggest that by matching selected RBC phenotypes, there may be an association in the risk of allo- and autoimmunization of multi-transfused SCD patients.

  12. Increased phorbol 12,13-dibutyrate (PDBu) receptor function associated with sickle red cell membrane ghosts

    International Nuclear Information System (INIS)

    Ramachandran, M.; Nair, C.N.; Abraham, E.C.

    1987-01-01

    The biological receptor for tumor-promoting phorbol esters has been identified as the Ca 2+ /phospholipid dependent enzyme, protein kinase C. In the red cell, this enzyme is mainly cytosolic but becomes translocated to the membrane if the cellular Ca 2+ is allowed to rise. Since cellular Ca 2+ in sickle red cells is high, it was reasoned that this enzyme may become more membrane-bound. In fact, the authors noticed a four-fold increase in the binding of 3 H-PDBu by membrane ghosts isolated from sickle red cells compared to normal red cells (pmoles PDBu bound/mg protein; normal = 0.3 vs sickle cell = 1.4). Attempts to assay the enzyme directly as phospholipid-activated 32 P incorporation into the acid-precipitable membrane proteins also indicated a two-fold increase in the radiolabelling of sickle cell membrane ghosts. Autophosphorylation of membrane proteins and analysis of the phosphorylation profile by SDS-PAGE and autoradiography revealed phosphorylation predominantly of bands 3, 4.1 and 4.9 which are known protein kinase C substrates for the red cell enzyme. The increased membrane-associated protein kinase C in sickle red cells may have a bearing on the altered membrane properties reported in this condition

  13. 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.

  14. Lactate dehydrogenase as a biomarker for early renal damage in patients with sickle cell disease

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    Mohammad S Alzahri

    2015-01-01

    Full Text Available Among many complications of sickle cell disease, renal failure is the main contributor to early mortality. It is present in up to 21% of patients with sickle cell disease. Although screening for microalbuminuria and proteinuria is the current acceptable practice to detect and follow renal damage in patients with sickle cell disease, there is a crucial need for other, more sensitive biomarkers. This becomes especially true knowing that those biomarkers start to appear only after more than 60% of the kidney function is lost. The primary purpose of this study is to determine whether lactate dehydrogenase (LDH correlates with other, direct and indirect bio-markers of renal insufficiency in patients with sickle cell disease and, therefore, could be used as a biomarker for early renal damage in patients with sickle cell disease. Fifty-five patients with an established diagnosis of sickle cell disease were recruited to in the study. Blood samples were taken and 24-h urine collection samples were collected. Using Statcrunch, a data analysis tool available on the web, we studied the correlation between LDH and other biomarkers of kidney function as well as the distribution and relationship between the variables. Regression analysis showed a significant negative correlation between serum LDH and creatinine clearance, R (correlation coefficient = -0.44, P = 0.0008. This correlation was more significant at younger age. This study shows that in sickle cell patients LDH correlates with creatinine clearance and, therefore, LDH could serve as a biomarker to predict renal insufficiency in those patients.

  15. 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.

  16. 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.

  17. 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).

  18. Effect of health education on the knowledge and attitude to sickle cell disorder and screening practices among school of nursing students in Sokoto, Nigeria.

    Science.gov (United States)

    Abiola, A O; Ojika, B O; Mannir, B; Abba, S K; Muhammad, M; Ibrahim, M T O; Aschcroft, B N; Akanmu, S S

    2013-01-01

    Sickle cell disorder is the most important genetic hematological disease that affects people of black African descent. The years of young adulthood present a good opportunity for screening and counseling for this genetic blood disorder. To assess effect of health education and provision of free sickle cell haemoglobin screening on knowledge of sickle cell disorder, attitude towards sickle cell haemoglobin screening, and uptake of sickle cell haemoglobin screening among students of a School of Nursing. Study design was a quasi-experimental noncontrolled study. Self-administered questionnaire was used for pre- and post-intervention data collection. Implemented interventions were seminar on sickle cell disorder combined with free sickle cell haemoglobin screening. The data was analyzed with Epi-info version 3.5.1 statistical software package. Respondents who participated in all the study phases were 104. Mean knowledge score (%) was high (80.9 +/- 22.8%) at baseline and improved significantly to 91.8 +/- 9.4% (p marriage if self and fiancée are carriers of sickle cell haemoglobin. Phenotype of the respondents that volunteered to be screened for sickle cell haemoglobin were: A (70.5%), AC (6.8%) and AS (22.7%). Implemented interventions, seminar on sickle cell disorder combined with free sickle cell haemoglobin screening service yielded significant impact on respondents' knowledge, attitude and uptake of sickle cell haemoglobin screening.

  19. Blood transfusion in children with sickle cell disease undergoing tonsillectomy.

    Science.gov (United States)

    Atwood, Carlyn M; Gnagi, Sharon H; Teufel, Ronald J; Nguyen, Shaun A; White, David R

    2017-12-01

    Tonsillectomy is the second most common surgery in children with sickle cell disease. These children are at an increased risk of perioperative complications due to vaso-occlusive events. Although controversial, preoperative blood transfusions are sometimes given in an effort to prevent such complications. The purpose of this study is to analyze trends in the use of blood transfusion for management of children with sickle cell disease (SCD) undergoing tonsillectomy in a national database. Patients in the 1997-2012 KID with a primary procedure matching the ICD-9 procedure code for tonsillectomy (28.2-28.3) and diagnosis code for SCD (282.60-282.69) were examined. Patients were split into groups by blood transfusion status and compared across variables including complication rate, length of stay (LOS), and hospital charges. Statistical analysis included chi-square test for trend, Mann-Whitney U test, and independent t-test. 1133 patients with SCD underwent tonsillectomy. There was a strong positive correlation between increasing chronologic year and the proportion of patients receiving blood transfusions, 47 (30.1%) in 1997 to 78 (42.5%) in 2012 (r = 0.94, p = 0.005). During this period, there was no significant change in the rate of complications (r = -0.1, p = 0.87). Overall, patients receiving blood transfusion had a longer mean LOS (3.1 ± 2.4 days vs. 2.5 ± 2.2 days, p blood transfusion. The rate of complications in the transfusion group, 18 of 352(5.1%), was not significantly different (p = 0.48) from the group without transfusion, 40 of 626 (6.4%). From 1997 to 2012, there was a significant increase in the proportion of patients with SCD receiving perioperative blood transfusions for tonsillectomy. While the frequency of transfusion rose, those who received a transfusion had similar complication rates with increased charges and length of hospital stays compared to those who did not receive a transfusion. Copyright © 2017 Elsevier B.V. All

  20. Hydroxyurea responses in clinically varied beta, HbE-beta thalassaemia and sickle cell anaemia patients of Eastern India.

    Science.gov (United States)

    Chatterjee, Tridip; Chakravarty, Amit; Chakravarty, Sudipa

    2018-05-01

    The haematological and clinical response to hydroxyurea was estimated in HbE-beta, beta thalassaemia and sickle cell anaemia patients of Eastern India, with variable clinical severity and transfusion requirement to determine whether hydroxyurea can help these patients to maintain their steady haemoglobin level without blood transfusions. Three hundred patients (189 HbE-beta thalassaemia, 95 beta thalassaemia and 16 other haemoglobinopathies including sickle cell anaemia) were selected for hydroxyurea therapy and were followed up for 48-60 months. Results suggest significant response to hydroxyurea therapy in 19 beta and 99 HbE-beta patients in the transfusion-dependent group (GR-I). All of them became transfusion-independent while on hydroxyurea therapy. The majority of responding patients were IVS1-5(G-C) in one of their alleles in HbE-beta cases (83 out of 119). Though IVS1-5(G-C) was found to be the commonest mutation in our selected patients, the mutational background of the patients does not found to have any significant correlation with the response category towards hydroxyurea as per the results observed in our study. But, the drug works pretty well in most of the transfusion-dependent patients, as these patients were withdrawn from regular blood transfusion. At the same time, partial or no response to the drug hydroxyurea was also recorded in our study.

  1. 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.

  2. New Ways to Detect Pediatric Sickle Cell Retinopathy: A Comprehensive Review.

    Science.gov (United States)

    Pahl, Daniel A; Green, Nancy S; Bhatia, Monica; Chen, Royce W S

    2017-11-01

    Sickle retinopathy reflects disease-related vascular injury of the eye, which can potentially result in visual loss from vitreous hemorrhage or retinal detachment. Here we review sickle retinopathy among children with sickle cell disease, describe the epidemiology, pediatric risk factors, pathophysiology, ocular findings, and treatment. Newer, more sensitive ophthalmological imaging modalities are available for retinal imaging, including ultra-widefield fluorescein angiography, spectral-domain optical coherence tomography, and optical coherence tomography angiography. Optical coherence tomography angiography provides a noninvasive view of retinal vascular layers that could previously not be imaged and can be quantified for comparative or prospective analyses. Ultra-widefield fluorescein angiography provides a more comprehensive view of the peripheral retina than traditional imaging techniques. Screening for retinopathy by standard fundoscopic imaging modalities detects a prevalence of approximately 10%. In contrast, these more sensitive methods allow for more sensitive examination that includes the retina perimeter where sickle retinopathy is often first detectable. Use of these new imaging modalities may detect a higher prevalence of early sickle pathology among children than has previously been reported. Earlier detection may help in better understanding the pathogenesis of sickle retinopathy and guide future screening and treatment paradigms.

  3. [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.

  4. Candidate Sequence Variants and Fetal Hemoglobin in Children with Sickle Cell Disease Treated with Hydroxyurea

    Science.gov (United States)

    Green, Nancy S.; Ender, Katherine L.; Pashankar, Farzana; Driscoll, Catherine; Giardina, Patricia J.; Mullen, Craig A.; Clark, Lorraine N.; Manwani, Deepa; Crotty, Jennifer; Kisselev, Sergey; Neville, Kathleen A.; Hoppe, Carolyn; Barral, Sandra

    2013-01-01

    Background Fetal hemoglobin level is a heritable complex trait that strongly correlates swith the clinical severity of sickle cell disease. Only few genetic loci have been identified as robustly associated with fetal hemoglobin in patients with sickle cell disease, primarily adults. The sole approved pharmacologic therapy for this disease is hydroxyurea, with effects largely attributable to induction of fetal hemoglobin. Methodology/Principal Findings In a multi-site observational analysis of children with sickle cell disease, candidate single nucleotide polymorphisms associated with baseline fetal hemoglobin levels in adult sickle cell disease were examined in children at baseline and induced by hydroxyurea therapy. For baseline levels, single marker analysis demonstrated significant association with BCL11A and the beta and epsilon globin loci (HBB and HBE, respectively), with an additive attributable variance from these loci of 23%. Among a subset of children on hydroxyurea, baseline fetal hemoglobin levels explained 33% of the variance in induced levels. The variant in HBE accounted for an additional 13% of the variance in induced levels, while variants in the HBB and BCL11A loci did not contribute beyond baseline levels. Conclusions/Significance These findings clarify the overlap between baseline and hydroxyurea-induced fetal hemoglobin levels in pediatric disease. Studies assessing influences of specific sequence variants in these and other genetic loci in larger populations and in unusual hydroxyurea responders are needed to further understand the maintenance and therapeutic induction of fetal hemoglobin in pediatric sickle cell disease. PMID:23409025

  5. 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.

  6. Effects of vaccines in patients with sickle cell disease: a systematic review protocol.

    Science.gov (United States)

    Wiyeh, Alison Beriliy; Abdullahi, Leila Hussein; Wonkam, Ambroise; Wiysonge, Charles Shey; Kaba, Mamadou

    2018-03-25

    Sickle cell disease (SCD) is an inherited haematological disorder caused by a single point mutation (Glub6Val) that promotes polymerisation of haemoglobin S and sickling of erythrocytes. Inflammation, haemolysis, microvascular obstruction and organ damage characterise the highly variable clinical expression of SCD. People with SCD are at increased risk of severe infections, hence the need for vaccination against common disease-causing organisms in this population. We aim to review the evidence on the efficacy and safety of vaccines in people with SCD. The present systematic review will examine the current data as indexed in PubMed, CENTRAL, EMBASE and EBSCOHost. We will consult Strategic Advisory Group of Experts practice statements, conference abstracts, reference lists of relevant articles, WHO ICTRP trial registry and experts in the field. Two authors will independently screen search outputs, select studies, extract data and assess risk of bias; resolving discrepancies by discussion and consensus between the two authors or arbitration by a third author when necessary. We will perform a meta-analysis for clinically homogenous studies. Evidence from clinically diverse studies will be aggregated using narrative synthesis of the findings. In either case, we will use the GRADE approach to assess the strength of the available evidence. The study draws on data that are readily available in the public domain, hence no formal ethical review and approval is required. The findings of this review will be disseminated through conference presentations and a publication in a peer-reviewed journal. CRD42018084051. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  7. Asthma is a risk factor for acute chest syndrome and cerebral vascular accidents in children with sickle cell disease

    Directory of Open Access Journals (Sweden)

    Scott Paul J

    2005-01-01

    Full Text Available Abstract Background Asthma and sickle cell disease are common conditions that both may result in pulmonary complications. We hypothesized that children with sickle cell disease with concomitant asthma have an increased incidence of vaso-occlusive crises that are complicated by episodes of acute chest syndrome. Methods A 5-year retrospective chart analysis was performed investigating 48 children ages 3–18 years with asthma and sickle cell disease and 48 children with sickle cell disease alone. Children were matched for age, gender, and type of sickle cell defect. Hospital admissions were recorded for acute chest syndrome, cerebral vascular accident, vaso-occlusive pain crises, and blood transfusions (total, exchange and chronic. Mann-Whitney test and Chi square analysis were used to assess differences between the groups. Results Children with sickle cell disease and asthma had significantly more episodes of acute chest syndrome (p = 0.03 and cerebral vascular accidents (p = 0.05 compared to children with sickle cell disease without asthma. As expected, these children received more total blood transfusions (p = 0.01 and chronic transfusions (p = 0.04. Admissions for vasoocclusive pain crises and exchange transfusions were not statistically different between cases and controls. SS disease is more severe than SC disease. Conclusions Children with concomitant asthma and sickle cell disease have increased episodes of acute chest syndrome, cerebral vascular accidents and the need for blood transfusions. Whether aggressive asthma therapy can reduce these complications in this subset of children is unknown and requires further studies.

  8. 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.

  9. Myocardial SPECT in children with sickle cell disease

    International Nuclear Information System (INIS)

    Maunoury, C.; Hallaj, I.; Barritault, L.; Acar, P.; Montalembert, M. de

    2002-01-01

    Aim: While cerebral and bones strokes are well documented in children with sickle cell disease (SCD), impairment of myocardial perfusion is an unknown complication. Conventional techniques such as exercise testing and echocardiography have a low sensitivity and specificity to detect myocardial ischemia in patients with SCD. The aim of this prospective study was to assess myocardial perfusion with 201 Tl SPECT in children with SCD. Materials and Methods: Twenty-two patients, aged 12 ± 4 years, were included. Myocardial perfusion was assessed by 201 Tl SPECT after stress and 3 hours later after reinjection on a single head gammacamera equipped with a LEAP collimator (64x64 matrix size format, 30 projections over 180 0 , 30 seconds per step). Left ventricular ejection fraction (LVEF) was assessed by equilibrium radionuclide angiography at rest on the same day. Results: Myocardial perfusion was impaired in 13/22 patients: 8 had reversible defects and 5 had fixed defects. The left ventricular cavity was dilated in 13/22 patients. The mean LVEF was 63 ± 9%. There was no relationship between myocardial perfusion and left ventricular dilation or function. Conclusion: Myocardial perfusion is frequently impaired in children with SCD. Treatment with hydroxyurea should be considered in SCD patients with perfusion defects

  10. CT imaging of splenic sequestration in sickle cell disease

    International Nuclear Information System (INIS)

    Sheth, S.; Piomelli, S.; Ruzal-Shapiro, C.; Berdon, W.E.

