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Sample records for anemia disease locus

  1. Targeted resequencing and analysis of the Diamond-Blackfan anemia disease locus RPS19.

    Directory of Open Access Journals (Sweden)

    Alvaro Martinez Barrio

    Full Text Available BACKGROUND: The Ribosomal protein S19 gene locus (RPS19 has been linked to two kinds of red cell aplasia, Diamond-Blackfan Anemia (DBA and Transient Erythroblastopenia in Childhood (TEC. Mutations in RPS19 coding sequences have been found in 25% of DBA patients, but not in TEC patients. It has been suggested that non-coding RPS19 sequence variants contribute to the considerable clinical variability in red cell aplasia. We therefore aimed at identifying non-coding variations associated with DBA or TEC phenotypes. METHODOLOGY/PRINCIPAL FINDINGS: We targeted a region of 19'980 bp encompassing the RPS19 gene in a cohort of 89 DBA and TEC patients for resequencing. We provide here a catalog of the considerable, previously unrecognized degree of variation in this region. We identified 73 variations (65 SNPs, 8 indels that all are located outside of the RPS19 open reading frame, and of which 67.1% are classified as novel. We hypothesize that specific alleles in non-coding regions of RPS19 could alter the binding of regulatory proteins or transcription factors. Therefore, we carried out an extensive analysis to identify transcription factor binding sites (TFBS. A series of putative interaction sites coincide with detected variants. Sixteen of the corresponding transcription factors are of particular interest, as they are housekeeping genes or show a direct link to hematopoiesis, tumorigenesis or leukemia (e.g. GATA-1/2, PU.1, MZF-1. CONCLUSIONS: Specific alleles at predicted TFBSs may alter the expression of RPS19, modify an important interaction between transcription factors with overlapping TFBS or remove an important stimulus for hematopoiesis. We suggest that the detected interactions are of importance for hematopoiesis and could provide new insights into individual response to treatment.

  2. Anemia in Chronic Kidney Disease

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    ... High Blood Pressure Heart Disease Mineral & Bone Disorder Anemia in Chronic Kidney Disease What is anemia? Anemia is a condition in which the body ... function as well as they should. How is anemia related to chronic kidney disease? Anemia commonly occurs ...

  3. Understanding anemia of chronic disease.

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    Fraenkel, Paula G

    2015-01-01

    The anemia of chronic disease is an old disease concept, but contemporary research in the role of proinflammatory cytokines and iron biology has shed new light on the pathophysiology of the condition. Recent epidemiologic studies have connected the anemia of chronic disease with critical illness, obesity, aging, and kidney failure, as well as with the well-established associations of cancer, chronic infection, and autoimmune disease. Functional iron deficiency, mediated principally by the interaction of interleukin-6, the iron regulatory hormone hepcidin, and the iron exporter ferroportin, is a major contributor to the anemia of chronic disease. Although anemia is associated with adverse outcomes, experimental models suggest that iron sequestration is desirable in the setting of severe infection. Experimental therapeutic approaches targeting interleukin-6 or the ferroportin-hepcidin axis have shown efficacy in reversing anemia in either animal models or human patients, although these agents have not yet been approved for the treatment of the anemia of chronic disease.

  4. Anemia of Chronic Liver Diseases

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    Shin, Hyun Chung; Lee, Jhung Sang; Koh, Chang Soon; Lee, Mun Ho [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    1971-09-15

    The pathogenetic mechanisms of anemia in patients with chronic liver disease were observed. Seventeen patients with moderate to advanced hepatic diseases were studied by various methods. Only patients without previous blood loss were included : 14 had cirrhosis, 2 had active chronic hepatitis, and one had inferior vena cava obstruction with associated liver cirrhosis. The followings were the results: 1. The anemia based on red blood cell count, Hb., and Ht. was found in 76.5-78.6% of the patients. 2. Red cell indices indicated that normo-macrocytic and normochromic anemia was present is the majority of the patients. 3. No evidence of megaloblastic anemia was found on the basis of the morphological examinations. 4. Serum iron, TIBC, % saturation and iron content in the bone marrow indicated that iron deficiency anemia was present in about half of the patients. 5. In the view of the erythrocyte dynamics, primary increase in the red cell destruction was ascribed to the cause of the anemia. 6. Decrease in the red cell survival time was not correlated with MCV, % saturation and S.L. ratio. Also, hemoglobin level was not correlated with MCV, % saturation and T{sub 50} Cr. Therefore, multiple causes may be involved in the pathogenesis of the anemia. 7. Anemia as determined by the red cell volume was found in only 60% of the patients. It may be possible that hemodilutional anemia is present.

  5. The Lbw2 locus promotes autoimmune hemolytic anemia.

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    Scatizzi, John C; Haraldsson, Maria K; Pollard, K Michael; Theofilopoulos, Argyrios N; Kono, Dwight H

    2012-04-01

    The lupus-prone New Zealand Black (NZB) strain uniquely develops a genetically imposed severe spontaneous autoimmune hemolytic anemia (AIHA) that is very similar to the corresponding human disease. Previous studies have mapped anti-erythrocyte Ab (AEA)-promoting NZB loci to several chromosomal locations, including chromosome 4; however, none of these have been analyzed with interval congenics. In this study, we used NZB.NZW-Lbw2 congenic (designated Lbw2 congenic) mice containing an introgressed fragment of New Zealand White (NZW) on chromosome 4 encompassing Lbw2, a locus previously linked to survival, glomerulonephritis, and splenomegaly, to investigate its role in AIHA. Lbw2 congenic mice exhibited marked reductions in AEAs and splenomegaly but not in anti-nuclear Abs. Furthermore, Lbw2 congenics had greater numbers of marginal zone B cells and reduced expansion of peritoneal cells, particularly the B-1a cell subset at early ages, but no reduction in B cell response to LPS. Analysis of a panel of subinterval congenic mice showed that the full effect of Lbw2 on AEA production was dependent on three subloci, with splenomegaly mapping to two of the subloci and expansions of peritoneal cell populations, including B-1a cells to one. These results directly demonstrated the presence of AEA-specific promoting genes on NZB chromosome 4, documented a marked influence of background genes on autoimmune phenotypes related to Lbw2, and further refined the locations of the underlying genetic variants. Delineation of the Lbw2 genes should yield new insights into both the pathogenesis of AIHA and the nature of epistatic interactions of lupus-modifying genetic variants.

  6. Anemia of chronic disease

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    ... disease Long-term infections, such as bacterial endocarditis, osteomyelitis (bone infection), HIV/AIDS , hepatitis B or hepatitis ... disease Crohn disease Erythropoietin test Juvenile idiopathic arthritis Osteomyelitis Rheumatic fever Ulcerative colitis Review Date 2/1/ ...

  7. Anemia

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    ... Hemolytic anemia Idiopathic aplastic anemia Megaloblastic anemia Pernicious anemia Sickle cell anemia Thalassemia Causes Although many parts of the ... anemia Immune hemolytic anemia Iron deficiency anemia Pernicious anemia Sickle cell anemia Vitamin B12 deficiency anemia Review Date 2/ ...

  8. Anemia in children with chronic kidney disease

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    Koshy, Susan M.; Geary, Denis F.

    2007-01-01

    Anemia is a common feature of chronic kidney disease, but the management of anemia in children is complex. Erythropoietin and supplemental iron are used to maintain hemoglobin levels. The National Kidney Foundation-Kidney Disease Outcomes Quality Initiative (NKF-KDOQI) clinical practice guidelines for the management of anemia specifically in children were recently published. Pediatric nephrologists are encouraged to use current clinical practice guidelines and best evidence in conjunction wit...

  9. Anemia y enfermedad inflamatoria intestinal Anemia and inflammatory bowel disease

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    F. de la Morena

    2008-05-01

    Full Text Available La anemia es una de las complicaciones más comunes de la enfermedad inflamatoria intestinal. La alta frecuencia de valores bajos de hemoglobina en estos enfermos provoca en muchas ocasiones una infravaloración por parte del médico de esta circunstancia, lo que se traduce en la falta de un tratamiento eficaz. Por otro lado, el carácter complejo de los mecanismos de producción de la anemia en la enfermedad inflamatoria intestinal con frecuencia plantea dudas acerca del tratamiento más adecuado. La identificación correcta de los pacientes con anemia así como la instauración del tratamiento más idóneo serán los dos pilares fundamentales para la mejoría de la calidad de vida de los enfermos. El uso correcto de los suplementos de hierro y las nuevas formulaciones de hierro parenteral, con o sin eritropoyetina asociada, han revolucionado nuestro abordaje de esta complicación evolutiva de la enfermedad inflamatoria intestinalAnemia is a most common complication of inflammatory bowel disease. A high frequency of low hemoglobin values in these patients often leads physicians to subestimate this condition, which translates into ineffective treatment. On the other hand, the complex nature of anemia-inducing mechanisms in inflammatory bowel disease frequently raises doubt about the most appropriate therapy. A correct identification of patients with anemia, and adequate therapy are the essential pillars for improved quality of life. The right use of iron supplementation, and novel parenteral iron formulations, either with or without associated erythropoietin, have revolutionized our approach of this complication in the course of inflammatory bowel disease

  10. Anemia of Inflammation and Chronic Disease

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    ... and Prevention website. www.cdc.gov/chronicdisease/overview/index.htm . Updated August 13, 2012. Accessed July 24, 2013. [3] Besarab A, Coyne DW. Iron supplementation to treat anemia in patients with chronic kidney disease. Nature Reviews ...

  11. Iron deficiency anemia in celiac disease.

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    Freeman, Hugh James

    2015-08-21

    Iron is an important micronutrient that may be depleted in celiac disease. Iron deficiency and anemia may complicate well-established celiac disease, but may also be the presenting clinical feature in the absence of diarrhea or weight loss. If iron deficiency anemia occurs, it should be thoroughly evaluated, even if celiac disease has been defined since other superimposed causes of iron deficiency anemia may be present. Most often, impaired duodenal mucosal uptake of iron is evident since surface absorptive area in the duodenum is reduced, in large part, because celiac disease is an immune-mediated disorder largely focused in the proximal small intestinal mucosa. Some studies have also suggested that blood loss may occur in celiac disease, sometimes from superimposed small intestinal disorders, including ulceration or neoplastic diseases, particularly lymphoma. In addition, other associated gastric or colonic disorders may be responsible for blood loss. Rarely, an immune-mediated hemolytic disorder with increased urine iron loss may occur that may respond to a gluten-free diet. Reduced expression of different regulatory proteins critical in iron uptake has also been defined in the presence and absence of anemia. Finally, other rare causes of microcytic anemia may occur in celiac disease, including a sideroblastic form of anemia reported to have responded to a gluten-free diet.

  12. Iron deficiency anemia in celiac disease

    Science.gov (United States)

    Freeman, Hugh James

    2015-01-01

    Iron is an important micronutrient that may be depleted in celiac disease. Iron deficiency and anemia may complicate well-established celiac disease, but may also be the presenting clinical feature in the absence of diarrhea or weight loss. If iron deficiency anemia occurs, it should be thoroughly evaluated, even if celiac disease has been defined since other superimposed causes of iron deficiency anemia may be present. Most often, impaired duodenal mucosal uptake of iron is evident since surface absorptive area in the duodenum is reduced, in large part, because celiac disease is an immune-mediated disorder largely focused in the proximal small intestinal mucosa. Some studies have also suggested that blood loss may occur in celiac disease, sometimes from superimposed small intestinal disorders, including ulceration or neoplastic diseases, particularly lymphoma. In addition, other associated gastric or colonic disorders may be responsible for blood loss. Rarely, an immune-mediated hemolytic disorder with increased urine iron loss may occur that may respond to a gluten-free diet. Reduced expression of different regulatory proteins critical in iron uptake has also been defined in the presence and absence of anemia. Finally, other rare causes of microcytic anemia may occur in celiac disease, including a sideroblastic form of anemia reported to have responded to a gluten-free diet. PMID:26309349

  13. Anemia Due to Excessive Bleeding

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    ... Anemia Vitamin Deficiency Anemia Anemia of Chronic Disease Aplastic Anemia Autoimmune Hemolytic Anemia Sickle Cell Disease Hemoglobin C, S- ... Anemia Vitamin Deficiency Anemia Anemia of Chronic Disease Aplastic Anemia Autoimmune Hemolytic Anemia Sickle Cell Disease Hemoglobin C, S- ...

  14. Anemia of Chronic Disease and Iron Deficiency Anemia in Inflammatory Bowel Diseases: Pathophysiology, Diagnosis, and Treatment.

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    Murawska, Natalia; Fabisiak, Adam; Fichna, Jakub

    2016-05-01

    Anemia coexists with inflammatory bowel disease (IBD) in up to two-thirds of patients, significantly impairing quality of life. The most common types of anemia in patients with IBD are iron deficiency anemia and anemia of chronic disease, which often overlap. In most cases, available laboratory tests allow successful diagnosis of iron deficiency, where difficulties appear, recently established indices such as soluble transferrin-ferritin ratio or percentage of hypochromic red cells are used. In this review, we discuss the management of the most common types of anemia in respect of the latest available data. Thus, we provide the mechanisms underlying pathophysiology of these entities; furthermore, we discuss the role of hepcidin in developing anemia in IBD. Next, we present the treatment options for each type of anemia and highlight the importance of individual choice of action. We also focus on newly developed intravenous iron preparations and novel, promising drug candidates targeting hepcidin. Concurrently, we talk about difficulties in differentiating between the true and functional iron deficiency, and discuss tools facilitating the process. Finally, we emphasize the importance of proper diagnosis and treatment of anemia in IBD. We conclude that management of anemia in patients with IBD is tricky, and appropriate screening of patients regarding anemia is substantial.

  15. [Biermer's disease and autoimmune hemolytic anemia].

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    Nafil, Hatim; Tazi, Illias; Mahmal, Lahoucine

    2012-01-01

    Biermer's disease is an autoimmune atrophic gastritis of the fundus predominantly responsible for a malabsorption of vitamin B12. Despite its association with several autoimmune disorders, few observations have reported an association with autoimmune hemolytic anemia (AIHA). We report a case of Biermer's disease associated with AIHA in a patient of 66 years old.

  16. Myocardial disease,anemia and heart failure

    Institute of Scientific and Technical Information of China (English)

    Donald S Silverberg; Dov Wexler; Adrian Iaina; Doron Schwartz

    2005-01-01

    Abstract Many patients with congestive heart failure (CHF) fail to respond to maximal CHF therapy and progress to end stage CHF with many hospitalizations, very poor quality of life, end stage renal failure, or die of cardiovascular complications within a short time. One factor that has generally been ignored in many of these patients is the fact that they are often anemic.The anemia is due mainly to renal failure but also to the inhibitory effects of cytokines on the bone marrow. Anemia itself may further worsen the cardiac function and make the patients resistant to standard CHF therapies. Indeed anemia has been associated with increased severity of CHF, increased hospitalization, worse cardiac function and functional class, higher doses of diuretics,worsening of renal function and reduced quality of life. In both controlled and uncontrolled studies the correction of the anemia with erythropoietin (EPO) and oral or Ⅳ iron is associated with improvement in all these parameters. EPO itself may also play a direct role in improving the heart unrelated to the improvement of the anemia. Anemia may also play a role in the worsening of coronary heart disease even without CHF.

  17. ANEMIA IN INFLAMMATORY BOWEL DISEASE MORE THAN AN EXTRAINTESTINAL COMPLICATION.

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    Nemeş, Roxana Maria; Pop, Corina Silvia; Calagiu, Dorina; Dobrin, Denisa; Chetroiu, Diana; Jantea, Petruta; Postolache, Paraschiva

    2016-01-01

    The most common hematologic complication of inflammatory bowel disease (IBD)--ulcerative colitis and Crohn's Disease is anemia. Anemia in patients with IBD may be a result of iron, vitamin B12 or folate deficiency; anemia of chronic disease and hemolytic anemia are other causes in these patients. Factors contributing to the development of anemia include chronic gastrointestinal blood loss, vitamin B12 malabsorption secondary to terminal ileitis, folate deficiency as a result of sulfasalazine therapy. Approximately 30% of patients with IBD have hemoglobin levels below 12 g/dl. The risk of developing anemia relates to disease activity, given that blood loss and inflammatory anemia are triggered by intestinal inflammation. In the management strategy of IBD patients with anemia it is important to distinguish between the different types of anemia in order to decide an appropriate manner of treatment.

  18. Iron deficiency anemia in inflammatory bowel disease

    Institute of Scientific and Technical Information of China (English)

    Sindhu; Kaitha; Muhammad; Bashir; Tauseef; Ali

    2015-01-01

    Anemia is a common extraintestinal manifestation of inflammatory bowel disease(IBD) and is frequently overlooked as a complication. Patients with IBD are commonly found to have iron deficiency anemia(IDA) secondary to chronic blood loss, and impaired iron absorption due to tissue inflammation. Patients with iron deficiency may not always manifest with signs and symptoms; so, hemoglobin levels in patients with IBD must be regularly monitored for earlier detection of anemia. IDA in IBD is associated with poor quality of life, necessitating prompt diagnosis and appropriate treatment. IDA is often associated with inflammation in patients with IBD. Thus, commonly used labora-tory parameters are inadequate to diagnose IDA, and newer iron indices, such as reticulocyte hemoglobin content or percentage of hypochromic red cells or zinc protoporphyrin, are required to differentiate IDA from anemia of chronic disease. Oral iron preparations are available and are used in patients with mild disease activity. These preparations are inexpensive and con-venient, but can produce gastrointestinal side effects, such as abdominal pain and diarrhea, that limit their use and patient compliance. These preparations are partly absorbed due to inflammation. Non-absorbed iron can be toxic and worsen IBD disease activity. Although cost-effective intravenous iron formulations are widely available and have improved safety profiles, physicians are reluctant to use them. We present a review of the pathophysiologic mechanisms of IDA in IBD, improved diagnostic and therapeutic strategies, efficacy, and safety of iron replacement in IBD.

  19. Iron deficiency anemia in inflammatory bowel disease

    Science.gov (United States)

    Kaitha, Sindhu; Bashir, Muhammad; Ali, Tauseef

    2015-01-01

    Anemia is a common extraintestinal manifestation of inflammatory bowel disease (IBD) and is frequently overlooked as a complication. Patients with IBD are commonly found to have iron deficiency anemia (IDA) secondary to chronic blood loss, and impaired iron absorption due to tissue inflammation. Patients with iron deficiency may not always manifest with signs and symptoms; so, hemoglobin levels in patients with IBD must be regularly monitored for earlier detection of anemia. IDA in IBD is associated with poor quality of life, necessitating prompt diagnosis and appropriate treatment. IDA is often associated with inflammation in patients with IBD. Thus, commonly used laboratory parameters are inadequate to diagnose IDA, and newer iron indices, such as reticulocyte hemoglobin content or percentage of hypochromic red cells or zinc protoporphyrin, are required to differentiate IDA from anemia of chronic disease. Oral iron preparations are available and are used in patients with mild disease activity. These preparations are inexpensive and convenient, but can produce gastrointestinal side effects, such as abdominal pain and diarrhea, that limit their use and patient compliance. These preparations are partly absorbed due to inflammation. Non-absorbed iron can be toxic and worsen IBD disease activity. Although cost-effective intravenous iron formulations are widely available and have improved safety profiles, physicians are reluctant to use them. We present a review of the pathophysiologic mechanisms of IDA in IBD, improved diagnostic and therapeutic strategies, efficacy, and safety of iron replacement in IBD. PMID:26301120

  20. Inter-ethnic polymorphism of the beta-globin gene locus control region (LCR) in sickle-cell anemia patients.

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    Périchon, B; Ragusa, A; Lapouméroulie, C; Romand, A; Moi, P; Ikuta, T; Labie, D; Elion, J; Krishnamoorthy, R

    1993-06-01

    Sequence polymorphisms within the 5'HS2 segment of human locus control region is described among sickle cell anemia patients. Distinct polymorphic patterns of a simple sequence repeat are observed in strong linkage disequilibrium with each of the five major beta s haplotypes. Potential functional relevance of this polymorphic region in globin gene expression is discussed.

  1. [New insights on hepcidin in anemia of chronic disease].

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    Wang, Feng-Dan; Zhou, Dao-Bin

    2009-12-01

    Anemia of chronic disease is normocytic and normochromic. One of the mechanisms is misbalance of iron metabolism. Hepcidin, a kind of protein secreted by liver is considered to be the hormone regulating iron metabolism. It binds to ferroportin and induces the latter one's internalization. Thus, iron transportation from iron storage cells to serum is reduced. Cytokines are elevated in chronic disease. They stimulate hepcidin expression in liver through JAK2/STAT3 pathway. As a result, iron absorption and reabsorption is blocked, which leads to the misbalance of iron metabolism in anemia of chronic disease. In this article, the hepcidin and its relation to iron metabolism and anemia in chronic disease are reviewed.

  2. Anemias.

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    Broadway-Duren, Jacqueline B; Klaassen, Hillary

    2013-12-01

    Anemias continue to present a challenge to the health care profession. Anemia is defined as a reduction in one or more of the RBC indices. Patients presenting with a mild form of anemia may be asymptomatic; however, in more serious cases the anemia can become life threatening. In many cases the clinical presentation also reflects the underlying cause. Anemia may be attributed to various causes, whereas autoimmune RBC destruction may be attributed to intrinsic and extrinsic factors. Laboratory tests are essential in facilitating early detection and differentiation of anemia.

  3. Stimulating erythropoiesis in inflammatory bowel disease associated anemia

    Institute of Scientific and Technical Information of China (English)

    Georgia Tsiolakidou; Ioannis E Koutroubakis

    2007-01-01

    Anemia is a frequent complication in patients with inflammatory bowel disease (IBD), and is associated with decreased quality of life and increased rate of hospitalization. The primary therapeutic targets of IBDassociated anemia are iron deficiency and anemia of chronic disease. An important prognostic parameter of the success or failure of therapy is the outcome of the underlying disease. Iron deficiency should be appropriately managed with iron supplementation.However, the use of oral iron therapy is limited by several problems, the most important being gastrointestinal side effects leading occasionally to disease relapse and poor iron absorption. Intravenous iron preparations are more reliable, with iron sucrose demonstrating the best efficacy and tolerability. Treatment with erythropoietin or darbepoetin has been proven to be effective in patients with anemia, who fail to respond to intravenous iron. Patients with ongoing inflammation have anemia of chronic disease and may require combination therapy comprising of intravenous iron sucrose and erythropoietin. After initiating treatment, careful monitoring of hemoglobin levels and iron parameters is needed in order to avoid recurrence of anemia. In conclusion, anemia in the setting of IBD should be aggressively diagnosed, investigated, and treated. Future studies should define the optimal dose and schedule of intravenous iron supplementation and appropriate erythropoietin therapy in these patients.

  4. Anemia

    Science.gov (United States)

    ... are affected. Low levels of red blood cells leads to anemia. With low levels of white blood cells, the ... foods they eat. Food fads and dieting can lead to anemia. Talk to your doctor about taking iron pills ( ...

  5. Management of Iron-Deficiency Anemia in Inflammatory Bowel Disease

    DEFF Research Database (Denmark)

    Nielsen, Ole Haagen; Ainsworth, Mark; Coskun, Mehmet;

    2015-01-01

    , and the websites of WHO, FDA, and EMA covered prospective trials investigating the management of iron-deficiency anemia in IBD published since 2004. A total of 632 articles were reviewed, and 13 articles (2906 patients) with unique content were included. In general, oral supplementation in iron-deficiency anemia......Anemia is the most frequent complication of inflammatory bowel disease (IBD), but anemia, mostly due to iron deficiency, has long been neglected in these patients. The aim was to briefly present the pathophysiology, followed by a balanced overview of the different forms of iron replacement...... available, and subsequently, to perform a systematic review of studies performed in the last decade on the treatment of iron-deficiency anemia in IBD. Given that intravenous therapies have been introduced in the last decade, a systematic review performed in PubMed, EMBASE, the Cochrane Library...

  6. Management of Iron-Deficiency Anemia in Inflammatory Bowel Disease

    DEFF Research Database (Denmark)

    Nielsen, Ole Haagen; Ainsworth, Mark; Coskun, Mehmet

    2015-01-01

    Anemia is the most frequent complication of inflammatory bowel disease (IBD), but anemia, mostly due to iron deficiency, has long been neglected in these patients. The aim was to briefly present the pathophysiology, followed by a balanced overview of the different forms of iron replacement...... available, and subsequently, to perform a systematic review of studies performed in the last decade on the treatment of iron-deficiency anemia in IBD. Given that intravenous therapies have been introduced in the last decade, a systematic review performed in PubMed, EMBASE, the Cochrane Library......, and the websites of WHO, FDA, and EMA covered prospective trials investigating the management of iron-deficiency anemia in IBD published since 2004. A total of 632 articles were reviewed, and 13 articles (2906 patients) with unique content were included. In general, oral supplementation in iron-deficiency anemia...

  7. Management of Iron-Deficiency Anemia in Inflammatory Bowel Disease

    DEFF Research Database (Denmark)

    Nielsen, Ole Haagen; Ainsworth, Mark; Coskun, Mehmet;

    2015-01-01

    Anemia is the most frequent complication of inflammatory bowel disease (IBD), but anemia, mostly due to iron deficiency, has long been neglected in these patients.The aim was to briefly present the pathophysiology, followed by a balanced overview of the different forms of iron replacement available......, and subsequently, to perform a systematic review of studies performed in the last decade on the treatment of iron-deficiency anemia in IBD.Given that intravenous therapies have been introduced in the last decade, a systematic review performed in PubMed, EMBASE, the Cochrane Library, and the websites of WHO, FDA......, and EMA covered prospective trials investigating the management of iron-deficiency anemia in IBD published since 2004.A total of 632 articles were reviewed, and 13 articles (2906 patients) with unique content were included. In general, oral supplementation in iron-deficiency anemia should be administered...

  8. Anemia and bone disease of chronic kidney disease: pathogenesis, diagnosis, and management.

    Science.gov (United States)

    Shemin, Douglas

    2014-12-02

    Anemia and metabolic bone disease accompany chronic kidney disease (CKD), and worsen as CKD progresses. It is likely that both processes contribute to the increased morbidity and mortality seen in CKD. This paper briefly reviews the pathogenesis and diagnosis of anemia and bone disease in CKD, and summarizes recent consensus guidelines for treatment.

  9. Anemia

    Science.gov (United States)

    ... Physician October 01, 2002, http://www.aafp.org/afp/20021001/1217.html)Normocytic Anemia by JR Brill, ... Physician November 15, 2000, http://www.aafp.org/afp/20001115/2255.html) Last Updated: February 2014 This ...

  10. Iron deficiency anemia in patients with inflammatory bowel disease

    Directory of Open Access Journals (Sweden)

    Goldberg ND

    2013-06-01

    Full Text Available Neil D Goldberg Emeritus Chief of Gastroenterology, University of Maryland St. Joseph Medical Center, Towson, MD, USA Abstract: Iron deficiency anemia is the most common form of anemia worldwide, caused by poor iron intake, chronic blood loss, or impaired absorption. Patients with inflammatory bowel disease (IBD are increasingly likely to have iron deficiency anemia, with an estimated prevalence of 36%–76%. Detection of iron deficiency is problematic as outward signs and symptoms are not always present. Iron deficiency can have a significant impact on a patient's quality of life, necessitating prompt management and treatment. Effective treatment includes identifying and treating the underlying cause and initiating iron replacement therapy with either oral or intravenous iron. Numerous formulations for oral iron are available, with ferrous fumarate, sulfate, and gluconate being the most commonly prescribed. Available intravenous formulations include iron dextran, iron sucrose, ferric gluconate, and ferumoxytol. Low-molecular weight iron dextran and iron sucrose have been shown to be safe, efficacious, and effective in a host of gastrointestinal disorders. Ferumoxytol is the newest US Food and Drug Administration-approved intravenous iron therapy, indicated for iron deficiency anemia in adults with chronic kidney disease. Ferumoxytol is also being investigated in Phase 3 studies for the treatment of iron deficiency anemia in patients without chronic kidney disease, including subgroups with IBD. A review of the efficacy and safety of iron replacement in IBD, therapeutic considerations, and recommendations for the practicing gastroenterologist are presented. Keywords: anemia, inflammatory bowel disease, intravenous iron, iron deficiency, oral iron, therapy

  11. ROLE OF HEPCIDIN IN MECHANISM OF ANEMIA CHRONIC DISEASE PATIENTS

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    Ketut Suega

    2014-08-01

    Full Text Available Background: Anemia chronic disease (ACD is an anemia found in certain chronic disease states, typically marked by the disturbance of iron homeostasis or hypoferremia. This condition leads to shortage of iron for hemoglobin synthesis but the iron storage in bone marrow is left undisturbed. The discovery of hepcidin and its role in iron metabolism has given new insights in anemia chronic disease management. Consecutive sampling method was applied to choose ACD patients at Sanglah General Hospital, Bali-Indonesia. Questionnaire was constructed to note demographic aspect and disease or clinical condition underlies ACD (inflammation, infection, malignancy and others. Hepcidin, Serum IL-6 and CRP level were measured. Sample size and Path analysis mediation method were used to define hepcidin’s role on mechanism how anemia develop in ACD patients in which the direct and indirect effects of IL-6 and CRP to hemoglobin (Hb  were counted partially or combined through hepcidin mediation variable. The cumulative influence of IL-6, CRP and hepcidin on anemia (Hb was only 0.12 or about 12% of hemoglobin level was influenced by IL-6, CRP and hepcidin together whereas the other 93% was influenced by another unknown and unclear factors. Hepcidin could be used as a mediation variable for the development of anemia because the direct influence of IL-6 as exogenous factor was less than its indirect influence through hepcidin. It was not proven for CRP as exogenous variable because the direct influence of CRP to hemoglobin was stronger than the influence of CRP through hepcidin.

  12. Inflammatory Bowel Disease in a Child with Sickle Cell Anemia

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    Khaled Alqoaer

    2014-01-01

    Full Text Available Sickle cell anemia (SCA is a chronic haemoglobinopathy that can affect many organs in the body including gastrointestinal tract. However, colonic involvement is very rare and usually in the form of ischemic colitis. We are reporting an 11-year-old Saudi girl with SCA who presented with persistent diarrhea and was found to have inflammaftory bowel disease.

  13. Celiac disease unmasked by acute severe iron deficiency anemia

    Science.gov (United States)

    Meseeha, Marcelle G.; Attia, Maximos N.; Kolade, Victor O.

    2016-01-01

    The prevalence of celiac disease (CD) appears to be increasing in the United States. However, the proportion of new CD cases with atypical presentations is also rising. We present the case of a 49-year-old woman who was diagnosed with CD in the setting of new, severe iron-deficiency anemia, 13 years into treatment of diarrhea-predominant irritable bowel syndrome associated with chronic mildly elevated liver function tests. While CD and iron deficiency anemia are common, this is a rare presentation of CD. PMID:27406450

  14. Anemia de Doença Crônica Anemia of chronic disease

    Directory of Open Access Journals (Sweden)

    Rodolfo D. Cançado

    2002-04-01

    Full Text Available Anemia de Doença Crônica (ADC é usualmente definida como a anemia que ocorre em distúrbios infecciosos crônicos, inflamatórios ou doenças neoplásicas, e é uma das síndromes clínicas mais comuns na prática clínica. Caracteristicamente, ADC corresponde à anemia normocrômica/normocítica, leve a moderada, e caracteriza-se por hipoferremia na presença de estoques adequados de ferro. Os três principais mecanismos patológicos envolvidos na ADC são: diminuição da sobrevida da hemácia, falha da medula óssea em aumentar a produção de glóbulos vermelhos para compensar o aumento da sua demanda, e distúrbio da mobilização do ferro de depósito do sistema mononuclear fagocitário. O papel central dos monócitos e dos macrófagos e o aumento da produção de citocinas mediadoras da resposta imune ou inflamatória, tais como: TNF alfa, INF gama e IL-1 estão implicados nos três processos envolvidos no desenvolvimento da ADC. O propósito desse artigo é revisar os recentes avanços no entendimento dos aspectos patofisiológico, diagnóstico e terapêutico desta síndrome.The anemia of chronic disease (ACD is usually defined as the anemia occurring in chronic infectious, inflammatory disorders, or neoplastic diseases, and is one of the most common syndromes in the clinical practice. Characteristically, ACD is a mild-to-moderate, normochromic/normocytic anemia, and is characterized by hypoferremia in the presence of adequate iron stores. The three principal pathologic mechanisms involved in ACD are: reduced erythrocyte survival, bone marrow failure to increase red blood cell production to compensate for the increase in its demand, and abnormal mobilization of reticuloendothelial iron stores. The central role of monocytes and macrophages, and the increased production of the cytokines that mediate the immune or inflammatory response, such as tumor necrosis factor, interleukin-1 and the interferons, are implicated in all three

  15. [Health locus of control of patients in disease management programmes].

    Science.gov (United States)

    Schnee, M; Grikscheit, F

    2013-06-01

    Health locus of control beliefs plays a major role in improving self-management skills of the chronically ill - a main goal in disease management programmes (DMP). This study aims at characterising participants in disease management regarding their health locus of control. Data are based on 4 cross-sectional postal surveys between spring and autumn of 2006 and 2007 within the Health Care Monitor of the Bertelsmann Foundation. Among the 6 285 respondents, 1 266 are chronically ill and not enrolled in a DMP and 327 are participating in a DMP. A high internal locus of control (HLC) occurs significantly less often in DMP patients than in normal chronically ill patients (and healthy people) controlling for age, gender and social class. With increasing age, a high internal locus of control is also significantly less likely. When comparing healthy people, the chronically ill and the DMP participants a social gradient of a high internal locus of control belief can be observed. The weaker internal and higher doctor-related external locus of control of DMP participants should be carefully observed by the physician when trying to strengthen the patients' self-management skills. Evaluators of DMP should take into account the different baselines of DMP patients and relevant control groups and incorporate these differences into the evaluation.

  16. Autoimmune Hemolytic Anemia and Hodgkin's Disease: An Unusual Pediatric Association

    OpenAIRE

    Maria Miguel Gomes; Tereza Oliva; Armando Pinto

    2016-01-01

    Autoimmune hemolytic anemia (AIHA) is a recognized complication of lymphoproliferative disorders. AIHA associated with Hodgkin’s disease (HD) is uncommon especially in the pediatric population. The diagnosis of AIHA is usually associated with HD at the time of initial presentation or during the course of disease, but it could precede it by years to months. In adults the association of AIHA and HD is more frequent in advanced stages and in the nodular sclerosis and mixed cellularity type HD. W...

  17. Fanconi anemia associated with moyamoya disease in Saudi Arabia

    OpenAIRE

    Al-Hawsawi, Zakaria M.; Al-Zaid, Mohamed A.; Barnawi, Ashwaq I.; Yassine, Saadeddine M.

    2015-01-01

    We report a 10-year-old Saudi girl who has Fanconi anemia (FA) and was admitted due to acute hemiplegia, of the right side. She had a previous attack of left side hemiplegia that resolved spontaneously. The brain magnetic resonance angiography showed a cerebrovascular pattern of moyamoya disease. She underwent partially matched related donor stem cell transplantation (SCT), but unfortunately died 3 months later with post SCT complications. The association of moyamoya disease with FA is uncomm...