    2000-01-01

    Pooling of blood in the spleen is a frequent occurrence in children with sickle cell diseases, particularly in the first few years of life, resulting in what is termed ''splenic sequestration crisis.'' The spectrum of severity in this syndrome is wide, ranging from mild splenomegaly to massive enlargement, circulatory collapse, and even death. The diagnosis is usually clinical, based on the enlargement of the spleen with a drop in hemoglobin level by >2 g/dl, and it is rare that imaging studies are ordered. However, in the patient who presents to the emergency department with non-specific findings of an acute abdomen, it is important to recognize the appearance of sequestration on imaging studies. We studied seven patients utilizing contrast-enhanced CT scans and found two distinct patterns - multiple, peripheral, non-enhancing low-density areas or large, diffuse areas of low density in the majority of the splenic tissue. Although radiological imaging is not always necessary to diagnose splenic sequestration, in those situations where this diagnosis is not immediately obvious, it makes an important clarifying contribution. (orig.)

  11. Impairment of myocardial perfusion in children with sickle cell disease

    International Nuclear Information System (INIS)

    Maunoury, C.; Acar, P.; Montalembert, M. de

    2003-01-01

    While brain, bone and spleen strokes are well documented in children with sickle cell disease (SCD), impairment of myocardial perfusion is an unknown complication. Non invasive techniques such as exercise testing and echocardiography have a low sensitivity to detect myocardial ischemia in patients with SCD. We have prospectively assessed myocardial perfusion with Tl-201 SPECT in 23 patients with SCD (10 female, 13 male, mean age 12 ± 5 years). Myocardial SPECT was performed after stress and 3 hours later after reinjection on a single head gamma camera equipped with a LEAP collimator (64 x 64 matrix size format, 30 projections over 180 deg C, 30 seconds per step). Left ventricular ejection fraction (LVEF) was assessed by equilibrium radionuclide angiography at rest on the same day. Myocardial perfusion was impaired in 14/23 patients: 9 reversible defects and 5 fixed defects. The left ventricular cavity was dilated in 14/23 patients. The mean LVEF was 63 ± 9%. There was no relationship between myocardial perfusion and left ventricular dilation or function. The frequent impairment of myocardial perfusion in children with SCD could lead to suggest a treatment with hydroxyurea, an improvement of perfusion can be noted with hydroxyurea. (author)

  12. Associates of School Absenteeism in Adolescents With Sickle Cell Disease

    Science.gov (United States)

    Schwartz, Lisa A.; Radcliffe, Jerilynn; Barakat, Lamia P.

    2009-01-01

    Background Despite high rates of school absenteeism in adolescents with sickle cell disease (SCD), the issue remains understudied. Potential associates of school absenteeism in adolescents with SCD include demographic (age, income), psychosocial (IQ, self-efficacy, competence, internalizing symptoms, negative thinking), and health-related (hemoglobin, health-care utilization, pain, disease knowledge). Procedure Forty participants ages 12–18 completed measures of psychosocial functioning, IQ, and pain. Medical chart reviews identified other health-related variables. A subsample also completed an assessment of goals. Using school records, absenteeism was the percent of school days missed in the previous year. Correlations tested associates of absenteeism and linear regression tested a model of absenteeism. Results Participants missed an average of 12% of the school year and more than 35% missed at least 1 month of school. Health-related and psychosocial variables, but not demographic variables, correlated with absenteeism. Attendance at clinic appointments and parent-reported teen pain frequency were significant associates of absenteeism in the regression model. For those who completed goal assessment, over 40% of goals identified were academically focused. Absenteeism was positively related to current academic goals and health-related hindrance of academic goals, and negatively related to future-oriented academic goals. Conclusions School absenteeism is a significant problem for adolescents with SCD despite the presence of academic goals. Collaboration between schools, parents, patients, and providers to understand and manage the impact of SCD on school attendance is recommended. PMID:19006248

  13. Controlling sickle cell disease in Ghana - ethics and options

    Science.gov (United States)

    Kyerewaa Edwin, Ama; Edwin, Frank; Etwire, Victor

    2011-01-01

    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 selective abortion. In the current era, SCD has a good prognosis and fairly reasonable quality of life. Advances in bone marrow transplantation have shown the disease is curable in selected patients. PND and selective abortion therefore raises a myriad of ethical dilemmas which are considered in this review. In the light of the demonstration of improved prognosis in recent times, PND and selective abortion appears to be applying capital punishment to the unborn child for “crimes” only the parents can be responsible for. In this review, we recommend control of SCD on three levels – preconception genetic testing and strategic reproductive choices, PND and education for carrier parents, and holistic management of persons with SCD. We emphasize the critical importance of self-management, especially self-awareness, in assuring a good quality of life for persons with SCD. We believe such an approach is cost-effective, and consistent with sound ethical principles and good conscience. PMID:22187596

  14. Cardiovascular features in adolescents and adults with sickle cell anaemia.

    Science.gov (United States)

    Ayuo, P O; Abinya, N A; Joshi, M D; Lore, W

    1993-05-01

    Fifty five sickle cell anaemia (SCA) patients at the Kenyatta National Hospital were studied with a view to elucidating their cardiovascular status. Their age range was 13 to 27 years (median 18.9 years). They comprised 27 males and 28 females and their mean haemoglobin concentration was 8.5 +/- 1.4 g/dl. Haemoglobin level of 8.0-9.9 g/dl seen in 30 patients was noted to confer the lowest incidence of exertional dyspnoea and palpitation. Similarly, patients with this haemoglobin level had the lowest mean heart rate. The mean blood pressure was 114.9 +/- 9.9 mmHg systolic and 64.6 +/- 10 mmHg diastolic. Blood pressures, ejection fraction (EF) and differential fibre shortening (%D) were found to be directly related to haemoglobin level, whereas cardio-thoracic index (CTI) and left ventricular dimensions were inversely related to haemoglobin level. Mean echocardiographic measurements were within normal limits and left ventricular functions were found to be normal in 80.9% of the patients indicating that the majority of SCA patients at the Kenyatta National Hospital have good cardiac function.

  15. Sickle cell disease: time for a targeted neonatal screening programme.

    LENUS (Irish Health Repository)

    Gibbons, C

    2015-02-01

    Ireland has seen a steady increase in paediatric sickle cell disease (SCD). In 2005, only 25% of children with SCD were referred to the haemoglobinopathy service in their first year. A non-funded screening programme was implemented. This review aimed to assess the impact screening has had. All children referred to the haemoglobinopathy service born in Ireland after 2005 were identified. Data was collected from the medical chart and laboratory system. Information was analysed using Microsoft Excel. 77 children with SCD were identified. The median age at antibiotic commencement in the screened group was 56 days compared with 447 days in the unscreened group, p = < 0.0003. 22 (28%) of infants were born in centre\\'s that do not screen and 17 (81%) were over 6 months old at referral, compared with 14 (21%) in the screened group. 6 (27%) of those in the unscreened group presented in acute crisis compared with 2 (3%) in the screened population. The point prevalence of SCD in Ireland is 0.2% in children under 15 yr of African and Asian descent. We identified delays in referral and treatment, which reflect the lack of government funded support and policy. We suggest all maternity units commence screening for newborns at risk of SCD. It is a cost effective intervention with a number needed to screen of just 4 to prevent a potentially fatal crisis.

  16. Sickle cell trait: what are the costs and benefits of screening?

    Science.gov (United States)

    Shephard, Roy J

    2016-12-01

    Eight percent of African Americans are carriers of the sickle cell trait. Some regard this as a benign anomaly, but others point to incidents of sudden exercise-related death, calling for a preliminary screening of either all athletes or those of African-American ancestry. This brief review considers the costs and benefits of such screening. The Ovid/Health Star data-base was searched from 1996 to June 2015. 2014. The terms "exercise", "exercise therapy", "sports", "athletes", "physical activity/motor activity" and "physical fitness" were combined to yield 227,120 citations. Likewise, the terms "sickle cell trait", "sickle cell disease", "splenic infarction", "hemoglobin S" and "rhabdomyolysis" identified 12,325 citations. A combination of the 2 searches yielded 416 abstracts. Excluding items relating to animal research or forms of rhabdomyolysis other than sickling left 375 abstracts; 115 papers merited full examination. This material covered the risks of sickle cell trait and of screening (55 items), effects upon physical performance (31 items), cellular mechanisms (23 items), nutrition (4 items), and other topics (2 items). Supplemented material was drawn from reference lists and personal files. The tendency to sickling was provoked by excessive exercise relative to physical condition in hot or hypoxic conditions, and by local tissue acidosis, conditions that were best avoided by all athletes. The condition had little impact upon physical performance, but the relative risks of heat illness, exertional rhabdomyolysis, splenic infarction and sudden death were all increased by the sickle cell trait. The absolute number of critical incidents was nevertheless small, calling for close assessment of the costs and putative benefits of widespread screening. Sports physicians should be aware of the clinical picture of sickling and be prepared to treat it. Screening may be cost-effective if targeted to black athletes involved in certain sports, although it has yet to be

  17. 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.

  18. 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

  19. 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.

  20. Hydroxyurea therapy in UK children with sickle cell anaemia: A single-centre experience.

    Science.gov (United States)

    Phillips, Kate; Healy, Laura; Smith, Louise; Keenan, Russell

    2018-02-01

    Despite the demonstrated efficacy of hydroxyurea therapy, children with sickle cell anaemia in the UK are preferentially managed with supportive care or transfusion. Hydroxyurea is reserved for children with severe disease phenotype. This is in contrast to North America and other countries where hydroxyurea is widely used for children of all clinical phenotypes. The conservative UK practice may in part be due to concerns about toxicity, in particular marrow suppression with high doses, and growth in children. We monitored 37 paediatric patients with sickle cell anaemia who were treated with hydroxyurea at a single UK treatment centre. Therapy was well tolerated and mild transient cytopenias were the only toxicity observed. Comparative analysis of patients receiving ≥26 mg/kg/day versus hydroxyurea as a disease-modifying therapy, which we advocate for all children with sickle cell anaemia. © 2017 The Authors. Pediatric Blood & Cancer Published by Wiley Periodicals, Inc.

  1. Pain Management for Sickle Cell Disease in the Pediatric Emergency Department: Medications and Hospitalization Trends.

    Science.gov (United States)

    Cacciotti, Chantel; Vaiselbuh, Sarah; Romanos-Sirakis, Eleny

    2017-10-01

    The majority of emergency department (ED) visits and hospitalizations for patients with sickle cell disease (SCD) are pain related. Adequate and timely pain management may improve quality of life and prevent worsening morbidities. We conducted a retrospective chart review of pediatric patients with SCD seen in the ED, selected by sickle cell-related ICD-9 codes. A total of 176 encounters were reviewed from 47 patients to record ED pain management and hospitalization trends. Mean time to pain medication administration was 63 minutes. Patients received combination (nonsteroidal anti-inflammatory drug [NSAID] + narcotic) pain medications for initial treatment at a minority of ED encounters (19%). A higher percentage of patients who received narcotics alone as initial treatment were hospitalized as compared with those who received combination treatment initially ( P= 0.0085). Improved patient education regarding home pain management as well as standardized ED guidelines for assessment and treatment of sickle cell pain may result in superior and more consistent patient care.

  2. Sickle Cell Disease with Cyanotic Congenital Heart Disease: Long-Term Outcomes in 5 Children.

    Science.gov (United States)

    Iannucci, Glen J; Adisa, Olufolake A; Oster, Matthew E; McConnell, Michael; Mahle, William T

    2016-12-01

    Sickle cell disease is a risk factor for cerebrovascular accidents in the pediatric population. This risk is compounded by hypoxemia. Cyanotic congenital heart disease can expose patients to prolonged hypoxemia. To our knowledge, the long-term outcome of patients who have combined sickle cell and cyanotic congenital heart disease has not been reported. We retrospectively reviewed patient records at our institution and identified 5 patients (3 girls and 2 boys) who had both conditions. Their outcomes were uniformly poor: 4 died (age range, 12 mo-17 yr); 3 had documented cerebrovascular accidents; and 3 developed ventricular dysfunction. The surviving patient had developmental delays. On the basis of this series, we suggest mitigating hypoxemia, and thus the risk of stroke, in patients who have sickle cell disease and cyanotic congenital heart disease. Potential therapies include chronic blood transfusions, hydroxyurea, earlier surgical correction to reduce the duration of hypoxemia, and heart or bone marrow transplantation.

  3. Partial Red Blood Cell Exchange in Children and Young Patients with Sickle Cell Disease: Manual Versus Automated Procedure.

    Science.gov (United States)

    Escobar, Carlos; Moniz, Marta; Nunes, Pedro; Abadesso, Clara; Ferreira, Teresa; Barra, António; Lichtner, Anabela; Loureiro, Helena; Dias, Alexandra; Almeida, Helena

    2017-10-31

    The benefits of manual versus automated red blood cell exchange have rarely been documented and studies in young sickle cell disease patients are scarce. We aim to describe and compare our experience in these two procedures. Young patients (≤ 21 years old) who underwent manual- or automated-red blood cell exchange for prevention or treatment of sickle cell disease complications were included. Clinical, technical and hematological data were prospectively recorded and analyzed. Ninety-four red blood cell exchange sessions were performed over a period of 68 months, including 57 manual and 37 automated, 63 for chronic complications prevention, 30 for acute complications and one in the pre-operative setting. Mean decrease in sickle hemoglobin levels was higher in automated-red blood cell exchange (p exchange and access alarm on automated-red blood cell exchange. No major complication or alloimunization was recorded. Automated-red blood cell exchange decreased sickle hemoglobin levels more efficiently than manual procedure in the setting of acute and chronic complications of sickle cell disease, with minor technical concerns mainly due to vascular access. The threshold of sickle hemoglobin should be individualized for clinical and hematological goals. In our cohort of young patients, the need for an acceptable venous access was a limiting factor, but iron-overload was avoided. Automated red blood cell exchange is safe and well tolerated. It permits a higher sickle hemoglobin removal efficacy, better volume status control and iron-overload avoidance.

  4. Rare but Lethal Hepatopathy-Sickle Cell Intrahepatic Cholestasis and Management Strategies.

    Science.gov (United States)

    Malik, Aamir; Merchant, Chandni; Rao, Mana; Fiore, Rosemary P

    2015-11-28

    Sickle cell disease can affect the liver by way of the disease process, including sickling in hepatic sinusoids, as well as its treatment, including repeated blood transfusions leading to hemosiderosis and hepatitis. Sickle cell intrahepatic cholestasis (SCIC) is an extreme variant of sickle cell hepatopathy, and is associated with high fatality. We present the case of a 31-year-old man with past medical history of sickle cell disease and cholecystectomy who was admitted with uncomplicated vaso occlusive crisis and during the hospital stay developed fever, upper abdominal pain, and jaundice. There was an accelerated rise in total bilirubin to 50 mg/dL, direct bilirubin 38 mg/dL, and Cr 3.0 mg/dL. Hb was 6.4 g/dL, reticulocyte count 16%, ALT 40 IU/L, AST 155 IU/L, ALP 320 IU/L, and LDH 475 IU/L. Hepatitis panel was negative and MRCP showed normal caliber of the common bile duct, with no obstruction. Exchange transfusion of 9 units of packed red blood cells led to great improvement in his condition. SCIC, unlike the other sickle cell hepatopathies, requires urgent and vigorous exchange transfusion. Renal impairment in SCIC has not been well studied but usually is reversible with the hepatic impairment, as in this case. Unresolved renal impairment requires dialysis and is associated with poor outcome. There is limited data on use of hydroxyurea to prevent SCIC, and liver transplant is associated with high mortality. A timely diagnosis of SCIC and appropriate management is life-saving.

  5. Evaluation of cardiac function tests in Sudanese adult patients with sickle cell trait

    Directory of Open Access Journals (Sweden)

    Kamal E.A. Abdelsalam

    2016-10-01

    Full Text Available Background: Cardiac dysfunctions have been recognized as a common complication of sickle cell anaemia (SCA, and together with pulmonary disorder accounts for many deaths in these patients. However, sickle cell traits appear clinically normal, although they have genetic abnormality. The aim of this study was to assess the effect of sickle cell trait on cardiac prognostic markers by measuring high density lipoprotein (HDL-C, low density lipoprotein (LDL-C, cardiac creatine kinase (CK-MB, ultra-sensitive C reactive protein (us-CRP, total homocysteine (Hyc, and N-terminal pro-brain natriuretic peptide (NT-pro BNP tests in adult Sudanese patients with sickle cell trait.Methods: A cross-sectional study was performed in 200 healthy volunteers as a control group and 200 diagnosed patients with sickle cell trait. It was carried out in Khartoum Specialized Hospital, Al-Bayan Hospital, Obayed Clinical Center and Dr. Nadir Specialized Hospital, Sudan between January 2015 and January 2016. All participants were between 20-32 years old. LDL-C, HDL-C, CK-MB, NT-proBNP and hs-CRP concentrations were measured by Hitachi 912 full-automated Chemistry Analyzer (Roche Diagnostics, Germany as manufacturer procedure, while homocysteine level was measured by ELISA technique using special kit.Results: When compared to control group, the levels of LDL-C, hs-CRP and NT-proBNP revealed significant increase in patients’ sera (p<0.001, while Hyc and CK-MB levels were increased insignificantly in patients with SCT (p=0.069, p=0.054 respectively. On the other hand, comparison to control group, HDL-C showed insignificant reduction in patients (p=0.099.Conclusion: The results suggest that sickle cell trait increased the risk of patient-related complication secondary to cardiac dysfunction.

  6. 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.

  7. Sciatic (Popliteal Fossa) Catheter for Pediatric Pain Management of Sickle Cell Crisis: A Case Report.

    Science.gov (United States)

    Weber, Garret; Liao, Sherry; Burns, Micah Alexander

    2017-11-15

    Sickle cell crisis, or vaso-occlusive crisis (VOC), is a major cause of hospitalizations for adults and children with sickle cell disease, and is associated with increased morbidity and mortality. Despite prompt pharmacological treatment and multimodal pain management, acute pain during a VOC is often not adequately controlled in the pediatric population. We placed a continuous popliteal sciatic nerve block under ultrasound guidance in a pediatric patient for localized refractory pain during a VOC, resulting in improved pain control with preserved sensorimotor function.

  8. Solid pseudopapillary tumor of pancreas with sickle cell trait: A rare case report

    Directory of Open Access Journals (Sweden)

    Harish S Permi

    2013-01-01

    Full Text Available Solid pseudopapillary tumor of pancreas is a rare pancreatic neoplasm affecting young women, has low malignant potential and amenable for surgical excision with good long-term survival. Sickle cell trait is benign condition, which involves one normal beta-globin chain and one HbS chain. Although it is a benign condition, individuals are prone to have rare complications that may predispose to death under certain circumstances. We report a rare coexistence of solid pseudopapillary tumor of pancreas with sickle cell trait in an 18-year-old female who underwent distal pancreatectomy with splenectomy. Histopathological examination and haemoglobin electrophoresis confirmed the diagnosis.

  9. An unusual cause of acute renal failure in sickle cell disease

    Science.gov (United States)

    Rockx, Marie-Antoinette; Gibson, Ian W.; Reslerova, Martina

    2009-01-01

    A young female with sickle cell disease was treated for biopsy-proven IgA nephropathy. Serum creatinine levels resolved to normal range, but a year later, she presented with oedema, hypertension and acute renal failure. A repeat renal biopsy showed acute-on-chronic thrombotic microangiopathy (TMA). We suggest that circulating microparticles could be a pathophysiological link between sickle cell disease and the development of renal TMA. This case emphasizes the importance of a further biopsy for acutely declining renal function, even when a definite diagnosis has been made from a previous biopsy. PMID:25949348

  10. 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.

  11. MR imaging of sickle cell patients: Comparison during pain-free and crisis states

    International Nuclear Information System (INIS)

    Brogdon, B.G.; Williams, J.P.; Mankad, V.N.; Harpen, M.D.; Moore, R.B.

    1986-01-01

    The MR imaging appearance of long bones and femoral heads of patients with sickle cell disease during a pain-free steady state and during a crisis-pain state was compared with the MR imaging appearance of matched healthy control subjects. A distinctive signal change in the narrow spaces of the long bones of patients with sickle cell disease was seen at all times. Distinct signal changes during pain crises were found in the marrow of a significant number of patients. Changes associated with aseptic necrosis, when present, did not differ from changes seen in aseptic necrosis of other causes

  12. 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

  13. 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 ...

  14. 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.

  15. Piracetam for reducing the incidence of painful sickle cell disease crises.

    Science.gov (United States)

    Al Hajeri, Amani; Fedorowicz, Zbys

    2016-02-12

    Sickle cell disease is one of the most common genetic disorders. Sickle cell crises in which irregular and dehydrated cells contribute to blocking of blood vessels are characterised by episodes of pain. Treatment is mainly supportive and symptomatic. In vitro studies with piracetam indicate that it has the potential for inhibition and a reversal of the process of sickling of erythrocytes. This is an update of a previously published Cochrane review. To assess the effectiveness of piracetam for reducing the incidence of painful sickle cell disease crises. We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Haemoglobinopathies Trials Register which comprises of references identified from comprehensive electronic database searches and handsearches of relevant journals and abstract books of conference proceedings.Last search of the Group's Haemoglobinopathies Trials Register: 21 September 2015. Randomised controlled trials comparing orally administered piracetam to placebo or standard care in people, of all ages and both sexes, with sickle cell disease. Two authors independently assessed trial quality and extracted data. Trial authors were contacted for additional information. Adverse effects data were collected from the trials. Three trials involving 169 participants were included in the review. A limited amount of data addressing some of the primary and some of the secondary outcomes were provided, but data were incomplete and based on un-validated assumptions used in the evaluation of outcomes. One trial reported a reduction in the number of pain crises and their severity with active intervention than placebo but presented no data to confirm these results. A second trial presented a monthly global pain score based on the number of sickle cell crises and severity of pain but included no separate data for these primary outcomes. Although there was no significant difference between the piracetam and placebo periods for the number of days of

  16. AAPT Diagnostic Criteria for Chronic Sickle Cell Disease Pain.

    Science.gov (United States)

    Dampier, Carlton; Palermo, Tonya M; Darbari, Deepika S; Hassell, Kathryn; Smith, Wally; Zempsky, William

    2017-05-01

    Pain in sickle cell disease (SCD) is associated with increased morbidity, mortality, and high health care costs. Although episodic acute pain is the hallmark of this disorder, there is an increasing awareness that chronic pain is part of the pain experience of many older adolescents and adults. A common set of criteria for classifying chronic pain associated with SCD would enhance SCD pain research efforts in epidemiology, pain mechanisms, and clinical trials of pain management interventions, and ultimately improve clinical assessment and management. As part of the collaborative effort between the Analgesic, Anesthetic, and Addiction Clinical Trial Translations Innovations Opportunities and Networks public-private partnership with the U.S. Food and Drug Administration and the American Pain Society, the Analgesic, Anesthetic, and Addiction Clinical Trial Translations Innovations Opportunities and Networks-American Pain Society Pain Taxonomy initiative developed the outline of an optimal diagnostic system for chronic pain conditions. Subsequently, a working group of experts in SCD pain was convened to generate core diagnostic criteria for chronic pain associated with SCD. The working group synthesized available literature to provide evidence for the dimensions of this disease-specific pain taxonomy. A single pain condition labeled chronic SCD pain was derived with 3 modifiers reflecting different clinical features. Future systematic research is needed to evaluate the feasibility, validity, and reliability of these criteria. An evidence-based classification system for chronic SCD pain was constructed for the Analgesic, Anesthetic, and Addiction Clinical Trial Translations Innovations Opportunities and Networks-American Pain Society Pain Taxonomy initiative. Applying this taxonomy may improve assessment and management of SCD pain and accelerate research on epidemiology, mechanisms, and treatments for chronic SCD pain. Copyright © 2017 The Authors. Published by

  17. Patient Perspectives on Gene Transfer Therapy for Sickle Cell Disease.

    Science.gov (United States)

    Strong, Heather; Mitchell, Monica J; Goldstein-Leever, Alana; Shook, Lisa; Malik, Punam; Crosby, Lori E

    2017-08-01

    Sickle cell disease (SCD) is a chronic genetic disease with high morbidity and early mortality; it affects nearly 100,000 individuals in the USA. Bone marrow transplantation, the only curative treatment, is available to less than 20% of patients because of a number of access barriers. Gene transfer therapy (GTT) has been shown to be curative in animal models and is approved for use in humans for early-phase studies at a few centers. GTT would offer a more accessible treatment option available to all patients. It is important to understand patient perspectives on GTT to help ensure human clinical trial success. Two focus groups were conducted with younger (18-30 years) and older (31 years and older) adults with SCD to obtain data on patient knowledge and beliefs about GTT. Data from these two focus groups was used to develop a GTT educational brochure. A third focus group was conducted to obtain participant feedback on acceptability and feasibility of education and the brochure. Most adults, especially young adults, had little knowledge about GTT and expressed fear and uncertainty about the side effects of chemotherapy (e.g., hair loss, infertility), use of a human immunodeficiency virus (HIV)-derived viral vector, and potential for cancer risk. Participants wanted full transparency in educational materials, but advised researchers not to share the vector's relation to HIV because of cultural stigma and no HIV virus is used for the GTT vector. Older adults had more desire to participate in human clinical GTT trials than younger participants. When recruiting for trials, researchers should develop GTT educational materials that address participant lack of trust in the healthcare system, cultural beliefs, fears related to side effects, and include visual illustrations. Use of such materials will provide adults with SCD the information they need to fully evaluate GTT.

  18. Desickling of Sickle Cell Erythrocytes by Pulsed RF Fields.

    Science.gov (United States)

    1986-09-16

    spectrophotometery. Field induced menbrane potential which causes the L partyl breakdown of the memrbrane and the formation of pores was calculated... plasma . Fig.5 shows the photographs of sickled and desickled SS erythrocytes which are suspended in Hank’s solution. As shown, desickled erythrocytes

  19. Dynamics of von Willebrand factor reactivity in sickle cell disease during vaso-occlusive crisis and steady state

    NARCIS (Netherlands)

    Sins, J. W. R.; Schimmel, M.; Luken, B. M.; Nur, E.; Zeerleder, S. S.; van Tuijn, C. F. J.; Brandjes, D. P. M.; Kopatz, W. F.; Urbanus, R. T.; Meijers, J. C. M.; Biemond, B. J.; Fijnvandraat, K.

    2017-01-01

    Background: Endothelial activation plays a central role in the pathophysiology of vaso-occlusion in sickle cell disease (SCD), facilitating adhesive interactions with circulating blood cells. Upon activation, various adhesive molecules are expressed, including von Willebrand factor (VWF). Increased

  20. Managing the acute painful episode in sickle cell disease

    Directory of Open Access Journals (Sweden)

    B. Kaya

    2011-12-01

    Full Text Available Sickle cell pain is a complex but frequently experienced symptom. Acute painful events in children can be managed effectively in the community with appropriate support and education. If hospital management is required, rapid access to a consistent, reliable and safe analgesic pathway is recommended to ensure a good standard of care. Use of oral opiates in addition to short acting easily administrable forms of analgesia and strict adherence to protocoled monitoring will enable the acute event to be well managed and the negative pain experience minimised. An important part of the outpatient evaluation is determining the impact pain events are having on the child’s quality of life. Addressing psycho-social aspects, defining and modifying precipitating factors, if any are identified, and having a holistic approach to pain management is helpful. Education and use of self-management techniques can also be productive. Use of sickle modifying interventions such as hydroxycarbamide therapy or transfusion therapy can have a significant impact on reducing the severity and frequency of the acute pain event. 镰状细胞疼痛是一种复杂的常发症。 通过适当的支助和教育,儿童急性疼痛症可以得到有效抑制。 如果需要在医院进行护理,患者应尽快寻求持续可靠且安全的止痛方式,确保良好的护理。 除采取作用短、管理方便的止痛治疗和遵守监测协议之外,患者还需口服鸦片剂,这样,急性症状可以得到良好的抑制,还可尽量减轻疼痛感。 诊断门诊病人一个重要的部分就是确定疼痛症对患儿生活质量产生的影响。 问询生理社会方面问题,确定和修改诱发因子(如有),并整体分析可行的疼痛护理方法。 教育和使用个人护理法也很有效果。 采用镰状细胞修改干预法,例如羟基尿素疗法或输液疗法,对减轻急性疼痛症和减少发作频率有着显著效果。

  1. 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.

  2. 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.

  3. 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)

  4. Circulating erythrocyte-derived microparticles are associated with coagulation activation in sickle cell disease

    Science.gov (United States)

    van Beers, Eduard J.; Schaap, Marianne C.L.; Berckmans, René J.; Nieuwland, Rienk; Sturk, Augueste; van Doormaal, Frederiek F.; Meijers, Joost C.M.; Biemond, Bart J.

    2009-01-01

    Background Sickle cell disease is characterized by a hypercoagulable state as a result of multiple factors, including chronic hemolysis and circulating cell-derived microparticles. There is still no consensus on the cellular origin of such microparticles and the exact mechanism by which they may enhance coagulation activation in sickle cell disease. Design and Methods In the present study, we analyzed the origin of circulating microparticles and their procoagulant phenotype during painful crises and steady state in 25 consecutive patients with sickle cell disease. Results The majority of microparticles originated from platelets (GPIIIa,CD61) and erythrocytes (glycophorin A,CD235), and their numbers did not differ significantly between crisis and steady state. Erythrocyte-derived microparticles strongly correlated with plasma levels of markers of hemolysis, i.e. hemoglobin (r=−0.58, pmicroparticles (r=0.63, p0.05). The extent of factor XI inhibition was associated with erythrocyte-derived microparticles (r=0.50, p=0.023). Conclusions We conclude that the procoagulant state in sickle cell disease is partially explained by the factor XI-dependent procoagulant properties of circulating erythrocyte-derived microparticles. PMID:19815831

  5. 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.

  6. Cold hypersensitivity increases with age in mice with sickle cell disease

    Science.gov (United States)

    Zappia, Katherine J.; Garrison, Sheldon R.; Hillery, Cheryl A.; Stucky, Cheryl L.