  18. Anemia in inflammatory bowel disease: prevalence, differential diagnosis and association with clinical and laboratory variables

    Directory of Open Access Journals (Sweden)

    Rodrigo Andrade Alves

    Full Text Available CONTEXT AND OBJECTIVES:Anemia is the most frequent extraintestinal complication of inflammatory bowel disease. This study aimed to: 1 determine the prevalence of anemia among patients with inflammatory bowel disease; 2 investigate whether routine laboratory markers are useful for diagnosing anemia; and 3 evaluate whether any association exists between anemia and clinical/laboratory variables.DESIGN AND SETTING:Cross-sectional at a federal university.METHODS:44 outpatients with Crohn's disease and 55 with ulcerative colitis were evaluated. Clinical variables (disease activity index, location of disease and pharmacological treatment and laboratory variables (blood count, iron laboratory, vitamin B12 and folic acid were investigated.RESULTS:Anemia and/or iron laboratory disorders were present in 75% of the patients with Crohn's disease and in 78.2% with ulcerative colitis. Anemia was observed in 20.5% of the patients with Crohn's disease and in 23.6% with ulcerative colitis. Iron-deficiency anemia was highly prevalent in patients with Crohn's disease (69.6% and ulcerative colitis (76.7%. Anemia of chronic disease in combination with iron deficiency anemia was present in 3% of the patients with Crohn's disease and in 7% of the patients with ulcerative colitis. There was no association between anemia and disease location. In ulcerative colitis, anemia was associated with the disease activity index.CONCLUSIONS:Most patients present iron laboratory disorders, with or without anemia, mainly due to iron deficiency. The differential diagnosis between the two most prevalent types of anemia was made based on clinical data and routine laboratory tests. In ulcerative colitis, anemia was associated with the disease activity index.

  19. Disorders of Iron Metabolism and Anemia in Chronic Kidney Disease.

    Science.gov (United States)

    Panwar, Bhupesh; Gutiérrez, Orlando M

    2016-07-01

    Dysregulated iron homeostasis plays a central role in the development of anemia of chronic kidney disease (CKD) and is a major contributor toward resistance to treatment with erythropoiesis-stimulating agents. Understanding the underlying pathophysiology requires an in-depth understanding of normal iron physiology and regulation. Recent discoveries in the field of iron biology have greatly improved our understanding of the hormonal regulation of iron trafficking in human beings and how its alterations lead to the development of anemia of CKD. In addition, emerging evidence has suggested that iron homeostasis interacts with bone and mineral metabolism on multiple levels, opening up new avenues of investigation into the genesis of disordered iron metabolism in CKD. Building on recent advances in our understanding of normal iron physiology and abnormalities in iron homeostasis in CKD, this review characterizes how anemia related to disordered iron metabolism develops in the setting of CKD. In addition, this review explores our emerging recognition of the connections between iron homeostasis and mineral metabolism and their implications for the management of altered iron status and anemia of CKD.

  20. Analysis of the ABCA4 genomic locus in Stargardt disease

    DEFF Research Database (Denmark)

    Zernant, Jana; Xie, Yajing Angela; Ayuso, Carmen

    2014-01-01

    was designed to find the missing disease-causing ABCA4 variation by a combination of next-generation sequencing (NGS), array-Comparative Genome Hybridization (aCGH) screening, familial segregation and in silico analyses. The entire 140 kb ABCA4 genomic locus was sequenced in 114 STGD patients with one known...

  1. Ferric carboxymaltose prevents recurrence of anemia in patients with inflammatory bowel disease

    DEFF Research Database (Denmark)

    Evstatiev, Rayko; Alexeeva, Olga; Bokemeyer, Bernd

    2013-01-01

    Iron-deficiency anemia is the most common systemic complication of inflammatory bowel diseases (IBD). Iron-deficiency anemia recurs frequently and rapidly after iron-replacement therapy in patients with IBD. We performed a randomized, placebo-controlled trial to determine if administration...... of ferric carboxymaltose (FCM) prevents anemia in patients with IBD and low levels of serum ferritin....

  2. The Value of Erythrocyte Indices and Red Cell Volume Distribution Width in Differential Diagnosis of Iron Deficiency Anemia and Anemia of Chronic Disease

    Directory of Open Access Journals (Sweden)

    Abdullah Altıntaş

    2007-01-01

    Full Text Available Iron deficiency anemia (IDA and anemia of chronic disease are the most commonly confused anemias. We investigate the diagnostic value of erythrocyte indices, red cell volume distribution width, and serum ferritin levels to make differential diagnosis of anemia in controls and anemic patients.Iron deficiency anemia (44 patients, anemia of chronic disease (41, IDA with anemia of chronic disease (17 and control (50 groups were compared. We performed serum ferritin, CBC, and sedimentation rate in all patientsand bone marrow aspiration in patients with anemia of chronic disease.Although mean cell volume (MCV and mean corpuscular hemoglobin (MCH are low in IDA and anemia of chronic disease, it is much striking in the former one (p<0.001, p<0.001. Only 7.3% of patients with anemia of chronic disease had a MCV<70 fL and MCH<24 pg, 90.0% of patients with IDA were below that cut-off point. Serum ferritin means were in patients with IDA and anemia of chronic disease were 4.6±3.3 and 489.6 ±519.9 ng/ml, respectively.The probability of IDA is low when RDW is normal in microcytic anemias. RDW is high in half of patients with anemia of chronic disease. Reference values for ferritin must be changed in patients with anemia of chronic disease and IDA. If serum ferritin is 57.6-146.4 ng/ml anemia of chronic disease and iron deficiency must ruled out by other diagnostic tests.

  3. Neocytolysis contributes to the anemia of renal disease

    Science.gov (United States)

    Rice, L.; Alfrey, C. P.; Driscoll, T.; Whitley, C. E.; Hachey, D. L.; Suki, W.

    1999-01-01

    Neocytolysis is a recently described physiological process affecting the selective hemolysis of young red blood cells in circumstances of plethora. Erythropoietin (EPO) depression appears to initiate the process, providing the rationale to investigate its contributions to the anemia of renal disease. When EPO therapy was withheld, four of five stable hemodialysis patients showed chromium 51 (51Cr)-red cell survival patterns indicative of neocytolysis; red cell survival was short in the first 9 days, then normalized. Two of these four patients received oral 13C-glycine and 15N-glycine, and there was a suggestion of pathological isotope enrichment of stool porphyrins when EPO therapy was held, again supporting selective hemolysis of newly released red cells that take up the isotope (one patient had chronic hemolysis indicated by isotope studies of blood and stool). Thus, neocytolysis can contribute to the anemia of renal disease and explain some unresolved issues about such anemia. One implication is the prediction that intravenous bolus EPO therapy is metabolically and economically inefficient compared with lower doses administered more frequently subcutaneously.

  4. Brainstem: neglected locus in neurodegenerative diseases

    Directory of Open Access Journals (Sweden)

    Lea T Grinberg

    2011-07-01

    Full Text Available The most frequent neurodegenerative diseases (NDs are Alzheimer’s disease (AD, Parkinson’s disease (PD, and frontotemporal lobar degeneration associated with protein TDP-43 (FTLD-TDP. Neuropathologically, NDs are characterized by abnormal intracellular and extracellular protein deposits and by disease-specific neuronal death. Practically all terminal stages of NDs are clinically associated with dementia. Therefore, major attention was directed to protein deposits and neuron loss in supratentorial (telencephalic brain regions in the course of NDs. This was also true for PD, although the pathological hallmark of PD is degeneration of pigmented neurons of the brainstem’s substantia nigra. However, PD pathophysiology was explained by dopamine depletion in the telencephalic basal ganglia due to insufficiency and degeneration of the projection neurons located in substantia nigra. In a similar line of argumentation AD- and FTLD-related clinical deficits were exclusively explained by supratentorial allo- and neocortical laminar neuronal necrosis. Recent comprehensive studies in AD and PD early stages found considerable and unexpected involvement of brainstem nuclei, which could have the potential to profoundly change our present concepts on origin, spread, and early clinical diagnosis of these diseases. In contrast with PD and AD, few studies addressed brainstem involvement in the course of the different types of FTLD-TDP. Some of the results, including ours, disclosed a higher and more widespread pathology than anticipated. The present review will focus mainly on the impact of brainstem changes during the course of the most frequent NDs including PD, AD, and FTLD-TDP, with special emphasis on the need for more comprehensive research on FTLDs.

  5. Management of iron deficiency anemia in inflammatory bowel disease – a practical approach

    OpenAIRE

    Stein, Jürgen; Axel U Dignass

    2013-01-01

    Although anemia is the most common systemic manifestation of inflammatory bowel disease (IBD), among the broad spectrum of extraintestinal disease complications encountered in IBD, including arthritis and osteopathy, it has generally received little consideration. However, not only in terms of frequency, but also with regard to its potential effect on hospitalization rates and on the quality of life and work, anemia is indeed a significant and costly complication of IBD. Anemia is multifactor...

  6. Concurrent reactive arthritis, Graves' disease, and warm autoimmune hemolytic anemia: a case report.

    Science.gov (United States)

    Chiang, Elizabeth; Packer, Clifford D

    2009-08-13

    Warm antibody autoimmune hemolytic anemia is due to the presence of warm agglutinins that react with protein antigens on the surface of red blood cells causing premature destruction of circulating red blood cells. We report the first case of concurrent reactive arthritis, Graves' disease, and autoimmune hemolytic anemia. A 40-year-old man with reactive arthritis, Graves' disease, type 2 diabetes mellitus, mitral valve prolapse, and Gilbert's disease presented with a one month history of jaundice, fatigue, and black stools. After diagnosis of warm autoimmune hemolytic anemia, the patient was started on prednisone 1 mg/kg with rapid improvement in his anemia and jaundice. Our subject's mother and possibly his maternal grandmother also had autoimmune hemolytic anemia, which raises the possibility of hereditary autoimmune hemolytic anemia, a rarely reported condition.

  7. [Mecobalamin improved pernicious anemia in an elderly individual with Hashimoto's disease and diabetes mellitus].

    Science.gov (United States)

    Izumi, Kenichi; Fujise, Takehiro; Inoue, Kanako; Mori, Hitoe; Yamazaki, Kouta; Hongou, Yui; Takagi, Satoko; Yamanouchi, Hiroko; Ashida, Kenji; Anzai, Keizo

    2013-01-01

    A 73-year-old Japanese man with Hashimoto's disease and diabetes mellitus received regular medical checkups for type 2 diabetes care. Blood tests indicated macrocytic anemia (red blood cell count, 279×104 /μL; hemoglobin, 12.2 g/dL; hematocrit, 34.0%; mean corpuscular volume, 121.9 fL). The laboratory data demonstrated a normal folic acid level with a low vitamin B12 level. An endoscopic examination indicated no signs of gastric or intestinal bleeding. Positive results for anti-intrinsic factor antibodies were strongly suggestive of pernicious anemia. The patient refused cobalamin injections to treat the anemia. However, the oral administration of mecobalamin for the treatment of diabetic neuropathy was simultaneously initiated. Subsequently, the anemia gradually improved. Oral mecobalamin was presumably effective for pernicious anemia management. Anemia is frequently observed in elderly patients, and the incidence of pernicious anemia increases with age. Anemia is conventionally treated with cobalamin injections. Currently, the oral administration of mecobalamin is not the typical treatment for anemia. However, as in our case, a few reports have documented positive results following oral mecobalamin treatment. Moreover, oral mecobalamin is a fairly recent, novel, noninvasive mode of treatment, making it ideal for elderly patients, who are generally frail. This case suggests the efficacy of mecobalamin for the treatment of pernicious anemia.

  8. Hemolytic Anemia as a Presenting Feature of Wilson’s Disease: A Case Report

    OpenAIRE

    Sharma, Sunita; Toppo, Anupa; B Rath; Harbhajanka, Aparna; P Lalita Jyotsna

    2010-01-01

    Wilson’s disease is a rare inherited disorder of copper metabolism causing severe damage to vital organs. Liver and brain disorders are the main manifestations. Severe hemolytic anemia is an unusual complication of Wilson’s disease. We present a case who developed spherocytic acute hemolytic anemia (Coomb’s negative) as the initial manifestation of Wilson’s disease. On examination Kayser- Fleischer ring was found. Laboratory data supported a diagnosis of Wilson’s disease.

  9. [Sickle cell anemia causes varied symptoms and high morbidity. Serious prognosis in the most common genetic disease in the world].

    Science.gov (United States)

    Kjellander, Christian; Sennström, Maria K B; Stiller, Viveka; Ågren, Anna

    2015-03-03

    Sickle cell anemia is a life-threatening disease, and the most common genetic disease in the world. The prevalence of sickle cell anemia in Sweden is unknown. Sickle cell anemia is an important disease, because of its variable complications, in many medical and surgical specialties. The overview highlights common medical problems encountered in sickle cell anemia presented through a case report of a pregnant woman.

  10. CELIAC DISEASE AS A CAUSE OF RECURRENT ANEMIA: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Bhatia

    2014-07-01

    Full Text Available Celiac disease is an immune mediated enteropathy with sensitivity to gluten. It is a disease with heterogenous presentation. We report a case of a 12 year old who presented with episodes of recurrent anemia. The patient had no gastro intestinal symptoms. Celiac disease should be considered in any child with iron resistant anemia even if no gastrointestinal symptoms are present. Celiac Disease is an immune mediated enteropathy with permanent sensitivity to gluten in genetically susceptible individuals.1 The clinical manifestation of the disease can be quite varied. The various clinical symptoms described with celiac disease include failure to thrive, diarrhea, vomiting, short stature, delayed puberty, iron deficiency anemia not responding to hematinics etc.1 In some patients anemia might be the sole presentation.2

  11. Concurrent reactive arthritis, Graves’ disease, and warm autoimmune hemolytic anemia: a case report

    OpenAIRE

    Chiang, Elizabeth; Packer, Clifford D

    2009-01-01

    Warm antibody autoimmune hemolytic anemia is due to the presence of warm agglutinins that react with protein antigens on the surface of red blood cells causing premature destruction of circulating red blood cells. We report the first case of concurrent reactive arthritis, Graves’ disease, and autoimmune hemolytic anemia. A 40-year-old man with reactive arthritis, Graves’ disease, type 2 diabetes mellitus, mitral valve prolapse, and Gilbert’s disease presented with a one month history of jaund...

  12. Hemoglobin C, S-C, and E Diseases

    Science.gov (United States)

    ... Anemia Vitamin Deficiency Anemia Anemia of Chronic Disease Aplastic Anemia Autoimmune Hemolytic Anemia Sickle Cell Disease Hemoglobin C, S- ... Anemia Vitamin Deficiency Anemia Anemia of Chronic Disease Aplastic Anemia Autoimmune Hemolytic Anemia Sickle Cell Disease Hemoglobin C, S- ...

  13. Iron deficiency anemia: focus on infectious diseases in lesser developed countries.

    Science.gov (United States)

    Shaw, Julia G; Friedman, Jennifer F

    2011-01-01

    Iron deficiency anemia is thought to affect the health of more than one billion people worldwide, with the greatest burden of disease experienced in lesser developed countries, particularly women of reproductive age and children. This greater disease burden is due to both nutritional and infectious etiologies. Individuals in lesser developed countries have diets that are much lower in iron, less access to multivitamins for young children and pregnant women, and increased rates of fertility which increase demands for iron through the life course. Infectious diseases, particularly parasitic diseases, also lead to both extracorporeal iron loss and anemia of inflammation, which decreases bioavailability of iron to host tissues. This paper will address the unique etiologies and consequences of both iron deficiency anemia and the alterations in iron absorption and distribution seen in the context of anemia of inflammation. Implications for diagnosis and treatment in this unique context will also be discussed.

  14. Iron Deficiency Anemia: Focus on Infectious Diseases in Lesser Developed Countries

    Directory of Open Access Journals (Sweden)

    Julia G. Shaw

    2011-01-01

    Full Text Available Iron deficiency anemia is thought to affect the health of more than one billion people worldwide, with the greatest burden of disease experienced in lesser developed countries, particularly women of reproductive age and children. This greater disease burden is due to both nutritional and infectious etiologies. Individuals in lesser developed countries have diets that are much lower in iron, less access to multivitamins for young children and pregnant women, and increased rates of fertility which increase demands for iron through the life course. Infectious diseases, particularly parasitic diseases, also lead to both extracorporeal iron loss and anemia of inflammation, which decreases bioavailability of iron to host tissues. This paper will address the unique etiologies and consequences of both iron deficiency anemia and the alterations in iron absorption and distribution seen in the context of anemia of inflammation. Implications for diagnosis and treatment in this unique context will also be discussed.

  15. [Superior sagittal sinus thrombosis caused by Crohn's disease and macrocytic anemia : a case report].

    Science.gov (United States)

    Osawa, Shigeyuki; Suzuki, Sachio; Yamada, Masaru; Fukushima, Yutaka; Utsuki, Satoshi; Shimizu, Satoru; Kurata, Akira; Fujii, Kiyotaka; Kan, Shinichi

    2007-06-01

    A 32-years-old man with a past history of hemorrhoids presenting with hemiparesis was diagnosed as having sagittal sinus thrombosis with hemorrtagic infarction. Laboratory data revealed macrocytic anemia (Hb 11.2 g/d/) with hypoproteinernia (5.5 g/d). After discharge the patient developed abdominal pain, diarrhea, edema in the leg and sustained anemia. Final diagnosis through colon fiberscope findings was Crohn's disease Macrocytic anemia seemed to be induced by Vit. B12 deficiency due to malabsorption. The mechanism and causal relationship between Crohn's disease and sinus thrombosis is discussed.

  16. Hemolytic anemia as first presentation of Wilson's disease with uncommon ATP7B mutation.

    Science.gov (United States)

    Ye, Xing-Nong; Mao, Li-Ping; Lou, Yin-Jun; Tong, Hong-Yan

    2015-01-01

    Wilson's disease (WD) is a rare inherited disorder of copper metabolism and the main manifestations are liver and brain disorders. Hemolytic anemia is an unusual complication of WD. We describe a 15-year-old girl who developed hemolytic anemia as the first manifestation of Wilson's disease. An Arg952Lys mutation was found in exon 12 of the ATP7B gene, which is uncommon among Chinese Han individuals. From this case and reviews, we can achieve a better understanding of WD. Besides, we may conclude that the probable diagnosis of WD should be considered in young patients with unexplained hemolytic anemia, especially in patients with hepatic and/or neurologic disorder.

  17. Spontaneous resolution of macrocytic anemia: old disease revisited

    Directory of Open Access Journals (Sweden)

    Imashuku S

    2012-08-01

    Full Text Available Shinsaku Imashuku, Naoko Kudo, Shigehiro KanedaDivision of Hematology, Takasago-seibu Hospital, Takasago, JapanAbstract: We report here on a 60-year-old male with alcohol-related macrocytic anemia. He was hospitalized on three occasions with hemoglobin < 9.0 g/dL and mean corpuscular volume > 130 fL. Careful history taking and observation of his blood status led us to make a correct diagnosis. At the time of each of his admissions, only with bed rest and abstinence from alcohol did our patient dramatically show spontaneous recovery of anemia in association with a rapid decline of serum γ-glutamyl transpeptidase values. It is well recognized that marrow abnormalities in alcoholic patients are reversible. Physicians should be aware that there is a subset of patients with macrocytic anemia that could be improved without medication.Keywords: macrocytic anemia, alcohol, spontaneous resolution, γ-glutamyl transpeptidase

  18. Treatment of iron deficiency anemia associated with gastrointestinal tract diseases

    Institute of Scientific and Technical Information of China (English)

    Ulas; D; Bayraktar; Soley; Bayraktar

    2010-01-01

    The gastrointestinal (GI) tract is a common site of bleeding that may lead to iron deficiency anemia (IDA). Treatment of IDA depends on severity and acuity of patients’ signs and symptoms. While red blood cell transfusions may be required in hemodynamically unstable patients, transfusions should be avoided in chronically anemic patients due to their potential side effects and cost. Iron studies need to be performed after episodes of GI bleeding and stores need to be replenished before anemia develops. Oral ...

  19. Acquired hemoglobin H disease in a patient with aplastic anemia evolving into acute myeloid leukemia

    Directory of Open Access Journals (Sweden)

    Maria Stella Figueiredo

    Full Text Available CONTEXT: The prognosis of severe aplastic anemia has improved since the introduction of bone marrow transplantation and treatment with antithymocyte globulin. In contrast to the success of these protocols, studies with long term follow-up have shown the occurrence of clonal diseases such as paroxysmal nocturnal hemoglobinuria, myelodysplastic syndrome and acute leukemia in aplastic anemia. CASE REPORT: We report the first case of a Brazilian patient with aplastic anemia who developed myelodysplastic syndrome and acute myeloid leukemia showing acquired hemoglobin H and increased fetal hemoglobin.

  20. Fanconi Anemia Research Fund

    Science.gov (United States)

    ... Support Publications Fundraising News What is the Fanconi Anemia Research Fund? Fanconi anemia is an inherited disease that can lead to ... population. Lynn and Dave Frohnmayer started the Fanconi Anemia Research Fund, in 1989 to find effective treatments ...

  1. Cooley's Anemia Foundation

    Science.gov (United States)

    ... role in their lives. Welcome to the Cooley's Anemia Foundation Website The Cooley's Anemia Foundation is dedicated to serving people afflicted with ... major form of this genetic blood disease, Cooley's anemia/thalassemia major. Our mission is advancing the treatment ...

  2. Locus heterogeneity disease genes encode proteins with high interconnectivity in the human protein interaction network.

    Science.gov (United States)

    Keith, Benjamin P; Robertson, David L; Hentges, Kathryn E

    2014-01-01

    Mutations in genes potentially lead to a number of genetic diseases with differing severity. These disease genes have been the focus of research in recent years showing that the disease gene population as a whole is not homogeneous, and can be categorized according to their interactions. Locus heterogeneity describes a single disorder caused by mutations in different genes each acting individually to cause the same disease. Using datasets of experimentally derived human disease genes and protein interactions, we created a protein interaction network to investigate the relationships between the products of genes associated with a disease displaying locus heterogeneity, and use network parameters to suggest properties that distinguish these disease genes from the overall disease gene population. Through the manual curation of known causative genes of 100 diseases displaying locus heterogeneity and 397 single-gene Mendelian disorders, we use network parameters to show that our locus heterogeneity network displays distinct properties from the global disease network and a Mendelian network. Using the global human proteome, through random simulation of the network we show that heterogeneous genes display significant interconnectivity. Further topological analysis of this network revealed clustering of locus heterogeneity genes that cause identical disorders, indicating that these disease genes are involved in similar biological processes. We then use this information to suggest additional genes that may contribute to diseases with locus heterogeneity.

  3. Fine mapping of the NRG1 Hirschsprung's disease locus.

    Directory of Open Access Journals (Sweden)

    Clara Sze-Man Tang

    Full Text Available The primary pathology of Hirschsprung's disease (HSCR, colon aganglionosis is the absence of ganglia in variable lengths of the hindgut, resulting in functional obstruction. HSCR is attributed to a failure of migration of the enteric ganglion precursors along the developing gut. RET is a key regulator of the development of the enteric nervous system (ENS and the major HSCR-causing gene. Yet the reduced penetrance of RET DNA HSCR-associated variants together with the phenotypic variability suggest the involvement of additional genes in the disease. Through a genome-wide association study, we uncovered a ∼350 kb HSCR-associated region encompassing part of the neuregulin-1 gene (NRG1. To identify the causal NRG1 variants contributing to HSCR, we genotyped 243 SNPs variants on 343 ethnic Chinese HSCR patients and 359 controls. Genotype analysis coupled with imputation narrowed down the HSCR-associated region to 21 kb, with four of the most associated SNPs (rs10088313, rs10094655, rs4624987, and rs3884552 mapping to the NRG1 promoter. We investigated whether there was correlation between the genotype at the rs10088313 locus and the amount of NRG1 expressed in human gut tissues (40 patients and 21 controls and found differences in expression as a function of genotype. We also found significant differences in NRG1 expression levels between diseased and control individuals bearing the same rs10088313 risk genotype. This indicates that the effects of NRG1 common variants are likely to depend on other alleles or epigenetic factors present in the patients and would account for the variability in the genetic predisposition to HSCR.

  4. Renal Cell Protection of Erythropoietin beyond Correcting The Anemia in Chronic Kidney Disease Patients

    OpenAIRE

    Hamid Nasri

    2013-01-01

    Currently many patients with chronic renal failure have profited from the use of erythropoietin to correct anemia (1,2). In chronic kidney disease, anemia is believed to be a surrogate index for tissue hypoxia that continues preexisting renal tissue injury (1-3). Erythropoietin is an essential glycoprotein that accelerates red blood cell maturation from erythroid progenitors and facilitates erythropoiesis. It is a 30.4 kD glycoprotein and class I cytokine containing 165 amino acids (3,4). App...

  5. Prevalence of High Blood Pressure, Heart Disease, Thalassemia, Sickle-Cell Anemia, and Iron-Deficiency Anemia among the UAE Adolescent Population

    Directory of Open Access Journals (Sweden)

    Caroline Barakat-Haddad

    2013-01-01

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

  6. Prevalence and Prognosis of Anemia in Dogs with Degenerative Mitral Valve Disease.

    Science.gov (United States)

    Yu, Ivarosa Bing-Ye; Huang, Hui-Pi

    2016-01-01

    In humans, heart failure (HF) and renal insufficiency (RI) have negative reciprocal effects, and anemia can exacerbate their progression. In this retrospective study, the prevalence and prognostic significance of anemia in 114 dogs with degenerative mitral valve disease (DMVD) was investigated. Pretreatment clinical parameters, prevalence of anemia and azotemia, and survival time were analyzed in relation to HF severity. The prevalence of anemia was highest in dogs with the modified New York Heart Association (NYHA) class IV HF (33.3%), followed by classes III (15.2%) and II (0%; p 1.6 mg/dL (both p dogs had a shorter median survival [13 months; 95% confidence interval (CI): 0.7-19.1] than nonanemic dogs (28 months; 95% CI: 15.3-40.7; p 1.7 (HR: 2.7, 95% CI: 1.7-4.2; p = 0.001), and presence of anemia (HR: 1.43, 95% CI: 1.1-1.9; p = 0.004) emerged as predictors of mortality. A cardiorenal-anemia syndrome-like triangle was observed and anemia was a prognostic factor for survival in dogs with DMVD.

  7. Prevalence and Prognosis of Anemia in Dogs with Degenerative Mitral Valve Disease

    Directory of Open Access Journals (Sweden)

    Ivarosa Bing-Ye Yu

    2016-01-01

    Full Text Available In humans, heart failure (HF and renal insufficiency (RI have negative reciprocal effects, and anemia can exacerbate their progression. In this retrospective study, the prevalence and prognostic significance of anemia in 114 dogs with degenerative mitral valve disease (DMVD was investigated. Pretreatment clinical parameters, prevalence of anemia and azotemia, and survival time were analyzed in relation to HF severity. The prevalence of anemia was highest in dogs with the modified New York Heart Association (NYHA class IV HF (33.3%, followed by classes III (15.2% and II (0%; p 1.6 mg/dL (both p 1.7 (HR: 2.7, 95% CI: 1.7–4.2; p = 0.001, and presence of anemia (HR: 1.43, 95% CI: 1.1–1.9; p = 0.004 emerged as predictors of mortality. A cardiorenal-anemia syndrome-like triangle was observed and anemia was a prognostic factor for survival in dogs with DMVD.

  8. Spontaneous resolution of macrocytic anemia: old disease revisited.

    Science.gov (United States)

    Imashuku, Shinsaku; Kudo, Naoko; Kaneda, Shigehiro

    2012-01-01

    We report here on a 60-year-old male with alcohol-related macrocytic anemia. He was hospitalized on three occasions with hemoglobin 130 fL. Careful history taking and observation of his blood status led us to make a correct diagnosis. At the time of each of his admissions, only with bed rest and abstinence from alcohol did our patient dramatically show spontaneous recovery of anemia in association with a rapid decline of serum γ-glutamyl transpeptidase values. It is well recognized that marrow abnormalities in alcoholic patients are reversible. Physicians should be aware that there is a subset of patients with macrocytic anemia that could be improved without medication.

  9. Role of Anemia in Home Oxygen Therapy in Chronic Obstructive Pulmonary Disease Patients.

    Science.gov (United States)

    Copur, Ahmet Sinan; Fulambarker, Ashok; Molnar, Janos; Nadeem, Rashid; McCormack, Charles; Ganesh, Aarthi; Kheir, Fayez; Hamon, Sara

    2015-01-01

    Anemia is a known comorbidity found in chronic obstructive pulmonary disease (COPD) patients. Hypoxemia is common and basically due to ventilation/perfusion (V/Q) mismatch in COPD. Anemia, by decreasing arterial oxygen content, may be a contributing factor for decreased delivery of oxygen to tissues. The objective of this study is to determine if anemia is a factor in qualifying COPD patients for home oxygen therapy. The study was designed as a retrospective, cross-sectional, observational chart review. Patients who were referred for home oxygen therapy evaluation were selected from the computerized patient record system. Demographic data, oxygen saturation at rest and during exercise, pulmonary function test results, hemoglobin level, medications, reason for anemia, comorbid diseases, and smoking status were recorded. The χ tests, independent sample t tests, and logistic regression were used for statistical analysis. Only 356 of total 478 patient referrals had a diagnosis of COPD over a 2-year period. Although 39 of them were excluded, 317 patients were included in the study. The overall rate of anemia was 38% in all COPD patients. Anemia was found significantly more frequent in COPD patients on home oxygen therapy (46%) than those not on home oxygen therapy (18.5%) (P Chronic Obstructive Lung Disease class, smoking status, hemoglobin level, hematocrit, percent of forced expiratory volume in first second, forced expiratory volume in first second/forced vital capacity, residual volume/total lung volume, percent of carbon monoxide diffusion capacity were significantly different between home oxygen therapy and those not on home oxygen therapy (P anemia remained a strong predictor for long-term oxygen therapy use in COPD patients after adjusting for other significant parameters. Anemic COPD patients are more hypoxic especially during exercise than those who are not anemic. We conclude that anemia is a contributing factor in qualifying COPD patients for home oxygen

  10. Management of Iron-Deficiency Anemia in Inflammatory Bowel Disease: A Systematic Review.

    Science.gov (United States)

    Nielsen, Ole Haagen; Ainsworth, Mark; Coskun, Mehmet; Weiss, Günter

    2015-06-01

    Anemia is the most frequent complication of inflammatory bowel disease (IBD), but anemia, mostly due to iron deficiency, has long been neglected in these patients. The aim was to briefly present the pathophysiology, followed by a balanced overview of the different forms of iron replacement available, and subsequently, to perform a systematic review of studies performed in the last decade on the treatment of iron-deficiency anemia in IBD. Given that intravenous therapies have been introduced in the last decade, a systematic review performed in PubMed, EMBASE, the Cochrane Library, and the websites of WHO, FDA, and EMA covered prospective trials investigating the management of iron-deficiency anemia in IBD published since 2004. A total of 632 articles were reviewed, and 13 articles (2906 patients) with unique content were included. In general, oral supplementation in iron-deficiency anemia should be administered with a target to restore/replenish the iron stores and the hemoglobin level in a suitable way. However, in patients with IBD flares and inadequate responses to or side effects with oral preparations, intravenous iron supplementation is the therapy of choice. Neither oral nor intravenous therapy seems to exacerbate the clinical course of IBD, and intravenous iron therapy can be administered even in active disease stages and concomitantly with biologics. In conclusion, because many physicians are in doubt as to how to manage anemia and iron deficiency in IBD, there is a clear need for the implementation of evidence-based recommendations on this matter. Based on the data presented, oral iron therapy should be preferred for patients with quiescent disease stages and trivial iron deficiency anemia unless such patients are intolerant or have an inadequate response, whereas intravenous iron supplementation may be of advantage in patients with aggravated anemia or flares of IBD because inflammation hampers intestinal absorption of iron.

  11. Evaluation of erythrocyte and reticulocyte parameters as indicative of iron deficiency in patients with anemia of chronic disease

    Science.gov (United States)

    Torino, Ana Beatriz Barbosa; Gilberti, Maria de Fátima Pererira; da Costa, Edvilson; de Lima, Gisélia Aparecida Freire; Grotto, Helena Zerlotti Wolf

    2015-01-01

    Objective The aim of this study was to evaluate the effectiveness of mature red cell and reticulocyte parameters to identify three conditions: iron deficiency anemia, anemia of chronic disease, and anemia of chronic disease associated with absolute iron deficiency. Methods Peripheral blood cells from 117 adult patients with anemia were classified according to iron status, inflammation, and hemoglobinopathies as: iron deficiency anemia (n = 42), anemia of chronic disease (n = 28), anemia of chronic disease associated with iron deficiency anemia (n = 22), and heterozygous β-thalassemia (n = 25). The percentage of microcytic erythrocytes, hypochromic erythrocytes, and the levels of hemoglobin in both reticulocytes and mature red cells were determined. Receiver operating characteristic analysis was used to evaluate the accuracy of the parameters in differentiating anemia. Results There was no difference between the groups of iron deficiency and anemia of chronic disease associated with absolute iron deficiency for any of the parameters. The percentage of hypochromic erythrocytes was the best parameter to identify absolute iron deficiency in patients with anemia of chronic disease (area under curve = 0.785; 95% confidence interval: 0.661–0.909 with sensitivity of 72.7%, and specificity of 70.4%; cut-off value 1.8%). The formula microcytic erythrocyte count minus hypochromic erythrocyte count was very accurate to differentiate iron deficiency anemia from heterozygous β-thalassemia (area under curve = 0.977; 95% confidence interval: 0.950–1.005 with a sensitivity of 96.2%, and specificity of 92.7%; cut-off value 13.8). Conclusion The erythrocyte and reticulocyte indices are moderately good to identify absolute iron deficiency in patients with anemia of chronic disease. PMID:25818816

  12. Management of iron deficiency anemia in inflammatory bowel disease - a practical approach.

    Science.gov (United States)

    Stein, Jürgen; Dignass, Axel U

    2013-01-01

    Although anemia is the most common systemic manifestation of inflammatory bowel disease (IBD), among the broad spectrum of extraintestinal disease complications encountered in IBD, including arthritis and osteopathy, it has generally received little consideration. However, not only in terms of frequency, but also with regard to its potential effect on hospitalization rates and on the quality of life and work, anemia is indeed a significant and costly complication of IBD. Anemia is multifactorial in nature, the most prevalent etiological forms being iron deficiency anemia (IDA) and anemia of chronic disease. In a condition associated with inflammation, such as IBD, the determination of iron status using common biochemical parameters alone is inadequate. A more accurate assessment may be attained using new iron indices including reticulocyte hemoglobin content, percentage of hypochromic red cells or zinc protoporphyrin. While oral iron supplementation has traditionally been a mainstay of IDA treatment, it has also been linked to extensive gastrointestinal side effects and possible disease exacerbation. However, many physicians are still reluctant to administer iron intravenously, despite the wide availability of a variety of new IV preparations with improved safety profiles, and despite the recommendations of international expert guidelines. This article discusses improved diagnostic and therapeutic strategies based on new clinical insights into the regulation of iron homeostasis.

  13. An investigation of the role of immunologic factors in anemia associated with canine heartworm disease.

    Science.gov (United States)

    Werner, L L; Halliwell, R E; Jackson, R F; Needham, T C; Limpach, M

    1984-10-01

    Direct Coombs' antiglobulin tests were performed on 80 dogs with patent Dirofilaria immitis infection and 170 dogs negative for microfilaria of D. immitis. Presence or absence of anemia was determined by hematocrit in 55 of the heartworm negative dogs and 68 of the dogs with heartworm disease. Heartworm infected dogs showed a higher incidence (37%) of anemia than noninfected dogs (14.5%). Anemia was most prevalent in two groups of dogs with heartworm infection, one group showing vena caval syndrome (91%) and the other occult dirofilariasis (62.5%). These latter two groups of dogs also showed a significantly higher number of positive Coombs' reactions at 37 degrees C than other dogs with heartworm disease and the noninfected dogs. The number of positive Coombs' reactions at 4 degrees C among the total of 80 dogs with heartworm infection was significantly higher than that for dogs without heartworm disease. However, there was no positive correlation between anemia and the outcome of the Coombs' test at either temperature. These findings do not suggest that immunologic factors play a major role in the pathogenesis of anemia in dogs with heartworm disease.