    2014-01-01

    Sickle cell disease (SCD) is associated with acute vaso-occlusive crises that trigger painful episodes and frequently involves ongoing, chronic pain. Additionally, both humans and mice with SCD experience heighted cold sensitivity. However, studies have not addressed the mechanism(s) underlying the cold sensitization, nor its progression with age. Here we measured thermotaxis behavior in young and aged mice with severe SCD. Sickle mice had a marked increase in cold sensitivity measured by a cold preference test. Further, cold hypersensitivity worsened with advanced age. We assessed whether enhanced peripheral input contributes to the chronic cold pain behavior by recording from C fibers, many of which are cold-sensitive, in skin-nerve preparations. We observed that C fibers from sickle mice displayed a shift to warmer (more sensitive) cold-detection thresholds. To address mechanisms underlying the cold sensitization in primary afferent neurons, we quantified mRNA expression levels for ion channels thought to be involved in cold detection. These included the Transient Receptor Potential Melastatin 8 (Trpm8) and TRP Ankyrin 1 (Trpa1) channels, as well as the two-pore domain potassium channels, TREK-1 (Kcnk2), TREK-2 (Kcnk4), and TRAAK (Kcnk10). Surprisingly, transcript expression levels of all of these channels were comparable between sickle and control mice. We further examined transcript expression of 83 additional pain-related genes and found increased mRNA levels for endothelin 1 and tachykinin receptor 1. These factors may contribute to hypersensitivity in sickle mice at both the afferent and behavioral levels. Sensory neurons from sickle cell disease mice are sensitized to cold, mirroring behavioral observations, and have increased expression of endothelin 1 and tachykinin receptor 1. PMID:24953902

  7. 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.

  8. ABO (H) secretor status of sickle cell disease patients in Zaria ...

    African Journals Online (AJOL)

    Certain individuals secrete ABO blood group antigens in body fluids and secretions while others do not. In this study, the presence of water soluble agglutinogens in body fluids such as blood, saliva and urine of 64 sickle cell disease patients and 75 AA genotype subjects who served as control were taken and tested by ...

  9. MRI/MRA evaluation of sickle cell disease of the brain

    International Nuclear Information System (INIS)

    Zimmerman, Robert A.

    2005-01-01

    Sickle cell disease is a major cause of pediatric stroke. Understanding the disease that affects the brain as infarctions, both clinically apparent and silent, requires an understanding of how the blood vessels are affected, the way in which both the brain and the blood vessels are imaged by MRI and MRA and the mechanism of injury. (orig.)

  10. 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…

  11. 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.)

  12. 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

  13. 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.

  14. C-reactive Protein and Disease Outcome in Nigerian Sickle Cell ...

    African Journals Online (AJOL)

    Background: Evidence suggests that sickle cell disease (SCD) is associated with a chronic inflammatory state. C.reactive protein (CRP) is known to modulate inflammation. Its role in the chronic inflammation of SCD may make it valuable as a therapeutic target. Aim: The aim was to determine CRP levels in SCD subjects in ...

  15. School Performance and Disease Interference in Adolescents with Sickle Cell Disease

    Science.gov (United States)

    Crosby, Lori E.; Joffe, Naomi E.; Irwin, Mary Kay; Strong, Heather; Peugh, James; Shook, Lisa; Kalinyak, Karen A.; Mitchell, Monica J.

    2015-01-01

    Sickle cell disease (SCD) results in neuropsychological complications that place adolescents at higher risk for limited educational achievement. A first step to developing effective educational interventions is to understand the impact of SCD on school performance. The current study assessed perceptions of school performance, SCD interference and…

  16. Clonal structure of Staphylococcus aureus colonizing children with sickle cell anaemia and healthy controls

    NARCIS (Netherlands)

    Schaumburg, F.; Biallas, B.; Alabi, A. S.; Grobusch, M. P.; Feugap, E. N.; Lell, B.; Mellmann, A.; Peters, G.; Kremsner, P. G.; Becker, K.; Adegnika, A. A.

    2013-01-01

    Children with sickle cell anaemia (SCA) might carry hospital-associated bacterial lineages due to frequent hospital stays and antibiotic treatments. In this study we compared Staphylococcus aureus from SCA patients (n=73) and healthy children (n=143) in a cross-sectional study in Gabon. S. aureus

  17. Quality of life of individuals with sickle cell disease followed at referral centers in Alagoas, Brazil

    Directory of Open Access Journals (Sweden)

    Rosana Quintella Brandão Vilela

    2012-01-01

    Full Text Available BACKGROUND: Sickle cell disease is a genetic, hereditary and chronic disease that affects the health of its carriers and might impair their health-related quality of life. OBJECTIVE: The aim of the current study was to assess the health-related quality of life of individuals with sickle cell disease followed at referral centers in Alagoas, Brazil. METHODS: A total of 40 individuals with sickle cell disease aged 12 to 43 years old were evaluated by means of sociodemographic and clinical questionnaires, the Medical Outcomes Study 36-Item Short Form Health Survey and the Beck Depression Inventory. The latter was applied only to adults. RESULTS: Most participants were adults (62.5% with a predominance of the SS genotype (85% with pain being the commonest complication (95%. Mood disorder was found in 40% of the adults. The patients exhibited overall impairment of quality of life, which was more pronounced among the adults and under 15-year-old adolescents. Married adults exhibited less impairment of most quality of life domains compared to unmarried adults, and the adults with mood disorder exhibited greater impairment of all quality of life domains. CONCLUSIONS: These results suggest that interventions that aim to improve vitality, pain, and mental health might contribute to maintaining high levels of quality of life in patients with sickle cell disease, especially among adults and under 15-year-old adolescents.

  18. Priapism in paediatric patients with sickle cell disease - a report of ...

    African Journals Online (AJOL)

    Results: Of the 185 SCD cases, three (1.6%) had priapism. They were adolescents aged 17years, 11years and 10 years 9months respectively. Two patients had never attended a sickle cell clinic, never been on routine drugs nor received advice on oral liberal fluids intake. One patient had stuttering priapism, 24hours before ...

  19. Anaesthetic implications of laparoscopic splenectomy in patients with sickle cell anaemia.

    LENUS (Irish Health Repository)

    Doodnath, R.

    2010-04-01

    With the increasing immigrant population in the Republic of Ireland, the number of patients with sickle cell disease (SCD) seen in the paediatric hospitals is climbing. In this case report, we review the anaesthetic implications and outcome of the first two paediatric patients with SCD to have a laparoscopic splenectomy due to repeated splenic infarcts in the Republic of Ireland.

  20. Prevalence of sickle cell gene among apparently healthy under-two ...

    African Journals Online (AJOL)

    None of the subjects had SCD and the prevalence of sickle cell trait (SCT) among them was 22%. Premarital counselling intervention in families seemed to increase the prevalence of SCT when compared to those not counselled but this was not statistically significant (p = 0.30). The lower prevalence of SCT among children ...

  1. Acute abdominal conditions in people with sickle cell disease: A 10 ...

    African Journals Online (AJOL)

    2011-06-15

    Jun 15, 2011 ... Six cases of surgical acute abdomen in sickle cell disease patients treated in the University ... index of suspicion coupled with repeated clinical examination is needed for early diagnosis and ... Click here to download free Android application for this journal ... and diagnosis, investigations, surgical treatment,.

  2. Growth and nutritional status of children with homozygous sickle cell disease

    NARCIS (Netherlands)

    Al-Saqladi, A.-W. M.; Cipolotti, R.; Fijnvandraat, K.; Brabin, B. J.

    2008-01-01

    Background: Poor growth and under-nutrition are common in children with sickle cell disease (SCD). This review summarises evidence of nutritional status in children with SCD in relation to anthropometric status, disease severity, body composition, energy metabolism, micronutrient deficiency and

  3. C‑reactive Protein and Disease Outcome in Nigerian Sickle Cell ...

    African Journals Online (AJOL)

    Sillesen H, Nordestgaard BG. Genetically elevated C‑reactive protein and ischemic vascular disease. N Engl J Med. 2008;359:1897‑908. 18. Walter PB, Fung EB, Killilea DW, Jiang Q, Hudes M, Madden J, et al. Oxidative stress and inflammation in iron‑overloaded patients with beta‑thalassaemia or sickle cell disease. Br J.

  4. Risk factor analysis of cerebral white matter hyperintensities in children with sickle cell disease

    NARCIS (Netherlands)

    van der Land, Veronica; Mutsaerts, Henri J. M. M.; Engelen, Marc; Heijboer, Harriët; Roest, Mark; Hollestelle, Martine J.; Kuijpers, Taco W.; Nederkoorn, Paul J.; Cnossen, Marjon H.; Majoie, Charles B. L. M.; Nederveen, Aart J.; Fijnvandraat, Karin

    2016-01-01

    Sickle cell disease (SCD) is complicated by silent cerebral infarcts, visible as white matter hyperintensities (WMHs) on magnetic resonance imaging (MRI). Both local vaso-occlusion, elicited by endothelial dysfunction, and insufficiency of cerebral blood flow (CBF) have been proposed to be involved

  5. Mothers Raising Children with Sickle Cell Disease at the Intersection of Race, Gender, and Illness Stigma

    Science.gov (United States)

    Burnes, David P. R.; Antle, Beverley J.; Williams, Charmaine C.; Cook, Lisa

    2008-01-01

    This qualitative study used the long interview method with Canadian mothers of African and Caribbean descent to understand the underresearched experience of raising a child with sickle cell disease (SCD). Mothers' realities were explored through three levels of social organization: daily caregiver coping (micro level); community views of SCD, such…

  6. Assessment of renal function in children with sickle cell anaemia in ...

    African Journals Online (AJOL)

    Assessment of renal function in children with sickle cell anaemia in University of Maiduguri Teaching Hospital. A.G. Farouk, A.H. Elechi, M.S. Yauba, M.G. Mustapha, B.A. Ibrahim, H.A. Ibrahim, L.M. Ibrahim, J.P. Ambe ...

  7. Variations in the β-Globin genes of Sickle Cell Anaemia Patients in ...

    African Journals Online (AJOL)

    2016-07-28

    Jul 28, 2016 ... Context: Sickle Cell Anaemia (SCA) is a genetic disorder with a life-long disability .... also cause diagnostic difficulties with routine diagnostic facilities.[10] ..... doi: 10.1038/npg.els.0005005. Available at www.els.net. [Last.

  8. Malaria, HIV and sickle cell disease in Ghana : Towards tailor-made interventions

    NARCIS (Netherlands)

    Owusu, E.D.A.

    2018-01-01

    Ghana has made many strides in the fight against malaria. This research looked at the contribution of malaria transmission heterogeneity to malaria, and the effect of geographical overlap between malaria, HIV and sickle cell disease. Our systematic review of the interactions between HIV and SCD

  9. 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.

  10. Pain management in sickle cell disease: What remedy to reduce the ...

    African Journals Online (AJOL)

    Sickle cell disease is an inherited disorder, the hallmark of which is recurrent acute painful crises requiring opioid therapy. These acute painful episodes when superimposed on chronic pain could last for years especially in association with comorbidities like osteonecrosis, chronic leg ulcers, cholelithiasis or stuttering ...

  11. Stroke in children with sickle cell anaemia in Sokoto: a ten-year review

    African Journals Online (AJOL)

    Objective: Stroke (cerebrovascular accident) generally occurs more often in children than once suspected, with its attendant potential consequences. It is an under recognized cause of neurologic disabilty in children, with varied causes. Stroke is a devastating and potentially life threatening complication of sickle cell ...

  12. 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

  13. Anaesthetic implications of laparoscopic splenectomy in patients with sickle cell anaemia.

    LENUS (Irish Health Repository)

    Doodnath, R

    2012-02-01

    With the increasing immigrant population in the Republic of Ireland, the number of patients with sickle cell disease (SCD) seen in the paediatric hospitals is climbing. In this case report, we review the anaesthetic implications and outcome of the first two paediatric patients with SCD to have a laparoscopic splenectomy due to repeated splenic infarcts in the Republic of Ireland.

  14. 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…

  15. The Import of Abdominal Pain in Adults with Sickle Cell Disorder ...

    African Journals Online (AJOL)

    crisis in sickle cell patients with abdominal pain and their clinical correlates if any. METHODS: Clinical records of adults with SCD (Hb SS and Hb SC) attending the Haematology Outpatients' Clinic of the Obafemi Awolowo University Teaching Hospitals Complex, Southwest Nigerian, over a ten-year period, were reviewed.

  16. 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

  17. Mortality rate in Sickle Cell Disease Patients in Crisis at a ...

    African Journals Online (AJOL)

    The Haematology Day Care Unit (HDCU) of the University College Hospital, Ibadan, Nigeria was established in 1975 with the main goal of providing immediate and specialized care to haematological emergencies, particularly sickle cell disease (SCD) patients. Since inception, a systematic analysis of its effectiveness has ...

  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. 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

  1. 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 ...

  2. 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,

  3. 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.

  4. Evaluating the Use of Ketamine for Pain Control With Sickle Cell Crisis in Pregnancy: A Report of 2 Cases.

    Science.gov (United States)

    Gimovsky, Alexis C; Fritton, Kate; Viscusi, Eugene; Roman, Amanda

    2018-01-01

    Sickle cell crises occur frequently during pregnancy and are difficult to treat, even with high-dose opioids. Analgesia with ketamine has been suggested as an alternative, but its use during pregnancy is underreported. Two pregnant patients with uncontrolled sickle cell pain were treated with ketamine. Patient A reported no decrease in her pain, but her opioid requirements decreased. Patient B's pain resolved during ketamine administration. No serious maternal or neonatal adverse effects occurred. Ketamine may be considered as an adjunct analgesic in pregnant patients with sickle cell pain, although prospective clinical data are needed to fully assess its efficacy.

  5. 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.

  6. Calcified pulmonary thromboembolism in a child with sickle cell disease: value of multidetector CT in patients with acute chest syndrome

    International Nuclear Information System (INIS)

    Staser, Jonathan A.; Alam, Tariq; Applegate, Kimberly

    2006-01-01

    The incidence of pulmonary embolism in children is not clearly known, but is believed to be low. Risk factors for pulmonary thromboembolism include central venous catheter, malignancy, surgery, infection, trauma, and congenital hypercoagulable disorders. Children with sickle cell disease are prothrombotic and are at an increased risk of thromboembolism. The incidence of this event is unknown because these children are often not thoroughly imaged. We report here a case of a calcified pulmonary thromboembolism in a child with sickle cell disease and emphasize the use of multidetector CT in detection of pulmonary thromboembolism in children with sickle cell disease. (orig.)

  7. 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.