  14. Anemia, chronic renal disease and congestive heart failure--the cardio renal anemia syndrome: the need for cooperation between cardiologists and nephrologists.

    Science.gov (United States)

    Silverberg, Donald S; Wexler, Dov; Iaina, Adrian; Steinbruch, Shoshana; Wollman, Y; Schwartz, Doron

    2006-01-01

    Many patients with congestive heart failure (CHF) fail to respond to maximal CHF therapy and progress to end stage CHF with many hospitalizations, poor quality of life (QoL), progressive chronic kidney disease (CKD) which can lead to end stage kidney disease (ESKD), or die of cardiovascular complications within a short time. One factor that has generally been ignored in many of these people is the fact that they are often anemic. The anemia in CHF is due mainly to the frequently-associated CKD but also to the inhibitory effects of cytokines on erythropoietin production and on bone marrow activity, as well as to their interference with iron absorption from the gut and their inhibiting effect on the release of iron from iron stores. Anemia itself may further worsen cardiac and renal function and make the patients resistant to standard CHF therapy. Indeed anemia in CHF has been associated with increased severity of CHF, increased hospitalization, worse cardiac function and functional class, the need for higher doses of diuretics, progressive worsening of renal function and reduced QoL. In both controlled and uncontrolled studies of CHF, the correction of the anemia with erythropoietin (EPO) and oral or intravenous (IV) iron has been associated with improvement in many cardiac and renal parameters and an increased QoL. EPO itself may also play a direct role in improving the heart unrelated to the improvement of the anemia--by reducing apoptosis of cardiac and endothelial cells, increasing the number of endothelial progenitor cells, and improving endothelial cell function and neovascularization of the heart. Anemia may also play a role in the worsening of acute myocardial infarction and chronic coronary heart disease (CHD) and in the cardiovascular complications of renal transplantation. Anemia, CHF and CKD interact as a vicious circle so as to cause or worsen each other- the so-called cardio renal anemia syndrome. Only adequate treatment of all three conditions can

  15. Spontaneous resolution of macrocytic anemia: old disease revisited

    OpenAIRE

    2012-01-01

    Shinsaku Imashuku, Naoko Kudo, Shigehiro KanedaDivision of Hematology, Takasago-seibu Hospital, Takasago, JapanAbstract: We report here on a 60-year-old male with alcohol-related macrocytic anemia. He was hospitalized on three occasions with hemoglobin < 9.0 g/dL and mean corpuscular volume > 130 fL. Careful history taking and observation of his blood status led us to make a correct diagnosis. At the time of each of his admissions, only with bed rest and abstinence from alcohol ...

  16. [Anemia and iron deficiency in children with chronic respiratory diseases].

    Science.gov (United States)

    Barja, Salesa; Capo, Eduardo; Briceño, Lilian; Jakubson, Leticia; Méndez, Mireya; Becker, Ana

    2013-01-01

    Introducción: Los niños con enfermedades respiratorias crónicas (ERC) tienen mayor riesgo de desarrollar anemia ferropriva, sin embargo, la ferropenia está infradiagnosticada. Objetivos: Describir el status de hierro (Fe) en niños con ERC y evaluar la respuesta a su suplementación profiláctica. Método: Estudio prospectivo de niños con ERC y adecuada ingesta de Fe en la dieta: se realizó hemograma, velocidad de eritro-sedimentación, proteína Creactiva y perfil de Fe. Posteriormente, aquellos con hemoglobina plasmática (Hb) normal no se suplementaron con Fe (Grupo A) y los que presentaban anemia ferropriva o factores de riesgo sí lo fueron (grupo B). Se evaluaron al 3º mes, después se suplementaron todos y se re-evaluaron al 4ºmes. Resultados: De 40 pacientes, con mediana de edad 30 meses (0,5 a 178), 60% eran hombres, 80% eutróficos. Requerían ventilación prolongada u oxigenoterapia 45%. Diagnósticos: 50% Bronquiolitis Obliterante post-infecciosa, 17,5% enfermedades de la vía aérea, 10% Displasia Broncopulmonar, 7,5% Fibrosis Quística y 15% otros. Basalmente 12,5% tuvo bajos depósitos de Fe y 20% anemia (la mayoría ferropriva). Completaron el estudio 25 niños: el grupo A disminuyó la ferritina sérica al 3ºmes (- 22,9 ± 30) y aumentó al 4ºmes (+12,8 ± 26) μg/L, (p = 0,013), sin cambio en la Hb. El grupo B tuvo ascenso de la Hb (91 ± 12 a 102 ± 12% del promedio para la edad, p = 0,04). Conclusión: La anemia ferropriva y la ferropenia son frecuentes en niños con ERC, quienes deterioran reversiblemente sus depósitos si no son suplementados. Sugerimos monitorizar con perfil de Fe y tratar precozmente, o suplementarlos en forma profiláctica.

  17. Analysis of genes for alcoholism using two-disease-locus models

    OpenAIRE

    Shete Sanjay; Wu Chih-Chieh

    2005-01-01

    Abstract Using model-based two-locus methods for mapping genes, we analyzed the family data from the Collaborative Study on the Genetics of Alcoholism. Microsatellite data from 143 families ascertained through having three or more individuals affected with alcohol dependence were used for this investigation. Four regions showing evidence for linkage were identified using single-locus models from previous investigations. We investigated the genetic linkage, pattern of disease inheritance, and ...

  18. New expectations in the treatment of anemia in chronic kidney disease.

    Science.gov (United States)

    López-Gómez, Juan M; Abad, Soraya; Vega, Almudena

    2016-01-01

    The new drugs developed for the treatment of anemia in chronic kidney disease patients, together with their mechanisms of action are reviewed. At present, many of them are already in advanced stages of clinical trials and is expected to be incorporated into the therapeutic arsenal in the coming years. The potential benefits and possible limitations are also described.

  19. [Peripheral blood monocyte hepcidin in patients with multiple myeloma is associated with anemia of chronic disease].

    Science.gov (United States)

    Han, Xiao; Zhou, Dao-Bin; Duan, Ming-Hui; Wang, Xuan; Zhang, Jie-Ping; Zhao, Yong-Qiang; Shen, Ti; Wu, Yong-Ji

    2013-04-01

    Disorders of iron utilization caused by abnormal elevation of hepcidin levels are the main mechanism of anemia of chronic disease. Hepcidin is mainly produced by the liver. Recently it has been found that monocytes are another source of hepcidin. The increased hepcidin in serum and urine of multiple myeloma patients may be one cause of anemia of chronic disease (ACD). However it is unclear whether the peripheral blood monocyte hepcidin is involved in the pathogenesis of anemia of chronic disease. This study was purposed to investigate the role of monocyte hepcidin in multiple myeloma patients with anemia of chronic disease. The clinical data and peripheral venous blood of multiple myeloma patients were collected.Serum concentration of IL-6 and TNF-α was detected by ELISA. Peripheral blood monocytes were isolated by CD14(+) magnetic beads. Hepcidin, IL-6 and TNF-α mRNA of monocytes were detected by real time quantitative PCR. The results showed that the expression level of monocyte hepcidin mRNA in myeloma patients was higher than that in normal controls. In untreated patients, the expression level of monocyte hepcidin mRNA was negatively correlated with hemoglobin, and positively correlated with serum ferritin and IL-6 levels, but unrelated with TNF-α levels.It is concluded that the increased monocyte hepcidin levels in multiple myeloma patients may play an etiologic role in ACD.

  20. Bacillus cereus bacteremia and hemolytic anemia in a patient with hemoglobin SC disease.

    Science.gov (United States)

    Rodgers, G M; Barrera, E; Martin, R R

    1980-08-01

    A patient with hemoglobin SC disease and cholelithiasis was found to have Bacillus cereus bacteremia. Hemolytic anemia developed, for which common causes of hemolysis were excluded, suggesting a relationship with the bacteremia. Following in vitro incubation, type O erythrocytes were hemolyzed by the culture, but not by a bacteria-free filtrate. This case confirms the association between sickle cell disorders and cholelithiasis with B cereus infections. In addition, it provides evidence for in vivo hemolysis with B cereus bacteremia, an organism not previously associated with hemolytic anemia.

  1. Postoperative Recurrence of Invasive Thymoma with Cold Agglutinin Disease and Autoimmune Hemolytic Anemia.

    Science.gov (United States)

    Yoneda, Taro; Koba, Hayato; Tanimura, Kota; Ogawa, Naohiko; Watanabe, Satoshi; Hara, Johsuke; Abo, Miki; Sone, Takashi; Kimura, Hideharu; Kasahara, Kazuo

    A 50-year-old man presented to our hospital in 1995. Invasive thymoma was diagnosed and extended thymectomy and left upper lobe partial resection were performed. In 2013, he complained of dyspnea. Chest computed tomography showed postoperative recurrence of invasive thymoma. Several chemotherapies were administered. Severe anemia and an increase in the total bilirubin level were observed with chemotherapies. In additional, an examination showed that the direct Coombs test was positive. Cold agglutinin was also high. We herein experienced a rare case of postoperative recurrence of invasive thymoma with cold agglutinin disease and autoimmune hemolytic anemia.

  2. THE PREVALENCE OF CELIAC DISEASE IN PATIENTS WITH IRON-DEFICIENCY ANEMIA IN CENTER AND SOUTH AREA OF IRAN

    Directory of Open Access Journals (Sweden)

    Mahmud BAGHBANIAN

    2015-12-01

    Full Text Available Background - Celiac disease is an immune-mediated enteropathy due to a permanent sensitivity to gluten in genetically susceptible people. Iron-deficiency anemia is the most widely experienced anemia in humans. Iron-deficiency anemia additionally is a common extra intestinal manifestation of celiac disease. Objective - To investigate correlation between tTg levels and histological alterations and then to determine the prevalence of celiac disease in Center and South area patients of Iran with iron deficiency anemia. Methods - A total of 402 patients aged 12-78 years who presented with iron-deficiency anemia were included in this study. Hemoglobin, mean corpuscular volume and serum ferritin were determined. Venous blood samples for anti-tissue transglutaminase antibody immunoglobuline A and G were obtained from these patients. Upper gastrointestinal endoscopy was recommended to patients who had positive serology. Results - Of 402 patients with iron-deficiency anemia, 42 (10.4% had positive serology for celiac disease. The small intestine biopsy of all patients with positive serology showed pathological changes (Marsh I, II & III. There was not significant difference in the mean hemoglobin level between iron-deficiency anemia patients with celiac disease and without celiac disease, duodenal biopsy results did not show significant relationship between the severity of pathological changes and levels of anti-tTG IgG (P -value: 0/869 but significant relationship was discovered between pathological changes and levels of anti-tTG IgA (P -value: 0/004. Conclusion - Screening of celiac disease by anti-tissue transglutaminase antibody should be completed as a routine investigation in patients with iron-deficiency anemia. Also physicians must consider celiac disease as a possible reason of anemia in all patients with iron deficiency anemia.

  3. Red blood cell abnormalities and the pathogenesis of anemia in end-stage renal disease.

    Science.gov (United States)

    Georgatzakou, Hara T; Antonelou, Marianna H; Papassideri, Issidora S; Kriebardis, Anastasios G

    2016-08-01

    Anemia is the most common hematologic complication in end-stage renal disease (ESRD). It is ascribed to decreased erythropoietin production, shortened red blood cell (RBC) lifespan, and inflammation. Uremic toxins severely affect RBC lifespan; however, the implicated molecular pathways are poorly understood. Moreover, current management of anemia in ESRD is controversial due to the "anemia paradox" phenomenon, which underlines the need for a more individualized approach to therapy. RBCs imprint the adverse effects of uremic, inflammatory, and oxidative stresses in a context of structural and functional deterioration that is associated with RBC removal signaling and morbidity risk. RBCs circulate in hostile plasma by raising elegant homeostatic defenses. Variability in primary defect, co-morbidity, and therapeutic approaches add complexity to the pathophysiological background of the anemic ESRD patient. Several blood components have been suggested as biomarkers of anemia-related morbidity and mortality risk in ESRD. However, a holistic view of blood cell and plasma modifications through integrated omics approaches and high-throughput studies might assist the development of new diagnostic tests and therapies that will target the underlying pathophysiologic processes of ESRD anemia.

  4. Association of Five SNPs at the PARK16 locus as a Susceptibility Locus with Parkinson's Disease for Forensic Application

    Institute of Scientific and Technical Information of China (English)

    CUI Hong-gang; TIAN Xiao-fei; LUO Xiao-guang; LI Feng-rui; ZHU Lan-hui; ZHOU Yi-shu; REN Yan

    2013-01-01

    To investigate the association of five SNPs (rs823083,rs708723,rs4951261,rs823076 and rs16856110) at the PARK16 locus with Parkinson's disease (PD),and to potentiate its forensic application.The genomic DNAs of 215 PD patients and 212 matched controls from the northern Han Chinese population were amplified in two independent PCR systems and subsequently genotyped by digestion with the three endonucleases (Hinf Ⅰ,Nco Ⅰ and Msp Ⅰ).The genetic parameters and association studies were carried out with SPSS 13.0,Haploview version 4.2 and PLINK 1.07 sofiwares.We detected accurately all genotypes in the five SNPs with multiplex PCR-RFLP and mismatched multiplex PCR-RFLP techniques.The genotypes of four SNPs,except for rs823083,were in Hardy-Weinberg equilibrium.The four SNPs,rs16856110,rs4951261,rs708723 and rs823076,which were in linkage equilibrium,should not be associated with PD (P-values ranging from 0.077 to 0.544).The SNPs investigated at the PARK16 locus were not found to be involved in PD-associated blocks in the northern Han Chinese population.The allele distributions of rs708723,rs4951261,rs823076 and rs16856110 in the northern Han Chinese population can be highly polymorphic,which can be applied to genetic analvsis and forensic practices.

  5. 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.

  6. The correlation of anemia and contrast-induced nephropathy in patients with chronic kidney disease undergoing percutaneous coronary intervention

    Institute of Scientific and Technical Information of China (English)

    刘远辉

    2014-01-01

    Objective To investigate the correlation of anemia and contrast-induced nephropathy(CIN)in patients with chronic kidney disease(CKD)undergoing percutaneous coronary intervention(PCI).Methods A total of 292 patients with CKD undergoing PCI admitted to Guangdong General Hospital from October 2010 to December 2012were consecutively enrolled in this study.Anemia was

  7. Treatment of anemia in inflammatory bowel disease--systematic review and meta-analysis.

    Directory of Open Access Journals (Sweden)

    Tomer Avni

    Full Text Available BACKGROUND: Anemia is considered the most common systemic complication of inflammatory bowel disease (IBD. We aimed to provide all available evidence regarding the safety and efficacy of therapy existing today to correct anemia in IBD. METHODS: Systematic review and meta-analysis of randomized controlled trials that compared any treatment for anemia in patients with IBD. We searched electronic databases, conference proceedings and clinical trials registries. Two reviewers independently extracted data from included trials. The primary outcome was the effect of treatment for anemia in IBD on the hemoglobin (Hb response, defined as rate of patients who achieved an increase of 2 g/dl in Hb concentration at the end of the follow-up. Secondary outcomes included disease severity scores, iron indices, Hb levels, inflammatory markers, adverse effects, and mortality. Dichotomous data were analysed by calculating the relative risk (RR for each trial with the uncertainty in each result being expressed using 95% confidence intervals (CI. A fixed effect model was used, except in the event of significant heterogeneity between the trials (P40%, in which we used a random effects model. RESULTS: Nine trials fulfilled the inclusion criteria, to a total of 973 patients. We were able to perform meta-analysis for intravenous (IV versus oral iron and for ESAs versus placebo. IV iron was associated with a higher rate of achieving Hb response in comparison to oral iron; RR 1.25 (95% CI 1.04-1.51, I(2 = 2%, 4 trials, CRP levels and disease activity indexes were not significantly affected by IV iron. IV iron was associated with a decrease in adverse events that required discontinuation of intervention and without an increase in serious adverse. DISCUSSION: Treatment for anemia in IBD should include IV iron and not oral iron replacement, due to improved Hb response, no added toxicity and no negative effect on disease activity.

  8. Pernicious anemia

    Science.gov (United States)

    ... malabsorption); Anemia - intrinsic factor; Anemia - IF; Anemia - atrophic gastritis ... of pernicious anemia include: Weakened stomach lining (atrophic gastritis) An autoimmune condition in which the body's immune ...

  9. A rare association of celiac disease and aplastic anemia: case report of a child and review of literature.

    Science.gov (United States)

    Badyal, Rama Kumari; Sachdeva, Man Updesh Singh; Varma, Neelam; Thapa, Babu Ram

    2014-01-01

    An association between severe aplastic anemia and other autoimmune diseases is rare and has been described in adults for eosinophilic fasciitis, thymomas, systemic lupus erythematosus, and thyroid disorders. Herein we report a patient with celiac disease who was not strictly following a gluten-free diet and presented with progressive pallor, fever, and weakness of 1 month's duration. On investigation, he had pancytopenia, which on subsequent evaluation revealed aplastic anemia. An association between aplastic anemia and celiac disease has rarely been reported. To the best of author's knowledge, only 1 pediatric case of celiac disease associated with aplastic anemia has been published. This is the second report to suggest such an association in children.

  10. Autoimmune Hemolytic Anemia and Hodgkin’s Disease: An Unusual Pediatric Association

    Directory of Open Access Journals (Sweden)

    Maria Miguel Gomes

    2016-01-01

    Full Text Available Autoimmune hemolytic anemia (AIHA is a recognized complication of lymphoproliferative disorders. AIHA associated with Hodgkin’s disease (HD is uncommon especially in the pediatric population. The diagnosis of AIHA is usually associated with HD at the time of initial presentation or during the course of disease, but it could precede it by years to months. In adults the association of AIHA and HD is more frequent in advanced stages and in the nodular sclerosis and mixed cellularity type HD. Warm immune hemolytic anemia is mainly controlled with steroids and chemotherapy. We report a case of a pediatric patient with direct antiglobulin positive test at the diagnosis of a late relapse of stage III B mixed cellularity type HD.

  11. Anemia treatment and left ventricular hypertrophy in non-dialysis chronic kidney disease

    Institute of Scientific and Technical Information of China (English)

    Robert N. Foley; Peter A. McCullough

    2005-01-01

    @@ To this day, the target hemoglobin level that minimizes cardiovascular risk in chronic kidney disease (CKD) patients remains unclear. When one examines the many randomized trials of epoetin therapy in aggregate, enhanced quality of life provides the most cogent argument for hemoglobin levels above 110 g/L. It remains unclear whether treatment of anemia improves longevity, or even a surrogate marker (such as left ventricular [LV] mass index), especially when applied at earlier phases of CKD.

  12. CUBN as a novel locus for end-stage renal disease : insights from renal transplantation

    NARCIS (Netherlands)

    Reznichenko, Anna; Snieder, Harold; van den Born, Jacob; de Borst, Martin H; Damman, Jeffrey; van Dijk, Marcory C R F; van Goor, Harry; Hepkema, Bouke G; Hillebrands, Jan-Luuk; Leuvenink, Henri G D; Niesing, Jan; Bakker, Stephan J L; Seelen, Marcus; Navis, Gerjan

    2012-01-01

    Chronic kidney disease (CKD) is a complex disorder. As genome-wide association studies identified cubilin gene CUBN as a locus for albuminuria, and urinary protein loss is a risk factor for progressive CKD, we tested the hypothesis that common genetic variants in CUBN are associated with end-stage r

  13. CUBN as a novel locus for end-stage renal disease: insights from renal transplantation.

    NARCIS (Netherlands)

    Reznichenko, A.; Snieder, H.; Born, J. van den; Borst, M.H. de; Damman, J.; Dijk, M.C.R.F. van; Goor, H. van; Hepkema, B.G.; Hillebrands, J.L.; Leuvenink, H.G.; Niesing, J.; Bakker, S.J.; Seelen, M.; Navis, G.

    2012-01-01

    Chronic kidney disease (CKD) is a complex disorder. As genome-wide association studies identified cubilin gene CUBN as a locus for albuminuria, and urinary protein loss is a risk factor for progressive CKD, we tested the hypothesis that common genetic variants in CUBN are associated with end-stage r

  14. Haplotype-based association analysis of the MAPT locus in Late Onset Alzheimer's disease

    Directory of Open Access Journals (Sweden)

    Morris John C

    2007-01-01

    Full Text Available Abstract Background Late onset Alzheimer's disease (LOAD is a common sporadic form of the illness, affecting individuals above the age of 65 yrs. A prominent hypothesis for the aetiopathology of Alzheimer's disease is that in the presence of a β-amyloid load, individuals expressing a pathogenic form of tau protein (MAPT are at increased risk for developing the disease. Genetic studies in this pursuit have, however, yielded conflicting results. A recent study showed a significant haplotype association (H1c with AD. The current study is an attempt to replicate this association in an independently ascertained cohort. Results In this report we present the findings of a haplotype analysis at the MAPT locus. We failed to detect evidence of association of the H1c haplotype at the MAPT locus with LOAD. None of the six SNPs forming the H1c haplotype showed evidence of association with disease. In addition, nested clade analysis suggested the presence of independent mutations at multiple points in the haplotype network or homoplasy at the MAPT locus. Such homoplasy can confound single SNP tests for association. We do not detect evidence that the set of SNPs forming the H1c haplotype in general or rs242557 in particular are pathogenic for LOAD. Conclusion In conclusion, we employed two contemporary haplotype analysis tools to perform haplotype association analysis at the MAPT locus. Our data suggest that the tagged SNPs forming the H1c haplotype do not have a causal role in the pathogenesis of LOAD.

  15. The Cost-Effectiveness of Anemia Treatment for Persons with Chronic Kidney Disease.

    Directory of Open Access Journals (Sweden)

    Benjamin O Yarnoff

    Full Text Available Although major guidelines uniformly recommend iron supplementation and erythropoietin stimulating agents (ESAs for managing chronic anemia in persons with chronic kidney disease (CKD, there are differences in the recommended hemoglobin (Hb treatment target and no guidelines consider the costs or cost-effectiveness of treatment. In this study, we explored the most cost-effective Hb target for anemia treatment in persons with CKD stages 3-4.The CKD Health Policy Model was populated with a synthetic cohort of persons over age 30 with prevalent CKD stages 3-4 (i.e., not on dialysis and anemia created from the 1999-2010 National Health and Nutrition Examination Survey. Incremental cost-effectiveness ratios (ICERs, computed as incremental cost divided by incremental quality adjusted life years (QALYs, were assessed for Hb targets of 10 g/dl to 13 g/dl at 0.5 g/dl increments. Targeting a Hb of 10 g/dl resulted in an ICER of $32,111 compared with no treatment and targeting a Hb of 10.5 g/dl resulted in an ICER of $32,475 compared with a Hb target of 10 g/dl. QALYs increased to 4.63 for a Hb target of 10 g/dl and to 4.75 for a target of 10.5 g/dl or 11 g/dl. Any treatment target above 11 g/dl increased medical costs and decreased QALYs.In persons over age 30 with CKD stages 3-4, anemia treatment is most cost-effective when targeting a Hb level of 10.5 g/dl. This study provides important information for framing guidelines related to treatment of anemia in persons with CKD.

  16. Circulating thrombopoietin levels in normal healthy blood donors and in aplastic anemia patients in relation to disease severity

    Directory of Open Access Journals (Sweden)

    Abhay Singh

    2015-01-01

    Full Text Available Background: Thrombopoietin (TPO is the key hematopoietic growth factor regulating the production of platelets from bone marrow megakaryocytes and maintaining platelet hemostasis. This study was done to find any relationship between the levels of thrombopoietin and the severity of disease in patients with aplastic anemia. Materials and Methods: Serum samples were collected from 52 patients with a confirmed diagnosis of aplastic anemia and 45 normal healthy blood donors of both sexes over a period of 2 years, and TPO was estimated by using commercially available TPO-specific-enzyme-linked immunosorbent assay. Results: The median TPO level of 1190 pg/ml (range 625-7651 pg/ml in aplastic anemia patients was significantly higher than the median TPO level of 121.1 pg/ml (81.25-237.7 pg/ml in normal healthy blood donors (P = 0.000. No significant difference was observed in TPO levels of male and female patients (P = 0.453. The median TPO concentrations observed in very severe aplastic anemia, severe aplastic anemia, and nonsevere aplastic anemia were 2765 pg/ml (range 625-6451 pg/ml, 1190 pg/ml (range 672.1-7651 pg/ml, and 1111.5 pg/ml (range 761.1-2289.2 pg/ml, respectively. TPO in patients of very severe aplastic anemia was significantly higher than patients of nonsevere aplastic anemia (P = 0.043, with no significant relation among rest of the groups. Discussion: TPO levels in aplastic anemia patients were significantly higher than in healthy blood donors; however, in aplastic anemia patients TPO levels were significantly higher only in patients with very severe disease.

  17. Methoxy polyethylene glycol-epoetin beta for anemia with chronic kidney disease

    Directory of Open Access Journals (Sweden)

    Ohashi N

    2012-03-01

    Full Text Available Naro Ohashi1, Yukitoshi Sakao2, Hideo Yasuda1, Akihiko Kato2, Yoshihide Fujigaki11Internal Medicine 1, 2Blood Purification Unit, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka, JapanAbstract: Chronic kidney disease (CKD is a risk factor for end-stage renal failure and cardiovascular events. In patients with CKD, anemia is often caused by decreased erythropoietin production relative to hemoglobin levels. As correction of anemia is associated with improved cardiac and renal function and quality of life, erythropoiesis-stimulating agents (ESAs are standard therapy for anemia in CKD patients. However, traditional ESAs such as epoetin or darbepoetin have short half-lives and require frequent administration, dose changes, and close monitoring of hemoglobin concentration to maintain target hemoglobin levels. Methoxy polyethylene glycol-epoetin beta (MPG-EPO is the only ESA that is generated by chemical modification of glycosylated erythropoietin through the integration of one specific, long, linear chain of polyethylene glycol. This ESA induces continuous erythropoietin receptor activation and has a long half-life (approximately 130 hours. Subcutaneous or intravenous administration of MPG-EPO once every 2 weeks or monthly achieved a high hemoglobin response rate in patients with anemia associated with CKD, regardless of whether the patient was undergoing dialysis. According to data from an observational time and motion study, MPG-EPO maintains hemoglobin levels when the same dose is administered, however infrequently. This suggests that compared with the use of traditional ESAs, administration of MPG-EPO reduces the overall time and cost associated with the management of anemia in CKD patients undergoing dialysis. MPG-EPO is generally well tolerated and most adverse events are of mild to moderate severity. The most commonly reported adverse effects are hypertension, nasopharyngitis, and diarrhea. Subcutaneous injection of MPG-EPO is

  18. Sickle Cell Anemia

    Science.gov (United States)

    Sickle cell anemia is a disease in which your body produces abnormally shaped red blood cells. The cells ... red blood cells. This leads to anemia. The sickle cells also get stuck in blood vessels, blocking blood ...

  19. Analysis of non-typeable Haemophilus influenzae in invasive disease reveals lack of the capsule locus.

    Science.gov (United States)

    Lâm, T-T; Claus, H; Frosch, M; Vogel, U

    2016-01-01

    Among invasive Haemophilus influenzae, unencapsulated strains have largely surpassed the previously predominant serotype b (Hib) because of Hib vaccination. Isolates without the genomic capsule (cap) locus are designated non-typeable H. influenzae (NTHi). They are different from capsule-deficient variants that show deletion of the capsule transport gene bexA within the cap locus. The frequency of capsule-deficient variants in invasive disease is unknown. We analysed 783 unencapsulated invasive isolates collected over 5 years in Germany and found no single capsule-deficient isolate. Invasive unencapsulated strains in Germany were exclusively NTHi. A negative serotyping result by slide agglutination was therefore highly predictive for NTHi.

  20. Anemia in Chronic Obstructive Pulmonary Disease and the Potential Role of Iron Deficiency.

    Science.gov (United States)

    Vasquez, Amber; Logomarsino, John V

    2016-01-01

    The purpose of this review is to evaluate the role of anemia on patient outcomes in chronic obstructive pulmonary disease (COPD), the potential contribution that low iron stores may play in this process, and possible treatment considerations. A review of research studies found that anemia is associated with declining functional outcomes, increased health care utilization and costs, and increased mortality in COPD. Associations exist between reduced iron intake and progression of COPD and in reduction of iron status with declining lung function. Currently data are limited on the effects of either treating anemia or utilizing iron supplementation in anemic COPD patients. If iron supplementation might therefore reverse some of the declines that patients experience, then routine screening and treatment may turn out to be an effective, simple and inexpensive intervention. Iron supplementation models utilized in other inflammatory-related disease states were reviewed as a possible starting point to evaluate treatment options in COPD. Future research can be directed to establish best practice standards for the use of iron supplementation in COPD.

  1. Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease.

    Science.gov (United States)

    Khor, Chiea Chuen; Davila, Sonia; Breunis, Willemijn B; Lee, Yi-Ching; Shimizu, Chisato; Wright, Victoria J; Yeung, Rae S M; Tan, Dennis E K; Sim, Kar Seng; Wang, Jie Jin; Wong, Tien Yin; Pang, Junxiong; Mitchell, Paul; Cimaz, Rolando; Dahdah, Nagib; Cheung, Yiu-Fai; Huang, Guo-Ying; Yang, Wanling; Park, In-Sook; Lee, Jong-Keuk; Wu, Jer-Yuarn; Levin, Michael; Burns, Jane C; Burgner, David; Kuijpers, Taco W; Hibberd, Martin L

    2011-11-13

    Kawasaki disease is a systemic vasculitis of unknown etiology, with clinical observations suggesting a substantial genetic contribution to disease susceptibility. We conducted a genome-wide association study and replication analysis in 2,173 individuals with Kawasaki disease and 9,383 controls from five independent sample collections. Two loci exceeded the formal threshold for genome-wide significance. The first locus is a functional polymorphism in the IgG receptor gene FCGR2A (encoding an H131R substitution) (rs1801274; P = 7.35 × 10(-11), odds ratio (OR) = 1.32), with the A allele (coding for histadine) conferring elevated disease risk. The second locus is at 19q13, (P = 2.51 × 10(-9), OR = 1.42 for the rs2233152 SNP near MIA and RAB4B; P = 1.68 × 10(-12), OR = 1.52 for rs28493229 in ITPKC), which confirms previous findings(1). The involvement of the FCGR2A locus may have implications for understanding immune activation in Kawasaki disease pathogenesis and the mechanism of response to intravenous immunoglobulin, the only proven therapy for this disease.

  2. [Treatment of anemia in chronic kidney disease--position statement of the Croatian Society for Nephrology, Dialysis and Transplantation and review of the KDIGO and ERPB guidelines].

    Science.gov (United States)

    Rački, Sanjin; Bašić-Jukić, Nikolina; Kes, Petar; Ljutić, Dragan; Lovčić, Vesna; Prkačin, Ingrid; Radić, Josipa; Vujičić, Božidar; Bubić, Ivan; Jakić, Marko; Belavić, Žarko; Sefer, Siniša; Pehai, Mario; Klarić, Dragan; Gulin, Marijana

    2014-04-01

    Renal anemia is the result of chronic kidney disease (CKD) and deteriorates with disease progression. Anemia may be the first sign of kidney disease. In all patients with anemia and CKD, diagnostic evaluation is required. Prior to diagnosing renal anemia, it is necessary to eliminate the other possible causes. Direct correlation between the concentration of hemoglobin and the stage of renal failure is well known. Early development of anemia is common in diabetic patients. Correction of anemia may slow the progression of CKD. Anemia is an independent risk factor for developing cardiovascular disease in patients with CKD. Treatment of anemia in patients with CKD is based on current guidelines. Recently, the Kidney Disease: Improving Global Outcomes (KDIGO) group has produced comprehensive clinical practice guidelines for the management of anemia in CKD patients and ERBP (European Renal Best Practice) group its position statement and comments on the KDIGO guidelines. The Croatian Society of Nephrology, Dialysis and Transplantation (HDNDT) has already published its own guidelines based on the recommendations and positive experience of European and international professional societies, as well as on own experience. The latest version of Croatian guidelines was published in 2008. Since then, on the basis of research and clinical practice, there have been numerous changes in the modern understanding of the treatment of anemia in CKD. Consequently, HDNDT hereby publishes a review of the recent recommendations of international professional societies, expressing the attitude about treating anemia in CKD as a basis for new guidelines tailored to the present time.

  3. Maternal anti-M induced hemolytic disease of newborn followed by prolonged anemia in newborn twins

    Directory of Open Access Journals (Sweden)

    Satyam Arora

    2015-01-01

    Full Text Available Allo-anti-M often has an immunoglobulin G (IgG component but is rarely clinically significant. We report a case of hemolytic disease of the fetus and newborn along with prolonged anemia in newborn twins that persisted for up to 70 days postbirth. The aim was to diagnose and successfully manage hemolytic disease of newborn (HDN due to maternal alloimmunization. Direct antiglobulin test (DAT, antigen typing, irregular antibody screening and identification were done by polyspecific antihuman globulin cards and standard tube method. At presentation, the newborn twins (T1, T2 had HDN with resultant low reticulocyte count and prolonged anemia, which continued for up to 70 days of life. Blood group of the twins and the mother was O RhD positive. DAT of the both newborns at birth was negative. Anti-M was detected in mothers as well as newborns. Type of antibody in mother was IgG and IgM type whereas in twins it was IgG type only. M antigen negative blood was transfused thrice to twin-1 and twice to twin-2. Recurring reduction of the hematocrit along with low reticulocyte count and normal other cell line indicated a pure red cell aplastic state. Anti-M is capable of causing HDN as well as prolonged anemia (red cell aplasia due to its ability to destroy the erythroid precursor cells. Newborns with anemia should be evaluated for all the possible causes to establish a diagnosis and its efficient management. Mother should be closely monitored for future pregnancies as well.

  4. Anemia in pregnancy.

    Science.gov (United States)

    Horowitz, Kari M; Ingardia, Charles J; Borgida, Adam F

    2013-06-01

    Hemodynamic changes occur in pregnancy to prepare for expected blood loss at delivery. Physiologic anemia occurs in pregnancy because plasma volume increases more quickly than red cell mass. Anemia is most commonly classified as microcytic, normocytic, or macrocytic. Iron deficiency anemia accounts for 75% of all anemias in pregnancy. Oral iron supplementation is the recommended treatment of iron deficiency anemia in pregnancy. Parenteral iron and erythropoietin can also be used in severe or refractory cases. Outcomes and treatments for other forms of inherited and acquired anemias in pregnancy vary by disease, and include nutritional supplementation, corticosteroids, supportive transfusions, and splenectomy.