  8. P-wave dispersion: relationship to left ventricular function in sickle cell anaemia.

    Science.gov (United States)

    Oguanobi, N I; Onwubere, B J; Ike, S O; Anisiuba, B C; Ejim, E C; Ibegbulam, O G

    2011-01-01

    The prognostic implications of P-wave dispersion in patients with a variety of cardiac disease conditions are increasingly being recognised. The relationship between P-wave dispersion and left ventricular function in sickle cell anaemia is unknown. This study was aimed at evaluating the relationship between P-wave dispersion and left ventricular function in adult Nigerian sickle cell anaemia patients. Between February and August 2007, a total of 62 sickle cell anaemia patients (aged 18-44 years; mean 28.27 ± 5.58) enrolled in the study. These were drawn from patients attending the adult sickle cell clinic of the University of Nigeria Teaching Hospital, Ituku-Ozalla, Enugu. An equal number of age- and gender-matched normal subjects served as controls. All the participants were evaluated with electrocardiography and echocardiography. P-wave dispersion was defined as the difference between the maximum and minimum P-wave duration measured in a 12-lead electrocardiogram. P-wave duration and P-wave dispersion were significantly higher in patients than in controls. Significant correlation was demonstrated between P-wave dispersion and age in the patients (r = 0.387; p = 0.031). A comparison of subsets of sickle cell anaemia patients and controls with comparable haematocrit values (30-35%) showed significantly higher P-wave duration and P-wave dispersion in the patients than in the controls. The P-wave duration in patients and controls, respectively, was 111.10 ± 14.53 ms and 89.14 ± 16.45 ms (t = 3.141; p = 0.006). P-wave dispersion was 64.44 ± 15.86 ms in the patients and 36.43 ± 10.35 ms in the controls (t = 2.752; p = 0.013). Significant negative correlation was found between P-wave dispersion and left ventricular transmitral E/A ratio (r = -0.289; p = 0.023). These findings suggest that P-wave dispersion could be useful in the evaluation of sickle cell patients with left ventricular diastolic dysfunction. Further prospective studies are recommended to evaluate

  9. IMPACT OF MANNOSE-BINDING PROTEIN GENE POLYMORPHISMS IN OMANI SICKLE CELL DISEASE PATIENTS

    Directory of Open Access Journals (Sweden)

    Mathew Zachariah

    2016-02-01

    Full Text Available Objectives: Our objective was to study mannose binding protein (MBP polymorphisms in exonic and promoter region and correlate associated infections and vasoocculsive (VOC episodes, since MBP plays an important role in innate immunity by activating the complement system. Methods: We studied the genetic polymorphisms in the Exon 1 (alleles A/O and promoter region (alleles Y/X; H/L, P/Q of the MBL2 gene, in sickle cell disease (SCD patients as increased incidence of infections is seen in these patients. A PCR-based, targeted genomic DNA sequencing of MBL2 was used to study 68 SCD Omani patients and 44 controls (voluntary blood donors. Results: The observed frequencies of MBL2 promoter polymorphism (-221, Y/X were 44.4% and 20.5% for the heterozygous genotype Y/X and 3.2% and 2.2% for the homozygous (X/X respectively between SCD patients and controls. MBL2 Exon1 gene mutations were 29.4% and 50% for the heterozygous genotype A/O and 5.9% and 6.8% respectively for the homozygous (O/O genotype between SCD patients and controls. The distribution of variant MBL2 polymorphisms did not show any correlation in SCD patients with or without vasoocculsive crisis (VOC attacks (p=0.162; OR-0.486; CI=0.177 -1.33, however, it was correlated with infections (p=0.0162; OR-3.55; CI 1.25-10.04. Conclusions: Although the frequency of the genotypes and haplotypes of MBL2 in SCD patients did not differ from controls, overall in the SCD patient cohort the increased representation of variant alleles was significantly correlated with infections (p<0.05. However, these variant MBL2 polymorphisms did not seem to play a significant role in the VOC episodes in this SCD cohort. Keywords: Mannose-binding lectin, polymorphism, promoter, Sickle cell disease, MBL2, MBP

  10. 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.

  11. Mutation in cultured mammalian cells

    International Nuclear Information System (INIS)

    Nakamura, N.; Okada, S.

    1982-01-01

    Mammalian cell cultures were exposed to gamma-rays at various dose rates. Dose-rate effects were observed in cultured somatic cells of the mouse for cell killing and mutations resistant to 6-thioguanine (TGsup(r)) and to methotrexate (MTXsup(r)). Linear quadratic model may be applied to cell killing and TGsup(r) mutations in some cases but can not explain the whole data. Results at low doses with far low dose-rate were not predictable from data at high doses with acute or chronic irradiation. Radioprotective effects of dimethyl sulfoxide were seen only after acute exposure but not after chronic one, suggesting that damages by indirect action of radiations may be potentially reparable by cells. TGsup(r) mutations seem to contain gross structural changes whereas MTXsup(r) ones may have smaller alterations. (Namekawa, K.)

  12. Morbiletalidad en pacientes adultos con drepanocitosis Morbimortality rates in adult patients with sickle cell disease

    Directory of Open Access Journals (Sweden)

    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

  13. Hydroxyurea is associated with lower prevalence of albuminuria in adults with sickle cell disease.

    Science.gov (United States)

    Laurin, Louis-Philippe; Nachman, Patrick H; Desai, Payal C; Ataga, Kenneth I; Derebail, Vimal K

    2014-06-01

    Albuminuria is an early manifestation of sickle cell nephropathy. Prior small case series suggests benefit of hydroxyurea in reducing albuminuria, with a similar trend noted in pediatric studies. We aimed to comprehensively evaluate hydroxyurea use and prevalence of albuminuria in adult sickle cell patients. We performed a cross-sectional study of 149 adult patients followed between 2000 and 2011 in a comprehensive sickle cell clinic. All patients were assessed for albuminuria either by direct measurement or by urinary chemical strip (dipstick) testing. Urinary albumin-to-creatinine ratios (UACRs) were available for 112 patients. Hydroxyurea exposure was defined as ≥3 months of therapy before the assessment of albuminuria. Albuminuria was defined as either UACR ≥30 mg/g or ≥1+ proteinuria on two separate dipsticks. We constructed a multivariate logistic regression model to assess the association between hydroxyurea and albuminuria. The prevalence of albuminuria was lower among patients on hydroxyurea (34.7 versus 55.4%; P = 0.01) as was median albumin excretion (17.9 versus 40.5 mg/g; P = 0.04). In multivariate analysis, hydroxyurea was associated with a lower likelihood of albuminuria (odds ratio 0.28, 95% CI: 0.11-0.75, P = 0.01), adjusting for age, angiotensin-converting enzyme inhibitor/angiotensin receptor blocker use, tricuspid regurgitant jet velocity, hypertension and acute chest syndrome. In our population of sickle cell patients, those using hydroxyurea were less than one-third as likely to exhibit albuminuria. Hydroxyurea use may prevent development of overt nephropathy or the progression of sickle cell disease nephropathy to end-stage renal disease, and its use for this indication merits further investigation. © The Author 2013. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved.

  14. Prevalence and pattern of sickle cell disease in premarital couples in Southeastern Nigeria.

    Science.gov (United States)

    Nnaji, G A; Ezeagwuna, D A; Nnaji, Ijf; Osakwe, J O; Nwigwe, A C; Onwurah, O W

    2013-01-01

    Premarital haemoglobin screening is an important strategy for the control of Sickle Cell Disease. 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. A cross sectional descriptive study using interviewer administered questionnaire and haemoglobin screening to collect data. Systematic sampling of every third premarital couples attending the General outpatient Clinic of Nnamdi Azikiwe University Teaching Hospital, Nnewi, between November 2010 and October 2011 was used to select the subjects for the study. SPSS version 16 was used for statistical analysis of data from 212 premarital couples or 424 subjects. The prevalence of HbAA and HbAS were 72.64% or 308/424 and 26.4% or 112/424, respectively, while HbSS was 0.94% or 4/424. In 95.3% of the couples there was no risk of offspring inheriting sickle cell anaemia. An equal percentage of males (χ2 = 24.704; df = 6; P = 0.000) and females (χ2 = 12. 684; df 6; P = 0.048) (67.9% or 144/212) would call-off their marriage if there was risk of their offspring being HbSS. Three quarters of the premarital couples had HbAA, while one quarter had Sickle cell trait. A very low percentage of the couples (2.8%) had 1:4 risk of their offspring inheriting SCA (HbSS). About 2/3 of the subjects would call-off the marriage if there was risk of their offspring inheriting SCA.

  15. 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.

  16. 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

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

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    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.

  18. [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.

  19. Characterization of mortality in children with sickle cell disease diagnosed through the Newborn Screening Program.

    Science.gov (United States)

    Sabarense, Alessandra P; Lima, Gabriella O; Silva, Lívia M L; Viana, Marcos Borato

    2015-01-01

    To characterize the deaths of 193 children with sickle cell disease screened by a neonatal program from 1998 to 2012 and contrast the initial years with the final years. Deaths were identified by active surveillance of children absent to scheduled appointments in Blood Bank Clinical Centers (Hemominas). Clinical and epidemiological data came from death certificates, neonatal screening database, medical records, and family interviews. Between 1998 and 2012, 3,617,919 children were screened and 2,591 had sickle cell disease (1:1,400). There were 193 deaths (7.4%): 153 with SS/Sβ(0)-thalassemia, 34 SC and 6 Sβ(+)thalassemia; 76.7% were younger than five years; 78% died in the hospital and 21% at home or in transit. The main causes of death were infection (45%), indeterminate (28%), and acute splenic sequestration (14%). In 46% of death certificates, the term "sickle cell" was not recorded. Seven-year death rate for children born between 1998 and 2005 was 5.43% versus 5.12% for those born between 2005 and 2012 (p = 0.72). Medical care was provided to 75% of children; 24% were unassisted. Medical care was provided within 6 hours of symptom onset in only half of the interviewed cases. In 40.5% of cases, death occurred within the first 24 hours. Low family income was recorded in 90% of cases, and illiteracy in 5%. Although comprehensive and effective, neonatal screening for sickle cell disease was not sufficient to significantly reduce mortality in a newborn screening program. Economic and social development and increase of the knowledge on sickle cell disease among health professionals and family are needed to overcome excessive mortality. Copyright © 2014 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.

  20. Characterization of mortality in children with sickle cell disease diagnosed through the Newborn Screening Program

    Directory of Open Access Journals (Sweden)

    Alessandra P. Sabarense

    2015-06-01

    Full Text Available OBJECTIVE: To characterize the deaths of 193 children with sickle cell disease screened by a neonatal program from 1998 to 2012 and contrast the initial years with the final years. METHODS: Deaths were identified by active surveillance of children absent to scheduled appointments in Blood Bank Clinical Centers (Hemominas. Clinical and epidemiological data came from death certificates, neonatal screening database, medical records, and family interviews. RESULTS: Between 1998 and 2012, 3,617,919 children were screened and 2,591 had sickle cell disease (1:1,400. There were 193 deaths (7.4%: 153 with SS/Sß0-talassemia, 34 SC and 6 Sß+thalassemia; 76.7% were younger than five years; 78% died in the hospital and 21% at home or in transit. The main causes of death were infection (45%, indeterminate (28%, and acute splenic sequestration (14%. In 46% of death certificates, the term "sickle cell" was not recorded. Seven-year death rate for children born between 1998 and 2005 was 5.43% versus 5.12% for those born between 2005 and 2012 (p = 0.72. Medical care was provided to 75% of children; 24% were unassisted. Medical care was provided within 6 hours of symptom onset in only half of the interviewed cases. In 40.5% of cases, death occurred within the first 24 hours. Low family income was recorded in 90% of cases, and illiteracy in 5%. CONCLUSIONS: Although comprehensive and effective, neonatal screening for sickle cell disease was not sufficient to significantly reduce mortality in a newborn screening program. Economic and social development and increase of the knowledge on sickle cell disease among health professionals and family are needed to overcome excessive mortality.

  1. Pain management in children with sickle cell disease.

    Science.gov (United States)

    Stinson, Jennifer; Naser, Basem

    2003-01-01

    Sickle cell disease (SCD) is one of the most common inherited diseases worldwide. The disease is characterized by chronic hemolytic anemia, as well as acute and chronic complications. One of the most intractable problems encountered by children with SCD is the painful episode that results from tissue ischemia due to vaso-occlusion. Pain related to SCD is unique among pain syndromes due to the unpredictable, recurrent, and often persistent nature of the disease, as well as the recurring and essential need for the use of opioids. Painful vaso-occlusive episodes (VOE) are a principal cause of morbidity and account for a significant number of emergency department and hospital admissions. When untreated or inadequately managed, the pain of VOE may cause both short- and long-term consequences. Despite the fact that pain is an almost universal feature of the disease, children with SCD may form one of the most undertreated and understudied populations. One of the factors contributing to poor pain management is conflicting perceptions between patients, their families, and healthcare professionals about pain that is reported and analgesia that is required. Pain management guidelines have recently been published in an effort to overcome barriers in the assessment and management of pain related to SCD. Although there is considerable variability in the way SCD pain is managed, the standard treatment protocol for painful episodes has been rest, rehydration, and analgesia. However, pain control for children with SCD is often a difficult and complex process, and one that requires frequent systematic pain assessments and continuous adjustment of comfort measures, especially analgesics. There are a variety of analgesic agents to choose from, such as acetaminophen (paracetamol), oral or parenteral nonsteroidal anti-inflammatory drugs, and oral or parenteral opioids. Each of these options has advantages and disadvantages to their use. Continuous infusions of analgesics and patient

  2. Cellular function reinstitution of offspring red blood cells cloned from the sickle cell disease patient blood post CRISPR genome editing

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    Jianguo Wen

    2017-06-01

    Full Text Available Abstract Background Sickle cell disease (SCD is a disorder of red blood cells (RBCs expressing abnormal hemoglobin-S (HbS due to genetic inheritance of homologous HbS gene. However, people with the sickle cell trait (SCT carry a single allele of HbS and do not usually suffer from SCD symptoms, thus providing a rationale to treat SCD. Methods To validate gene therapy potential, hematopoietic stem cells were isolated from the SCD patient blood and treated with CRISPR/Cas9 approach. To precisely dissect genome-editing effects, erythroid progenitor cells were cloned from single colonies of CRISPR-treated cells and then expanded for simultaneous gene, protein, and cellular function studies. Results Genotyping and sequencing analysis revealed that the genome-edited erythroid progenitor colonies were converted to SCT genotype from SCD genotype. HPLC protein assays confirmed reinstallation of normal hemoglobin at a similar level with HbS in the cloned genome-edited erythroid progenitor cells. For cell function evaluation, in vitro RBC differentiation of the cloned erythroid progenitor cells was induced. As expected, cell sickling assays indicated function reinstitution of the genome-edited offspring SCD RBCs, which became more resistant to sickling under hypoxia condition. Conclusions This study is an exploration of genome editing of SCD HSPCs.

  3. AETIOPATHOGENESIS OF FEVER IN HOSPITALISED SICKLE CELL DISEASE CHILDREN REVISITED WITH SPECIAL REFERENCE TO BLOOD CULTURE

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    Sadhana Panda

    2017-10-01

    Full Text Available BACKGROUND Sickle Cell Disease (SCD poses a considerable health burden in India. The sickle gene is widespread among many tribal population groups in India with prevalence of heterozygotes varying from 1-40 percent. The disease has multiple acute and chronic complications, including haemolytic crises, severe pain, renal complications, thromboembolic phenomenon and overwhelming infections; some complications of SCD generate high mortality. MATERIALS AND METHODS This is a cross-sectional, hospital inpatient based, observational study. Convenience sampling technique was used to include 74 consecutively diagnosed cases of sickle cell disease children less than 14 years of age and suffering from fever. A blood culture was performed in each case prior to starting of antibiotics. RESULTS The present study comprised of 74 children with confirmed sickle cell disease admitted to ward with fever. The largest numbers of cases were between 1 to 3 years age group. Febrile episodes decreased as the age advanced. Around 30% of febrile patients presented with cough followed by 24% with pain in limbs. Anaemia was the most common physical finding (92% followed by splenomegaly in 86% cases. URTI being most common aetiology. Most common organism isolated by blood culture was Staph. aureus in 8 samples. CONCLUSION As because fever is a consistent finding in severe bacterial infections, extensive evaluation, early intervention in febrile SCD children may reduce the morbidity and mortality rates. Although, the greatest concern has traditionally been S. pneumoniae, effective vaccination has reduced its incidence. It is probably wise to treat all highly febrile children with sickle cell disease with antibiotics pending the results of blood culture. Strengthening of routine immunisation programme is needed.