  5. Resistance to Recombinant Human Erythropoietin Therapy in a Rat Model of Chronic Kidney Disease Associated Anemia.

    Science.gov (United States)

    Garrido, Patrícia; Ribeiro, Sandra; Fernandes, João; Vala, Helena; Rocha-Pereira, Petronila; Bronze-da-Rocha, Elsa; Belo, Luís; Costa, Elísio; Santos-Silva, Alice; Reis, Flávio

    2015-12-25

    This study aimed to elucidate the mechanisms explaining the persistence of anemia and resistance to recombinant human erythropoietin (rHuEPO) therapy in a rat model of chronic kidney disease (CKD)-associated anemia with formation of anti-rHuEPO antibodies. The remnant kidney rat model of CKD induced by 5/6 nephrectomy was used to test a long-term (nine weeks) high dose of rHuEPO (200 UI/kg bw/week) treatment. Hematological and biochemical parameters were evaluated as well as serum and tissue (kidney, liver and/or duodenum) protein and/or gene expression of mediators of erythropoiesis, iron metabolism and tissue hypoxia, inflammation, and fibrosis. Long-term treatment with a high rHuEPO dose is associated with development of resistance to therapy as a result of antibodies formation. In this condition, serum EPO levels are not deficient and iron availability is recovered by increased duodenal absorption. However, erythropoiesis is not stimulated, and the resistance to endogenous EPO effect and to rHuEPO therapy results from the development of a hypoxic, inflammatory and fibrotic milieu in the kidney tissue. This study provides new insights that could be important to ameliorate the current therapeutic strategies used to treat patients with CKD-associated anemia, in particular those that become resistant to rHuEPO therapy.

  6. Chromosome substitution strain assessment of a Huntington's disease modifier locus.

    Science.gov (United States)

    Ramos, Eliana Marisa; Kovalenko, Marina; Guide, Jolene R; St Claire, Jason; Gillis, Tammy; Mysore, Jayalakshmi S; Sequeiros, Jorge; Wheeler, Vanessa C; Alonso, Isabel; MacDonald, Marcy E

    2015-04-01

    Huntington's disease (HD) is a dominant neurodegenerative disorder that is due to expansion of an unstable HTT CAG repeat for which genome-wide genetic scans are now revealing chromosome regions that contain disease-modifying genes. We have explored a novel human-mouse cross-species functional prioritisation approach, by evaluating the HD modifier 6q23-24 linkage interval. This unbiased strategy employs C57BL/6J (B6J) Hdh(Q111) knock-in mice, replicates of the HD mutation, and the C57BL/6J-chr10(A/J)/NaJ chromosome substitution strain (CSS10), in which only chromosome 10 (chr10), in synteny with the human 6q23-24 region, is derived from the A/J (AJ) strain. Crosses were performed to assess the possibility of dominantly acting chr10 AJ-B6J variants of strong effect that may modulate CAG-dependent Hdh(Q111/+) phenotypes. Testing of F1 progeny confirmed that a single AJ chromosome had a significant effect on the rate of body weight gain and in Hdh(Q111) mice the AJ chromosome was associated subtle alterations in somatic CAG instability in the liver and the formation of intra-nuclear inclusions, as well as DARPP-32 levels, in the striatum. These findings in relatively small cohorts are suggestive of dominant chr10 AJ-B6 variants that may modify effects of the CAG expansion, and encourage a larger study with CSS10 and sub-strains. This cross-species approach may therefore be suited to functional in vivo prioritisation of genomic regions harbouring genes that can modify the early effects of the HD mutation.

  7. Degenerative alterations in noradrenergic neurons of the locus coeruleus in Alzheimer’s disease****

    Institute of Scientific and Technical Information of China (English)

    Lihua Liu; Saiping Luo; Leping Zeng; Weihong Wang; Liming Yuan; Xiaohong Jian

    2013-01-01

    Mice carrying mutant amyloid-β precursor protein and presenilin-1 genes (APP/PS1 double trans-genic mice) have frequently been used in studies of Alzheimer’s disease; however, such studies have focused mainly on hippocampal and cortical changes. The severity of Alzheimer’s disease is known to correlate with the amount of amyloid-βprotein deposition and the number of dead neurons in the locus coeruleus. In the present study, we assigned APP/PS1 double transgenic mice to two groups according to age: young mice (5–6 months old) and aged mice (16–17 months old). Age-matched wild-type mice were used as controls. Immunohistochemistry for tyrosine hydroxylase (a marker of catecholaminergic neurons in the locus coeruleus) revealed that APP/PS1 mice had 23%fewer cel s in the locus coeruleus compared with aged wild-type mice. APP/PS1 mice also had increased numbers of cel bodies of neurons positive for tyrosine hydroxylase, but fewer tyrosine hydroxylase-positive fibers, which were also short, thick and broken. Quantitative analysis using unbiased stereology showed a significant age-related increase in the mean volume of tyrosine hy-droxylase-positive neurons in aged APP/PS1 mice compared with young APP/PS1 mice. Moreover, the mean volume of tyrosine hydroxylase-positive neurons was positively correlated with the total volume of the locus coeruleus. These findings indicate that noradrenergic neurons and fibers in the locus coeruleus are predisposed to degenerative alterations in APP/PS1 double transgenic mice.

  8. TREATMENT OF ANEMIA AND IMPROVEMENT OF QUALITY OF LIFE AMONG PATIENTS WITH CROHN'S DISEASE: experience using ferric carboxymaltose

    Directory of Open Access Journals (Sweden)

    Carlos Walter SOBRADO

    2015-12-01

    Full Text Available Objectives - Anemia is the most common hematological alteration in patients with Crohn's disease, and is frequently related to intestinal inflammatory activity. Its cause is multifactorial and mostly associated with absolute iron deficiency (iron deficiency anemia and/or functional iron deficiency (inflammation anemia or anemia of chronic disease. It may also be identified through other causes, such as folic acid or vitamin B12 deficiency and secondary to adverse effects from medications (salicylic derivatives and immunosuppressive drugs. In the present study, patients with active Crohn's disease and anemia were evaluated and treated with intravenous ferric carboxymaltose. We discuss the therapeutic schemes (doses, safety, results and improvement of quality of life. Methods - In the present prospective study, 10 consecutive patients with Crohn's disease, with moderate to severe activity, with anemia (Hb: 6.7 to 10 g/dL, who were attended between March 2014 and March 2015, were evaluated. Six (60% were men and four were women, all with moderate or severe anemia (hemoglobin <10 g/dL. They were treated with a maximum of three intravenous infusions of 1000 mg of ferric carboxymaltose, of at least 15 minutes in duration. It was also sought to correlate the inflammatory Crohn's disease activity degree (measured using the Crohn's Disease Activity Index, CDAI and C-reactive protein level with the severity of anemia. The primary outcome was an increase in Hb of ≥2 g/dL and the secondary outcome was the normalization of anemia (Hb ≥12 g/dL for women and ≥13 g/dL for men and the improvement in quality of life seen 12 weeks after the last application of carboxymaltose. Results - Among the 10 patients studied, parenteral iron supplementation was administered in three cases during hospitalization and the others received this on an outpatient basis. The total iron dose ranged from 1,000 to 2,000 mg, with an average of 1,650 mg. Crohn's disease activity

  9. Locus of control, depression and quality of life among persons with sickle cell disease in Jamaica.

    Science.gov (United States)

    Gibson, Roger C; Morgan, Kai A D; Abel, Wendel D; Sewell, Clayton A; Martin, Jacqueline S; Lowe, Gillian A; Haye, Winston De La; Edwards, Christopher L; O'Garo, Keisha N; Reid, Marvin E; Asnani, Monika R

    2013-01-01

    This study explored how locus of control (LOC), depression and quality of life (QOL) interplay in patients with sickle cell disease. One hundred and forty-three sickle cell clinic patients with consecutive clinic consultations completed the Multidimensional Health Locus of Control and Short Factor 36 (SF-36) scales as well as the Beck Depression Inventory. Participants in this study had higher scores on the "chance", "other people" and "internal" domains of LOC than persons with a number of other chronic illnesses in a previous study. Hierarchical regression analyses showed that high scores on the "internal" domain of LOC were associated with better QOL and fewer symptoms of depression. Depressive symptoms were greater in persons with high scores on the "other people" LOC domain and in younger persons. These findings would suggest that it is possible that interventions which enhance internal LOC and discourage "other people" orientations might improve QOL and ameliorate depression among persons with sickle cell disease.

  10. Diabetes mellitus increases the prevalence of anemia in patients with chronic kidney disease: A nested case-control study

    Science.gov (United States)

    Loutradis, Charalampos; Skodra, Alexandra; Georgianos, Panagiotis; Tolika, Panagiota; Alexandrou, Dimitris; Avdelidou, Afroditi; Sarafidis, Pantelis A

    2016-01-01

    AIM: To compare anemia prevalence between matched chronic kidney disease (CKD) patients with and without diabetes mellitus (DM) and to assess factors associated with anemia development. METHODS: This is a nested case-control study of 184 type-2 diabetic and 184 non-diabetic CKD patients from a prospectively assembled database of a Nephrology outpatient clinic, matched for gender, age and estimated glomerular filtration rate (eGFR). Prevalence of anemia (hemoglobin: Men: recombinant erythropoietin) was examined in comparison, in the total population and by CKD Stage. Univariate and multivariate logistic regression analyses were conducted to identify factors associated with anemia. RESULTS: The total prevalence of anemia was higher in diabetics (47.8% vs 33.2%, P = 0.004). Accordingly, prevalence was higher in diabetics in CKD Stage 3 (53.5% vs 33.1%, P < 0.001) and particularly in Stage 3a (60.4% vs 26.4%, P < 0.001), whereas it was non-significantly higher in Stage 4 (61.3% vs 48.4%; P = 0.307). Serum ferritin was higher in diabetics in total and in CKD stages, while serum iron was similar between groups. In multivariate analyses, DM (OR = 2.206, 95%CI: 1.196-4.069), CKD Stages 3a, 3b, 4 (Stage 4: OR = 12.169, 95%CI: 3.783-39.147) and serum iron (OR = 0.976, 95%CI: 0.968-0.985 per mg/dL increase) were independently associated with anemia. CONCLUSION: Prevalence of anemia progressively increases with advancing stages of CKD and is higher in diabetic than matched non-diabetic CKD patients and diabetes is independently associated with anemia occurrence. Detection and treatment of anemia in diabetic CKD patients should be performed earlier than non-diabetic counterparts. PMID:27458564

  11. Sickle Cell Anemia, the First Molecular Disease: Overview of Molecular Etiology, Pathophysiology, and Therapeutic Approaches

    Directory of Open Access Journals (Sweden)

    Martin H. Steinberg

    2008-01-01

    Full Text Available The root cause of sickle cell disease is a single β-globin gene mutation coding for the sickle β-hemoglobin chain. Sickle hemoglobin tetramers polymerize when deoxygenated, damaging the sickle erythrocyte. A multifaceted pathophysiology, triggered by erythrocyte injury induced by the sickle hemoglobin polymer, and encompassing more general cellular and tissue damage caused by hypoxia, oxidant damage, inflammation, abnormal intracellular interactions, and reduced nitric oxide bioavailability, sets off the events recognized clinically as sickle cell disease. This disease is a group of related disorders where sickle hemoglobin is the principal hemoglobin species. All have varying degrees of chronic hemolytic anemia, vasculopathy, vasoocclusive disease, acute and chronic organ damage, and shortened life span. Its complex pathophysiology, of which we have a reasonable understanding, provides multiple loci for potential therapeutic intervention.

  12. Disruption of the ugt1 locus in mice resembles human Crigler-Najjar type I disease.

    Science.gov (United States)

    Nguyen, Nghia; Bonzo, Jessica A; Chen, Shujuan; Chouinard, Sarah; Kelner, Michael J; Hardiman, Gary; Bélanger, Alain; Tukey, Robert H

    2008-03-21

    The 9 UDP-glucuronosyltranferases (UGTs) encoded by the UGT1 locus in humans are key enzymes in the metabolism of most drugs as well as endogenous substances such as bile acids, fatty acids, steroids, hormones, neurotransmitters, and bilirubin. Severe unconjugated hyperbilirubinemia in humans that suffer from Crigler-Najjar type I disease results from lesions in the UGT1A1 gene and is often fatal. To examine the physiological importance of the Ugt1 locus in mice, this locus was rendered non-functional by interrupting exon 4 to create Ugt1(-/-) mice. Because UGT1A1 in humans is responsible for 100% of the conjugated bilirubin, it followed that newborn Ugt1(-/-) mice developed serum levels of unconjugated bilirubin that were 40-60 times higher than Ugt1(+/-) or wild-type mice. The result of extreme unconjugated bilirubin in Ugt1(-/-) mice, comparable to the induced levels noted in patients with Crigler-Najjar type 1 disease, is fatal in neonatal Ugt1(-/-) mice within 2 weeks following birth. The extreme jaundice is present as a phenotype in skin color after 8 h. Neonatal Ugt1(-/-) mice exhibit no detectable UGT1A-specific RNA, which corresponds to a complete absence of UGT1A proteins in liver microsomes. Conserved glucuronidation activity attributed to the Ugt1 locus can be defined in Ugt1(-/-) mice, because UGT2-dependent glucuronidation activity is unaffected. Remarkably, the loss of UGT1A functionality in liver results in significant alterations in cellular metabolism as investigated through changes in gene expression. Thus, the loss of UGT1A function in Ugt1(-/-) mice leads to a metabolic syndrome that can serve as a model to further investigate the toxicities associated with unconjugated bilirubin and the impact of this disease in humans.

  13. Association Between the Chromosome 9p21 Locus and Angiographic Coronary Artery Disease Burden

    Science.gov (United States)

    Chan, Kenneth; MPharm; Patel, Riyaz S.; Newcombe, Paul; Nelson, Christopher P.; Qasim, Atif; Epstein, Stephen E.; Burnett, Susan; Vaccarino, Viola L.; Zafari, A. Maziar; Shah, Svati H.; Anderson, Jeffrey L.; Carlquist, John F.; Hartiala, Jaana; Allayee, Hooman; Hinohara, Kunihiko; Lee, Bok-Soo; Erl, Anna; Ellis, Katrina L.; Goel, Anuj; Schaefer, Arne S.; El Mokhtari, Nour Eddine; Goldstein, Benjamin A.; Hlatky, Mark A.; Go, Alan S.; Shen, Gong-Qing; Gong, Yan; Pepine, Carl; Laxton, Ross C.; Whittaker, John C.; Tang, W.H. Wilson; Johnson, Julie A.; Wang, Qing K.; Assimes, Themistocles L.; Nöthlings, Ute; Farrall, Martin; Watkins, Hugh; Richards, A. Mark; Cameron, Vicky A.; Muendlein, Axel; Drexel, Heinz; Koch, Werner; Park, Jeong Euy; Kimura, Akinori; Shen, Wei-feng; Simpson, Iain A.; Hazen, Stanley L.; Horne, Benjamin D.; Hauser, Elizabeth R.; Quyyumi, Arshed A.; Reilly, Muredach P.; Samani, Nilesh J.; Ye, Shu

    2013-01-01

    Objectives This study sought to ascertain the relationship of 9p21 locus with: 1) angiographic coronary artery disease (CAD) burden; and 2) myocardial infarction (MI) in individuals with underlying CAD. Background Chromosome 9p21 variants have been robustly associated with coronary heart disease, but questions remain on the mechanism of risk, specifically whether the locus contributes to coronary atheroma burden or plaque instability. Methods We established a collaboration of 21 studies consisting of 33,673 subjects with information on both CAD (clinical or angiographic) and MI status along with 9p21 genotype. Tabular data are provided for each cohort on the presence and burden of angiographic CAD, MI cases with underlying CAD, and the diabetic status of all subjects. Results We first confirmed an association between 9p21 and CAD with angiographically defined cases and control subjects (pooled odds ratio [OR]: 1.31, 95% confidence interval [CI]: 1.20 to 1.43). Among subjects with angiographic CAD (n = 20,987), random-effects model identified an association with multivessel CAD, compared with those with single-vessel disease (OR: 1.10, 95% CI: 1.04 to 1.17)/copy of risk allele). Genotypic models showed an OR of 1.15, 95% CI: 1.04 to 1.26 for heterozygous carrier and OR: 1.23, 95% CI: 1.08 to 1.39 for homozygous carrier. Finally, there was no significant association between 9p21 and prevalent MI when both cases (n = 17,791) and control subjects (n = 15,882) had underlying CAD (OR: 0.99, 95% CI: 0.95 to 1.03)/risk allele. Conclusions The 9p21 locus shows convincing association with greater burden of CAD but not with MI in the presence of underlying CAD. This adds further weight to the hypothesis that 9p21 locus primarily mediates an atherosclerotic phenotype. PMID:23352782

  14. Predictors of fatal and nonfatal cardiovascular events in patients with type 2 diabetes mellitus, chronic kidney disease, and anemia

    DEFF Research Database (Denmark)

    McMurray, John J V; Uno, Hajime; Jarolim, Petr

    2011-01-01

    This study aims to examine predictors of cardiovascular mortality and morbidity in patients with chronic kidney disease (CKD). Individuals with the triad of diabetes, CKD, and anemia represent a significant proportion of patients with cardiovascular disease and are at particularly high risk...

  15. Aplastic Anemia & MDS International Foundation (AA&MDSIF): Bone Marrow Failure Disease Scientific Symposium 2014.

    Science.gov (United States)

    Visconte, Valeria; Lindsley, R Coleman; Berlyne, Deborah

    2015-01-01

    Bone marrow failure syndromes (BMFS) are characterized by a failure of the hematopoietic stem cells to produce adequate blood cells, resulting in either cytopenia (defect in one or more blood cell lineages) or pancytopenia (defect in all blood cell lineages). BMFS can be inherited or acquired. The pathogenesis of these diseases is very heterogeneous. Research efforts have been made all over the world to improve the basic knowledge of these diseases. The Aplastic Anemia and MDS International Foundation (AA&MDSIF) is an independent nonprofit organization whose mission is to help patients and family members cope with BMFS. Here, we summarize novel scientific discoveries in several BMFS that were presented at the 4th International Bone Marrow Failure Disease Scientific Symposium 2014 that AA&MDSIF sponsored on March 27-28, 2014, in Rockville, MD.

  16. Analysis of human chromosome 21 for a locus conferring susceptibility to Hirschsprung Disease

    Energy Technology Data Exchange (ETDEWEB)

    Bolk, S.; Duggan, D.J.; Chakravarti, A. [Case Western Reserve Univ., Cleveland, OH (United States)

    1994-09-01

    It has been estimated that approximately 5% of patients diagnosed with Hirschsprung disease (HSCR), or aganglionic megacolon, have trisomy 21. Since the incidence of Hirschsprung disease is 1/5000 live births and the incidence of trisomy 21 is approximately 1/1000 live births, the observed occurrence of HSCR in trisomy 21 is fifty times higher than expected. We propose that at least one locus on chromosome 21 predisposes to HSCR. Although at fifty times elevated risk, only 1% of Down Syndrome cases have HSCR. Thus additional genes or genetic events are necessary for HSCR to manifest in patients with trisomy 21. Based on segregation analysis, Badner et al. postulated that recessive genes may be responsible for up to 80% of HSCR. We postulate that at least one such gene is on chromosome 21 and increased homozygosity for common recessive HSCR mutations may be one cause for the elevated risk of HSCR in cases of trisomy 21. To map such a chromosome 21 locus, we are searching for segments of human chromosome 21 which are identical by descent from the parent in whom non-disjunction occurred. These segments will arise either from meiosis I (followed by a crossover between the centromere and the locus) or from meiosis II (followed by no crossovers). Nine nuclear families with a proband diagnosed with HSCR and Down Syndrome have been genotyped for 18 microsatellite markers spanning human chromosome 21q. In all nine cases analyzed thus far, trisomy 21 resulted from maternal non-disjunction at meiosis I. At this point no single IBD region is apparent. Therefore, additional families are being ascertained and additional markers at high density are being genotyped to map the HSCR locus.

  17. Aplastic Anemia & MDS International Foundation

    Science.gov (United States)

    ... Menu Donate I'm Like You. "The Aplastic Anemia and MDS International Foundation is helping patients like ... cope with bone marrow failure disease." Diseases Aplastic Anemia Myelodysplastic Syndromes (MDS) Paroxysmal Nocturnal Hemoglobinuria (PNH) Related ...

  18. Interstitial lung disease associated with Equine Infectious Anemia Virus infection in horses.

    Science.gov (United States)

    Bolfa, Pompei; Nolf, Marie; Cadoré, Jean-Luc; Catoi, Cornel; Archer, Fabienne; Dolmazon, Christine; Mornex, Jean-François; Leroux, Caroline

    2013-12-01

    EIA (Equine Infectious Anemia) is a blood-borne disease primarily transmitted by haematophagous insects or needle punctures. Other routes of transmission have been poorly explored. We evaluated the potential of EIAV (Equine Infectious Anemia Virus) to induce pulmonary lesions in naturally infected equids. Lungs from 77 EIAV seropositive horses have been collected in Romania and France. Three types of lesions have been scored on paraffin-embedded lungs: lymphocyte infiltration, bronchiolar inflammation, and thickness of the alveolar septa. Expression of the p26 EIAV capsid (CA) protein has been evaluated by immunostaining. Compared to EIAV-negative horses, 52% of the EIAV-positive horses displayed a mild inflammation around the bronchioles, 22% had a moderate inflammation with inflammatory cells inside the wall and epithelial bronchiolar hyperplasia and 6.5% had a moderate to severe inflammation, with destruction of the bronchiolar epithelium and accumulation of smooth muscle cells within the pulmonary parenchyma. Changes in the thickness of the alveolar septa were also present. Expression of EIAV capsid has been evidenced in macrophages, endothelial as well as in alveolar and bronchiolar epithelial cells, as determined by their morphology and localization. To summarize, we found lesions of interstitial lung disease similar to that observed during other lentiviral infections such as FIV in cats, SRLV in sheep and goats or HIV in children. The presence of EIAV capsid in lung epithelial cells suggests that EIAV might be responsible for the broncho-interstitial damages observed.

  19. Interstitial lung disease in an adult with Fanconi anemia: Clues to the pathogenesis

    Energy Technology Data Exchange (ETDEWEB)

    Rubinstein, W.S.; Wenger, S.L.; Hoffman, R.M. [Univ. of Pittsburgh, PA (United States)] [and others

    1997-03-31

    We have studied a 38-year-old man with a prior diagnosis of Holt-Oram syndrome, who presented with diabetes mellitus. He had recently taken prednisone for idiopathic interstitial lung disease and trimethoprim-sulfamethoxazole for sinusitis. Thrombocytopenia progressed to pancytopenia. The patient had skeletal, cardiac, renal, cutaneous, endocrine, hepatic, neurologic, and hematologic manifestations of Fanconi anemia (FA). Chest radiographs showed increased interstitial markings at age 25, dyspnea began in his late 20s, and he stopped smoking at age 32. At age 38, computerized tomography showed bilateral upper lobe fibrosis, lower lobe honeycombing, and bronchiectasis. Pulmonary function tests, compromised at age 29, showed a moderately severe obstructive and restrictive pattern by age 38. Serum alpha-1 antitrypsin level was 224 (normal 85-213) mg/dL and PI phenotype was M1. Karyotype was 46,X-Y with a marked increase in chromosome aberrations induced in vitro by diepoxybutane. The early onset and degree of pulmonary disease in this patient cannot be fully explained by environmental or known genetic causes. The International Fanconi Anemia Registry (IFAR) contains no example of a similar pulmonary presentation. Gene-environment (ecogenetic) interactions in FA seem evident in the final phenotype. The pathogenic mechanism of lung involvement in FA may relate to oxidative injury and cytokine anomalies. 49 refs., 2 figs., 1 tab.

  20. [George H. Whipple. Nobel Prize in Physiology or Medicine in 1934. Whipple's disease, pernicious anemia, and other contributions to medicine].

    Science.gov (United States)

    Ortiz-Hidalgo, Carlos

    2002-01-01

    George Hoyot Whipple (1878-1976) was awarded the Nobel Prize in Physiology and Medicine in 1934, along with Minot and Murphy for their studies in pernicious anemia. Whipple's name has been given to the bacterial disease which he describes in 1907 that we know today as Whipple's disease or intestinal lipodystrophy. He gave the name of thalasemia to the Mediterranean anemia of Cooley, and made diverse contributions to hematology and general pathology. He worked with William Welch in the Department of Pathology at Johns Hopkins Hospital and later became director of the University of Rochester. He died in 1976 at the age of 98.

  1. Anemia as a risk factor for cardiovascular disease and all-cause mortality in diabetes: the impact of chronic kidney disease.

    Science.gov (United States)

    Vlagopoulos, Panagiotis T; Tighiouart, Hocine; Weiner, Daniel E; Griffith, John; Pettitt, Dan; Salem, Deeb N; Levey, Andrew S; Sarnak, Mark J

    2005-11-01

    Anemia is a potential nontraditional risk factor for cardiovascular disease (CVD). This study evaluated whether anemia is a risk factor for adverse outcomes in people with diabetes and whether the risk is modified by the presence of chronic kidney disease (CKD). Persons with diabetes from four community-based studies were pooled: Atherosclerosis Risk in Communities, Cardiovascular Health Study, Framingham Heart Study, and Framingham Offspring Study. Anemia was defined as a hematocrit death and each outcome separately. Cox regression analysis was used to study the effect of anemia on the risk for outcomes after adjustment for potential confounders. The study population included 3015 individuals: 30.4% were black, 51.6% were women, 8.1% had anemia, and 13.8% had CKD. Median follow-up was 8.6 yr. There were 1215 composite events, 600 MI/fatal CHD outcomes, 300 strokes, and 857 deaths. In a model with a CKD-anemia interaction term, anemia was associated with the following hazard ratios (95% confidence intervals) in patients with CKD: 1.70 (1.24 to 2.34) for the composite outcome, 1.64 (1.03 to 2.61) for MI/fatal CHD, 1.81 (0.99 to 3.29) for stroke, and 1.88 (1.33 to 2.66) for all-cause mortality. Anemia was not a risk factor for any outcome in those without CKD (P > 0.2 for all outcomes). In persons with diabetes, anemia is primarily a risk factor for adverse outcomes in those who also have CKD.

  2. Hepcidin-Induced Iron Deficiency Is Related to Transient Anemia and Hypoferremia in Kawasaki Disease Patients

    Science.gov (United States)

    Huang, Ying-Hsien; Kuo, Ho-Chang; Huang, Fu-Chen; Yu, Hong-Ren; Hsieh, Kai-Sheng; Yang, Ya-Ling; Sheen, Jiunn-Ming; Li, Sung-Chou; Kuo, Hsing-Chun

    2016-01-01

    Kawasaki disease (KD) is a type of systemic vasculitis that primarily affects children under the age of five years old. For sufferers of KD, intravenous immunoglobulin (IVIG) has been found to successfully diminish the occurrence of coronary artery lesions. Anemia is commonly found in KD patients, and we have shown that in appropriately elevated hepcidin levels are related to decreased hemoglobin levels in these patients. In this study, we investigated the time period of anemia and iron metabolism during different stages of KD. A total of 100 patients with KD and 20 control subjects were enrolled in this study for red blood cell and hemoglobin analysis. Furthermore, plasma, urine hepcidin, and plasma IL-6 levels were evaluated using enzyme-linked immunosorbent assay in 20 KD patients and controls. Changes in hemoglobin, plasma iron levels, and total iron binding capacity (TIBC) were also measured in patients with KD. Hemoglobin, iron levels, and TIBC were lower (p < 0.001, p = 0.009, and p < 0.001, respectively) while plasma IL-6 and hepcidin levels (both p < 0.001) were higher in patients with KD than in the controls prior to IVIG administration. Moreover, plasma hepcidin levels were positively and significantly correlated with urine hepcidin levels (p < 0.001) prior to IVIG administration. After IVIG treatment, plasma hepcidin and hemoglobin levels significantly decreased (both p < 0.001). Of particular note was a subsequent gradual increase in hemoglobin levels during the three weeks after IVIG treatment; nevertheless, the hemoglobin levels stayed lower in KD patients than in the controls (p = 0.045). These findings provide a longitudinal study of hemoglobin changes and among the first evidence that hepcidin induces transient anemia and hypoferremia during KD’s acute inflammatory phase. PMID:27187366

  3. Severe iron overload and hyporegenerative anemia in a case with rhesus hemolytic disease: therapeutic approach to rare complications

    Directory of Open Access Journals (Sweden)

    Fatih Demircioğlu

    2010-09-01

    Full Text Available A 33 weeks’ gestation, a baby with rhesus hemolytic disease (RHD, who had received intrauterine transfusions twice, developed cholestatic hepatic disease and late hyporegenerative anemia. Her serum ferritin and bilirubin levels increased to 8842 ng/ml and 17.9 mg/dl, respectively. Liver biopsy showed cholestasis and severe iron overload. Treatment with recombinant erythropoietin (rHuEPO decreased the transfusion need, and intravenous deferoxamine resulted in a marked decreased in serum ferritin levels and normalization of liver function. In patients who have undergone intrauterine transfusions due to RHD, hyperferritinemia and late hyporegenerative anemia should be kept in mind. Chelation therapy in cases with symptomatic hyperferritinemia and rHuEPO treatment in cases with severe hyporegenerative anemia should be considered.

  4. Functional Analysis of the Coronary Heart Disease Risk Locus on Chromosome 21q22

    Directory of Open Access Journals (Sweden)

    Katherine E. Beaney

    2017-01-01

    Full Text Available Background. The coronary heart disease (CHD risk locus on 21q22 (lead SNP rs9982601 lies within a “gene desert.” The aim of this study was to assess if this locus is associated with CHD risk factors and to identify the functional variant(s and gene(s involved. Methods. A phenome scan was performed with UCLEB Consortium data. Allele-specific protein binding was studied using electrophoretic mobility shift assays. Dual-reporter luciferase assays were used to assess the impact of genetic variation on expression. Expression quantitative trait analysis was performed with Advanced Study of Aortic Pathology (ASAP and Genotype-Tissue Expression (GTEx consortium data. Results. A suggestive association between QT interval and the locus was observed (rs9982601  p=0.04. One variant at the locus, rs28451064, showed allele-specific protein binding and its minor allele showed 12% higher luciferase expression (p = 4.82 × 10−3 compared to the common allele. The minor allele of rs9982601 was associated with higher expression of the closest upstream genes (SLC5A3 1.30-fold increase p = 3.98 × 10−5; MRPS6 1.15-fold increase p = 9.60 × 10−4 in aortic intima media in ASAP. Both rs9982601 and rs28451064 showed a suggestive association with MRPS6 expression in relevant tissues in the GTEx data. Conclusions. A candidate functional variant, rs28451064, was identified. Future work should focus on identifying the pathway(s involved.

  5. Hemolytic anemia repressed hepcidin level without hepatocyte iron overload: lesson from Günther disease model

    Science.gov (United States)

    Millot, Sarah; Delaby, Constance; Moulouel, Boualem; Lefebvre, Thibaud; Pilard, Nathalie; Ducrot, Nicolas; Ged, Cécile; Lettéron, Philippe; de Franceschi, Lucia; Deybach, Jean Charles; Beaumont, Carole; Gouya, Laurent; De Verneuil, Hubert; Lyoumi, Saïd; Puy, Hervé; Karim, Zoubida

    2017-01-01

    Hemolysis occurring in hematologic diseases is often associated with an iron loading anemia. This iron overload is the result of a massive outflow of hemoglobin into the bloodstream, but the mechanism of hemoglobin handling has not been fully elucidated. Here, in a congenital erythropoietic porphyria mouse model, we evaluate the impact of hemolysis and regenerative anemia on hepcidin synthesis and iron metabolism. Hemolysis was confirmed by a complete drop in haptoglobin, hemopexin and increased plasma lactate dehydrogenase, an increased red blood cell distribution width and osmotic fragility, a reduced half-life of red blood cells, and increased expression of heme oxygenase 1. The erythropoiesis-induced Fam132b was increased, hepcidin mRNA repressed, and transepithelial iron transport in isolated duodenal loops increased. Iron was mostly accumulated in liver and spleen macrophages but transferrin saturation remained within the normal range. The expression levels of hemoglobin-haptoglobin receptor CD163 and hemopexin receptor CD91 were drastically reduced in both liver and spleen, resulting in heme- and hemoglobin-derived iron elimination in urine. In the kidney, the megalin/cubilin endocytic complex, heme oxygenase 1 and the iron exporter ferroportin were induced, which is reminiscent of significant renal handling of hemoglobin-derived iron. Our results highlight ironbound hemoglobin urinary clearance mechanism and strongly suggest that, in addition to the sequestration of iron in macrophages, kidney may play a major role in protecting hepatocytes from iron overload in chronic hemolysis. PMID:28143953

  6. [Maternal Crohn's disease-related vitamin B12 deficient megaloblastic anemia in an infant].

    Science.gov (United States)

    Ohyama, Wataru; Yamaoka, Masayoshi; Yokoi, Kentaro; Iwahashi, Megumi; Inage, Yuka; Arihiro, Seiji; Koganei, Kazutaka; Sugita, Akira; Ida, Hiroyuki; Akiyama, Masaharu

    2016-01-01

    We report an 11-month-old breast-fed boy with feeding difficulties, lethargy, and developmental delay. Blood examination showed pancytopenia and decreased serum levels of vitamin B12. Anisocytosis and poikilocytes were detected in his peripheral blood, and increased megaloblastosis without leukemic cells was detected in his bone marrow. After the diagnosis of megaloblastic anemia due to vitamin B12 deficiency, symptoms were improved by vitamin B12 administration. Further investigation of the mother identified Crohn's disease and suggested that the supply of vitamin B12 from the mother to the infant, via the placenta during pregnancy and via breast milk after birth, was decreased due to impaired absorption of vitamin B12 in the mother's small intestine. Magnetic resonance imaging of the boy's brain on admission showed cerebral cortex atrophy which had improved by the age of 1 year and 10 months after vitamin B12 treatment, though developmental delay was still evident at the age of 3 years. Infantile vitamin B12 deficiency often presents with nonspecific manifestations, such as developmental delay and failure to thrive, in addition to anemia and is thus not easily diagnosed. To prevent severe neurological sequelae, this condition must be rapidly diagnosed, because a prolonged duration increases the risk of permanent disabilities.

  7. CD33 Alzheimer’s disease locus: Altered monocyte function and amyloid biology

    Science.gov (United States)

    Bradshaw, Elizabeth M; Chibnik, Lori B; Keenan, Brendan T; Ottoboni, Linda; Raj, Towfique; Tang, Anna; Rosenkrantz, Laura L; Imboywa, Selina; Lee, Michelle; Von Korff, Alina; Morris, Martha C; Evans, Denis A; Johnson, Keith; Sperling, Reisa A; Schneider, Julie A; Bennett, David A; De Jager, Philip L

    2013-01-01

    In our functional dissection of the CD33 Alzheimer’s disease susceptibility locus, we find that the rs3865444C risk allele is associated with greater cell surface expression of CD33 in monocytes (t50 = 10.06, pjoint=1.3×10–13) of young and older individuals. It is also associated with (1) diminished internalization of Aβ42) (2) accumulation of neuritic amyloid pathology and fibrillar amyloid on in vivo imaging and (3), increased numbers of activated human microglia. PMID:23708142

  8. Anemia falciforme e infecções Sickle cell disease and infection

    Directory of Open Access Journals (Sweden)

    Dayana V. P. Di Nuzzo

    2004-01-01

    Full Text Available OBJETIVO: A alta prevalência de anemia falciforme em nosso meio e a elevada morbimortalidade por infecções associada a esta condição estimularam a realização deste artigo de revisão. FONTE DE DADOS: Realizamos uma revisão bibliográfica no banco de dados MEDLINE no período de 1986 até 2003. Foram encontradas cerca de 600 referências sobre o tema, sendo selecionados 35 artigos, os quais, aliados a capítulos de dois livros-textos, compuseram esta revisão. SÍNTESE DOS DADOS: Neste artigo, além de informações gerais a respeito da doença falciforme, são abordados alguns tópicos sobre as infecções mais freqüentemente observadas no paciente com anemia falciforme, assim como a profilaxia medicamentosa e imunizações disponíveis. CONCLUSÕES: Esta é uma revisão que visa fornecer à comunidade pediátrica informações sobre o binômio anemia falciforme e infecções, a fim de minimizar suas complicações nesta comunidade específica.OBJECTIVE: To discuss the high prevalence of sickle cell disease in our environment and the increased morbidity and mortality as a result of infection associated with this condition. SOURCES OF DATA: Review of MEDLINE from 1986 to 2003. We found around 600 references about the subject. Thirty-five journal articles were reviewed, in addition to chapters in two text books. SUMMARY OF THE FINDINGS: We discuss general information concerning sickle cell disease as well as a few topics about the most frequently observed infections in these patients. Drug prophylaxis and immunizations are also covered. CONCLUSIONS: This review hopes to provide the pediatric community with information concerning the association between sickle cell disease and infections, so as to minimize the occurrence of complications.

  9. [Sideroblastic anemias].

    Science.gov (United States)

    Matthes, T

    2006-01-01

    Sideroblastic anemias are a heterogenous group of disorders characterized by the presence of sideroblasts in the bone marrow aspirate. Current classification schemes distinguish between diseases of the heme synthesis pathway and diseases of other mitochondrial pathways which can either be of primary origin (defects in mitochondrial DNA) or of secondary origin (defects in nuclear DNA). Although several distinct hereditary forms exist, sideroblastic anemias are most frequently acquired diseases and belong to the group of myelodysplastic syndromes with the propensity to develop into overt leukemia. Treatment is mainly supportive (vitamins, blood transfusions, cytokines) and only rarely are bone marrow transplantations performed. The molecular defects of a few hereditary forms have already been elucidated, but the genes involved in the acquired forms are still largely unknown.

  10. Iron Deficiency Anemia in Relation to Respiratory Disease and Social Behaviors In Low-Income Infants in France.

    Science.gov (United States)

    Honig, Alice Sterling

    1993-01-01

    Examined a sample of 177 infants (age 9 through 12 months) with iron deficiency anemia (IDA) from low-income French, African, and North African Muslim families in Paris. Found a higher than normal incidence of otitis media and respiratory diseases such as bronchitis among the infants. Also examined the relationship between infant IDA and child…

  11. Intestine-specific Disruption of Hypoxia-inducible Factor (HIF)-2α Improves Anemia in Sickle Cell Disease.

    Science.gov (United States)

    Das, Nupur; Xie, Liwei; Ramakrishnan, Sadeesh K; Campbell, Andrew; Rivella, Stefano; Shah, Yatrik M

    2015-09-25

    Sickle cell disease (SCD) is caused by genetic defects in the β-globin chain. SCD is a frequently inherited blood disorder, and sickle cell anemia is a common type of hemoglobinopathy. During anemia, the hypoxic response via the transcription factor hypoxia-inducible factor (HIF)-2α is highly activated in the intestine and is essential in iron absorption. Intestinal disruption of HIF-2α protects against tissue iron accumulation in iron overload anemias. However, the role of intestinal HIF-2α in regulating anemia in SCD is currently not known. Here we show that in mouse models of SCD, disruption of intestinal HIF-2α significantly decreased tissue iron accumulation. This was attributed to a decrease in intestinal iron absorptive genes, which were highly induced in a mouse model of SCD. Interestingly, disruption of intestinal HIF-2α led to a robust improvement in anemia with an increase in RBC, hemoglobin, and hematocrit. This was attributed to improvement in RBC survival, hemolysis, and insufficient erythropoiesis, which is evident from a significant decrease in serum bilirubin, reticulocyte counts, and serum erythropoietin following intestinal HIF-2α disruption. These data suggest that targeting intestinal HIF-2α has a significant therapeutic potential in SCD pathophysiology.

  12. Intestine-specific Disruption of Hypoxia-inducible Factor (HIF)-2α Improves Anemia in Sickle Cell Disease*

    Science.gov (United States)

    Das, Nupur; Xie, Liwei; Ramakrishnan, Sadeesh K.; Campbell, Andrew; Rivella, Stefano; Shah, Yatrik M.

    2015-01-01

    Sickle cell disease (SCD) is caused by genetic defects in the β-globin chain. SCD is a frequently inherited blood disorder, and sickle cell anemia is a common type of hemoglobinopathy. During anemia, the hypoxic response via the transcription factor hypoxia-inducible factor (HIF)-2α is highly activated in the intestine and is essential in iron absorption. Intestinal disruption of HIF-2α protects against tissue iron accumulation in iron overload anemias. However, the role of intestinal HIF-2α in regulating anemia in SCD is currently not known. Here we show that in mouse models of SCD, disruption of intestinal HIF-2α significantly decreased tissue iron accumulation. This was attributed to a decrease in intestinal iron absorptive genes, which were highly induced in a mouse model of SCD. Interestingly, disruption of intestinal HIF-2α led to a robust improvement in anemia with an increase in RBC, hemoglobin, and hematocrit. This was attributed to improvement in RBC survival, hemolysis, and insufficient erythropoiesis, which is evident from a significant decrease in serum bilirubin, reticulocyte counts, and serum erythropoietin following intestinal HIF-2α disruption. These data suggest that targeting intestinal HIF-2α has a significant therapeutic potential in SCD pathophysiology. PMID:26296885

  13. Celiac disease manifesting as isolated cobalamin deficiency megaloblastic anemia: Case series and review

    Directory of Open Access Journals (Sweden)

    Vikram Sakaleshpur Kumar

    2014-01-01

    Full Text Available Celiac disease (CD is an immune-mediated enteropathy triggered by the ingestion of gluten in genetically susceptible individuals. It has been identified as one of the most common lifelong disorders on a worldwide basis. Enteropathy in CD is thought to be the final consequence of an abnormal immune reaction, showing features of both an innate and adaptive response to gluten prolamins. The clinical spectrum is wide, including cases with either typical intestinal or atypical extra intestinal features, or silent forms. Anemia has frequently been reported as the only manifestation or the most frequent extra-intestinal symptom of CD. The only available treatment consists in dietary exclusion of grains containing gluten.

  14. Study of anemia in nondialysis dependent chronic kidney disease with special reference to serum hepcidin

    Science.gov (United States)

    Goyal, H.; Mohanty, S.; Sharma, M.; Rani, A.

    2017-01-01

    We studied the role of serum hepcidin in anemia of chronic kidney disease (CKD) in a hospital-based cross-sectional study. Serum hepcidin, ferritin, and high-sensitivity C-reactive protein (hsCRP) levels were evaluated in patients of CKD. Hepcidin levels were increased in patients as compared to healthy adults. Hepcidin levels increased as CKD progressed through stage 3–5 (P trend = 0.015) but did not correlate with estimated glomerular filtration rate. Hepcidin correlated positively with ferritin (P EPO) levels (P = 0.0258) but did not correlate with either hsCRP or estimated glomerular filtration rate. Iron status influenced hepcidin levels of patients. Patients were divided according to iron status on the basis of TSAT and serum ferritin levels. We observed that while absolute iron deficiency (transferrin saturation EPO to overcome iron-restricted erythropoiesis. PMID:28182038

  15. Las anemias, sin anemia

    OpenAIRE

    Villamarin V., A.; Villamarin C., Maria José

    2011-01-01

    Estudiando las anemias idiopáticas, encontramos dos tipos: la anemia hipócroma megalocítica u enfermedad de Biermer y la anemia hipócroma microcítica o clorosis; en la mayoría de los casos estos dos tipos, se oponen por su figura hematológica, sus manifestaciones clínicas, su evolución y su terapéutica. La anemia de Biermer, tiene por remedio heroico el hígado a altas dosis; la segunda, el hierro en forma química. Pero debemos reconocer que ciertos síntomas son comunes a las anemias idiopátic...

  16. Identification of a shared genetic susceptibility locus for coronary heart disease and periodontitis.

    Directory of Open Access Journals (Sweden)

    Arne S Schaefer

    2009-02-01

    Full Text Available Recent studies indicate a mutual epidemiological relationship between coronary heart disease (CHD and periodontitis. Both diseases are associated with similar risk factors and are characterized by a chronic inflammatory process. In a candidate-gene association study, we identify an association of a genetic susceptibility locus shared by both diseases. We confirm the known association of two neighboring linkage disequilibrium regions on human chromosome 9p21.3 with CHD and show the additional strong association of these loci with the risk of aggressive periodontitis. For the lead SNP of the main associated linkage disequilibrium region, rs1333048, the odds ratio of the autosomal-recessive mode of inheritance is 1.99 (95% confidence interval 1.33-2.94; P = 6.9 x 10(-4 for generalized aggressive periodontitis, and 1.72 (1.06-2.76; P = 2.6 x 10(-2 for localized aggressive periodontitis. The two associated linkage disequilibrium regions map to the sequence of the large antisense noncoding RNA ANRIL, which partly overlaps regulatory and coding sequences of CDKN2A/CDKN2B. A closely located diabetes-associated variant was independent of the CHD and periodontitis risk haplotypes. Our study demonstrates that CHD and periodontitis are genetically related by at least one susceptibility locus, which is possibly involved in ANRIL activity and independent of diabetes associated risk variants within this region. Elucidation of the interplay of ANRIL transcript variants and their involvement in increased susceptibility to the interactive diseases CHD and periodontitis promises new insight into the underlying shared pathogenic mechanisms of these complex common diseases.

  17. Mouse models of Fanconi anemia

    Energy Technology Data Exchange (ETDEWEB)

    Parmar, Kalindi; D' Andrea, Alan [Department of Radiation Oncology, Dana-Farber Cancer Institute, Harvard Medical School, 44 Binney Street, Boston, MA 02115 (United States); Niedernhofer, Laura J., E-mail: niedernhoferl@upmc.edu [Department of Microbiology and Molecular Genetics, University of Pittsburgh School of Medicine and Cancer Institute, 5117 Centre Avenue, Hillman Cancer Center, Research Pavilion 2.6, Pittsburgh, PA 15213-1863 (United States)

    2009-07-31

    Fanconi anemia is a rare inherited disease characterized by congenital anomalies, growth retardation, aplastic anemia and an increased risk of acute myeloid leukemia and squamous cell carcinomas. The disease is caused by mutation in genes encoding proteins required for the Fanconi anemia pathway, a response mechanism to replicative stress, including that caused by genotoxins that cause DNA interstrand crosslinks. Defects in the Fanconi anemia pathway lead to genomic instability and apoptosis of proliferating cells. To date, 13 complementation groups of Fanconi anemia were identified. Five of these genes have been deleted or mutated in the mouse, as well as a sixth key regulatory gene, to create mouse models of Fanconi anemia. This review summarizes the phenotype of each of the Fanconi anemia mouse models and highlights how genetic and interventional studies using the strains have yielded novel insight into therapeutic strategies for Fanconi anemia and into how the Fanconi anemia pathway protects against genomic instability.

  18. A locus of group A Streptococcus involved in invasive disease and DNA transfer.

    Science.gov (United States)

    Hidalgo-Grass, Carlos; Ravins, Miriam; Dan-Goor, Mary; Jaffe, Joseph; Moses, Allon E; Hanski, Emanuel

    2002-10-01

    Group A streptococcus (GAS) causes diseases ranging from benign to severe infections such as necrotizing fasciitis (NF). The reasons for the differences in severity of streptococcal infections are unexplained. We developed the polymorphic-tag-lengths-transposon-mutagenesis (PTTM) method to identify virulence genes in vivo. We applied PTTM on an emm14 strain isolated from a patient with NF and screened for mutants of decreased virulence, using a mouse model of human soft-tissue infection. A mutant that survived in the skin but was attenuated in its ability to reach the spleen and to cause a lethal infection was identified. The transposon was inserted into a small open reading frame (ORF) in a locus termed sil, streptococcal invasion locus. sil contains at least five genes (silA-E) and is highly homologous to the quorum-sensing competence regulons of Streptococcus pneumoniae. silA and silB encode a putative two-component system whereas silD and silE encode two putative ABC transporters. silC is a small ORF of unknown function preceded by a combox promoter. Insertion and deletion mutants of sil had a diminished lethality in the animal model. Virulence of a deletion mutant of silC was restored when injected together with the avirulent emm14-deletion mutant, but not when these mutants were injected into opposite flanks of a mouse. DNA transfer between these mutants occurred in vivo but could not account for the complementation of virulence. DNA exchange between the emm14-deletion mutant and mutants of sil occurred also in vitro, at a frequency of approximately 10-8 for a single antibiotic marker. Whereas silC and silD mutants exchanged markers with the emm14 mutant, silB mutant did not. Thus, we identified a novel locus, which controls GAS spreading into deeper tissues and could be involved in DNA transfer.

  19. Ferumoxytol: a silver lining in the treatment of anemia of chronic kidney disease or another dark cloud?

    OpenAIRE

    Barton Pai A; Garba AO

    2012-01-01

    Amy Barton Pai, Adinoyi O GarbaAlbany College of Pharmacy and Health Sciences, Albany, New York, NY, USAAbstract: Intravenous iron therapy is pivotal in the treatment of anemia of chronic kidney disease to optimize the response of hemoglobin to erythropoiesis-stimulating agents. Intravenous iron use in patients with chronic kidney disease is on the rise. Recent clinical trial data prompting safety concerns regarding the use of erythropoiesis-stimulating agents has stimulated new US Food and D...

  20. Mouse models of Fanconi anemia

    OpenAIRE

    Parmar, Kalindi; D'Andrea, Alan; Niedernhofer, Laura J.

    2009-01-01

    Fanconi anemia is a rare inherited disease characterized by congenital anomalies, growth retardation, aplastic anemia and an increased risk of acute myeloid leukemia and squamous cell carcinomas. The disease is caused by mutation in genes encoding proteins required for the Fanconi anemia pathway, a response mechanism to replicative stress, including that caused by genotoxins that cause DNA interstrand crosslinks. Defects in the Fanconi anemia pathway lead to genomic instability and apoptosis ...

  1. Erythropoiesis-stimulating Agents and Anemia in Patients with Non-dialytic Chronic Kidney Disease.

    Science.gov (United States)

    Kim, Sun Moon; Kim, Kyeong Min; Kwon, Soon Kil; Kim, Hye-Young

    2016-01-01

    Anemia is common in patients with advanced chronic kidney disease (CKD). Though erythropoiesis-stimulating agents (ESAs) have been strongly endorsed in guidelines, it is of particular financial interest. Recently, the reimbursement of ESAs in non-dialytic patients was started by the Korean National Health Insurance System. Thus, we investigated the impact of the reimbursement of ESAs on the anemia care in non-dialytic CKD patients. Medical records of patients with advanced CKD (estimated GFR <30 mL/min/1.73 m(2)) were reviewed. Use of ESAs, blood transfusion, and hemoglobin concentrations were analyzed from one year prior to reimbursement to three years following. We used multivariable modified Poisson regression to estimate the utilization prevalence ratio (PRs). A total of 1,791 medical records were analyzed. The proportion of patients receiving ESAs increased from 14.8% before reimbursement to a peak 33.6% in 1 yr after reimbursement; thereafter, ESA use decreased to 22.4% in 3 yr after reimbursement (compared with baseline; PR, 2.19 [95% CI, 1.40-3.42]). In patients with Hb <10 g/dL, the proportion of receiving ESAs increased from 32.1% before reimbursement to 66.7% in 3 yr after reimbursement (compared with baseline; PR, 2.04 [95% CI, 1.25-3.32]). Mean hemoglobin concentrations were 10.06±1.54 g/dL before reimbursement and increased to 10.78±1.51 g/dL in 3 yr after the reimbursement change (P=0.001). However, the requirement of blood transfusion was not changed over time. With the reimbursement of ESAs, the advanced CKD patients were more likely to be treated with ESAs, and the hemoglobin concentrations increased.

  2. Hemolytic anemia

    Science.gov (United States)

    Anemia - hemolytic ... bones that helps form all blood cells. Hemolytic anemia occurs when the bone marrow isn't making ... destroyed. There are several possible causes of hemolytic anemia. Red blood cells may be destroyed due to: ...

  3. Epoetin zeta in the management of anemia associated with chronic kidney disease, differential pharmacology and clinical utility

    Directory of Open Access Journals (Sweden)

    Davis-Ajami ML

    2014-04-01

    Full Text Available Mary Lynn Davis-Ajami,1 Jun Wu,2 Katherine Downton,3 Emilie Ludeman,3 Virginia Noxon4 1Organizational Systems and Adult Health, University of Maryland School of Nursing, Baltimore, MD, USA; 2South Carolina College of Pharmacy, University of South Carolina, Greenville, SC, USA; 3Health Sciences and Human Services Library, University of Maryland, Baltimore, MD, USA; 4Department of Clinical Pharmacy and Outcomes Science, South Carolina College of Pharmacy, University of South Carolina, Columbia, SC, USA Abstract: Epoetin zeta was granted marketing authorization in October 2007 by the European Medicines Agency as a recombinant human erythropoietin erythropoiesis-stimulating agent to treat symptomatic anemia of renal origin in adult and pediatric patients on hemodialysis and adults on peritoneal dialysis, as well as for symptomatic renal anemia in adult patients with renal insufficiency not yet on dialysis. Currently, epoetin zeta can be administered either subcutaneously or intravenously to correct for hemoglobin concentrations ≤10 g/dL (6.2 mmol/L or with dose adjustment to maintain hemoglobin levels at desired levels not in excess of 12 g/dL (7.5 mmol/L. This review article focuses on epoetin zeta indications in chronic kidney disease, its use in managing anemia of renal origin, and discusses its pharmacology and clinical utility. Keywords: biosimilar, chronic kidney disease, epoetin alfa, erythropoiesis, renal anemia, Retacrit®

  4. Distinguishing anemia and iron deficiency of heart failure: signal for severity of disease or unmet therapeutic need?

    Science.gov (United States)

    Beavers, Craig J; Alburikan, Khalid A; Rodgers, Jo E; Dunn, Steven P; Reed, Brent N

    2014-07-01

    Despite advances in the management of heart failure (HF), quality of life and other outcomes remain suboptimal for many patients. Anemia and iron deficiency are comorbidities associated with adverse outcomes, although their pathophysiology in the setting of HF is not entirely understood. Anemia and iron deficiency may exist independently and may be a consequence of the systemic inflammatory state characterized by chronic HF. However, it is unclear whether serum hemoglobin concentrations and other hematologic parameters serve as markers for the severity of disease or represent novel therapeutic targets. Research in this area has focused primarily on therapies known to be effective for these conditions in other chronic disease states with similar pathophysiologic features (e.g., end-stage renal disease). Despite its many practical advantages, minimal evidence exists to support the use of oral iron supplementation in this setting. In contrast, intravenous iron has been the subject of several recent investigations, demonstrating improvements in both surrogate and clinical end points, although benefits seem to be the most substantial in patients with concomitant anemia. Erythropoietin-stimulating agents demonstrated early promise in retrospective analyses and small prospective trials, but their benefit was outweighed by a lack of improvement in clinical outcomes and an excess number of thromboembolic events in the largest trial of patients with anemia and HF to date. For acute symptomatic anemia, blood transfusion may be considered, although few trials have included patients with HF, and caution must be exerted in those who are hemodynamically unstable. Based on the currently available evidence, treatment of iron deficiency appears to confer benefit in patients with HF, whereas strategies aimed at improving hemoglobin alone do not. Included is a review of the pathophysiology of these conditions in the setting of HF, clinical trials evaluating pharmacologic therapy, and

  5. The first description of severe anemia associated with acute kidney injury and adult minimal change disease: a case report

    Directory of Open Access Journals (Sweden)

    Qian Yimei

    2009-01-01

    Full Text Available Abstract Introduction Acute kidney injury in the setting of adult minimal change disease is associated with proteinuria, hypertension and hyperlipidemia but anemia is usually absent. Renal biopsies exhibit foot process effacement as well as tubular interstitial inflammation, acute tubular necrosis or intratubular obstruction. We recently managed a patient with unique clinical and pathological features of minimal change disease, who presented with severe anemia and acute kidney injury, an association not previously reported in the literature. Case presentation A 60-year-old Indian-American woman with a history of hypertension and diabetes mellitus for 10 years presented with progressive oliguria over 2 days. Laboratory data revealed severe hyperkalemia, azotemia, heavy proteinuria and progressively worsening anemia. Urine eosinophils were not seen. Emergent hemodialysis, erythropoietin and blood transfusion were initiated. Serologic tests for hepatitis B, hepatitis C, anti-nuclear antibodies, anti-glomerular basement membrane antibodies and anti-neutrophil cytoplasmic antibodies were negative. Complement levels (C3, C4 and CH50 were normal. Renal biopsy unexpectedly displayed 100% foot process effacement. A 24-hour urine collection detected 6.38 g of protein. Proteinuria and anemia resolved during six weeks of steroid therapy. Renal function recovered completely. No signs of relapse were observed at 8-month follow-up. Conclusion Adult minimal change disease should be considered when a patient presents with proteinuria and severe acute kidney injury even when accompanied by severe anemia. This report adds to a growing body of literature suggesting that in addition to steroid therapy, prompt initiation of erythropoietin therapy may facilitate full recovery of renal function in acute kidney injury.

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

    Directory of Open Access Journals (Sweden)

    Cristina Salles

    2010-02-01

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

  7. Equine Infectious Anemia

    OpenAIRE

    Hoopes, Karl H.

    2017-01-01

    This fact sheet gives information on equine infectious anemia, a blood-borne infectious viral disease of horses, donkeys, and mules. It describes transmission, clinical disease, diagnosis and control.

  8. Renal Cell Protection of Erythropoietin beyond Correcting The Anemia in Chronic Kidney Disease Patients.

    Science.gov (United States)

    Nasri, Hamid

    2014-01-01

    Currently many patients with chronic renal failure have profited from the use of erythropoietin to correct anemia (1,2). In chronic kidney disease, anemia is believed to be a surrogate index for tissue hypoxia that continues preexisting renal tissue injury (1-3). Erythropoietin is an essential glycoprotein that accelerates red blood cell maturation from erythroid progenitors and facilitates erythropoiesis. It is a 30.4 kD glycoprotein and class I cytokine containing 165 amino acids (3,4). Approximately 90% of systemic erythropoietin in adults is produced by peritubular interstitial fibroblasts in the renal cortex and outer medulla of the kidney (3-5). A feedback mechanism involving oxygen delivery to the tissues seems to regulate erythropoietin production. Hypoxia-inducible factor regulates transcription of the erythropoietin gene in the kidney, which determines erythropoietin synthesis (3-5). Erythropoietin is an essential glycoprotein that accelerates red blood cell maturation from erythroid progenitors and mediates erythropoiesis in the bone marrow (4-6). Kidney fibrosis is the last common pathway in chronic renal failure irrespective of the initial etiology (5,6). Constant inflammatory cell infiltration and pericyte-myofibroblast transition lead to renal fibrosis and insufficiency which result in decreased production of erythropoietin (4-7). Thus far, therapeutic efforts to treat patients with chronic renal failure by administering erythropoietin have been made only to correct anemia and putative hypoxic tissue damage. The introduction of recombinant human erythropoietin has marked a significant advance in the management of anemia associated with chronic renal failure (6-9). With an increasing number of patients with chronic renal failure receiving erythropoietin treatment, emerging evidence suggests that erythropoietin not only has an erythropoietic function, but also has renoprotective potential. In fact, in recent years, the additional non

  9. APLASTIC ANEMIA

    Directory of Open Access Journals (Sweden)

    Ni Made Dharma Laksmi

    2013-07-01

    Full Text Available Normal 0 false false false EN-US X-NONE X-NONE MicrosoftInternetExplorer4 Aplastic Anemia describes a disorder of the clinical syndrome is marked by a deficiency of red blood cells, neutrophils, monocytes and platelets in the absence of other forms of bone marrow damage. Aplastic anemia is classified as a rare disease in developed countries the incidence of 3-6 cases / 1 million inhabitants / year. The exact cause of someone suffering from aplastic anemia also can not be established with certainty, but there are several sources of potential risk factors. Prognosis or course of the disease varies widely aplastic anemia, but without treatment generally gives a poor prognosis /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Table Normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-priority:99; mso-style-qformat:yes; mso-style-parent:""; mso-padding-alt:0in 5.4pt 0in 5.4pt; mso-para-margin:0in; mso-para-margin-bottom:.0001pt; mso-pagination:widow-orphan; font-size:11.0pt; font-family:"Calibri","sans-serif"; mso-ascii-font-family:Calibri; mso-ascii-theme-font:minor-latin; mso-fareast-font-family:"Times New Roman"; mso-fareast-theme-font:minor-fareast; mso-hansi-font-family:Calibri; mso-hansi-theme-font:minor-latin; mso-bidi-font-family:"Times New Roman"; mso-bidi-theme-font:minor-bidi;}

  10. An autosomal locus causing autoimmune disease: Autoimmune polyglandular disease type I assigned to chromosome 21

    NARCIS (Netherlands)

    J. Aaltonen (Johanna); P. Björses (Petra); L.A. Sandkuijl (Lodewijk); J. Perheentupa (Jaakko); L. Peltonen (Leena Johanna)

    1994-01-01

    textabstractAutoimmune polyglandular disease type I (APECED) is an autosomal recessive autoimmune disease characterized by a variable combination of the failure of the endocrine glands. The pathogenesis of this unique autoimmune disease is unknown; unlike many other autoimmune diseases, APECED does

  11. Living with Anemia

    Science.gov (United States)

    ... by an inherited or chronic disease or trauma. Anemia and Children/Teens Infants and young children have a greater ... birth-weight babies often are watched closely for anemia. Talk with your child's doctor if you're feeding your infant breast ...

  12. Aplastic Anemia and Myelodysplastic Syndromes

    Science.gov (United States)

    ... have aplastic anemia. Most new cases of aplastic anemia in children are due to inherited bone marrow failure syndromes. MDS are typically diagnosed between the ages of 70 and 80 years. Although a cause is not found in most cases of aplastic anemia and MDS, the diseases may be triggered by ...

  13. Genetic and physical analysis of a YAC contig spanning the fungal disease resistance locus Asc of tomato (Lycopersicon esculentum)

    NARCIS (Netherlands)

    Mesbah, L.A.; Kneppers, T.J.A.; Takken, F.L.W.; Laurent, P.; Hille, J.; Nijkamp, H.J.J.

    1998-01-01

    The Alternaria stem canker disease of tomato is caused by the necrotrophic fungal pathogen Alternaria alternata f. sp. lycopersici (AAL). The fungus produces AAL toxins that kill the plant tissue. Resistance to the fungus segregates as a single locus, called Asc, and has been genetically mapped on c

  14. Iron refractory iron deficiency anemia

    OpenAIRE

    De Falco, Luigia; Sanchez, Mayka; Silvestri, Laura; Kannengiesser, Caroline; Muckenthaler, Martina U; Iolascon, Achille; Gouya, Laurent; Camaschella, Clara; Beaumont, Carole

    2013-01-01

    Iron refractory iron deficiency anemia is a hereditary recessive anemia due to a defect in the TMPRSS6 gene encoding Matriptase-2. This protein is a transmembrane serine protease that plays an essential role in down-regulating hepcidin, the key regulator of iron homeostasis. Hallmarks of this disease are microcytic hypochromic anemia, low transferrin saturation and normal/high serum hepcidin values. The anemia appears in the post-natal period, although in some cases it is only diagnosed in ad...

  15. Information Needs of Cancer Patients and Perception of Impact of the Disease, of Self-Efficacy, and Locus of Control.

    Science.gov (United States)

    Keinki, C; Seilacher, E; Ebel, M; Ruetters, D; Kessler, I; Stellamanns, J; Rudolph, I; Huebner, J

    2016-09-01

    The aim of our study was to investigate the relationship between information needs and cancer patients' perceptions of the impact of the disease, self-efficacy, and locus of control. Using a standardized questionnaire, we obtained data from patients who attended a series of lectures. The questionnaire included questions on their information needs, sources of information, satisfaction with information, and short questionnaires on self-efficacy, perception of the disease, and locus of control of reinforcement. Data was obtained from 185 patients. Our results showed that the sources of information that were most often used were physicians (84 %), print media (68 %), and the Internet (59 %); online fora (7.5 %), non-medical practitioners (9.7 %), and telephone-based counseling (8.6 %) were only used by a minority. Patients with a high perception of their own control over the disease more often used any source of information available to them and were more often interested in acquiring additional information. Higher self-efficacy was significantly associated with the need for information on all topics. Patients with a higher external locus of control significantly more often used sources of information and had significantly more need for additional information. By contrast, there were no associations with an internal locus of control. Neither external nor internal locus of control showed any associations with satisfaction with information. Information needs seem to be higher in patients with a high external locus of control and low self-efficacy. Physicians, other professionals, and institutions that provide information may take these relationships into consideration for tailoring their services to patients.

  16. Genetic polymorphisms and cerebrovascular disease in children with sickle cell anemia from Rio de Janeiro, Brazil

    Directory of Open Access Journals (Sweden)

    Isaac Lima da Silva Filho

    2011-06-01

    Full Text Available The aim of the present work was to examine possible genetic risk factors related to the occurrence of cerebrovascular disease (CVD in Brazilian population, the frequency of βS-globin gene haplotypes and co-inheritance with α-thalassemia (-α3.7kb and single nucleotide polymorphism of methylenetetrahydrofolate reductase (MTHFR-C677T, Factor V Leiden (FV-G1691A and prothrombin (PT-G20210A genes in children from Rio de Janeiro. Ninety four children with sickle cell anemia (SCA were included, 24 patients with cerebrovascular involvement and 70 patients without CVD as control group. The mean age of children at the time of the cerebrovascular event was similar to the control group. The frequency of -α3.7kb thalassemia was similar in both groups (p=0.751. Children with Bantu/Atypical βS-globin gene haplotype presented 15 times more chance (OR=15.4 CI 95% 2.9-81.6 of CVD than the other βS-globin gene haplotypes. The C677T polymorphism of MTHFR gene was similar in both groups (p=0.085. No mutation in the FV Leiden or PT genes was found. A large study seems necessary to establish the role of these genetic polymorphisms in Brazilian miscegenated population.

  17. CLONING AND CHARACTERIZATION OF A METAL RESPONSIVE ELEMENT-CONTAINING FRAGMENT FROM THE WILSON DISEASE GENE LOCUS BY JUNCTION TRAPPING

    Institute of Scientific and Technical Information of China (English)

    谢久永; 刘国仰; 王梅; 黄尚志; 罗会元

    1998-01-01

    All mammalian metallothionaln genes studied to dare have several metal responsive elements (MRE) with consensus sequences of TGCRCNC (R, purlne) in their regulatory region. MRE-11ke sequeaees were also found in many other metal-related genes. To see whether there is also such a sequence at the genetic locus (13q14. 3) d Wilstm disease, which is a genetic disorder d copper metabolisa''n, junction-trapping method baaed on the MRE sequence was used. A fragment containing MRE and MRE-like sequences from YAC 27D8 at the WND locus was successfully cloned and mapped back to the YAC by PC, R, Presence of such a sequence in the copper transporter gene at the W''D locus might imply that it has a possible interesting role in the regulation of WD gene expression.

  18. Effects of chicken anemia virus and infectious bursal disease virus in commercial chickens.

    Science.gov (United States)

    Toro, H; van Santen, V L; Hoerr, F J; Breedlove, C

    2009-03-01

    The effects of chicken anemia virus (CAV) and infectious bursal disease virus (IBDV) coinfection in commercial layer-type and meat-type (broiler) chickens with specific maternal immunity were evaluated. In addition, the broiler progeny used had been vaccinated in ovo against IBDV. Layer chickens were inoculated intramuscularly on day 3 of age with CAV and orally on day 7 of age with an IBDV standard strain (APHIS). Broiler chickens were exposed to CAV and/or an IBDV variant strain (AL2) via the drinking water on days 3 and 14 of age. Following CAV and IBDV inoculation neither mortality nor overt clinical disease was observed in any layer or broiler group. In spite of maternal immunity against both IBDV and CAV, mean hematocrits of all layer groups inoculated with CAV (CAV, CAV + APHIS) were lower than uninfected chickens. IBDV APHIS alone or in combination with CAV did not affect the layer weight gain. However, on day 30 of age and concomitantly with maternal antibody decay, bursa lymphocyte depletion became evident in CAV + APHIS-infected layer chickens. These birds (CAV + APHIS) also seroconverted to IBDV on day 35 of age. CAV persisted at low levels in the layer chickens throughout the experimental period in CAV- and CAV+APHIS-infected chickens. Similarly, infected broiler chickens did not show changes in weight gain. Compared to CAV-infected or uninfected controls, CAV+AL2- and AL2-infected broiler chickens showed significant lymphocyte depletion in the bursa as assessed both by bursal indices and histomorphometry. Broilers also seroconverted to IBDV after day 30 of age confirming that bursal lymphocyte depletion was due to IBDV resuming replication. Thymus histomorphometry revealed significant lymphocyte depletion in all infected broiler groups at 30 days of age, but only in CAV+AL2-infected broiler chickens at 41 days of age, suggesting that IBDV infection delayed repopulation of the thymus.

  19. Hemolytic anemia following intravenous immunoglobulin therapy in patients treated for Kawasaki disease: a report of 4 cases

    Directory of Open Access Journals (Sweden)

    Berard Roberta

    2012-04-01

    Full Text Available Abstract Background Hemolytic anemia is a rare but reported side effect of intravenous immunoglobulin (IVIG therapy. The risk of significant hemolysis appears greater in those patients who receive high dose IVIG. The etiology is multifactorial but may relate to the quantity of blood group antibodies administered via the IVIG product. Findings We describe 4 patients with significant hemolytic anemia following treatment with IVIG for Kawasaki disease (KD. Direct antibody mediated attack as one of the mechanisms for hemolysis, in this population, is supported by the demonstration of specific blood group antibodies in addition to a positive direct antiglobulin test in our patients. Conclusions Clinicians should be aware of this complication and hemoglobin should be closely monitored following high dose IVIG therapy.

  20. Transferrin microheterogeneity in rheumatoid arthritis - Relation with disease activity and anemia of chronic disease

    NARCIS (Netherlands)

    R.A. Feelders (Richard); G. Vreugdenhil (Gerard); G. de Jong (G.); A.J.G. Swaak (Antonius); H.G. van Eijk (Henk)

    1992-01-01

    textabstractWe studied the relation between disease activity in rheumatoid arthritis (RA) and the microheterogeneity of transferrin. Using crossed immuno isoelectric focusing, transferrin microheterogeneity patterns were analyzed in sera of healthy individuals, nonanemic RA patients, iron deficient

  1. Pearson disease in an infant presenting with severe hypoplastic anemia, normal pancreatic function, and progressive liver failure.

    Science.gov (United States)

    Shapira, Adi; Konopnicki, Muriel; Hammad-Saied, Mohammed; Shabad, Evelyn

    2014-07-01

    Pearson disease is a rare, usually fatal, mitochondrial disorder affecting primarily the bone marrow and the exocrine pancreas. We report a previously healthy 10-week-old girl who presented with profound macrocytic anemia followed by pancytopenia, synthetic liver dysfunction with liver steatosis, and metabolic acidosis with high lactate levels. She had no pancreatic involvement. Multiple cytoplasmic vacuoles in myelocytes and monocytes were seen upon microscopic evaluation of the bone marrow. Genetic analysis of the mitochondrial genome revealed a 5 kbp deletion, thus establishing the diagnosis of Pearson disease.

  2. What Causes Aplastic Anemia?

    Science.gov (United States)

    ... blood and bone marrow diseases, such as aplastic anemia. // Non Object? Updated: August 22, 2012 Twitter Facebook YouTube Google+ SITE INDEX ACCESSIBILITY PRIVACY STATEMENT FOIA NO FEAR ACT OIG ...