  4. 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

  5. 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

  6. Nonmyeloablative HLA-matched sibling allogeneic hematopoietic stem cell transplantation for severe sickle cell phenotype.

    Science.gov (United States)

    Hsieh, Matthew M; Fitzhugh, Courtney D; Weitzel, R Patrick; Link, Mary E; Coles, Wynona A; Zhao, Xiongce; Rodgers, Griffin P; Powell, Jonathan D; Tisdale, John F

    2014-07-02

    Myeloablative allogeneic hematopoietic stem cell transplantation (HSCT) is curative for children with severe sickle cell disease, but toxicity may be prohibitive for adults. Nonmyeloablative transplantation has been attempted with degrees of preparative regimen intensity, but graft rejection and graft-vs-host disease remain significant. To determine the efficacy, safety, and outcome on end-organ function with this low-intensity regimen for sickle cell phenotype with or without thalassemia. From July 16, 2004, to October 25, 2013, 30 patients aged 16-65 years with severe disease enrolled in this nonmyeloablative transplant study, consisting of alemtuzumab (1 mg/kg in divided doses), total-body irradiation (300 cGy), sirolimus, and infusion of unmanipulated filgrastim mobilized peripheral blood stem cells (5.5-31.7 × 10(6) cells/kg) from human leukocyte antigen-matched siblings. The primary end point was treatment success at 1 year after the transplant, defined as a full donor-type hemoglobin for patients with sickle cell disease and transfusion independence for patients with thalassemia. The secondary end points were the level of donor leukocyte chimerism; incidence of acute and chronic graft-vs-host disease; and sickle cell-thalassemia disease-free survival, immunologic recovery, and changes in organ function, assessed by annual brain imaging, pulmonary function, echocardiographic image, and laboratory testing. Twenty-nine patients survived a median 3.4 years (range, 1-8.6), with no nonrelapse mortality. One patient died from intracranial bleeding after relapse. As of October 25, 2013, 26 patients (87%) had long-term stable donor engraftment without acute or chronic graft-vs-host disease. The mean donor T-cell level was 48% (95% CI, 34%-62%); the myeloid chimerism levels, 86% (95% CI, 70%-100%). Fifteen engrafted patients discontinued immunosuppression medication with continued stable donor chimerism and no graft-vs-host disease. The normalized hemoglobin and

  7. Cation depletion by the sodium pump in red cells with pathologic cation leaks. Sickle cells and xerocytes.

    Science.gov (United States)

    Joiner, C H; Platt, O S; Lux, S E

    1986-12-01

    The mechanism by which sickle cells and xerocytic red cells become depleted of cations in vivo has not been identified previously. Both types of cells exhibit elevated permeabilities to sodium and potassium, in the case of sickle cells, when deoxygenated. The ouabain-insensitive fluxes of sodium and potassium were equivalent, however, in both cell types under these conditions. When incubated 18 hours in vitro, sickle cells lost cations but only when deoxygenated. This cation depletion was blocked by ouabain, removal of external potassium, or pretreatment with 4,4'-diisothiocyanostilbene-2,2'-disulfonate, which blocks the increase in cation permeability induced by deoxygenation. The loss of cation exhibited by oxygenated xerocytes similarly incubated was also blocked by ouabain. These data support the hypothesis that the elevated "passive" cation fluxes of xerocytes and deoxygenated sickle cells are not directly responsible for cation depletion of these cells; rather, these pathologic leaks interact with the sodium pump to produce a net loss of cellular cation.

  8. 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

  9. Phenotypic Diversity of Sickle Cell Disease in Patients with a Double Heterozygosity for Hb S and Hb D-Punjab.

    Science.gov (United States)

    Torres, Lidiane S; Okumura, Jéssika V; Belini-Júnior, Édis; Oliveira, Renan G; Nascimento, Patrícia P; Silva, Danilo G H; Lobo, Clarisse L C; Oliani, Sonia M; Bonini-Domingos, Claudia R

    2016-09-01

    Phenotypic heterogeneity for sickle cell disease is associated to several genetic factors such as genotype for sickle cell disease, β-globin gene cluster haplotypes and Hb F levels. The coinheritance of Hb S (HBB: c.20A > T) and Hb D-Punjab (HBB: c.364G > C) results in a double heterozygosity, which constitutes one of the genotypic causes of sickle cell disease. This study aimed to assess the phenotypic diversity of sickle cell disease presented by carriers of the Hb S/Hb D-Punjab genotype and the Bantu [- + - - - -] haplotype. We evaluated medical records from 12 patients with sickle cell disease whose Hb S/Hb D-Punjab genotype and Bantu haplotype were confirmed by molecular analysis. Hb S and Hb D-Punjab levels were quantified by chromatographic analysis. Mean concentrations of Hb S and Hb D-Punjab were 44.8 ± 2.3% and 43.3 ± 1.8%, respectively. Painful crises were present in eight (66.7%) patients evaluated, representing the most common clinical event. Acute chest syndrome (ACS) was the second most prevalent manifestation, occurring in two individuals (16.7%). Three patients were asymptomatic, while another two exhibited greater diversity of severe clinical manifestations. Medical records here analyzed reported a significant clinical diversity in sickle cell disease ranging from the absence of symptoms to wide phenotypic variety. The sickle cell disease genotype, Bantu haplotype and hemoglobin (Hb) levels did not influence the clinical diversity. Thus, we concluded that the phenotypic variation in sickle cell disease was present within a specific genotype for disease regardless of the β-globin gene cluster haplotypes.

  10. Lectin-like oxidized low-density lipoprotein receptor (LOX-1) in sickle cell disease vasculopathy

    Science.gov (United States)

    Chen, Mingyi; Qiu, Hong; Lin, Xin; Nam, David; Ogbu-Nwobodo, Lucy; Archibald, Hannah; Joslin, Amelia; Wun, Ted; Sawamura, Tatsuya; Green, Ralph

    2017-01-01

    Lectin-like oxidized low-density lipoprotein (LDL) receptor-1 (LOX-1) is an endothelial receptor for oxidized LDL. Increased expression of LOX-1 has been demonstrated in atherosclerotic lesions and diabetic vasculopathy. In this study, we investigate the expression of LOX-1 receptor in sickle cell disease (SCD) vasculopathy. Expression of LOX-1 in brain vascular endothelium is markedly increased and LOX-1 gene expression is upregulated in cultured human brain microvascular endothelial cells by incubation with SCD erythrocytes. Also, the level of circulating soluble LOX-1 concentration is elevated in the plasma of SCD patients. Increased LOX-1 expression in endothelial cells is potentially involved in the pathogenesis of SCD vasculopathy. Soluble LOX-1 concentration in SCD may provide a novel biomarker for risk stratification of sickle cell vascular complications. PMID:27519944

  11. Red blood cell alloimmunization in sickle cell disease patients in ...

    African Journals Online (AJOL)

    Objective: Alloimmunization is a recognized complication of red blood cell (RBC) transfusion and causes delayed hemolytic transfusion reactions and provides problems sourcing compatible blood for future transfusions. The objective of this study was to determine the frequency of RBC alloimmunization in SCD patients in ...

  12. Review Of Consultations For Children With Sickle Cell Disease CHR Kenitra Morocco

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    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

  13. Implementation of Indigenous Electronic Medical Record System to Facilitate Care of Sickle Cell Disease Patients in Chhattisgarh.

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    Choubey, Mona; Mishra, Hrishikesh; Soni, Khushboo; Patra, Pradeep Kumar

    2016-02-01

    Sickle cell disease (SCD) is prevalent in central India including Chhattisgarh. Screening for SCD is being carried out by Government of Chhattisgarh. Electronic Medical Record (EMR) system was developed and implemented in two phases. Aim was to use informatics techniques and indigenously develop EMR system to improve the care of SCD patients in Chhattisgarh. EMR systems had to be developed to store and manage: i) huge data generated through state wide screening for SCD; ii) clinical data for SCD patients attending the outpatient department (OPD) of institute. 'State Wide Screening Data Interface' (SWSDI) was designed and implemented for storing and managing data generated through screening program. Further, 'Sickle Cell Patients Temporal Data Management System' (SCPTDMS) was developed and implemented for storing, managing and analysing sickle cell disease patients' data at OPD. Both systems were developed using VB.Net and MS SQL Server 2012. Till April 2015, SWSDI has data of 1294558 persons, out of which 121819 and 4087 persons are carriers and patients of sickle cell disease respectively. Similarly till June 2015, SCPTDMS has data of 3760 persons, of which 923 are sickle cell disease patients (SS) and 1355 are sickle cell carriers (AS). Both systems are proving to be useful in efficient storage, management and analysis of data for clinical and research purposes. The systems are an example of beneficial usage of medical informatics solutions for managing large data at community level.

  14. Dichloromethane as an antisickling agent in sickle cell hemoglobin

    Energy Technology Data Exchange (ETDEWEB)

    Schoenborn, B.P.; North, B.E.

    1977-01-01

    Observations are reported that show that dichloromethane (DCM) does have a significant effect on the oxygen binding properties of hemoglobin. At DCM pressures high enough to prevent or reverse sickling, DCM would lower the oxygen affinity of hemoglobin, therefore reducing oxygen transport at low oxygen pressure. This decrease in oxygen affinity might, however, increase the oxygen availability to tissue as long as a sufficiently large lung P/sub O/sub 2// is maintained. Crystallographic studies show that site D4 has a much lower affinity for DCM than site D3 while sites D1 and D2 show a higher affinity.

  15. Comparison of pregnancy outcomes in women with sickle cell disease and trait

    International Nuclear Information System (INIS)

    Zia, S.; Rafiq, M.

    2013-01-01

    Objective: To compare the pregnancy and neonatal outcome in sickle cell disease and trait women. Method: The retrospective comparative study was conducted at Abha General Hospital, Abha, Saudi Arabia, from January 2009 to December 2011. The records of women having sickle cell disease and trait were reviewed for antenatal and postnatal complications. Pregnancy and foetal outcome was also compared in both the groups. Chi-square, Fisher's Exact and Student's t tests were used for statistical analysis. Results: Out of 112 women, 57 (50.89%) had sickle cell disease and 55 (40.10%) had sickle cell trait. The mean gravidity and parity in the latter group (5.05+-3.51 and 3.2+-2.74 respectively) was more than double in the former group (2.89+-1.36 and 1.66+-0.96 respectively). There were significant differences in antenatal complications. In the disease group, anaemia was in 55 (96.5%) cases compared to 35 (63.6%) in the trait group. Significant number of women in the first group (n=41; 71.9%) experienced painful crisis in pregnancy compared to 4 (7.27 %) in the second group. Mean haemoglobin in the disease group was 8.35g/dl, while it was 9.96 g/dl in the other (p <0.01). The requirement of blood transfusion was higher in the former, 28 (38.6%) than in the latter 3 (5.54%). Frequency of pre-term delivery was only slightly higher in the disease group, 14 (28.57%) than in the trait women, 13(23.63%). The mean birth weight of babies of women with the disease and the trait was 2380 and 2480 grams. This 100 grams difference, however, was statistically insignificant. Conclusion: Patients with sickle cell disease had more antenatal complications than those with sickle cell trait, without affecting the foetal outcome. Though the trait is generally considered a benign disease, women need special care and attention during a stressful situation like pregnancy. (author)

  16. Splenectomy versus conservative management for acute sequestration crises in people with sickle cell disease.

    Science.gov (United States)

    Owusu-Ofori, Shirley; Remmington, Tracey

    2015-09-07

    Acute splenic sequestration crises are a complication of sickle cell disease, with high mortality rates and frequent recurrence in survivors of first attacks. Splenectomy and blood transfusion, with their consequences, are the mainstay of long-term management used in different parts of the world. This is a 2015 update of a Cochrane review first published in 2002, and previously updated in 2013. To assess whether splenectomy (total or partial), to prevent acute splenic sequestration crises in people with sickle cell disease, improved survival and decreased morbidity in people with sickle cell disease, as compared with regular blood transfusions. We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Haemoglobinopathies Trials Register, which comprises of references identified from comprehensive electronic database searches and handsearching relevant journals and abstract books of conference proceedings.Additional trials were sought from the reference lists of the trials and reviews identified by the search strategy.Date of the most recent search: 10 June 2015. All randomized or quasi-randomized controlled trials comparing splenectomy (total or partial) to prevent recurrence of acute splenic sequestration crises with no treatment or blood transfusions in people with sickle cell disease. No trials of splenectomy for acute splenic sequestration were found. No trials of splenectomy for acute splenic sequestration were found. Splenectomy, if full, will prevent further sequestration and if partial, may reduce the recurrence of acute splenic sequestration crises. However, there is a lack of evidence from trials showing that splenectomy improves survival and decreases morbidity in people with sickle cell disease. There is a need for a well-designed, adequately-powered, randomized controlled trial to assess the benefits and risks of splenectomy compared to transfusion programmes, as a means of improving survival and decreasing mortality from acute splenic

  17. Associations between environmental factors and hospital admissions for sickle cell disease

    Science.gov (United States)

    Piel, Frédéric B.; Tewari, Sanjay; Brousse, Valentine; Analitis, Antonis; Font, Anna; Menzel, Stephan; Chakravorty, Subarna; Thein, Swee Lay; Inusa, Baba; Telfer, Paul; de Montalembert, Mariane; Fuller, Gary W.; Katsouyanni, Klea; Rees, David C.

    2017-01-01

    Sickle cell disease is an increasing global health burden. This inherited disease is characterized by a remarkable phenotypic heterogeneity, which can only partly be explained by genetic factors. Environmental factors are likely to play an important role but studies of their impact on disease severity are limited and their results are often inconsistent. This study investigated associations between a range of environmental factors and hospital admissions of young patients with sickle cell disease in London and in Paris between 2008 and 2012. Specific analyses were conducted for subgroups of patients with different genotypes and for the main reasons for admissions. Generalized additive models and distributed lag non-linear models were used to assess the magnitude of the associations and to calculate relative risks. Some environmental factors significantly influence the numbers of hospital admissions of children with sickle cell disease, although the associations identified are complicated. Our study suggests that meteorological factors are more likely to be associated with hospital admissions for sickle cell disease than air pollutants. It confirms previous reports of risks associated with wind speed (risk ratio: 1.06/standard deviation; 95% confidence interval: 1.00–1.12) and also with rainfall (1.06/standard deviation; 95% confidence interval: 1.01–1.12). Maximum atmospheric pressure was found to be a protective factor (0.93/standard deviation; 95% confidence interval: 0.88–0.99). Weak or no associations were found with temperature. Divergent associations were identified for different genotypes or reasons for admissions, which could partly explain the lack of consistency in earlier studies. Advice to patients with sickle cell disease usually includes avoiding a range of environmental conditions that are believed to trigger acute complications, including extreme temperatures and high altitudes. Scientific evidence to support such advice is limited and

  18. The effect of alpha-thalassemia on cord blood red cell indices and interaction with sickle cell gene

    International Nuclear Information System (INIS)

    Quadri, Mohammad I.; Islam, Sherief I.A.M.; Nasserullah, Z.