  3. Living with Aplastic Anemia

    Science.gov (United States)

    ... blood and bone marrow diseases, such as aplastic anemia. // Non Object? Updated: August 22, 2012 Twitter Facebook YouTube Google+ SITE INDEX ACCESSIBILITY PRIVACY STATEMENT FOIA NO FEAR ACT OIG ...

  4. Treatment of anemia in heart failure: potential risks and benefits of intravenous iron therapy in cardiovascular disease.

    Science.gov (United States)

    Jelani, Qurat-ul-ain; Katz, Stuart D

    2010-01-01

    Iron-deficiency anemia is common in patients with heart failure (HF), but the optimum diagnostic tests to detect iron deficiency and the treatment options to replete iron have not been fully characterized. Recent studies in patients with HF indicate that intravenous iron can rapidly replenish iron stores in patients having iron-deficiency anemia, with resultant increased hemoglobin levels and improved functional capacity. Preliminary data from a subgroup analysis also suggest that supplemental intravenous iron therapy can improve functional capacity even in those subjects without anemia. The mechanisms responsible for this observation are not fully characterized, but may be related to beneficial effects of iron supplementation on mitochondrial respiration in skeletal muscle. The long-term safety of using intravenous iron supplementation in HF populations is not known. Iron is a known pro-oxidant factor that can inhibit nitric oxide signaling and irreversibly injury cells. Increased iron stores are associated with vascular endothelial dysfunction and increased risk of coronary heart disease events. Additional clinical trials are needed to more fully characterize the therapeutic potential and safety of intravenous iron in HF patients.

  5. Ceftriaxone-induced immune hemolytic anemia as a life-threatening complication of antibiotic treatment of 'chronic Lyme disease'.

    Science.gov (United States)

    De Wilde, Maarten; Speeckaert, Marijn; Callens, Rutger; Van Biesen, Wim

    2017-04-01

    'Chronic Lyme disease' is a controversial condition. As any hard evidence is lacking that unresolved systemic symptoms, following an appropriately diagnosed and treated Lyme disease, are related to a chronic infection with the tick-borne spirochaetes of the Borrelia genus, the term 'chronic Lyme disease' should be avoided and replaced by the term 'post-treatment Lyme disease syndrome.' The improper prescription of prolonged antibiotic treatments for these patients can have an impact on the community antimicrobial resistance and on the consumption of health care resources. Moreover, these treatments can be accompanied by severe complications. In this case report, we describe a life-threatening ceftriaxone-induced immune hemolytic anemia with an acute kidney injury (RIFLE-stadium F) due to a pigment-induced nephropathy in a 76-year-old woman, who was diagnosed with a so-called 'chronic Lyme disease.'

  6. Pentoxifylline for Anemia in Chronic Kidney Disease: A Systematic Review and Meta-Analysis.

    Directory of Open Access Journals (Sweden)

    Davide Bolignano

    Full Text Available Pentoxifylline (PTX is a promising therapeutic approach for reducing inflammation and improving anemia associated to various systemic disorders. However, whether this agent may be helpful for anemia management also in CKD patients is still object of debate.Systematic review and meta-analysis.Adults with CKD (any KDOQI stage, including ESKD patients on regular dialysis and anemia (Hb<13 g/dL in men or < 12 g/dL in women.Cochrane CENTRAL, EMBASE, Ovid-MEDLINE and PubMed were searched for studies providing data on the effects of PTX on anemia parameters in CKD patients without design or follow-up restriction.PTX derivatives at any dose regimen.Hemoglobin, hematocrit, ESAs dosage and resistance (ERI, iron indexes (ferritin, serum iron, TIBC, transferrin and serum hepcidin and adverse events.We retrieved 11 studies (377 patients including seven randomized controlled trials (all comparing PTX to placebo or standard therapy one retrospective case-control study and three prospective uncontrolled studies. Overall, PTX increased hemoglobin in three uncontrolled studies but such improvement was not confirmed in a meta-analysis of seven studies (299 patients (MD 0.12 g/dL, 95% CI -0.22 to 0.47. Similarly, there were no conclusive effects of PTX on hematocrit, ESAs dose, ferritin and TSAT in pooled analyses. Data on serum iron, ERI, TIBC and hepcidin were based on single studies. No evidence of increased rate of adverse events was also noticed.Small sample size and limited number of studies. High heterogeneity among studies with respect to CKD and anemia severity, duration of intervention and responsiveness/current therapy with iron or ESAs.There is currently no conclusive evidence supporting the utility of pentoxifylline for improving anemia control in CKD patients. Future trials designed on hard, patient-centered outcomes with larger sample size and longer follow-up are advocated.

  7. Aplastic Anemia

    Science.gov (United States)

    Aplastic anemia is a rare but serious blood disorder. If you have it, your bone marrow doesn't make ... blood cells. There are different types, including Fanconi anemia. Causes include Toxic substances, such as pesticides, arsenic, ...

  8. CUBN as a novel locus for end-stage renal disease: insights from renal transplantation.

    Directory of Open Access Journals (Sweden)

    Anna Reznichenko

    Full Text Available Chronic kidney disease (CKD is a complex disorder. As genome-wide association studies identified cubilin gene CUBN as a locus for albuminuria, and urinary protein loss is a risk factor for progressive CKD, we tested the hypothesis that common genetic variants in CUBN are associated with end-stage renal disease (ESRD and proteinuria. First, a total of 1142 patients with ESRD, admitted for renal transplantation, and 1186 donors were genotyped for SNPs rs7918972 and rs1801239 (case-control study. The rs7918972 minor allele frequency (MAF was higher in ESRD patients comparing to kidney donors, implicating an increased risk for ESRD (OR 1.39, p = 0.0004 in native kidneys. Second, after transplantation recipients were followed for 5.8 [3.8-9.2] years (longitudinal study documenting ESRD in transplanted kidneys--graft failure (GF. During post-transplant follow-up 92 (9.6% cases of death-censored GF occurred. Donor rs7918972 MAF, representing genotype of the transplanted kidney, was 16.3% in GF vs 10.7% in cases with functioning graft. Consistently, a multivariate Cox regression analysis showed that donor rs7918972 is a predictor of GF, although statistical significance was not reached (HR 1.53, p = 0.055. There was no association of recipient rs7918972 with GF. Rs1801239 was not associated with ESRD or GF. In line with an association with the outcome, donor rs7918972 was associated with elevated proteinuria levels cross-sectionally at 1 year after transplantation. Thus, we identified CUBN rs7918972 as a novel risk variant for renal function loss in two independent settings: ESRD in native kidneys and GF in transplanted kidneys.

  9. Structural study of the microtubule-associated protein tau locus of Alzheimer's disease in Taiwan

    Directory of Open Access Journals (Sweden)

    Chun-Wei Chang

    2014-06-01

    Full Text Available Background: Haplotype structure of the microtubule-associated protein tau (MAPT gene is associated with various tauopathies in the Caucasian population. With the knowledge that the association between MAPT structure and disease may be distinct in different ethnics, we intend to investigate the haplotype structure of MAPT in Taiwanese and test it for association with Alzheimer's disease (AD. Methods: One hundred and eight AD patients and 108 sex- and-age matched healthy controls were recruited from the dementia outpatient clinic of Chang Gung Medical center. We genotyped the del-In9 marker that defines the extended H1 and H2 clades. We selected 21 single-nucleotide polymorphisms (SNPs in the extended MAPT region from Japanese SNPs database and dbSNP database. Using the software TagIt, we analyzed the linkage disequilibrium structure of MAPT and compared the allele and genotype distribution between patient group and control group. Results: All the Taiwanese participants were H1 haplotypes. Linkage disequilibrium analysis showed the haplotype blocks in Taiwanese population had a smaller size in comparison to that of the Caucasian population. Single locus association showed significant p value in one of the tagging variants (rs242557 in our Taiwanese AD case-control cohorts. Conclusion: MAPT gene has four haplotype blocks in the Taiwanese population, each of around 40 kbp. In both European study and our study, the SNP rs242557 showed association with AD. Given the position of this SNP, the most possible explanation is that genetic variability in tau expression contributes to the risk of developing AD.

  10. Avian anemia's

    Directory of Open Access Journals (Sweden)

    Raukar Jelena

    2005-01-01

    Full Text Available This paper deals with avian anemia's classified by MCHC/MCV and with types of anemia's. Father hematological and immunological research is needed to secure information on hematological parameters in different avian species at their earliest age. Anemia is a common clinical finding in birds because the avian erythrocyte half - life is much shorter than the mammalian. Therefore anemia should be determined as soon as possible. Researchers should standardize hematological parameters for every single avian species.

  11. Prevalence and determinants of anemia in adults with complex congenital heart disease and ventricular dysfunction (subaortic right ventricle and single ventricle physiology).

    Science.gov (United States)

    Collins, Nicholas; Piran, Sanaz; Harrison, Jeanine; Azevedo, Eduardo; Oechslin, Erwin; Silversides, Candice K

    2008-09-01

    Anemia is well recognized as a marker of poor prognosis in patients with acquired heart disease and heart failure. Adults with complex congenital heart disease and ventricular dysfunction (subaortic right ventricle or single-ventricle physiology) represent a different population, because they are typically much younger and have less co-morbidity compared with patients with acquired forms of heart disease. The purpose of this study was to evaluate the prevalence and determinants of anemia in this population. Baseline hemoglobin levels were recorded at the time of the initial clinic visit, and final hemoglobin levels were those recorded before death or transplantation or at study completion. Anemia was defined as hemoglobin complex congenital heart disease and ventricular dysfunction, in particular those with Fontan physiology.

  12. Prevalence of anemia and its impact on mortality in patients with acute exacerbation of chronic obstructive pulmonary disease in a developing country setting.

    Science.gov (United States)

    Rahimi-Rad, Mohammad Hossein; Sadighi, Tannaz; Rabieepour, Masomeh; Dinparast, Reza; RahimiRad, Shagayegh

    2015-01-01

    Chronic Obstructive Pulmonary Disease (COPD) is going to be the third most common cause of death worldwide. The natural course of COPD is interrupted by acute exacerbations (AECOPD) with an overall mortality rate of 10%. Anemia is a well-known independent predictor of mortality in several chronic diseases. Little is known about the impact of anemia on mortality in AECOPD. The aims of this study were to determine the prevalence of anemia in AECOPD patients and its impact on mortality in a developing country setting. We retrospectively studied 200 hospitalized patients with AECOPD (100 died in hospital and 100 survived) in Imam Khomeini teaching hospital, Urmia, Iran. Prevalence of anemia between deceased and surviving patients compared by using x-square test. Mean admission day Hb and Hct level were compared between the two groups by using Student t-test. Anemia was defined according to WHO criteria: Hbanemia was significantly higher in patients who died in hospital compared to those who survived (72% vs. 49%, p=0.001 and OR=2.68). The mean ±SD Hb level was 11.5±2.7 g/dl among deceased patients vs. 13.0±2.0 g/dl among survivors (p valueAnemia was common in AECOPD patients in this developing country setting and was significantly associated with in hospital mortality.

  13. Severity of Anemia Predicts Hospital Length of Stay but Not Readmission in Patients with Chronic Kidney Disease: A Retrospective Cohort Study.

    Science.gov (United States)

    Garlo, Katherine; Williams, Deanna; Lucas, Lee; Wong, Rocket; Botler, Joel; Abramson, Stuart; Parker, Mark G

    2015-06-01

    The aim of this study was to examine the relationship of severe anemia to hospital readmission and length of stay (LOS) in patients with chronic kidney disease (CKD) stage 3-5. Compared with the general population, patients with moderate CKD have a higher hospital readmission rate and LOS. Anemia in patients with moderate CKD is associated with higher morbidity and mortality. The influence of anemia on hospital outcomes in patients with moderate CKD has not been characterized.We conducted a retrospective cohort study at Maine Medical Center, a 606-bed academic tertiary care hospital. Patients with CKD stages 3-5 and not on dialysis admitted during February 2013 to January 2014 were eligible. Patients with end stage renal disease on hemodialysis or peritoneal dialysis, kidney transplant, acute kidney injury, gastrointestinal bleeding, active malignancy, pregnancy, and surgery were excluded. The cohort was split into severe anemia (hemoglobin ≤9  g/dL) versus a comparison group (hemoglobin >9 g /dL), and examined for differences in 30-day hospital readmission and LOS.In this study, the data of 1141 patients were included, out of which 156 (13.7%) had severe anemia (mean hemoglobin 8.1 g/dL, SD 0.8). Severe anemia was associated with increased hospital LOS (mean 6.4 (SD 6.0) days vs mean 4.5 (SD 4.0) days, P anemia are at risk for increased hospital LOS. Interventions targeting this high-risk population, including outpatient management of anemia, may benefit patient care and save costs through improved hospital outcomes.

  14. The rs1990760 polymorphism within the IFIH1 locus is not associated with Graves' disease, Hashimoto's thyroiditis and Addison's disease

    Directory of Open Access Journals (Sweden)

    Seidl Christian

    2009-12-01

    Full Text Available Abstract Background Three genes have been confirmed as major joint susceptibility genes for endocrine autoimmune disease:human leukocyte antigen class II, cytotoxic T-lymphocyte antigen 4 and protein tyrosine phosphatase non-receptor type 22. Recent studies showed that a genetic variation within the interferon induced helicase domain 1 (IFIH1 locus (rs1990760 polymorphism is an additional risk factor in type 1 diabetes and Graves' disease (GD. Methods The aim of the present study was to investigate the role of the rs1990760 polymorphism within the IFIH1 gene in German patients with GD (n = 258, Hashimoto's thyroiditis (HT, n = 106, Addison's disease (AD, n = 195 and healthy controls (HC, n = 227 as well as in 55 GD families (165 individuals, German and 100 HT families (300 individuals, Italian. Furthermore, the interaction between rs1990760 polymorphism with human leukocyte antigen (HLA risk haplotype DQ2(DQA*0501-DQB*0201, the risk haplotypes DQ2/DQ8 (DQA*0301-DQB*0302 and the status of thyroglobulin antibody (TgAb, thyroid peroxidase antibody (TPOAb and TSH receptor antibody (TRAb in patients and families were analysed. Results No significant differences were found between the allele and genotype frequencies for rs1990760 IFIH1 polymorphism in patients with GD, HT, AD and HC. Also no differences were observed when stratifying the IFIH1 rs1990760 polymorphism for gender, presence or absence of thyroid antibodies (GD:TRAb and HT:TPOAb/TgAb and HLA risk haplotypes (DQ2:for GD and HT, DQ2/DQ8:for AD. Furthermore the transmission analysis in GD and HT families revealed no differences in alleles transmission for rs1990760 IFIH1 from parents with or without HLA risk haplotype DQ2 to the affected offspring. In contrast, by dividing the HT parents according to the presence or absence of thyroid Ab titers, mothers and fathers both positive for TPOAb/TgAb overtransmitted the allele A of IFIH1 rs1990760 to their HT affected offspring (61.8% vs 38.2%;p = 0

  15. Hepcidin as a predictive factor and therapeutic target in erythropoiesis-stimulating agent treatment for anemia of chronic disease in rats.

    Science.gov (United States)

    Theurl, Milan; Nairz, Manfred; Schroll, Andrea; Sonnweber, Thomas; Asshoff, Malte; Haschka, David; Seifert, Markus; Willenbacher, Wolfgang; Wilflingseder, Doris; Posch, Wilfried; Murphy, Anthony T; Witcher, Derrick R; Theurl, Igor; Weiss, Günter

    2014-09-01

    Anemia of chronic disease is a multifactorial disorder, resulting mainly from inflammation-driven reticuloendothelial iron retention, impaired erythropoiesis, and reduced biological activity of erythropoietin. Erythropoiesis-stimulating agents have been used for the treatment of anemia of chronic disease, although with varying response rates and potential adverse effects. Serum concentrations of hepcidin, a key regulator of iron homeostasis, are increased in patients with anemia of chronic disease and linked to the pathogenesis of this disease, because hepcidin blocks cellular iron egress, thus limiting availability of iron for erythropoiesis. We tested whether serum hepcidin levels can predict and affect the therapeutic efficacy of erythropoiesis-stimulating agent treatment using a well-established rat model of anemia of chronic disease. We found that high pre-treatment hepcidin levels correlated with an impaired hematologic response to an erythropoiesis-stimulating agent in rats with anemia of chronic disease. Combined treatment with an erythropoiesis-stimulating agent and an inhibitor of hepcidin expression, LDN-193189, significantly reduced serum hepcidin levels, mobilized iron from tissue stores, increased serum iron levels and improved hemoglobin levels more effectively than did the erythropoiesis-stimulating agent or LDN-193189 monotherapy. In parallel, both the erythropoiesis-stimulating agent and erythropoiesis-stimulating agent/LDN-193189 combined reduced the expression of cytokines known to inhibit erythropoiesis. We conclude that serum hepcidin levels can predict the hematologic responsiveness to erythropoiesis-stimulating agent therapy in anemia of chronic disease. Pharmacological inhibition of hepcidin formation improves the erythropoiesis-stimulating agent's therapeutic efficacy, which may favor a reduction of erythropoiesis-stimulating agent dosages, costs and side effects.

  16. Evaluation of anemia in children.

    Science.gov (United States)

    Janus, Jennifer; Moerschel, Sarah K

    2010-06-15

    Anemia is defined as a hemoglobin level of less than the 5th percentile for age. Causes vary by age. Most children with anemia are asymptomatic, and the condition is detected on screening laboratory evaluation. Screening is recommended only for high-risk children. Anemia is classified as microcytic, normocytic, or macrocytic, based on the mean corpuscular volume. Mild microcytic anemia may be treated presumptively with oral iron therapy in children six to 36 months of age who have risk factors for iron deficiency anemia. If the anemia is severe or is unresponsive to iron therapy, the patient should be evaluated for gastrointestinal blood loss. Other tests used in the evaluation of microcytic anemia include serum iron studies, lead levels, and hemoglobin electrophoresis. Normocytic anemia may be caused by chronic disease, hemolysis, or bone marrow disorders. Workup of normocytic anemia is based on bone marrow function as determined by the reticulocyte count. If the reticulocyte count is elevated, the patient should be evaluated for blood loss or hemolysis. A low reticulocyte count suggests aplasia or a bone marrow disorder. Common tests used in the evaluation of macrocytic anemias include vitamin B12 and folate levels, and thyroid function testing. A peripheral smear can provide additional information in patients with anemia of any morphology.

  17. Sickle cell anemia

    Science.gov (United States)

    ... Anemia - sickle cell; Hemoglobin SS disease (Hb SS); Sickle cell disease Images Red blood cells, sickle cell Red blood cells, normal Red blood ... multiple sickle cells Red blood cells, sickle cells Red blood cells, sickle and ... Heeney MM, Ware RE. Sickle cell disease. In: Orkin SH, Fisher DE, Ginsburg D, Look ...

  18. Bone marrow mesenchymal stem cells from patients with aplastic anemia maintain functional and immune properties and do not contribute to the pathogenesis of the disease.

    Science.gov (United States)

    Bueno, Clara; Roldan, Mar; Anguita, Eduardo; Romero-Moya, Damia; Martín-Antonio, Beatriz; Rosu-Myles, Michael; del Cañizo, Consuelo; Campos, Francisco; García, Regina; Gómez-Casares, Maite; Fuster, Jose Luis; Jurado, Manuel; Delgado, Mario; Menendez, Pablo

    2014-07-01

    Aplastic anemia is a life-threatening bone marrow failure disorder characterized by peripheral pancytopenia and marrow hypoplasia. The majority of cases of aplastic anemia remain idiopathic, although hematopoietic stem cell deficiency and impaired immune responses are hallmarks underlying the bone marrow failure in this condition. Mesenchymal stem/stromal cells constitute an essential component of the bone marrow hematopoietic microenvironment because of their immunomodulatory properties and their ability to support hematopoiesis, and they have been involved in the pathogenesis of several hematologic malignancies. We investigated whether bone marrow mesenchymal stem cells contribute, directly or indirectly, to the pathogenesis of aplastic anemia. We found that mesenchymal stem cell cultures can be established from the bone marrow of aplastic anemia patients and display the same phenotype and differentiation potential as their counterparts from normal bone marrow. Mesenchymal stem cells from aplastic anemia patients support the in vitro homeostasis and the in vivo repopulating function of CD34(+) cells, and maintain their immunosuppressive and anti-inflammatory properties. These data demonstrate that bone marrow mesenchymal stem cells from patients with aplastic anemia do not have impaired functional and immunological properties, suggesting that they do not contribute to the pathogenesis of the disease.

  19. Lessons learned from peginesatide in the treatment of anemia associated with chronic kidney disease in patients on dialysis

    Directory of Open Access Journals (Sweden)

    Kaushik T

    2013-11-01

    Full Text Available Tarun Kaushik, Muhammad Magdi YaqoobBarts Health NHS Trust, William Harvey Research Unit, London, UKAbstract: Peginesatide is the newest erythropoietin-stimulating agent (ESA in the quest for the ideal treatment of anemia in chronic kidney disease (CKD patients. Reduced frequency of administration along with a possibly lower cost as a result of simpler manufacturing techniques compared with other available agents makes peginesatide a highly desirable product in the competitive ESA market. Peginesatide is noninferior to the other ESAs, and has a good safety profile in patients on hemodialysis. The higher rates of adverse cardiovascular events reported in CKD patients not on dialysis in the recent Phase III studies require further, better planned, studies. Peginesatide had to be withdrawn from the market in the US after some reports of hypersensitivity reactions to the drug. This is a setback, but the scientific advances gained as a result of this product development can be used to develop other, newer products.Keywords: anemia, hemodialysis, chronic kidney disease, peginesatide

  20. Serodiagnosis of celiac disease in children referred for evaluation of anemia: A pediatric hematology unit′s experience

    Directory of Open Access Journals (Sweden)

    Deepak Bansal

    2011-01-01

    Full Text Available Background: Children presenting with typical clinical features of celiac disease (CD are diagnosed relatively easily, however, diagnosis remains challenging and is often delayed when they present with ′difficult to treat anemia′ without overt gastrointestinal manifestations. Index study was undertaken to report profile of patients referred to pediatric hematology unit with ′difficult anemia′ who subsequently were diagnosed with CD. Materials and Methods: The records of 83 patients (1988-2008 with CD were scrutinized retrospectively who had presented with predominant hematological manifestations. Results: CD was confirmed histologically in 31 (37%, while 52 (63% were diagnosed by serology alone. The mean age at diagnosis was 8.0 ± 2.8 years. The mean duration of symptom-diagnosis interval was 40.9 ± 30.6 months. Eighty-one (98% children had anemia (Hb < 11 g/dl and 55 (66% had received iron supplements without discernible benefit. Thirty-nine (47% patients received a blood transfusion. Thirty-six (43% patients did not have diarrhea. Majority of the patients had either a microcytic-hypochromic (48% or dimorphic (43% anemia. Twenty-four (33% had thrombocytosis, while 5 (7% had thrombocytopenia. Mean duration of follow-up for patients on roll in the clinic for more than six months was 17.7 ± 20.9 months. Conclusion: Pediatricians and hematologists need to be aware of the extra-intestinal manifestations of CD. Prolonged duration of symptoms and a diagnosis at a relatively older age is striking in children presenting with predominantly hematological manifestations. Investigations for CD are recommended in children presenting with iron deficiency anemia refractory to hematinics or who have coexisting growth retardation. Necessity for biopsy in overtly symptomatic cases is discussed.

  1. Ferumoxytol: a silver lining in the treatment of anemia of chronic kidney disease or another dark cloud?

    Directory of Open Access Journals (Sweden)

    Barton Pai A

    2012-08-01

    Full Text Available Amy Barton Pai, Adinoyi O GarbaAlbany College of Pharmacy and Health Sciences, Albany, New York, NY, USAAbstract: Intravenous iron therapy is pivotal in the treatment of anemia of chronic kidney disease to optimize the response of hemoglobin to erythropoiesis-stimulating agents. Intravenous iron use in patients with chronic kidney disease is on the rise. Recent clinical trial data prompting safety concerns regarding the use of erythropoiesis-stimulating agents has stimulated new US Food and Drug Administration label changes and restrictions for these agents, and has encouraged more aggressive use of intravenous iron. The currently available intravenous iron products differ with regard to the stability of the iron-carbohydrate complex and potential to induce hypersensitivity reactions. Ferumoxytol is a newer large molecular weight intravenous iron formulation that is a colloidal iron oxide nanoparticle suspension coated with polyglucose sorbitol carboxymethyl ether. Ferumoxytol has robust iron-carbohydrate complex stability with minimal dissociation or appearance of free iron in the serum, allowing the drug to be given in relatively large doses with a rapid rate of administration. Clinical trials have demonstrated the superior efficacy of ferumoxytol versus oral iron with minimal adverse effects. However, recent postmarketing data have demonstrated a risk of hypersensitivity that has prompted new changes to the product information mandated by the Food and Drug Administration. Additionally, the long-term safety of this agent has not been evaluated, and its place in the treatment of anemia of chronic kidney disease has not been fully elucidated.Keywords: iron, ferumoxytol, oxidative stress, safety, kidney disease

  2. Pregnancy Complications: Anemia

    Science.gov (United States)

    ... Close X Home > Complications & Loss > Pregnancy complications > Anemia Anemia E-mail to a friend Please fill in ... anemia at a prenatal care visit . What causes anemia? Usually, a woman becomes anemic (has anemia) because ...

  3. Association of Increased Serum Leptin with Ameliorated Anemia and Malnutrition in Stage 5 Chronic Kidney Disease Patients after Parathyroidectomy.

    Science.gov (United States)

    Jiang, Yao; Zhang, Jingjing; Yuan, Yanggang; Zha, Xiaoming; Xing, Changying; Shen, Chong; Shen, Zhixiang; Qin, Chao; Zeng, Ming; Yang, Guang; Mao, Huijuan; Zhang, Bo; Yu, Xiangbao; Sun, Bin; Ouyang, Chun; Xu, Xueqiang; Ge, Yifei; Wang, Jing; Zhang, Lina; Cheng, Chen; Yin, Caixia; Zhang, Jing; Chen, Huimin; Ma, Haoyang; Wang, Ningning

    2016-06-16

    Leptin is an adipokine that regulates various metabolism, but its association with secondary hyperparathyroidism (SHPT), a clinical manifestation of chronic kidney disease-mineral and bone disorder (CKD-MBD), remains obscure. Parathyroidectomy (PTX) is recommended for severe SHPT patients. Here, the associations between circulating leptin and clinical characteristics in CKD patients were investigated. Effects of PTX on leptin production were analyzed in vivo and in vitro. Controls and CKD patients had approximate serum leptin levels in that a larger proportion of CKD patients with body mass index (BMI) leptin was related to anemia, albumin, and bone metabolism disorders in CKD patients. Lower intact parathyroid hormone (PTH) was related with higher leptin in PTX patients group. Severe SHPT inhibited uremia-enhanced leptin production in 3T3-L1 adipocytes, which was attenuated after PTX. High levels of PTH were found to reduce Akt phosphorylation and leptin production in vitro but high levels of calcium and phosphorus were not. Successful PTX was found to improve anemia and malnutrition in severe SHPT patients, and this was correlated with increased circulating leptin levels via up-regulated Akt signaling in adipocytes. These findings indicated the therapeutic potential of leptin and related target pathway for improving survival and quality of life in CKD.

  4. Ferumoxytol: a new intravenous iron preparation for the treatment of iron deficiency anemia in patients with chronic kidney disease.

    Science.gov (United States)

    Schwenk, Michael H

    2010-01-01

    Ferumoxytol is an intravenous iron preparation for treatment of the anemia of chronic kidney disease (CKD). It is a carbohydrate-coated, superparamagnetic iron oxide nanoparticle. Because little free iron is present in the preparation, doses of 510 mg have been administered safely in as little as 17 seconds. Two prospective, randomized studies compared two doses of ferumoxytol 510 mg given in 5 +/- 3 days with 3 weeks of oral iron 200 mg/day (as ferrous fumarate) in anemic patients with CKD. One study enrolled 304 patients with stages 1-5 CKD (predialysis), and the other study enrolled 230 patients with stage 5D CKD (undergoing hemodialysis). In both studies, a greater increase in hemoglobin level from baseline to end of study (day 35) was noted in patients who received ferumoxytol compared with those who received oral iron (mean +/- SD 0.82 +/- 1.24 vs 0.16 +/- 1.02 g/dl in patients with stages 1-5 CKD and 1.02 +/- 1.13 vs 0.46 +/- 1.06 g/dl in patients with stage 5D CKD, piron (piron therapy in increasing hemoglobin levels in anemic patients with CKD. Long-term clinical trials with clinical outcomes and studies comparing ferumoxytol with other parenteral iron agents will help define the role of ferumoxytol in treating the anemia of CKD.

  5. Artificial intelligence for optimal anemia management in end-stage renal disease.

    Science.gov (United States)

    Brier, Michael E; Gaweda, Adam E

    2016-08-01

    Computational intelligence for the prediction of hemoglobin to guide the selection of erythropoiesis-stimulating agent dose results in improved anemia management. The models used for the prediction result from the use of individual patient data and help to increase the number of hemoglobin observations within the target range. The benefits of using these modeling techniques appear to be a decrease in erythropoiesis-stimulating agent use and a decrease in the number of transfusions. This study confirms the results of previous smaller studies and suggests that additional beneficial results may be achieved.

  6. The human intrinsic factor-vitamin B12 receptor, cubilin: molecular characterization and chromosomal mapping of the gene to 10p within the autosomal recessive megaloblastic anemia (MGA1) region

    DEFF Research Database (Denmark)

    Kozyraki, R; Kristiansen, M; Silahtaroglu, A

    1998-01-01

    -5445 on the short arm of chromosome 10. This is within the autosomal recessive megaloblastic anemia (MGA1) 6-cM region harboring the unknown recessive-gene locus of juvenile megaloblastic anemia caused by intestinal malabsorption of cobalamin (Imerslund-Gräsbeck's disease). In conclusion, the present...... molecular and genetic information on human cubilin now provides circumstantial evidence that an impaired synthesis, processing, or ligand binding of cubilin is the molecular background of this hereditary form of megaloblastic anemia. Udgivelsesdato: 1998-May-15...

  7. Lack of hepcidin ameliorates anemia and improves growth in an adenine-induced mouse model of chronic kidney disease.

    Science.gov (United States)

    Akchurin, Oleh; Sureshbabu, Angara; Doty, Steve B; Zhu, Yuan-Shan; Patino, Edwin; Cunningham-Rundles, Susanna; Choi, Mary E; Boskey, Adele; Rivella, Stefano

    2016-11-01

    Growth delay is common in children with chronic kidney disease (CKD), often associated with poor quality of life. The role of anemia in uremic growth delay is poorly understood. Here we describe an induction of uremic growth retardation by a 0.2% adenine diet in wild-type (WT) and hepcidin gene (Hamp) knockout (KO) mice, compared with their respective littermates fed a regular diet. Experiments were started at weaning (3 wk). After 8 wk, blood was collected and mice were euthanized. Adenine-fed WT mice developed CKD (blood urea nitrogen 82.8 ± 11.6 mg/dl and creatinine 0.57 ± 0.07 mg/dl) and were 2.1 cm shorter compared with WT controls. WT adenine-fed mice were anemic and had low serum iron, elevated Hamp, and elevated IL6 and TNF-α. WT adenine-fed mice had advanced mineral bone disease (serum phosphorus 16.9 ± 3.1 mg/dl and FGF23 204.0 ± 115.0 ng/ml) with loss of cortical and trabecular bone volume seen on microcomputed tomography. Hamp disruption rescued the anemia phenotype resulting in improved growth rate in mice with CKD, thus providing direct experimental evidence of the relationship between Hamp pathway and growth impairment in CKD. Hamp disruption ameliorated CKD-induced growth hormone-insulin-like growth factor 1 axis derangements and growth plate alterations. Disruption of Hamp did not mitigate the development of uremia, inflammation, and mineral and bone disease in this model. Taken together, these results indicate that an adenine diet can be successfully used to study growth in mice with CKD. Hepcidin appears to be related to pathways of growth retardation in CKD suggesting that investigation of hepcidin-lowering therapies in juvenile CKD is warranted.

  8. Iron deficiency anemia in pregnancy.

    Science.gov (United States)

    Di Renzo, Gian Carlo; Spano, Filippo; Giardina, Irene; Brillo, Eleonora; Clerici, Graziano; Roura, Luis Cabero

    2015-11-01

    Anemia is the most frequent derailment of physiology in the world throughout the life of a woman. It is a serious condition in countries that are industrialized and in countries with poor resources. The main purpose of this manuscript is to give the right concern of anemia in pregnancy. The most common causes of anemia are poor nutrition, iron deficiencies, micronutrients deficiencies including folic acid, vitamin A and vitamin B12, diseases like malaria, hookworm infestation and schistosomiasis, HIV infection and genetically inherited hemoglobinopathies such as thalassemia. Depending on the severity and duration of anemia and the stage of gestation, there could be different adverse effects including low birth weight and preterm delivery. Treatment of mild anemia prevents more severe forms of anemia, strictly associated with increased risk of fetal-maternal mortality and morbidity.

  9. A NOVEL ALZHEIMER DISEASE LOCUS LOCATED NEAR THE GENE ENCODING TAU PROTEIN

    Science.gov (United States)

    Jun, Gyungah; Ibrahim-Verbaas, Carla A.; Vronskaya, Maria; Lambert, Jean-Charles; Chung, Jaeyoon; Naj, Adam C.; Kunkle, Brian W.; Wang, Li-San; Bis, Joshua C.; Bellenguez, Céline; Harold, Denise; Lunetta, Kathryn L.; Destefano, Anita L.; Grenier-Boley, Benjamin; Sims, Rebecca; Beecham, Gary W.; Smith, Albert V.; Chouraki, Vincent; Hamilton-Nelson, Kara L.; Ikram, M. Arfan; Fievet, Nathalie; Denning, Nicola; Martin, Eden R.; Schmidt, Helena; Kamatani, Yochiro; Dunstan, Melanie L; Valladares, Otto; Laza, Agustin Ruiz; Zelenika, Diana; Ramirez, Alfredo; Foroud, Tatiana M.; Choi, Seung-Hoan; Boland, Anne; Becker, Tim; Kukull, Walter A.; van der Lee, Sven J.; Pasquier, Florence; Cruchaga, Carlos; Beekly, Duane; Fitzpatrick, Annette L.; Hanon, Oliver; Gill, Michael; Barber, Robert; Gudnason, Vilmundur; Campion, Dominique; Love, Seth; Bennett, David A.; Amin, Najaf; Berr, Claudine; Tsolaki, Magda; Buxbaum, Joseph D.; Lopez, Oscar L.; Deramecourt, Vincent; Fox, Nick C; Cantwell, Laura B.; Tárraga, Lluis; Dufouil, Carole; Hardy, John; Crane, Paul K.; Eiriksdottir, Gudny; Hannequin, Didier; Clarke, Robert; Evans, Denis; Mosley, Thomas H.; Letenneur, Luc; Brayne, Carol; Maier, Wolfgang; De Jager, Philip; Emilsson, Valur; Dartigues, Jean-François; Hampel, Harald; Kamboh, M. Ilyas; de Bruijn, Renee F.A.G.; Tzourio, Christophe; Pastor, Pau; Larson, Eric B.; Rotter, Jerome I.; O’Donovan, Michael C; Montine, Thomas J.; Nalls, Michael A.; Mead, Simon; Reiman, Eric M.; Jonsson, Palmi V.; Holmes, Clive; St George-Hyslop, Peter H.; Boada, Mercè; Passmore, Peter; Wendland, Jens R.; Schmidt, Reinhold; Morgan, Kevin; Winslow, Ashley R.; Powell, John F; Carasquillo, Minerva; Younkin, Steven G.; Jakobsdóttir, Jóhanna; Kauwe, John SK; Wilhelmsen, Kirk C.; Rujescu, Dan; Nöthen, Markus M; Hofman, Albert; Jones, Lesley; Haines, Jonathan L.; Psaty, Bruce M.; Van Broeckhoven, Christine; Holmans, Peter; Launer, Lenore J.; Mayeux, Richard; Lathrop, Mark; Goate, Alison M.; Escott-Price, Valentina; Seshadri, Sudha; Pericak-Vance, Margaret A.; Amouyel, Philippe; Williams, Julie; van Duijn, Cornelia M.; Schellenberg, Gerard D.; Farrer, Lindsay A.