    2000-01-01

    Alpha-thalassemia is known to be prevalent in the Eastern region of Saudi Arabia. There are no large scale reports regarding the effect of alpha-thalassemia on red cell indices of cord blood from Saudi Arabia. Similarly, there are reports regarding the interaction of alpha-thalassemia and the sickle-cell gene in relation to red cell indices in cord blood. To address these issues, we undertook a study on neonatal cold blood samples. In a prospective study, cord blood samples from 504 neonates from the Qatif area of the Eastern Province of Saudi Arabia were analyzed for complete blood counts (CBC) and cellulose acetate Hb electrophoresis. Hb S was confirmed by citrate agar Hb electrophoresis. There were 243 case samples with normal Hb electrophoresis (Hb A 27.2+- 7% and Hb F 72.6+-7.7%). Their mean Hb (g/dL), RBC (x10/L), Hct (%), MCV (pg), MCHC (g/dL), RDW-SD (fl) and RDW-CV (%) were 15.05+-1.6, 4.5+-0.5, 47.4+-5.3, 106+-8, 33.6+-2.3, 31.8+-1.7, 69.2+-9.5 and 17.9+-1.7, respectively. There were 136 cases with alpha-thalassemia trait (alphaTT), 57 cases with sickle cell trait (SCT) and 50 cases of sickle cell trait with alplha-thalassemia trait (SCT/ alphaTT). There were ten cases of Hb H disease (6 definite), including one with sickle cell disease (SCD) and two with SCT, Hb Bart's 23.9%-43.6%; four probable with Hb Bart's 10.9%-16.1% and one with SCT. The effect on red cell parameters in Hb H disease were most pronounced. In addition, there seven cases of SCD, four of whom had coexistent alpha-thalassemia trait (SCD/alphaTT). The prevalence of alpha-thalassemia in this cohort of Saudi population was 39.99%. Hb H disease appeared as common as SCD. Sickle cell gene was seen in 23.4% of neonatal samples. Apha-thalassemia gene significantly reduces MCH, MCV, RDW-SD, Hct, Hb and increase RBC count in both normal or sickle cell trait neonates. Generally, the variation of red cell parameters is directly proportional to the amount of Hb Bart's in the cord blood. Sickle cell

  19. Awareness, Knowledge, and Acceptance of Haematopoietic Stem Cell Transplantation for Sickle Cell Anaemia in Nigeria

    Directory of Open Access Journals (Sweden)

    Adewumi Adediran

    2016-01-01

    Full Text Available Background. Sickle cell anaemia (SCA is an inherited condition whose clinical manifestations arise from the tendency of haemoglobin to polymerize and deform red blood cells into characteristic sickle shape. Allogeneic bone marrow transplantation offers a cure. The aim of this study was to determine the level of awareness, knowledge, and acceptance of this beneficial procedure in Nigeria. Materials and Methods. This multicentre cross-sectional study was conducted in 7 tertiary hospitals in Nigeria in 2015. Approval was obtained from each institution’s research and ethics committee. A pretested structured questionnaire was administered to respondents aged 18 years and above and to the parents or guardians of those below 18 years of age. Results. There were 265 respondents comprising 120 males and 145 females. One hundred and seventy-one (64.5% respondents were aware of BMT for the treatment of SCA. About 67.8% (116 of 171 of those who were aware believed SCA can be cured with BMT (p=0.001 and 49.7% (85 of 171 of the respondents accepted BMT (p=0.001. Conclusion. Awareness of BMT in Nigeria is low when compared with reports from developed countries. The knowledge is poor and acceptance is low. With adequate information, improved education, and psychological support, more Nigerians will embrace BMT.

  20. Erythrokinetics, ferrokinetics and red cell survival in sickle cell anaemia under subtropical climatic conditions

    International Nuclear Information System (INIS)

    Cardenas, R.

    1975-01-01

    Ferrokinetic parameters were evaluated with 59 Fe and red-cell survival with 51 Cr by classical techniques in a total of 17 patients with sickle-cell disease. The mean plasma 59 Fe half-disappearance time in these patients was 29.5 min as compared with a normal value of 92 min, and the t1/2 51 Cr 8.0 days as compared with a normal value of 26.0 days. The mean red-cell iron turnover rate was elevated to 9 times normal. The increased destruction of red cells appeared to take place predominantly, though not entirely, in the spleen. Eight of the 17 patients studied were identified as having intercurrent complications, but these did not significantly affect the results of the investigations. A group of 5 boys in whom the red-cell iron turnover rate was elevated to a lesser degree than in the other patients were subjected to more detailed studies of plasma 59 Fe clearance with particular reference to ineffective erythropoiesis. In these patients, the plasma 59 Fe clearance curves showed precocious humps characteristic of ineffective erythropoiesis. Detailed analysis of the results indicated ineffective erythropoiesis corresponding to 3.6, 16.0, 22.6, 32.0 and 50.0 % of the iron initially taken up by the bone marrow. It is concluded that while the anaemia in most patients with sickle-cell disease is mainly due to shortened survival of the circulating red cells, with increased destruction of red cells in the spleen, ineffective erythropoiesis may none the less be an important factor determining the actual degree of this anaemia

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

    Directory of Open Access Journals (Sweden)

    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.

  2. 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.

  3. [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.

  4. Ethnomedicinal survey of medicinal plants used in the management of sickle cell disorder in Southern Nigeria.

    Science.gov (United States)

    Amujoyegbe, O O; Idu, M; Agbedahunsi, J M; Erhabor, J O

    2016-06-05

    The present study entails the medicinal plant species used to manage sickle cell disorder in Southern States of Nigeria. The ethnomedicinal information was gathered through multistage approach from three geopolitical zones of Southern Nigeria, which were purposively selected. Semi-structured questionnaires were administered on 500 respondents in 125 locations. The ethnomedicinal data collected were analyzed using quantitative value indices such as fidelity level (percentage) and use value. The information got was cross checked using literature search and other related materials. Five hundred respondents comprising 53.12% females and 46.88% males were observed. It was noted that 26.70% were illiterate while 73.30% had formal education. Seventy-nine percent is traditional healers, 27% herb traders and the other 4% are those who have awareness of sickle cell disease . One hundred and seventy five plant species belonging to 70 families, of which Fabaceae made up 26.76% and Euphorbiaceae 16.90% forming the highest occurrence. It was observed that leaves were the most common plant part used (69.10%) followed by root (15%) and stem bark (14%) in the preparation for sickle cell management. Majority (48.57%) of these plants were harvested from wild with 38.86% being trees. Citrus aurantifolia and Newbouldia laevis had highest use values of 0.69 and 0.64 respectively. Plants with the least use value (0.001) include Abrus canescens, Acacia xanthophloea, Aerva lanata and Axonopus compressus. The result of fidelity level values of the plant species for the management of Sickle Cell Disorder (SCD) revealed that Citrus aurantifolia had the highest value of 70.2% while Angraecum distichum and Axonopus compressus had the lowest Fidelity Level value of 0.18%. The study revealed that people in the studied areas were well grounded in the medicinal plants used to manage sickle cell disease. This study reported for the first time 102 plant species having anti-sickling potentials with

  5. Red blood cell alloimmunization among sickle cell Kuwaiti Arab patients who received red blood cell transfusion.

    Science.gov (United States)

    Ameen, Reem; Al Shemmari, Salem; Al-Bashir, Abdulaziz

    2009-08-01

    Sickle cell disease (SCD) is common in the Arabian Gulf region. Most cases require a red blood cell (RBC) transfusion, increasing the potential for RBC alloantibody development. The incidence of RBC alloimmunization among Kuwaiti Arab SCD patients is not yet known. This study retrospectively assessed the effect of using two different matching protocols on the incidence of alloimmunization among multiply transfused Kuwaiti Arab SCD patients. A total of 233 Kuwaiti Arab SCD patients were divided into two groups: Group 1 (n = 110) received RBC transfusion through standard ABO- and D-matched nonleukoreduced blood; Group 2 (n = 123) received RBCs matched for ABO, Rh, and K1 poststorage-leukoreduced blood. Multivariate analysis was performed on the factors associated with RBC alloimmunization and antibody specificity. Sixty-five percent of patients in Group 1 developed clinically significant RBC alloantibody with an increased prevalence in females; in patients in Group 2, 23.6% developed RBC alloantibodies (p = 0.01). In Group 1, 72 patients (65.5%) had alloantibodies directed against Rh and Kell systems (p = 0.01). Multivariate analysis further confirmed the results, showing that blood transfusion type and sex have significant effects on the rate of alloimmunizations. This study confirms the importance of selecting RBCs matched for Rh and Kell to reduce the risk of alloimmunizations among Kuwaiti Arab SCD patients.

  6. 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.

  7. 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.

  8. Lead Toxicity in the Pediatric Patient with Sickle Cell Disease: Unique Risks and Management.

    Science.gov (United States)

    Jung, Josephine Misun; Peddinti, Radhika

    2018-01-01

    Lead toxicity is the result of lead ingestion, one of the most common ingestions in the pediatric population. Nationwide and statewide efforts to recognize and curtail this epidemic have led to declining rates of toxicity. In patients with sickle cell disease (SCD), lead toxicity can be an elusive diagnosis due to overlapping symptom profiles, and inconsistent follow-up with a primary care physician can make the diagnosis even more difficult. In this article, two illustrative cases of lead toxicity in patients with SCD are described. The discussion reviews the current risk factors, screening, and inpatient management of lead toxicity, as well as describing the unique and sometimes confounding presentations of lead toxicity versus sickle cell crisis. [Pediatr Ann. 2018;47(1):e36-e40.]. Copyright 2018, SLACK Incorporated.

  9. Fulminant Hepatic Failure Attributed to Ackee Fruit Ingestion in a Patient with Sickle Cell Trait

    Directory of Open Access Journals (Sweden)

    Dianne E. Grunes

    2012-01-01

    Full Text Available We report a case of fulminant liver failure resulting in emergent liver transplantation following 3 weeks of nausea, vomiting, and malaise from Jamaican Vomiting Sickness. Jamaican Vomiting Sickness is caused by ingestion of the unripe arils of the Ackee fruit, its seeds and husks. It is characterized by acute gastrointestinal illness and hypoglycemia. In severe cases, central nervous system depression can occur. In previous studies, histologic sections taken from patients with Jamaican Vomiting Sickness have shown hepatotoxicity similar to that seen in Reye syndrome and/or acetaminophen toxicity. We highlight macroscopic and microscopic changes in the liver secondary to hepatoxicity of Ackee fruit versus those caused by a previously unknown sickle cell trait. We discuss the clinical variables and the synergistic hepatotoxic effect of Ackee fruit and ischemic injury from sickled red blood cells, causing massive hepatic necrosis in this patient.

  10. NSAID induced perforated peptic ulcer in a pediatric sickle cell patient

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    Crystal Johnson-Mann

    2016-11-01

    Full Text Available Peptic ulcer disease is a relatively rare entity in the pediatric population. Given the trend toward multimodal pain control for pain crises in Sickle Cell Disease patients, they are at an increased risk of developing complications secondary to peptic ulcer disease. We discuss a case of a Sickle Cell Disease patient on multimodal therapy that presented with a perforated peptic ulcer requiring emergent surgery. While multimodal therapy helps ease the dependency on narcotic pain medication, it does present other potential problems like potential bleeding or perforation. For those that can be categorized in this select group of patients, routine surveillance with esophagogastroduodenoscopy should be considered for those at highest risk to prevent devastating complications.

  11. Fertility and pregnancy in thalassaemia and sickle cell disease. The UK guidelines

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    Bernard Davis

    2014-12-01

    Full Text Available Progressive improvements in the health and survival of patients with thalassaemia and sickle cell disease have increased the reproductive prospects of affected individuals. However, pregnancy in these disorders is associated with significant maternal and fetal risks and expert management is required to ensure good outcomes. In the United Kingdom, it is recognised that the patchy geographical distribution of these conditions poses challenges for access to specialist care, including specialist obstetric services. Guidelines on the pregnancy management of thalassaemia and sickle cell disease in the UK have been published by the Royal College of Obstetricians and Gynaecologists. These guidelines describe the preconceptual, antenatal, intrapartum and postpartum aspects of care. They highlight the high-risk status of pregnancy in these conditions and emphasise the vital importance of specialist multidisciplinary care to the achievement of favourable maternal and fetal outcomes. The guidelines are a valuable resource to healthcare professionals, especially those working in low prevalence areas.

  12. 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

  13. Sickle-cell anaemia: an explanation for the ancient myth of reincarnation in Nigeria.

    Science.gov (United States)

    Onwubalili, J K

    1983-08-27

    The belief in reincarnation, widely held in Nigeria for many centuries, has waned in the past 30 years. It is most probable that the "reincarnate" child had sickle-cell anaemia, since this disease would explain all the clinical features and natural history of "reincarnation". Most reincarnate children died of Plasmodium falciparum or bacterial infection. The prevailing high birth rate and familial predisposition almost ensured that another sickler was born to the family. The widespread introduction of antimalarial chemoprophylaxis and therapy, the recognition of sickle-cell disease, and some measure of improvement in health care and socioeconomic standards have resulted in an increase in life expectancy for children with HbSS and consequently near-total total extinction of the people's belief in reincarnation.

  14. Osteomyelitis and infarction in sickle cell hemoglobinopathies: differentiation by combined technetium and gallium scintigraphy

    International Nuclear Information System (INIS)

    Amundsen, T.R.; Siegel, M.J.; Siegel, B.A.

    1984-01-01

    Clinical records and scintigrams were reviewed of 18 patients with sickle cell hemoglobinophaties who had undergone combined technetium and gallium scintigraphy during 22 separate episodes of suspected osseous infection. The combined scintigrams were correctly interpreted as indicating osteomyelitis in four studies. Of 18 studies in patients with infarction, the combined scintigrams were correctly interpreted in 16 and showed either no local accumulation of Ga-67 or less accumulation than that of Tc-99m MDP at symptomatic sites. In the other two studies, the scintigrams were falsely interpreted as indicating osteomyelitis and showed congruent, increased accumulation of both Tc-99, MDP and Ga-67. This pattern must be considered indeterminate. Overall, the results indicate that the combination of technetium and gallium scintigraphy is an effective means to distinguish osteomyelitis from infarction in patients with sickle cell hemoglobinopathies

  15. 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.)

  16. Otoacoustic emission testing in Ghanaian children with sickle-cell disease.

    Science.gov (United States)

    Kegele, Josua; Hurth, Helene; Lackner, Peter; Enimil, Anthony; Sylverkin, Justice; Ansong, Daniel; Nkyi, Clara; Bonsu, Benedicta; Agbenyega, Tsiri; Schartinger, Volker H; Schmutzhard, Erich; Zorowka, Patrick; Kremsner, Peter; Schmutzhard, Joachim

    2015-09-01

    To evaluate hearing loss in children as a complication of sickle-cell disease. In Kumasi, Ghana, 35 children with SCD aged 6 months to 10 years underwent transient-evoked otoacoustic emissions testing (TEOAE) to investigate the function of the inner ear. Healthy Ghanaian children recruited in school and kindergarten served as controls. One of 35 children with SCD and 13 of 115 control children failed the otoacoustic emissions testing. This difference between the control group and the children with SCD was not statistically significant. Early hearing impairment does not regularly occur in sickle-cell disease, and in children, it is not a likely cause of delayed or impaired language development. © 2015 John Wiley & Sons Ltd.

  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. 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. 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 ...

  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. Sickle Cell Trait, Rhabdomyolysis, and Mortality among U.S. Army Soldiers

    Science.gov (United States)

    Nelson, D. Alan; Deuster, Patricia A.; Carter, Robert; Hill, Owen T.; Wolcott, Vickee L.; Kurina, Lianne M.