    2015-01-01

    APOE ε4, the most significant genetic risk factor for Alzheimer disease (AD), may mask effects of other loci. We re-analyzed genome-wide association study (GWAS) data from the International Genomics of Alzheimer’s Project (IGAP) Consortium in APOE ε4+ (10,352 cases and 9,207 controls) and APOE ε4− (7,184 cases and 26,968 controls) subgroups as well as in the total sample testing for interaction between a SNP and APOE ε4 status. Suggestive associations (P<1x10−4) in stage 1 were evaluated in an independent sample (stage 2) containing 4,203 subjects (APOE ε4+: 1,250 cases and 536 controls; APOE ε4-: 718 cases and 1,699 controls). Among APOE ε4− subjects, novel genome-wide significant (GWS) association was observed with 17 SNPs (all between KANSL1 and LRRC37A on chromosome 17 near MAPT) in a meta-analysis of the stage 1 and stage 2 datasets (best SNP, rs2732703, P=5·8x10−9). Conditional analysis revealed that rs2732703 accounted for association signals in the entire 100 kilobase region that includes MAPT. Except for previously identified AD loci showing stronger association in APOE ε4+ subjects (CR1 and CLU) or APOE ε4− subjects (MS4A6A/MS4A4A/ MS4A6E), no other SNPs were significantly associated with AD in a specific APOE genotype subgroup. In addition, the finding in the stage 1 sample that AD risk is significantly influenced by the interaction of APOE with rs1595014 in TMEM106B (P=1·6x10−7) is noteworthy because TMEM106B variants have previously been associated with risk of frontotemporal dementia. Expression quantitative trait locus analysis revealed that rs113986870, one of the GWS SNPs near rs2732703, is significantly associated with four KANSL1 probes that target transcription of the first translated exon and an untranslated exon in hippocampus (P≤1.3x10−8), frontal cortex (P≤1.3x10−9), and temporal cortex (P≤1.2x10−11). Rs113986870 is also strongly associated with a MAPT probe that targets transcription of alternatively

  10. Assessment and comparison of anemia of chronic disease in healthy subjects and chronic periodontitis patients: A clinical and hematological study

    Directory of Open Access Journals (Sweden)

    Rajashri A Kolte

    2014-01-01

    Full Text Available Background: Bacteremia is associated with periodontal diseases whose extent is related to the severity of inflammation in periodontal tissues. The purpose of this study was to assess and compare the various blood parameters in healthy subjects and severe chronic periodontitis patients. Materials and Methods: 100 patients with severe chronic periodontitis (test group and 100 periodontally healthy subjects (control group in the age group 35-60 years participated in the study. Blood parameters were recorded with blood samples drawn from the antecubital fossa by venous puncture. Results: Periodontitis group showed lower erythrocyte count and mean corpuscular hemoglobin concentration (MCHC, and increased total leukocyte count (TLC and neutrophil, lymphocyte, and eosinophil count, compared to the healthy control group. Conclusions: To conclude, periodontitis may tend toward anemia and there is marked leukocytosis due to increased number of circulating neutrophils and lymphocytes.

  11. Major hematologic diseases in the developing world- new aspects of diagnosis and management of thalassemia, malarial anemia, and acute leukemia.

    Science.gov (United States)

    Greenberg, P L; Gordeuk, V; Issaragrisil, S; Siritanaratkul, N; Fucharoen, S; Ribeiro, R C

    2001-01-01

    The three presentations in this session encompass clinical, pathophysiological and therapeutic aspects of hematologic diseases which impact most heavily on developing world countries. Dr. Victor Gordeuk discusses new insights regarding the multi-faceted pathogenesis of anemia in the complicated malaria occurring in Africa. He describes recent investigations indicating the possible contribution of immune dysregulation to this serious complication and the implications of these findings for disease management. Dr. Surapol Issaragrisil and colleagues describe epidemiologic and clinical characteristics of the thalassemic syndromes. In addition to being considered a major health problem in Southeast Asia, the migration throughout the world of people from this region has caused the disease to have global impact. A unique thalassemia variant, Hb Ebeta-thalassemia, with distinctive clinical features, has particular relevance for this demographic issue. Special focus will be reported regarding recent prenatal molecular screening methods in Thailand which have proven useful for early disease detection and disease control strategies. Dr. Raul Ribeiro describes a clinical model for providing effective treatment for a complex malignancy (childhood acute lymphoblastic leukemia) in countries with limited resources. With the multidisciplinary approach in Central American of the joint venture between St. Jude Children's Research Hospital International Outreach Program and indigenous health care personnel, major therapeutic advances for this disease have been achieved. Given the major demographic population shifts occurring worldwide, these illnesses also have important clinical implications globally. These contributions demonstrate that lessons learned within countries of disease prevalence aid our understanding and management of a number of disorders prominently seen in developed countries. They will show how effective partnerships between hematologists in more and less developed

  12. The role of ferric carboxymaltose in the treatment of iron deficiency anemia in patients with gastrointestinal disease

    Science.gov (United States)

    Koduru, Pramoda; Abraham, Bincy P.

    2016-01-01

    Iron deficiency anemia (IDA) is the most common form of nutritional anemia worldwide. Iron plays a pivotal role in vital functioning of almost every organ system. IDA affects both physical and psychological functioning of humans. Oral iron is considered as first-line therapy for the treatment of IDA due to low cost, good safety profile and ease of administration. However, the absorption of oral iron is affected by several factors and incidence of gastrointestinal side effects can lead to lack of adherence to therapy as well as poor efficacy. This has led to the emergence of intravenous iron therapy which is clearly superior to oral iron with higher increment of hemoglobin levels and rapid replenishment of iron stores. Ferric carboxymaltose (FCM) is a novel non-dextran intravenous iron form which has been approved for use in patients with iron deficiency who have had inadequate response to oral iron therapy, intolerance to oral iron, or nondialysis-dependent chronic kidney disease. The safety and efficacy of using FCM for the treatment of IDA has been demonstrated in several clinical trials. One dose can provide a large amount of iron and has a very short infusion time. It should be considered as first-line therapy in patients with active inflammation like inflammatory bowel disease when gastrointestinal absorption of oral iron may be compromised. It should also be given to patients who have inadequate response to oral iron therapy. It has been shown to be noninferior to other intravenous iron formulations with a good safety profile and produced fewer anaphylactic reactions. PMID:26770269

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

    Directory of Open Access Journals (Sweden)

    Roberto B. de Paiva e Silva

    1993-02-01

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

  14. Improved differential diagnosis of anemia of chronic disease and iron deficiency anemia: a prospective multicenter evaluation of soluble transferrin receptor and the sTfR/log ferritin index.

    Science.gov (United States)

    Skikne, Barry S; Punnonen, Kari; Caldron, Paul H; Bennett, Michael T; Rehu, Mari; Gasior, Gail H; Chamberlin, Janna S; Sullivan, Linda A; Bray, Kurtis R; Southwick, Paula C

    2011-11-01

    Anemia of chronic disease (ACD) and iron deficiency anemia (IDA) are the most prevalent forms of anemia and often occur concurrently. Standard tests of iron status used in differential diagnosis are affected by inflammation, hindering clinical interpretation. In contrast, soluble transferrin receptor (sTfR) indicates iron deficiency and is unaffected by inflammation. Objectives of this prospective multicenter clinical trial were to evaluate and compare the diagnostic accuracy of sTfR and the sTfR/log ferritin index (sTfR Index) for differential diagnosis using the automated Access(®) sTfR assay (Beckman Coulter) and sTfR Index. We consecutively enrolled 145 anemic patients with common disorders associated with IDA and ACD. Subjects with IDA or ACD + IDA had significantly higher sTfR and sTfR Index values than subjects with ACD (P Index: 14 (using nmol/L) (or 1.03 using mg/L). The sTfR Index was superior to sTfR (AUC 0.87 vs. 0.74, P Index). Use of sTfR and the sTfR Index improves detection of IDA, particularly in situations where routine markers provide equivocal results. Findings demonstrate a significant advantage in the simultaneous determination of ferritin, sTfR and sTfR Index. Obtaining a ferritin level alone may delay diagnosis of combined IDA and ACD.

  15. Association analysis revealed one susceptibility locus for vitiligo with immune-related diseases in the Chinese Han population.

    Science.gov (United States)

    Li, Shu; Yao, Weiyi; Pan, Qian; Tang, Xianfa; Zhao, Suli; Wang, Wenjun; Zhu, Zhengwei; Gao, Jinping; Sheng, Yujun; Zhou, Fusheng; Zheng, Xiaodong; Zuo, Xianbo; Sun, Liangdan; Zhang, Anping

    2015-07-01

    Generalized vitiligo is an autoimmune disease characterized by melanocyte loss, which results in patchy depigmentation of skin and hair, and is associated with an elevated risk of other immune-related diseases. However, there is no reported study on the associations between immune susceptibility polymorphisms and the risk of vitiligo with immune-related diseases. The aim of this study was to evaluate the potential influence of 10 single-nucleotide polymorphisms (SNPs) at 18q21.31 (rs10503019), 4p16.1 (rs11940117), 3q28 (rs1464510), 14q12 (rs2273844), 12q13.2 (rs2456973), 16q12.2 (rs3213758), 10q25.3 (rs4353229), 3q13.33 (rs59374417), and 10p15.1 (rs706779 and rs7090530) on vitiligo with immune-related diseases in the Chinese Han population. All SNPs were genotyped in 552 patients with vitiligo-associated immune-related diseases and 1656 controls using the Sequenom MassArray system. Data were analyzed with PLINK 1.07 software. The C allele of rs2456973 at 12q13.2 was observed to be significantly associated with vitiligo-associated immune-related diseases (autoimmune diseases and allergic diseases) (P = 0.0028, odds ratio (OR) = 1.27). In subphenotype analysis, the rs2456973 C allele was also significantly associated with early-onset vitiligo by comparing with controls (P = 0.0001) and in the case-only analysis (P = 0.0114). We confirmed that 12q13.2 was an important candidate locus for vitiligo with immune-related diseases (autoimmune diseases and allergic diseases) and affected disease phenotypes with early onset.

  16. Anemia falciforme e infecções Sickle cell disease and infection

    OpenAIRE

    Di Nuzzo, Dayana V. P.; Silvana F. Fonseca

    2004-01-01

    OBJETIVO: A alta prevalência de anemia falciforme em nosso meio e a elevada morbimortalidade por infecções associada a esta condição estimularam a realização deste artigo de revisão. FONTE DE DADOS: Realizamos uma revisão bibliográfica no banco de dados MEDLINE no período de 1986 até 2003. Foram encontradas cerca de 600 referências sobre o tema, sendo selecionados 35 artigos, os quais, aliados a capítulos de dois livros-textos, compuseram esta revisão. SÍNTESE DOS DADOS: Neste artigo, além de...

  17. Diamond-Blackfan anemia and nutritional deficiency-induced anemia in children.

    Science.gov (United States)

    Gelbart, David

    2014-04-01

    Diamond-Blackfan anemia is a rare, inherited disease that characteristically presents as a chronic, normochromic macrocytosis due to red cell lineage bone marrow failure. Although studies are elaborating on the genetic basis for its associated comorbidities, little has been published comparing this anemia to other chronic anemias that have similar laboratory results in children. This article offers a global perspective of the disease and compares it with anemia due to vitamin B12 and folate deficiency in children.

  18. Iron Deficiency Anemia in Pregnancy.

    Science.gov (United States)

    Breymann, Christian

    2015-10-01

    Anemia is a common problem in obstetrics and perinatal care. Any hemoglobin below 10.5 g/dL can be regarded as true anemia regardless of gestational age. Reasons for anemia in pregnancy are mainly nutritional deficiencies, parasitic and bacterial diseases, and inborn red blood cell disorders such as thalassemias. The main cause of anemia in obstetrics is iron deficiency, which has a worldwide prevalence between estimated 20%-80% and consists of a primarily female population. Stages of iron deficiency are depletion of iron stores, iron-deficient erythropoiesis without anemia, and iron deficiency anemia, the most pronounced form of iron deficiency. Pregnancy anemia can be aggravated by various conditions such as uterine or placental bleedings, gastrointestinal bleedings, and peripartum blood loss. In addition to the general consequences of anemia, there are specific risks during pregnancy for the mother and the fetus such as intrauterine growth retardation, prematurity, feto-placental miss ratio, and higher risk for peripartum blood transfusion. Besides the importance of prophylaxis of iron deficiency, the main therapy options for the treatment of pregnancy anemia are oral iron and intravenous iron preparations.

  19. Immune hemolytic anemia

    Science.gov (United States)

    Anemia - immune hemolytic; Autoimmune hemolytic anemia (AIHA) ... for no reason, the condition is called idiopathic autoimmune hemolytic anemia . The antibodies may also be caused by: Complication ...

  20. Divalent metal-ion transporter 1 is decreased in intestinal epithelial cells and contributes to the anemia in inflammatory bowel disease.

    Science.gov (United States)

    Wu, Wei; Song, Yang; He, Chong; Liu, Changqin; Wu, Ruijin; Fang, Leilei; Cong, Yingzi; Miao, Yinglei; Liu, Zhanju

    2015-11-17

    Divalent metal-ion transporter 1 (DMT1) has been found to play an important role in the iron metabolism and hemogenesis. However, little is known about the potential role of DMT1 in the pathogenesis of anemia from patients with inflammatory bowel disease (IBD). Herein, we investigated expression of DMT1 in the intestinal mucosa by quantitative real-time polymerase chain reaction (qRT-PCR) and immunohistochemistry, and found that DMT1 was significantly decreased in the inflamed mucosa of active IBD patients compared with that in those patients at remission stage and healthy controls. To further study the mechanism, we cultured HCT 116 cell line in vitro. Expression of DMT1 in HCT116 was demonstrated to be markedly decreased under stimulation with TNF for 24 and 48 h, while JNK inhibitor (JNK-IN-7) could significantly reverse the decrease. Interestingly, anti-TNF therapy successfully improved anemia in clinical responsive Crohn's disease patients, and DMT1 was found to be markedly up-regulated in intestinal mucosa. Taken together, our studies demonstrate that decreased expression of DMT1 in intestinal mucosa leads to compromised absorption and transportation of iron and that blockade of TNF could rescue anemia and promote DMT1 expression in gut mucosa. This work provides a therapeutic approach in the management of anemia in IBD.

  1. Pernicious Anemia

    Science.gov (United States)

    ... well, and live normal lives. Without treatment, pernicious anemia can lead to serious problems with the heart, nerves, and other parts of the body. Some of ... INDEX ACCESSIBILITY PRIVACY STATEMENT FOIA NO FEAR ACT OIG ...

  2. Memory Stem T Cells in Autoimmune Disease: High Frequency of Circulating CD8+ Memory Stem Cells in Acquired Aplastic Anemia.

    Science.gov (United States)

    Hosokawa, Kohei; Muranski, Pawel; Feng, Xingmin; Townsley, Danielle M; Liu, Baoying; Knickelbein, Jared; Keyvanfar, Keyvan; Dumitriu, Bogdan; Ito, Sawa; Kajigaya, Sachiko; Taylor, James G; Kaplan, Mariana J; Nussenblatt, Robert B; Barrett, A John; O'Shea, John; Young, Neal S

    2016-02-15

    Memory stem T cells (TSCMs) constitute a long-lived, self-renewing lymphocyte population essential for the maintenance of functional immunity. Hallmarks of autoimmune disease pathogenesis are abnormal CD4(+) and CD8(+) T cell activation. We investigated the TSCM subset in 55, 34, 43, and 5 patients with acquired aplastic anemia (AA), autoimmune uveitis, systemic lupus erythematosus, and sickle cell disease, respectively, as well as in 41 age-matched healthy controls. CD8(+) TSCM frequency was significantly increased in AA compared with healthy controls. An increased CD8(+) TSCM frequency at diagnosis was associated with responsiveness to immunosuppressive therapy, and an elevated CD8(+) TSCM population after immunosuppressive therapy correlated with treatment failure or relapse in AA patients. IFN-γ and IL-2 production was significantly increased in various CD8(+) and CD4(+) T cell subsets in AA patients, including CD8(+) and CD4(+) TSCMs. CD8(+) TSCM frequency was also increased in patients with autoimmune uveitis or sickle cell disease. A positive correlation between CD4(+) and CD8(+) TSCM frequencies was found in AA, autoimmune uveitis, and systemic lupus erythematosus. Evaluation of PD-1, CD160, and CD244 expression revealed that TSCMs were less exhausted compared with other types of memory T cells. Our results suggest that the CD8(+) TSCM subset is a novel biomarker and a potential therapeutic target for AA.

  3. Mapping of the chromosome 1p36 region surrounding the Charcot-Marie-Tooth disease type 2A locus

    Energy Technology Data Exchange (ETDEWEB)

    Denton, P.; Gere, S.; Wolpert, C. [Duke Univ., Durham, NC (United States)] [and others

    1994-09-01

    Charcot-Marie-Tooth (CMT) disease is the most common inherited peripheral neuropathy. Although CMT2 is clinically indistinguishable from CMT1, the two forms can be differentiated by pathological and neurophysiological methods. We have established one locus, CMT2A on chromosome 1p36, and have established genetic heterogeneity. This locus maps to the region of the deletions associated with neuroblastoma. We have now identified an additional 11 CMT2 families. Three families are linked to chromosome 1p36 while six families are excluded from this region. Another six families are currently under analysis and collection. To date the CMT2A families represent one third of those CMT2 families examined. We have established a microdissection library of the 1p36 region which is currently being characterized for microsatellite repeats and STSs using standard hybridization techniques and a modified degenerate primer method. In addition, new markers (D1S253, D1S450, D1S489, D1S503, GATA27E04, and GATA4H04) placed in this region are being mapped using critical recombinants in the CEPH reference pedigrees. Fluorescent in situ hybridization (FISH) has been used to confirm mapping. A YAC contig is being assembled from the CEPH megabase library using STSs to isolate key YACs which are extended by vectorette end clone and Alu-PCR. These findings suggest that the CMT2 phenotype is secondary to at least two different genes and demonstrates further heterogeneity in the CMT phenotype.

  4. Study on immunofunction and immunoregulation post newcastle disease vaccination of chickens infected with chicken anemia virus

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    Chickens were infected with chicken anemia virus (CAV) at one-day-old and vaccinated with La Sota vaccine 8 days later. Meanwhile, uninfected chickens were vaccinated as controls. At 7, 14 and 28 days post vaccination, the content of IgG,IgM,IgA and HI titer in serum, the number of T cells, IgG, IgM and IgA antibody producing cells in thymus, bursa and spleen, the proliferative response of T、B cells, the inductive activity of interleukin 2 (IL-2) and interferon (IFN) in thymus and spleen were tested. The results showed that the content of IgG, IgM, IgA and hemoagglutination inhibition (HI) titer in serum, the number of T cells, IgG, IgM and IgA antibody producing cells in thymus, bursa and spleen, the proliferative response of T cells and B cells as well as the inductive activity of IL-2 and IFN in thymus and spleen of infected-vaccinated chickens significantly decreased compared with the control. These results indicated that the immunofunction and immunoregulation were dropped post ND vaccination of CAV-infected chickens.

  5. Types of Hemolytic Anemia

    Science.gov (United States)

    ... from the NHLBI on Twitter. Types of Hemolytic Anemia There are many types of hemolytic anemia. The ... the condition, but you develop it. Inherited Hemolytic Anemias With inherited hemolytic anemias, one or more of ...

  6. What Is Aplastic Anemia?

    Science.gov (United States)

    ... from the NHLBI on Twitter. What Is Aplastic Anemia? Aplastic anemia (a-PLAS-tik uh-NEE-me-uh) is ... heart, heart failure , infections, and bleeding. Severe aplastic anemia can even cause death. Overview Aplastic anemia is ...

  7. What Causes Anemia?

    Science.gov (United States)

    ... page from the NHLBI on Twitter. What Causes Anemia? The three main causes of anemia are: Blood ... the blood and can lead to anemia. Aplastic Anemia Some infants are born without the ability to ...

  8. Anemia (For Teens)

    Science.gov (United States)

    ... Loss Surgery? A Week of Healthy Breakfasts Shyness Anemia KidsHealth > For Teens > Anemia Print A A A ... Getting Enough Iron en español Anemia What Is Anemia? Lots of teens are tired. With all the ...

  9. What Is Fanconi Anemia?

    Science.gov (United States)

    ... Living With Clinical Trials Links Related Topics Anemia Aplastic Anemia Blood and Bone Marrow Transplant Congenital Heart Defects ... red blood cells. FA is a type of aplastic anemia . In aplastic anemia, the bone marrow stops making ...

  10. Anemia (For Teens)

    Science.gov (United States)

    ... Loss Surgery? A Week of Healthy Breakfasts Shyness Anemia KidsHealth > For Teens > Anemia A A A What's ... Getting Enough Iron en español Anemia What Is Anemia? Lots of teens are tired. With all the ...

  11. A major non-HLA locus in celiac disease maps to chromosome 19.

    NARCIS (Netherlands)

    Belzen, van MJ; Meijer, JW; Sandkuijl, L.A.; Bardoel, A.F.; Mulder, C.J.J.; Pearson, PL; Houwen, RH; Wijmenga, C.

    2003-01-01

    BACKGROUND AND AIMS: The pathogenesis of celiac disease is still unknown despite its well-known association with human leukocyte antigen (HLA)-DQ2 and DQ8. It is clear that non-HLA genes contribute to celiac disease development as well, but none of the previous genome-wide screens in celiac disease

  12. Iron Deficiency Anemia in Adult Onset Still's Disease with a Serum Ferritin of 26,387 μg/L

    Directory of Open Access Journals (Sweden)

    Sheetal Patel

    2011-01-01

    Full Text Available Serum ferritin rises in the anemia of chronic inflammation reflecting increased iron storage and other changes mediated by inflammation. When iron deficiency coexists, the ferritin may not always decline into the subnormal range. We describe the rare interaction of iron deficiency with the extreme hyperferritinemia characteristic of adult onset Still's disease. The combination has clinical relevance and allows deductions about the presence of serum ferritin at 26,387 μg/L despite obvious iron depletion. The diagnosis of iron deficiency anemia was delayed and became fully obvious when her Still's disease remitted and serum ferritin decreased to 6.5 μg/L. The coexistence of iron deficiency should be considered when evaluating a patient with anemia of chronic inflammation even when the ferritin level is elevated several hundredfold. Further insights on ferritin metabolism in Still's disease are suggested by the likelihood that the patient's massive hyperferritinemia in the acute phase of Still's disease was almost entirely of the iron-free apoferritin form.

  13. Anemia (For Parents)

    Science.gov (United States)

    ... Old Feeding Your 1- to 2-Year-Old Anemia KidsHealth > For Parents > Anemia Print A A A ... Preventing Iron-Deficiency Anemia en español Anemia About Anemia Anemia happens when the level of healthy red ...

  14. Gravidade da doença renal cística adquirida determina melhora da anemia da insuficiência renal crônica Improvement on anemia in acquired cystic disease of the end-stage kidney

    Directory of Open Access Journals (Sweden)

    H.M. Bezerra

    1997-03-01

    Full Text Available OBJETIVO. Identificar correlação entre duração do tratamento dialítico, gravidade da doença renal cística adquirida (DRCA medida pelo tamanho dos cistos e seu efeito sobre a correção espontânea da anemia. MATERIAL E MÉTODOS. Foram selecionados dez pacientes, seis do sexo masculino e quatro do feminino, com mais de cinco anos em tratamento dialítico. Nenhum paciente selecionado tinha doença renal policística bilateral como doença primária. A avaliação renal foi feita com ultra-sonografia. DRCA foi caracterizada pela presença de quatro ou mais cistos em cada rim. Os maiores cistos foram medidos para efeito de correlação. O diagnóstico da anemia foi estabelecido pelo valor do hematócrito e da hemoglobina séricos. Foram analisados, também, uréia, creatinina, albumina, ferro, capacidade total de combinação do ferro e o percentual de saturação da transferrina séricos. RESULTADOS. Os pacientes estavam adequadamente dialisados (uréia e creatinina séricas = 98,7 ± 35mg/dL e 9,7 ± 2,7mg/dL, respectivamente, com bom estado nutricional (albumina sérica = 4,5 ± 0,5g/dL, e tinham razoável reserva de ferro (ferro sérico = 80 ± 34mg/dL. A prevalência de DRCA foi de 80%. Não detectamos nenhum sinal ultra-sonográfico de malignidade nesses cistos. Houve correlação significante entre tempo de diálise e hematócrito (R = 0,70; p OBJECTIVE - To identify a correlation between dialysis treatment duration and severity of acquired cystic disease of the end-stage kidney measured by cyst sizes; and assess its effect on spontaneous improvement of anemia. MATERIALS AND METHODS - Ten patients, 6 males and 4 females were selected, who have been on hemodialytic treatment for more than 5 years. There was no patient selected with autosomal dominant polycystic kidney disease. The renal evaluation has been made through ultrasonographic studies. Acquired cystic disease of the end-stage kidney was characterized by finding four or more

  15. H.pylori associated with iron deficiency anemia even in celiac disease patients; strongly evidence based but weakly reflected in practice

    OpenAIRE

    Rostami-Nejad, Mohammad; Aldulaimi, David; Livett, Helen; Rostami, Kamran

    2015-01-01

    Inflammation can lead to malabsorption of important micronutrients such as iron. Malabsorption and nutritional deficiency can be caused by a variety of pathological and environmental factors causing a range of other symptoms commonly caused by both H. pylori infection and coeliac disease (CD). National guidelines suggest the routine taking of duodenal biopsies to exclude CD when investigating patients for iron deficiency anemia (IDA). Studies suggest that in absence of positive antibodies, ID...

  16. Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4.

    Directory of Open Access Journals (Sweden)

    Cécile Libioulle

    2007-04-01

    Full Text Available To identify novel susceptibility loci for Crohn disease (CD, we undertook a genome-wide association study with more than 300,000 SNPs characterized in 547 patients and 928 controls. We found three chromosome regions that provided evidence of disease association with p-values between 10(-6 and 10(-9. Two of these (IL23R on Chromosome 1 and CARD15 on Chromosome 16 correspond to genes previously reported to be associated with CD. In addition, a 250-kb region of Chromosome 5p13.1 was found to contain multiple markers with strongly suggestive evidence of disease association (including four markers with p < 10(-7. We replicated the results for 5p13.1 by studying 1,266 additional CD patients, 559 additional controls, and 428 trios. Significant evidence of association (p < 4 x 10(-4 was found in case/control comparisons with the replication data, while associated alleles were over-transmitted to affected offspring (p < 0.05, thus confirming that the 5p13.1 locus contributes to CD susceptibility. The CD-associated 250-kb region was saturated with 111 SNP markers. Haplotype analysis supports a complex locus architecture with multiple variants contributing to disease susceptibility. The novel 5p13.1 CD locus is contained within a 1.25-Mb gene desert. We present evidence that disease-associated alleles correlate with quantitative expression levels of the prostaglandin receptor EP4, PTGER4, the gene that resides closest to the associated region. Our results identify a major new susceptibility locus for CD, and suggest that genetic variants associated with disease risk at this locus could modulate cis-acting regulatory elements of PTGER4.

  17. WNT2 Locus Is Involved in Genetic Susceptibility of Peyronie's Disease

    NARCIS (Netherlands)

    Dolmans, Guido H.; Werker, Paul M.; de Jong, Igle J.; Nijman, Rien J.; Wijmenga, Cisca; Ophoff, Roel A.

    2012-01-01

    Introduction. Peyronie's disease (PD) is a fibromatosis of the penis, with a pathology very similar to what is seen in the hand (palmar fascia) in Dupuytren's disease (DD). Recently, we performed a genome-wide association study and identified nine genetic loci containing common variants associated w

  18. Identification of a shared genetic susceptibility locus for coronary heart disease and periodontitis

    NARCIS (Netherlands)

    Schaefer, A.S.; Richter, G.M.; Groessner-Schreiber, B.; Noack, D.; Nothnagel, M.; El Mokhtari, N.E.; Loos, B.G.; Jepsen, S.; Schreiber, S.

    2009-01-01

    Recent studies indicate a mutual epidemiological relationship between coronary heart disease (CHD) and periodontitis. Both diseases are associated with similar risk factors and are characterized by a chronic inflammatory process. In a candidate-gene association study, we identify an association of a

  19. Sickle Cell Anemia (For Teens)

    Science.gov (United States)

    ... Loss Surgery? A Week of Healthy Breakfasts Shyness Sickle Cell Disease KidsHealth > For Teens > Sickle Cell Disease Print ... Stay Well? en español Anemia falciforme What Is Sickle Cell Disease? Sickle cell disease is a blood disorder ...

  20. Intravenous Iron Dextran as a Component of Anemia Management in Chronic Kidney Disease: A Report of Safety and Efficacy

    Directory of Open Access Journals (Sweden)

    Lenar Yessayan

    2013-01-01

    Full Text Available Objective. We aimed to demonstrate safety and efficacy of intravenous (IV low molecular weight iron dextran (LMWID during treatment of anemic stage 3 and 4 chronic kidney disease (CKD patients. Methods. Efficacy data was obtained by retrospective chart review of 150 consecutively enrolled patients. Patients were assigned per protocol to oral or IV iron, with IV iron given to those with lower iron stores and/or hemoglobin. Iron and darbepoetin were administered to achieve and maintain hemoglobin at 10–12 g/dL. Efficacy endpoints were mean hemoglobin and change in iron indices approximately 30 and 60 days after enrollment. Safety data was obtained by retrospective review of reported adverse drug events (ADEs following 1699 infusions of LMWID (0.5–1.0 g. Results. Mean hemoglobin, iron saturation, and ferritin increased significantly from baseline to 60 days in patients assigned to LMWID (hemoglobin: 11.3 versus 9.4 g/dL; iron saturation: 24% versus 12.9%; ferritin: 294.7 versus 134.7 ng/mL; all . Iron stores and hemoglobin were maintained in the group assigned to oral iron. Of 1699 iron dextran infusions, three ADEs occurred. Conclusions. Treatment of anemia in CKD stages 3 and 4 with LMWID and darbepoetin is efficacious. The serious ADE rate was 0.06% per infusion.

  1. 慢性肾脏病患者贫血发病情况分析%The Prevalence of Anemia in Patients with Chronic Kidney Disease

    Institute of Scientific and Technical Information of China (English)

    保红云; 荣冬靖; 邱敏; 李欣樾

    2011-01-01

    目的 探讨CKD 患者贫血的发病情况及其相关因素.方法 收集2007年1月至2010年1月在云南省第三人民医院肾脏血液风湿免疫科住院的CKD患者465例,对其临床和实验室资料进行回顾性分析.结果 465例CKD患者中,贫血的发病率为72.04%,其中年龄<30岁、30~50岁、50~70岁、>70岁的患者贫血的发病率依次为47.06%、60.94%、74.42%、86.26%;CKDⅠ~Ⅴ期的患者贫血的发病率依次为24.19%、43.84%、63.22%、88.61%和99.39%;经eGFR 矫正后,不同肾脏基础疾病患者贫血的发病率由高到低依次为糖尿病肾病(78.78%)、高血压肾病(66.00%)、慢性肾小球肾炎(65.61%)和多囊肾(60.00%);透析组与非透析组患者贫血的发病率分别为99.00%和51.75%(P<0.001).单因素分析表明,年龄、肾功能情况及透析与否均与贫血的发病率相关.结论 慢性肾脏病患者贫血的发病率较高,肾功能减退、年龄等是其发生的危险因素.%Objective To investigate the prevalence of anemia in the patients with chronic kidney disease (CKD) and the related factors.Method The data of 465 in-patients with CKD in our hospital from January 2007 to January 2010 were collected and retrospectively analyzed.Results In the 465 patients with CKD, the prevalence of anemia was 72.04%, the prevalence of anemia in patients <30 years, 30 ~ 50 years, 50 ~ 70 years, and > 70 years was 47.06%, 60.94%, 74.45% and 86.26%, respectively.The prevalence of anemia in patients with CKD in stage Ⅰ ~ Ⅴ was 24.19%, 43.84%, 63.22%, 88.61% and 99.39%, respectively.The prevalence of anemia in patients with CKD corrected by GFR was associated with varied underling diseases, and the sequence from high to low was diabetic nephropathy (78.78%) , hypertensive nephropathy (66.00%) ,chronic glomeruionephritis (65.61%) and ploycystic renal disease (60.00%).The prevalence of anemia in dialysis patients and non-dialysis patients was 97

  2. 炎性肠病相关贫血的研究进展%Research progress of anemia associated with inflammatory bowel diseases

    Institute of Scientific and Technical Information of China (English)

    洪之武; 任建安

    2012-01-01

    Anemia is a frequent and serious complication in patients with inflammatory bowel disease (IBD).One third of patients with inflammatory bowel disease suffers from recurrent anemia.Anemia is associated with a decrease in the quality of life and an increased rate of hospitalization.A number of studies have been conducted and the most relevant conclusions obtained are:(1)anemia is quite common in IBD; (2)although in many cases anemia parallels the clinical activity of the disease,many patients in remission have anemia, and iron, vitamin B12 and/or folic acid deficiency; (3)anemia, and also iron deficiency without anemia,have important consequences in the clinical status and quality of life of the patients; (4)oral iron supplement is limited by poor absorption,intolerance,and induction of oxidative stress at the site of bowel inflammation; (5) intravenous iron sucrose has a high efficiency and a significant improvement in the quality of life; (6)erythropoietin is needed in a significant number of cases to achieve normal hemoglobin levels.Combination therapy with erythropoietin leads to a faster and larger hemoglobin increase.Thus,clinicians caring for IBD patients should have a comprehensive knowledge of anemia,and apply recently published guidelines in clinical practice.%贫血是炎性肠病(IBD)患者常见且严重的并发症,贫血可致该类患者生活质量的下降及住院时间和住院次数的增加.大量研究及相关结论证实:(1)贫血情况在IBD中普遍存在;(2)尽管在很多情况下贫血与IBD患者疾病活动性相关,但许多缓解期患者同样存在贫血和铁、维生素B12和(或)叶酸的缺乏;(3)贫血或单纯缺铁即可对患者病情转归和生活质量造成严重影响;(4)口服铁剂受患者低吸收率、耐受差和肠道病变部位氧化应激反应的影响而疗效不佳;(5)静脉补铁有效率高,且可明显改善患者生活质量;(6)为达到理想的血红蛋白水平,联合应用促红细胞生成素(EPO

  3. Bed bugs reproductive life cycle in the clothes of a patient suffering from Alzheimer's disease results in iron deficiency anemia.