    2016-01-01

    Background Studies have suggested that sickle cell trait elevates the risks of exertional rhabdomyolysis and death. We conducted a study of sickle cell trait in relation to these outcomes, controlling for known risk factors for exertional rhabdomyolysis, in a large population of active persons who had undergone laboratory tests for hemoglobin AS (HbAS) and who were subject to exertional-injury precautions. Methods We used Cox proportional-hazards models to test whether the risks of exertional rhabdomyolysis and death varied according to sickle cell trait status among 47,944 black soldiers who had undergone testing for HbAS and who were on active duty in the U.S. Army between January 2011 and December 2014. We used the Stanford Military Data Repository, which contains comprehensive medical and administrative data on all active-duty soldiers. Results There was no significant difference in the risk of death among soldiers with sickle cell trait, as compared with those without the trait (hazard ratio, 0.99; 95% confidence interval [CI], 0.46 to 2.13; P = 0.97), but the trait was associated with a significantly higher adjusted risk of exertional rhabdomyolysis (hazard ratio, 1.54; 95% CI, 1.12 to 2.12; P = 0.008). This effect was similar in magnitude to that associated with tobacco use, as compared with no use (hazard ratio, 1.54; 95% CI, 1.23 to 1.94; Prhabdomyolysis. (Funded by the National Heart, Lung, and Blood Institute and the Uniformed Services University of the Health Sciences.) PMID:27518662

  2. Osteonecrosis of the femoral head in sickle cell disease: prevalence, comorbidities, and surgical outcomes in California

    OpenAIRE

    Adesina, Oyebimpe; Brunson, Ann; Keegan, Theresa H. M.; Wun, Ted

    2017-01-01

    Osteonecrosis of the femoral head (ONFH) is a prevalent complication of sickle cell disease (SCD) that has not been well described in population-based cohort studies. Using California's Office of Statewide Planning and Development discharge databases (1991-2013), we estimated the cumulative incidence of ONFH after accounting for the competing risk of death and used a multivariable Cox proportional hazards regression to identify factors associated with ONFH diagnosis. We also calculated rates ...

  3. Low bone mass density is associated with hemolysis in brazilian patients with sickle cell disease

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    Gabriel Baldanzi

    2011-01-01

    Full Text Available OBJECTIVES: To determine whether kidney disease and hemolysis are associated with bone mass density in a population of adult Brazilian patients with sickle cell disease. INTRODUCTION: Bone involvement is a frequent clinical manifestation of sickle cell disease, and it has multiple causes; however, there are few consistent clinical associations between bone involvement and sickle cell disease. METHODS: Patients over 20 years of age with sickle cell disease who were regularly followed at the Hematology and Hemotherapy Center of Campinas, Brazil, were sorted into three groups, including those with normal bone mass density, those with osteopenia, and those with osteoporosis, according to the World Health Organization criteria. The clinical data of the patients were compared using statistical analyses. RESULTS: In total, 65 patients were included in this study: 12 (18.5% with normal bone mass density, 37 (57% with osteopenia and 16 (24.5% with osteoporosis. Overall, 53 patients (81.5% had bone mass densities below normal standards. Osteopenia and osteoporosis patients had increased lactate dehydrogenase levels and reticulocyte counts compared to patients with normal bone mass density (p<0.05. Osteoporosis patients also had decreased hemoglobin levels (p<0.05. Hemolysis was significantly increased in patients with osteoporosis compared with patients with osteopenia, as indicated by increased lactate dehydrogenase levels and reticulocyte counts as well as decreased hemoglobin levels. Osteoporosis patients were older, with lower glomerular filtration rates than patients with osteopenia. There was no significant difference between the groups with regard to gender, body mass index, serum creatinine levels, estimated creatinine clearance, or microalbuminuria. CONCLUSION: A high prevalence of reduced bone mass density that was associated with hemolysis was found in this population, as indicated by the high lactate dehydrogenase levels, increased

  4. Cellular normoxic biophysical markers of hydroxyurea treatment in sickle cell disease

    OpenAIRE

    Hosseini, Poorya; Abidi, Sabia Z.; Du, E; Papageorgiou, Dimitrios P.; Choi, Youngwoon; Park, YongKeun; Higgins, John M.; Kato, Gregory J.; Suresh, Subra; Dao, Ming; Yaqoob, Zahid; So, Peter T. C.

    2016-01-01

    There exists a critical need for developing biomarkers reflecting clinical outcomes and for evaluating the effectiveness of treatments for sickle cell disease patients. Prior attempts to find such patient-specific markers have mostly relied upon chemical biomarkers or biophysical properties at hypoxia with limited success. We introduce unique biomarkers based on characterization of cellular biophysical properties at normoxia and show that these markers correlate sensitively with treatment usi...

  5. Current Standards of Care and Long Term Outcomes for Thalassemia and Sickle Cell Disease.

    Science.gov (United States)

    Chonat, Satheesh; Quinn, Charles T

    2017-01-01

    Thalassemia and sickle cell disease (SCD) are disorders of hemoglobin that affect millions of people worldwide. The carrier states for these diseases arose as common, balanced polymorphisms during human history because they afforded protection against severe forms of malaria. These complex, multisystem diseases are reviewed here with a focus on current standards of clinical management and recent research findings. The importance of a comprehensive, multidisciplinary and lifelong system of care is also emphasized.

  6. 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...

  7. Case report 496: Intraosseous gas in Proteus mirabilis osteomyelitis complicating bone infarcts in sickle cell disease

    International Nuclear Information System (INIS)

    Marx, A.C.; Hartshorne, M.F.; Stull, M.A.; Truwit, C.L.

    1988-01-01

    Plain film radiographs showed dramatic changes of this rare complication of sickle cell disease in an adult patient, eventually resulting in bilateral amputations of the lower extremities. Cross table radiographs of the knees showed the air-fluid levels without soft tissue swelling or periosteal reaction. The balance of the studies performed confirmed and refined the initial impression that infarction and infection had occurred within the medullary spaces of four long bones. The offending organism was Proteus mirabilis. (orig.)

  8. Case report 496: Intraosseous gas in Proteus mirabilis osteomyelitis complicating bone infarcts in sickle cell disease

    Energy Technology Data Exchange (ETDEWEB)

    Marx, A.C.; Hartshorne, M.F.; Stull, M.A.; Truwit, C.L.

    1988-10-01

    Plain film radiographs showed dramatic changes of this rare complication of sickle cell disease in an adult patient, eventually resulting in bilateral amputations of the lower extremities. Cross table radiographs of the knees showed the air-fluid levels without soft tissue swelling or periosteal reaction. The balance of the studies performed confirmed and refined the initial impression that infarction and infection had occurred within the medullary spaces of four long bones. The offending organism was Proteus mirabilis.

  9. Giant oral tumor in a child with malnutrition and sickle cell trait: Anesthetic challenges

    Directory of Open Access Journals (Sweden)

    Preet Mohinder Singh

    2013-01-01

    Full Text Available Pediatric oral tumors have always been challenging for the even most skilled anesthesiologists. The conventional method of awake intubation is not realistic in this age group. The management is to chart out a plan to intubate the child post induction. We describe successful management of a case of giant of ossifying fibroma in a child with sickle cell trait where non-conventional innovate approach helped us to secure the airway pre-operatively and avoid possible medical complications.

  10. Quality of assistance provided to children with sickle cell disease by primary healthcare services

    Directory of Open Access Journals (Sweden)

    Ludmila Mourão Xavier Gomes

    2011-01-01

    Full Text Available OBJECTIVE: To evaluate the quality of healthcare provided to sickle cell disease children by primary healthcare services in a region of high prevalence. METHODS: A cross-sectional, descriptive study was performed by interviewing members of families with sickle cell disease children. The children had been identified from the Neonatal Screening Program in Minas Gerais state over the last 12 years in towns of the Montes Claros-Bocaiuva microregion. A structured questionnaire specially developed for this study and based on three axes was used: indicators of the child's health (immunization, growth and development, prophylaxis antibiotic therapy, perception of care by the family (health education and accessibility and knowledge of the family about the disease. RESULTS: Sixty-three of 71 families with children identified as having sickle cell disease were interviewed. The predominant genotypes were Hb SS (44.4% and Hb SC (41.2%. Adequate monitoring of growth and development was recorded for the first year of life in 23 children (36.6% and for the second year of life in 18 children (28.6%. The basic vaccination schedule was completed by 44 children (69.8% but 62 vaccination record cards (98.4% identified delays of special vaccines. Regular use of prophylactic penicillin was reported by 55 caregivers (87.3%. The family's perception of the care provided suggests poor accessibility to health services and lack of opportunities to answer doubts. The average performance of families in knowledge testing was 59.8%. CONCLUSION: The quality of healthcare is unsatisfactory. The care provided to children with sickle cell disease in primary healthcare services needs improvements.

  11. 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...

  12. 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

  13. 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.

  14. Clinic Attendance of Youth With Sickle Cell Disease on Hydroxyurea Treatment.

    Science.gov (United States)

    Ingerski, Lisa M; Arnold, Trisha L; Banks, Gabrielle; Porter, Jerlym S; Wang, Winfred C

    2017-07-01

    The objective of this study is to describe rates of clinic attendance of youth with sickle cell disease prescribed hydroxyurea and examine potential demographic and medical factors related to consistent clinic attendance. Participants included 148 youth diagnosed with sickle cell disease and prescribed hydroxyurea during a single calendar year. Clinic attendance and potential demographic and medical factors related to attendance were extracted via systematic retrospective medical chart review. Youth attended 90.3% of scheduled appointments and 85.1% of youth attended at least 80% of scheduled clinic appointments during the study window. Adjusting for other factors, multivariate analysis revealed families with fewer children in the household, families with private insurance, youth experiencing fever, and youth not experiencing pain during the calendar year were more likely to consistently attend clinic visits. Adherence to clinic appointments is critical to optimizing health outcomes for youth with sickle cell disease and integral for adequate monitoring of youth prescribed hydroxyurea, in particular. Findings may aid providers in appropriately identifying possible barriers to clinic attendance to develop attendance promotion interventions.

  15. [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.

  16. Risk Factors for 30-Day Readmission in Adults with Sickle Cell Disease.

    Science.gov (United States)

    Brodsky, Max A; Rodeghier, Mark; Sanger, Maureen; Byrd, Jeannie; McClain, Brandi; Covert, Brittany; Roberts, Dionna O; Wilkerson, Karina; DeBaun, Michael R; Kassim, Adetola A

    2017-05-01

    Readmission to the hospital within 30 days is a measure of quality care; however, only few modifiable risk factors for 30-day readmission in adults with sickle cell disease are known. We performed a retrospective review of the medical records of adults with sickle cell disease at a tertiary care center, to identify potentially modifiable risk factors for 30-day readmission due to vasoocclusive pain episodes. A total of 88 patients ≥18 years of age were followed for 3.5 years between 2010 and 2013, for 158 first admissions for vasoocclusive pain episodes. Of these, those subsequently readmitted (cases) or not readmitted (controls) within 30 days of their index admissions were identified. Seven risk factors were included in a multivariable model to predict readmission: age, sex, hemoglobin phenotype, median oxygen saturation level, listing of primary care provider, type of health insurance, and number of hospitalized vasoocclusive pain episodes in the prior year. Mean age at admission was 31.7 (18-59) years; median time to readmission was 11 days (interquartile range 20 days). Absence of a primary care provider listed in the electronic medical record (odds ratio 0.38; 95% confidence interval, 0.16-0.91; P = .030) and the number of vasoocclusive pain episodes requiring hospitalization in the prior year were significant risk factors for 30-day readmission (odds ratio 1.30; 95% confidence interval, 1.16-1.44; P readmission rate in adults with sickle cell disease. Copyright © 2017 Elsevier Inc. All rights reserved.

  17. 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)

  18. Cormic Index Profile of Children with Sickle Cell Anaemia in Lagos, Nigeria

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    Samuel Olufemi Akodu

    2014-01-01

    Full Text Available Background. Sickle cell disorders are known to have a negative effect on linear growth. This could potentially affect proportional growth and, hence, Cormic Index. Objective. To determine the Cormic Index in the sickle cell anaemia population in Lagos. Methodology. A consecutive sample of 100 children with haemoglobin genotype SS, aged eight months to 15 years, and 100 age and sex matched controls (haemoglobin genotype AA was studied. Sitting height (upper segment and full length or height were measured. Sitting height was then expressed as a percentage of full length/height (Cormic Index. Results. The mean Cormic Index decreased with age among primary subjects (SS and AA controls. The overall mean Cormic Index among primary subjects was comparable to that of controls (55.0±4.6% versus 54.5±5.2%; 54.8±4.5% versus 53.6±4.9% in boys and girls, respectively. In comparison with AA controls, female children with sickle cell anaemia who were older than 10 years had a significantly lower mean Cormic Index. Conclusion. There was a significant negative relationship between Cormic Index and height in subjects and controls irrespective of gender. Similarly, a significant negative correlation existed between age, sitting height, subischial leg length, weight, and Cormic Index in both subjects and controls.

  19. Resignifying the sickle cell gene: Narratives of genetic risk, impairment and repair.

    Science.gov (United States)

    Berghs, Maria; Dyson, Simon M; Atkin, Karl

    2017-03-01

    Connecting theoretical discussion with empirical qualitative work, this article examines how sickle cell became a site of public health intervention in terms of 'racialised' risks. Historically, sickle cell became socio-politically allied to ideas of repair, in terms of the state improving the health of a neglected ethnic minority population. Yet, we elucidate how partial improvements in care and education arose alongside preventative public health screening efforts. Using qualitative research based in the United Kingdom, we show how a focus on collective efforts of repair can lie in tension with how services and individuals understand and negotiate antenatal screening. We illustrate how screening for sickle cell disorder calls into question narrative identity, undoing paradigms in which ethnicity, disablement and genetic impairment become framed. Research participants noted that rather than 'choices', it is 'risks' and their negotiation that are a part of discourses of modernity and the new genetics. Furthermore, while biomedical paradigms are rationally and ethically (de)constructed by participants, this was never fully engaged with by professionals, contributing to overall perception of antenatal screening as disempowering and leading to disengagement.

  20. Chronic brain damage in sickle cell disease and its relation with quality of life.

    Science.gov (United States)

    Cela, Elena; Vélez, Ana G; Aguado, Alejandra; Medín, Gabriela; Bellón, José M; Beléndez, Cristina

    2016-12-16

    Sickle cell anaemia causes progressive organ damage. The objective is to describe school performance of patients with sickle cell anaemia and their clinical parameters and quality of life that may have an influence. The hypothesis is that if school alterations occur without other objective data, additional factors must be present besides the disease itself. Transversal study performed in November 2015 considering analytical variables, complications and neuroradiological images of children with sickle cell anaemia, and family survey on school performance and quality of life. Median age was 6.8 years and 78% were diagnosed at birth. Sixty patients were included. School performance was altered in 51% of cases and was related to nocturnal hypoxemia. Acute stroke incidence was 6.7%. Transcranial ultrasound was abnormal in 4% of cases and magnetic resonance imaging in 16% of cases. Quality of life showed pathological findings in all areas and the low values increased proportionally in older ages. The stroke affected the physical and social sphere, and lung disease affected the physical and emotional spheres. Poor school performance affects half of the patients and it is related to nocturnal hypoxemia, although other socio-cultural factors may have an influence. Quality of life is affected in most of these cases independently of academic results. The absence of alterations in neuroimaging or the apparent lack of severe clinical parameters do not mean that quality of life and schooling are normal. Copyright © 2016 Elsevier España, S.L.U. All rights reserved.