    Science.gov (United States)

    Sabou, Marcela; Imperiale, Delphine Gallo; Andrès, Emmanuel; Abou-Bacar, Ahmed; Foeglé, Jacinthe; Lavigne, Thierry; Kaltenbach, Georges; Candolfi, Ermanno

    2013-01-01

    We report the case of an 82-year-old patient, hospitalized for malaise. Her clothes were infested by numerous insects and the entomological analysis identified them as being Cimex lectularius (bed bugs). The history of the patient highlighted severe cognitive impairment. The biological assessment initially showed a profound microcytic, aregenerative, iron deficiency anemia. A vitamin B12 deficiency due to pernicious anemia (positive intrinsic factor antibodies) was also highlighted, but this was not enough to explain the anemia without macrocytosis. Laboratory tests, endoscopy and a CT scan eliminated a tumor etiology responsible for occult bleeding. The patient had a mild itchy rash which was linked to the massive colonization by the bed bugs. The C. lectularius bite is most often considered benign because it is not a vector of infectious agents. Far from trivial, a massive human colonization by bed bugs may cause such a hematic depletion that severe microcytic anemia may result.

  4. Mapping of the disease locus and identification of ADAMTS10 as a candidate gene in a canine model of primary open angle glaucoma.

    Directory of Open Access Journals (Sweden)

    John Kuchtey

    2011-02-01

    Full Text Available Primary open angle glaucoma (POAG is a leading cause of blindness worldwide, with elevated intraocular pressure as an important risk factor. Increased resistance to outflow of aqueous humor through the trabecular meshwork causes elevated intraocular pressure, but the specific mechanisms are unknown. In this study, we used genome-wide SNP arrays to map the disease gene in a colony of Beagle dogs with inherited POAG to within a single 4 Mb locus on canine chromosome 20. The Beagle POAG locus is syntenic to a previously mapped human quantitative trait locus for intraocular pressure on human chromosome 19. Sequence capture and next-generation sequencing of the entire canine POAG locus revealed a total of 2,692 SNPs segregating with disease. Of the disease-segregating SNPs, 54 were within exons, 8 of which result in amino acid substitutions. The strongest candidate variant causes a glycine to arginine substitution in a highly conserved region of the metalloproteinase ADAMTS10. Western blotting revealed ADAMTS10 protein is preferentially expressed in the trabecular meshwork, supporting an effect of the variant specific to aqueous humor outflow. The Gly661Arg variant in ADAMTS10 found in the POAG Beagles suggests that altered processing of extracellular matrix and/or defects in microfibril structure or function may be involved in raising intraocular pressure, offering specific biochemical targets for future research and treatment strategies.

  5. Anemia crônica e glomerulopatia secundárias à Doença de Depósito das Cadeias Leves Chronic anemia and glomerulopathy secondary to Light-chain Deposition Disease

    Directory of Open Access Journals (Sweden)

    Ítala P. Silveira

    2004-01-01

    Full Text Available Os autores relatam o caso de uma paciente do sexo feminino, 65 anos de idade, internada com anemia de longa evolução que se associou posteriormente a uma glomerulopatia manifestada por proteinúria, cilindrúria e perda de função renal. As cadeias leves no plasma e na urina estavam elevadas, sobretudo a fração kappa e uma biópsia renal estudada por imunofluorescência e microscopia eletrônica confirmou o diagnóstico de Doença de Depósito das Cadeias Leves. A nefropatia de cadeia leve ocorre pela superprodução de cadeia leve de imunoglobulina produzida por linfócitos B com deposição nas membranas tubulares e no glomérulo.The authors present a case of a 65-year-old female patient, with chronic anemia associated with glomerulopathy manifested as proteinuria, cylindruria and renal failure. There were high serum and urinary levels of light chains and the diagnosis was performed by renal biopsy, examined using immunofluorescence and by electron microscopy that showed light chain paraproteins. Nephropathy of light-chain deposition disease occurs due to an over-production of light chains from immunoglobulins produced by B lymphocytes with a deposit in tubular and glomerular membranes.

  6. A radiation hybrid map of human chromosome 11q22-q23 containing the ataxia-telangiectasia disease locus

    Energy Technology Data Exchange (ETDEWEB)

    Richard, C.W. III; Cox, D.R.; Kapp, L.; Murnane, J. (Univ. of California, San Francisco, CA (United States)); Cornelis, F.; Julier, C.; Lathrop, M.; James, M.R. (Centre d' Etude du Polymorphisme Humain, Paris (France))

    1993-07-01

    The authors describe a high-resolution radiation hybrid map of human chromosome 11q22-q23 containing the ataxia-telangiectasia (AT) disease gene loci. The order and intermarker distances of 32 chromosome 11q22-q23 markers were determined by a multipoint maximum likelihood method analysis of the cosegregation of markers in 100 radiation hybrids. The radiation hybrid map of polymorphic loci was consistent with genetic linkage maps of common markers. Several genes, including [alpha]B-crystallin, adrenal ferrodoxin, CBL2, collagenase, dopamine receptor type 2, neural cell adhesion molecule, progesterone receptor, and stromelysins 1 and 2, were placed in relation to previously ordered, genetically mapped polymorphic loci. Five new markers ([alpha]B-crystallin, adrenal ferrodoxin, CJ52.114, CJ52.3, and D11S535) were ordered within the current published flanking markers for the AT group A and group C disease loci. A candidate AT group D gene (ATDC) identified by Kapp et al. was mapped telomeric to THY1, outside the flanking markers identified by multipoint linkage analysis for the major AT locus. 29 refs., 1 fig., 2 tabs.

  7. Sexuality and sickle cell anemia

    Directory of Open Access Journals (Sweden)

    Viviane de Almeida Côbo

    2013-01-01

    Full Text Available BACKGROUND: Sickle cell disease, the most common hereditary blood disease in the world, is the result of an atypical hemoglobin called S (Hb S which, when homozygous (Hb SS is the cause of sickle cell anemia. Changes of puberty, correlated with a delayed growth spurt, begin late in both male and female sickle cell anemia individuals with repercussions on sexuality and reproduction. The objectives of this exploratory and descriptive study were to characterize the development of sexuality in adults with sickle cell anemia by investigating the patient's perception of their sex life, as well as the information they had and needed on this subject. METHODS: Twenty male and female sickle cell anemia patients treated at the Hemocentro Regional de Uberaba (UFTM with ages between 19 and 47 years old were enrolled. A socioeconomic questionnaire and a semi-structured interview on sexuality, reproduction and genetic counseling were applied. RESULTS: This study shows that the sickle cell anemia patients lacked information on sexuality especially about the risks of pregnancy and the possible inheritance of the disease by their children. Moreover, the sexual life of the patients was impaired due to pain as well as discrimination and negative feelings experienced in close relationships. CONCLUSION: The health care of sickle cell anemia patients should take into account not only the clinical aspects of the disease, but also psychosocial aspects by providing counseling on sexuality, reproduction and genetics, in order to give this population the possibility of a better quality of life.

  8. Aplastic anemia

    Science.gov (United States)

    ... the number of these blood cell types. Aplastic anemia can be caused by: Use of certain drugs or exposure to toxic chemicals (such as benzene) Exposure to radiation or chemotherapy Autoimmune disorders Pregnancy Viruses Sometimes, the cause is unknown. In this ...

  9. Hemolytic Anemia

    Science.gov (United States)

    ... may require ongoing treatment. Acquired forms of hemolytic anemia may go away if the cause of the condition is found and corrected. Rate This Content: NEXT >> Updated: March 21, 2014 Twitter Facebook YouTube Google+ SITE INDEX ACCESSIBILITY PRIVACY STATEMENT FOIA NO FEAR ACT OIG ...

  10. Abnormal expression of inflammatory genes in placentas of women with sickle cell anemia and sickle hemoglobin C disease.

    Science.gov (United States)

    Baptista, Letícia C; Costa, Maria Laura; Ferreira, Regiane; Albuquerque, Dulcinéia M; Lanaro, Carolina; Fertrin, Kleber Y; Surita, Fernanda G; Parpinelli, Mary A; Costa, Fernando F; Melo, Mônica Barbosa de

    2016-10-01

    Sickle cell disease (SCD) is a complex disease that is characterized by the polymerization of deoxyhemoglobin S, altered red blood cell membrane biology, endothelial activation, hemolysis, a procoagulant state, acute and chronic inflammation, and vaso-occlusion. Among the physiological changes that occur during pregnancy, oxygen is consumed by fetal growth, and pregnant women with SCD are more frequently exposed to low oxygen levels. This might lead to red blood cells sickling, and, consequently, to vaso-occlusion. The mechanisms by which SCD affects placental physiology are largely unknown, and chronic inflammation might be involved in this process. This study aimed to evaluate the gene expression profile of inflammatory response mediators in the placentas of pregnant women with sickle cell cell anemia (HbSS) and hemoglobinopathy SC (HbSC). Our results show differences in a number of these genes. For the HbSS group, when compared to the control group, the following genes showed differential expression: IL1RAP (2.76-fold), BCL6 (4.49-fold), CXCL10 (-2.12-fold), CXCR1 (-3.66-fold), and C3 (-2.0-fold). On the other hand, the HbSC group presented differential expressions of the following genes, when compared to the control group: IL1RAP (4.33-fold), CXCL1 (3.05-fold), BCL6 (4.13-fold), CXCL10 (-3.32-fold), C3 (-2.0-fold), and TLR3 (2.38-fold). Taken together, these data strongly suggest a differential expression of several inflammatory genes in both SCD (HbSS and HbSC), indicating that the placenta might become an environment with hypoxia, and increased inflammation, which could lead to improper placental development.

  11. A new iron free treatment with oral fish cartilage polysaccharide for iron deficiency chronic anemia in inflammatory bowel diseases: A pilot study

    Institute of Scientific and Technical Information of China (English)

    Andrea Belluzzi; Giulia Roda; Francesca Tonon; Antonio Soleti; Alessandra Caponi; Anna Tuci; Aldo Roda; Enrico Roda

    2007-01-01

    AIM: To investigate the effect of a new oral preparation, highly concentrated in fish cartilage, in a group of inflammatory bowel diseases (IBD) patients with chronic iron deficient anemia.METHODS: In an open label pilot study, we supplemented a group of 25 patients (11 with Crohn's disease and 14 with ulcerative colitis) in stable clinical conditions and chronic anemia with a food supplement which does not contain iron but contains a standardized fraction of fish cartilage glycosaminoglycans and a mixture of antioxidants (Captafer Medestea, Turin, Italy). Patients received 500 mg, twice a day during meals, for at least 4 mo. Patients were suggested to maintain their alimentary habit. At time 0 and after 2 and 4 mo, emocrome, sideremia and ferritin were examined. Paired data were analyzed with Student's t test.RESULTS: Three patients relapsed during the study (2 in the 3rt mo, 1 in the 4th mo), two patients were lost to follow up and two patients dropped out (1 for orticaria, 1 for gastric burning). Of the remaining 18 patients, levels of serum iron started to rapidly increase within the 2nd mo of treatment, P < 0.05), whereas serum ferritin and hemoglobin needed a longer period to significantly improve their serum levels (mo 4) P < 0.05. The product was safe, easy to administer and well tolerated by patients.CONCLUSION: These data suggest a potential new treatment for IBD patients with iron deficiency chronic anemia and warrant further larger controlled studies.

  12. ATP5H/KCTD2 locus is associated with Alzheimer's disease risk

    NARCIS (Netherlands)

    M. Boada (Mercè); C. Antúnez (C.); R. Ramírez-Lorca (R.); A.L. DeStefano (Anita); A. González-Pérez (A.); J. Gayán (J.); J. López-Arrieta (J.); M.A. Ikram (Arfan); I. Hernández (Isabel); J. Marín (J.); J.J. Galán (J.); J.C. Bis (Joshua); A. Mauleón (A.); M. Rosende-Roca (M.); C. Moreno-Rey (C.); V. Gudnasson (V.); F.J. Morón (F.); J. Velasco (J.); B. Carrasco (Begoña); M. Alegret (M.); L. Espinosa (Lluis); G. Vinyes (G.); A. Lafuente (A.); L. Vargas (L.); A.L. Fitzpatrick (Annette); L.J. Launer (Lenore); M.E. Sáez (M.); R. Vázquez (Rolando); J.T. Becker (James); O.L. Lopez (Oscar); M. Serrano-Ríos (Manuel); L. Tárraga (L.); C.M. van Duijn (Cock); L.M. Real (L.); S. Seshadri (Sudha); A. Ruiz (A.)

    2014-01-01

    textabstractTo identify loci associated with Alzheimer disease, we conducted a three-stage analysis using existing genome-wide association studies (GWAS) and genotyping in a new sample. In Stage I, all suggestive single-nucleotide polymorphisms (at P<0.001) in a previously reported GWAS of seven ind

  13. Postural instability in Parkinson's disease: the adrenergic hypothesis and the locus coeruleus.

    NARCIS (Netherlands)

    Grimbergen, Y.A.M.; Langston, J.W.; Roos, R.A.; Bloem, B.R.

    2009-01-01

    Parkinson's disease (PD) is traditionally viewed as a mainly hypodopaminergic syndrome, with symptoms resulting predominantly from loss of dopamine-producing neurons in the substantia nigra. However, while most of the cardinal motor features of PD respond well to dopaminergic therapy, many other fea

  14. Multi-locus genetic risk score predicts risk for Crohn's disease in Slovenian population

    NARCIS (Netherlands)

    Zupančič, Katarina; Skok, Kristijan; Repnik, Katja; Weersma, Rinse K; Potočnik, Uroš; Skok, Pavel

    2016-01-01

    AIM: To develop a risk model for Crohn's disease (CD) based on homogeneous population. METHODS: In our study were included 160 CD patients and 209 healthy individuals from Slovenia. The association study was performed for 112 single nucleotide polymorphisms (SNPs). We generated genetic risk scores (

  15. Chromosome 21 Scan in Down Syndrome Reveals DSCAM as a Predisposing Locus in Hirschsprung Disease

    NARCIS (Netherlands)

    A-S. Jannot (Anne-Sophie); A. Pelet (Anna); A. Henrion-Caude (Alexandra); A. Chaoui (Asma); M. Masse-Morel (Marine); S. Arnold (Stacey); D. Sanlaville (Damien); I. Ceccherini (Isabella); S. Borrego (Salud); R.M.W. Hofstra (Robert); A. Munnich (Arnold); N. Bondurand (Nadège); A. Chakravarti (Aravinda); F. Clerget-Darpoux (Françoise); J. Amiel (Jeanne); S. Lyonnet (Stanislas)

    2013-01-01

    textabstractHirschsprung disease (HSCR) genetics is a paradigm for the study and understanding of multigenic disorders. Association between Down syndrome and HSCR suggests that genetic factors that predispose to HSCR map to chromosome 21. To identify these additional factors, we performed a dose-dep

  16. Adult height, coronary heart disease and stroke : a multi-locus Mendelian randomization meta-analysis

    NARCIS (Netherlands)

    Nüesch, Eveline; Dale, Caroline; Palmer, Tom M; White, Jon; Keating, Brendan J; van Iperen, Erik Pa; Goel, Anuj; Padmanabhan, Sandosh; Asselbergs, Folkert W; Verschuren, W M; Wijmenga, C; Van der Schouw, Y T; Onland-Moret, N C; Lange, Leslie A; Hovingh, G K; Sivapalaratnam, Suthesh; Morris, Richard W; Whincup, Peter H; Wannamethe, Goya S; Gaunt, Tom R; Ebrahim, Shah; Steel, Laura; Nair, Nikhil; Reiner, Alexander P; Kooperberg, Charles; Wilson, James F; Bolton, Jennifer L; McLachlan, Stela; Price, Jacqueline F; Strachan, Mark Wj; Robertson, Christine M; Kleber, Marcus E; Delgado, Graciela; März, Winfried; Melander, Olle; Dominiczak, Anna F; Farrall, Martin; Watkins, Hugh; Leusink, Maarten; Maitland-van der Zee, Anke H; de Groot, Mark Ch; Dudbridge, Frank; Hingorani, Aroon; Ben-Shlomo, Yoav; Lawlor, Debbie A; Amuzu, A; Caufield, M; Cavadino, A; Cooper, J; Davies, T L; Drenos, F; Engmann, J; Finan, C; Giambartolomei, C; Hardy, R; Humphries, S E; Hypponen, E; Kivimaki, M; Kuh, D; Kumari, M; Ong, K; Plagnol, V; Power, C; Richards, M; Shah, S; Shah, T; Sofat, R; Talmud, P J; Wareham, N; Warren, H; Whittaker, J C; Wong, A; Zabaneh, D; Davey Smith, George; Wells, Jonathan C; Leon, David A; Holmes, Michael V; Casas, Juan P

    2015-01-01

    BACKGROUND: We investigated causal effect of completed growth, measured by adult height, on coronary heart disease (CHD), stroke and cardiovascular traits, using instrumental variable (IV) Mendelian randomization meta-analysis. METHODS: We developed an allele score based on 69 single nucleotide poly

  17. A novel Alzheimer disease locus located near the gene encoding tau protein

    NARCIS (Netherlands)

    Y. Jun (Yang); C.A. Ibrahim-Verbaas (Carla); M. Vronskaya; J.-C. Lambert; J. Chung; A.C. Naj (Adam); B. Kunkle (Brian); L.-S. Wang; J.C. Bis (Joshua); C. Bellenguez (Céline); D. Harold (Denise); K.L. Lunetta (Kathryn); A.L. DeStefano (Anita L.); B. Grenier-Boley (Benjamin); R. Sims (Rebecca); G.W. Beecham; A.V. Smith; V. Chouraki (Vincent); K.L. Hamilton-Nelson (Kara); M.A. Ikram (Arfan); N. Fiévet (Nathalie); N. Denning (Nicola); E.R. Martin; H. Schmidt; Y. Kamatani; M.L. Dunstan; O. Valladares (Otto); A.R. Laza; D. Zelenika (Diana); A. Ramirez; T. Foroud (Tatiana); S.-H. Choi (Seung-Hoan); A. Boland; T. Becker; W.A. Kukull; S. van der Lee (Sven); F. Pasquier (Florence); C. Cruchaga (Carlos); D. Beekly (Duane); A.L. Fitzpatrick (Annette); O. Hanon (Olivier); M. Gill; R. Barber (Rachel); V. Gudnason (Vilmundur); D. Campion; S. Love; D.A. Bennett (David A.); N. Amin; C. Berr (Claudine); M. Tsolaki (Magda); J.D. Buxbaum; O.L. Lopez; V. Deramecourt (Vincent); N.C. Fox; L.B. Cantwell (Laura B.); L. Tárraga (L.); C. Dufouil (Carole); J. Hardy; L.M.A. Crane; G. Eiriksdottir (Gudny); D. Hannequin (Didier); R. Clarke (Robert); D. Evans; T.H. Mosley (Thomas H.); L. Letenneur; C. Brayne (Carol); W. Maier; P. De Jager; V. Emilsson (Valur); J.-F. Dartigues (Jean-François); H. Hampel; M.I. Kamboh (M. Ilyas); R.F.A.G. de Bruijn (Renée); C. Tzourio (Christophe); P. Pastor (Pau); E.B. Larson (Eric B.); J.I. Rotter; M.C. O'donovan (Michael); T.J. Montine (Thomas J.); M.A. Nalls (Michael); S. Mead (Simon); E.M. Reiman (Eric); P.V. Jonsson; C. Holmes; P.H. St George-Hyslop; M. Boada (Mercè); P. Passmore (Peter); A. Wendland (Annika); R. Schmidt; K. Morgan (Kevin); A.R. Winslow; J.F. Powell; M. Carasquillo; S. Younkin; M. Jakobsdottir (Margret); J.S.K. Kauwe; K.C. Wilhelmsen; D. Rujescu (Dan); M.M. Nöthen (Markus M.); A. Hofman (Albert); L. Jones (Louisa); J.L. Haines (Jonathan); B.M. Psaty (Bruce); C. Van Broeckhoven; P. Holmans; L.J. Launer (Lenore); R. Mayeux (Richard); M. Lathrop; A.M. Goate (Alison M.); V. Escott-Price (Valentina); S. Seshadri; M.A. Pericak-Vance (Margaret); P. Amouyel (Philippe); J. Williams; C.M. van Duijn (Cornelia M.); G.D. Schellenberg (Gerard D.); L.A. Farrer (Lindsay)

    2016-01-01

    textabstractAPOE ε4, the most significant genetic risk factor for Alzheimer disease (AD), may mask effects of other loci. We re-analyzed genome-wide association study (GWAS) data from the International Genomics of Alzheimer's Project (IGAP) Consortium in APOE ε4+ (10 352 cases and 9207 controls) and

  18. Retinopathy and clinical outcomes in patients with type 2 diabetes mellitus, chronic kidney disease, and anemia

    NARCIS (Netherlands)

    Bello, Natalie A; Pfeffer, Marc A; Skali, Hicham; McGill, Janet B; Rossert, Jerome; Olson, Kurt A; Weinrauch, Larry; Cooper, Mark E; de Zeeuw, Dick; Rossing, Peter; McMurray, John J V; Solomon, Scott D

    2014-01-01

    OBJECTIVE: Retinopathy is an established microvascular complication of type 2 diabetes mellitus (T2DM), but its independent relationship with macrovascular and other microvascular complications is less well defined across the spectrum of kidney disease in T2DM. We examined the prognostic value of re

  19. Hereditary sideroblastic anemia: pathophysiology and gene mutations.

    Science.gov (United States)

    Harigae, Hideo; Furuyama, Kazumichi

    2010-10-01

    Sideroblastic anemia is characterized by anemia with the emergence of ring sideroblasts in the bone marrow. Ring sideroblasts are erythroblasts characterized by iron accumulation in perinuclear mitochondria due to impaired iron utilization. There are two forms of sideroblastic anemia, i.e., inherited and acquired sideroblastic anemia. Inherited sideroblastic anemia is a rare and heterogeneous disease caused by mutations of genes involved in heme biosynthesis, iron-sulfur (Fe-S) cluster biogenesis, or Fe-S cluster transport, and mitochondrial metabolism. The most common inherited sideroblastic anemia is X-linked sideroblastic anemia (XLSA) caused by mutations of the erythroid-specific δ-aminolevulinate synthase gene (ALAS2), which is the first enzyme of heme biosynthesis in erythroid cells. Sideroblastic anemia due to SLC25A38 gene mutations, which is a mitochondrial transporter, is the next most common inherited sideroblastic anemia. Other forms of inherited sideroblastic anemia are very rare, and accompanied by impaired function of organs other than hematopoietic tissue, such as the nervous system, muscle, or exocrine glands due to impaired mitochondrial metabolism. Moreover, there are still significant numbers of cases with genetically undefined inherited sideroblastic anemia. Molecular analysis of these cases will contribute not only to the development of effective treatment, but also to the understanding of mitochondrial iron metabolism.

  20. The influence of IS1301 in the capsule biosynthesis locus on meningococcal carriage and disease.

    Directory of Open Access Journals (Sweden)

    Elisabeth Kugelberg

    Full Text Available Previously we have shown that insertion of IS1301 in the sia/ctr intergenic region (IGR of serogroup C Neisseria meningitidis (MenC isolates from Spain confers increased resistance against complement-mediated killing. Here we investigate the significance of IS1301 in the same location in N. meningitidis isolates from the UK. PCR and sequencing was used to screen a collection of more than 1500 meningococcal carriage and disease isolates from the UK for the presence of IS1301 in the IGR. IS1301 was not identified in the IGR among vaccine failure strains but was frequently found in serogroup B isolates (MenB from clonal complex 269 (cc269. Almost all IS1301 insertions in cc269 were associated with novel polymorphisms, and did not change capsule expression or resistance to human complement. After excluding sequence types (STs distant from the central genotype within cc269, there was no significant difference for the presence of IS1301 in the IGR of carriage isolates compared to disease isolates. Isolates with insertion of IS1301 in the IGR are not responsible for MenC disease in UK vaccine failures. Novel polymorphisms associated with IS1301 in the IGR of UK MenB isolates do not lead to the resistance phenotype seen for IS1301 in the IGR of MenC isolates.

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

    Directory of Open Access Journals (Sweden)

    R A Bolarinwa

    2012-01-01

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

  2. Cardio-renal-anemia syndrome: A report of three cases

    Directory of Open Access Journals (Sweden)

    U H Okafor

    2012-01-01

    Full Text Available Patients with chronic kidney diseases (CKDs and cardiovascular diseases (CVDs present with various degree of anemia. Anemia has been associated with poor outcome in patients with CKD and CVD. CVD is the commonest cause of morbidity and mortality in patients with CKD. CKD causes anemia and CVD, and this rapidly deteriorates when anemia is not corrected. This triad of CVD, CKD, and anemia has been termed cardio-renal-anemia syndrome. The objec-tive of this study is to highlight the importance of cardio-renal-anemia syndrome, their relation-ship, and management. Three patients with various stages of CKD who presented with anemia and cardiovascular abnormalities are reported. The patients responded well to various interventional measures, with improvement in their clinical and laboratory parameters. Cardio-renal-anemia syndrome is an entity that should be identified. Early and appropriate intervention leads to better outcome.

  3. Anemia in Pregnancy

    OpenAIRE

    Umran Kucukgoz Gulec; Fatma Tuncay Ozgunen; Ismail Cuneyt Evruke; Suleyman Cansun Demir

    2013-01-01

    Iron deficiency anemia (IDA) is the most frequent form of anemia in pregnant women. Folic acid, vitamin B12 deficiency, and hemoglobinopathies are other causes of anemia in pregnancy. Finding the underlying cause are crucial to the management of the anemia. Anemia is defined as hemoglobin of

  4. Pulse pressure is not an independent predictor of outcome in type 2 diabetes patients with chronic kidney disease and anemia--the Trial to Reduce Cardiovascular Events with Aranesp Therapy (TREAT)

    DEFF Research Database (Denmark)

    Theilade, S; Claggett, B; Hansen, T W

    2016-01-01

    Pulse pressure (PP) remains an elusive cardiovascular risk factor with inconsistent findings. We clarified the prognostic value in patients with type 2 diabetes, chronic kidney disease (CKD) and anemia in the Trial to Reduce cardiovascular Events with Aranesp (darbepoetin alfa) Therapy. In 4038......, CKD and anemia, PP did not independently predict cardiovascular events or ESRD. This may reflect confounding by aggressive antihypertensive treatment, or PP may be too rough a risk marker in these high-risk patients....

  5. Clinical patterns and hematological spectrum in autoimmune hemolytic anemia

    Directory of Open Access Journals (Sweden)

    Vanamala Alwar

    2010-01-01

    Conclusion :AIHAs have a female predilection and commonly present with symptoms of anemia. AIHA secondary to other diseases (especially connective tissue disorders is more common. Primary AIHAs presented with severe anemia and laboratory evidence of marked hemolysis.

  6. Response of Iron Deficiency Anemia to Intravenous Iron Sucrose in Pediatric Inflammatory Bowel Disease

    Science.gov (United States)

    2016-01-01

    OBJECTIVES: The objective of this retrospective study was to evaluate the safety and efficacy of intravenous iron sucrose (IS) in iron deficient children with inflammatory bowel disease (IBD) in remission. METHODS: Electronic medical records at a university based pediatric children's hospital were searched for patients in age range 0 to 18 years with diagnosis of IBD and treatment with IS over a 1-year period. Response to IS treatment was assessed by posttreatment changes in ferritin, hemoglobin (Hb), and mean corpuscular volume (MCV). Patients with recorded symptoms of active disease were excluded from analysis of treatment response. RESULTS: Twelve patients were identified by the search criteria, 10 with Crohn's disease (CD), 2 with ulcerative colitis (UC). Data represent 8 patients in remission, 7 with CD and 1 with UC, who received a total of 34 IS infusions. Iron sucrose was administered in cycles of 2 infusions, 2.5 to 3.5 mg/kg/dose (maximum 200 mg), 1 week apart. Mean ferritin increased from 21.4 ± 9.2 to 52.9 ± 10.1 ng/mL (p = 0.0005), Hb from 10.9 ± 0.4 to 11.3 ± 0.3 g/dL (p = 0.02), and MCV from 76.9 ± 2 to 79.4 ± 2 fl (p = 0.006). Iron sucrose treatment normalized ferritin in 6 of 7, Hb in 2 of 8, and MCV in 2 of 5 patients with low pretreatment levels. No adverse effects were recorded. CONCLUSIONS: Two IS infusions of 2.5 to 3.5 mg/kg/dose (maximum 200 mg), given 1 week apart normalized ferritin levels in most pediatric IBD patients in remission without adverse effects. Further studies are needed to determine optimal dosing schedules. PMID:27199624

  7. Null alleles at the Huntington disease locus: implications for diagnostics and CAG repeat instability.

    Science.gov (United States)

    Williams, L C; Hegde, M R; Nagappan, R; Faull, R L; Giles, J; Winship, I; Snow, K; Love, D R

    2000-01-01

    PCR amplification of the CAG repeat in exon 1 of the IT15 gene is routinely undertaken to confirm a clinical diagnosis of Huntington disease (HD) and to provide predictive testing for at-risk relatives of affected individuals. Our studies have detected null alleles on the chromosome carrying the expanded repeat in three of 91 apparently unrelated HD families. Sequence analysis of these alleles has revealed the same mutation event, leading to the juxtaposition of uninterrupted CAG and CCG repeats. These data suggest that a mutation-prone region exists in the IT15 gene bounded by the CAG and CCG repeats and that caution should be exercised in designing primers that anneal to the region bounded by these repeats. Two of the HD families segregated null alleles with expanded uninterrupted CAG repeats at the lower end of the zone of reduced penetrance. The expanded repeats are meiotically unstable in these families, although this instability is within a small range of repeat lengths. The haplotypes of the disease-causing chromosomes in these two families differ, only one of which is similar to that reported previously as being specific for new HD mutations. Finally, no apparent mitotic instability of the uninterrupted CAG repeat was observed in the brain of one of the HD individuals.

  8. Disease-corrected haematopoietic progenitors from Fanconi anemia induced pluripotent stem cells

    OpenAIRE

    Raya, Ángel; Rodríguez-Pizà, Ignasi; Guenechea, Guillermo; Vassena, Rita; Navarro, Susana; Barrero, María José; Consiglio, Antonella; Castellà, Maria; Río, Paula; Sleep, Eduard; González, Federico; Tiscornia, Gustavo; Garreta, Elena; Aasen, Trond; Veiga, Anna

    2009-01-01

    Premi a l'excel·lència investigadora. Àmbit de les Ciències de la Salut. 2010 The generation of induced pluripotent stem (iPS) cells by ectopic expression of a defined set of factors1-5 has enabled the derivation of patient-specific pluripotent cells and provided valuable experimental platforms to model human disease6-8. Patientspecific iPS cells are also thought to hold great therapeutic potential, although direct evidence for this is still lacking. Here we show that somatic cells from Fa...

  9. Disease-related growth factor and embryonic signaling pathways modulate an enhancer of TCF21 expression at the 6q23.2 coronary heart disease locus.

    Directory of Open Access Journals (Sweden)

    Clint L Miller

    Full Text Available Coronary heart disease (CHD is the leading cause of mortality in both developed and developing countries worldwide. Genome-wide association studies (GWAS have now identified 46 independent susceptibility loci for CHD, however, the biological and disease-relevant mechanisms for these associations remain elusive. The large-scale meta-analysis of GWAS recently identified in Caucasians a CHD-associated locus at chromosome 6q23.2, a region containing the transcription factor TCF21 gene. TCF21 (Capsulin/Pod1/Epicardin is a member of the basic-helix-loop-helix (bHLH transcription factor family, and regulates cell fate decisions and differentiation in the developing coronary vasculature. Herein, we characterize a cis-regulatory mechanism by which the lead polymorphism rs12190287 disrupts an atypical activator protein 1 (AP-1 element, as demonstrated by allele-specific transcriptional regulation, transcription factor binding, and chromatin organization, leading to altered TCF21 expression. Further, this element is shown to mediate signaling through platelet-derived growth factor receptor beta (PDGFR-β and Wilms tumor 1 (WT1 pathways. A second disease allele identified in East Asians also appears to disrupt an AP-1-like element. Thus, both disease-related growth factor and embryonic signaling pathways may regulate CHD risk through two independent alleles at TCF21.

  10. Role of Complement in Autoimmune Hemolytic Anemia

    OpenAIRE

    Berentsen, Sigbjørn

    2015-01-01

    Summary The classification of autoimmune hemolytic anemias and the complement system are reviewed. In autoimmune hemolytic anemia of the warm antibody type, complement-mediated cell lysis is clinically relevant in a proportion of the patients but is hardly essential for hemolysis in most patients. Cold antibody-mediated autoimmune hemolytic anemias (primary cold agglutinin disease, secondary cold agglutinin syndrome and paroxysmal cold hemoglobinuria) are entirely complement-mediated disorder...

  11. Kcne2 deletion causes early-onset nonalcoholic fatty liver disease via iron deficiency anemia

    Science.gov (United States)

    Lee, Soo Min; Nguyen, Dara; Anand, Marie; Kant, Ritu; Köhncke, Clemens; Lisewski, Ulrike; Roepke, Torsten K.; Hu, Zhaoyang; Abbott, Geoffrey W.

    2016-01-01

    Nonalcoholic fatty liver disease (NAFLD) is an increasing health problem worldwide, with genetic, epigenetic, and environmental components. Here, we describe the first example of NAFLD caused by genetic disruption of a mammalian potassium channel subunit. Mice with germline deletion of the KCNE2 potassium channel β subunit exhibited NAFLD as early as postnatal day 7. Using mouse genetics, histology, liver damage assays and transcriptomics we discovered that iron deficiency arising from KCNE2-dependent achlorhydria is a major factor in early-onset NAFLD in Kcne2─/─ mice, while two other KCNE2-dependent defects did not initiate NAFLD. The findings uncover a novel genetic basis for NAFLD and an unexpected potential factor in human KCNE2-associated cardiovascular pathologies, including atherosclerosis. PMID:26984260

  12. Replication of GWAS Coding SNPs Implicates MMEL1 as a Potential Susceptibility Locus among Saudi Arabian Celiac Disease Patients

    Directory of Open Access Journals (Sweden)

    Omar I. Saadah

    2015-01-01

    Full Text Available Celiac disease (CD, a gluten intolerance disorder, was implicated to have 57 genetic susceptibility loci for Europeans but not for culturally and geographically distinct ethnic populations like Saudi Arabian CD patients. Therefore, we genotyped Saudi CD patients and healthy controls for three polymorphisms, that is, Phe196Ser in IRAK1, Trp262Arg in SH2B3, and Met518Thr in MMEL1 genes. Single locus analysis identified that carriers of the 518 Thr/Thr (MMEL1 genotype conferred a 1.6-fold increased disease risk compared to the noncarriers (OR = 2.6; 95% CI: 1.22–5.54; P<0.01. This significance persisted even under allelic (OR = 1.55; 95% CI: 1.05–2.28; P=0.02 and additive (OR = 0.35; 95% CI: 0.17–0.71; P=0.03 genetic models. However, frequencies for Trp262Arg (SH2B3 and Phe196Ser (IRAK1 polymorphisms were not significantly different between patients and controls. The overall best MDR model included Met518Thr and Trp262Arg polymorphisms, with a maximal testing accuracy of 64.1% and a maximal cross-validation consistency of 10 out of 10 (P=0.0156. Allelic distribution of the 518 Thr/Thr polymorphism in MMEL1 primarily suggests its independent and synergistic contribution towards CD susceptibility among Saudi patients. Lack of significant association of IRAK and SH2B3 gene polymorphisms in Saudi patients but their association in European groups suggests the genetic heterogeneity of CD.

  13. Association between NME8 locus polymorphism and cognitive decline, cerebrospinal fluid and neuroimaging biomarkers in Alzheimer's disease.

    Directory of Open Access Journals (Sweden)

    Ying Liu

    Full Text Available Recently, a large meta-analysis of five genome wide association studies (GWAS identified a novel locus (rs2718058 adjacent to NME8 that played a preventive role in Alzheimer's disease (AD. However, this link between the single nucleotide polymorphism (SNP rs2718058 and the pathology of AD have not been mentioned yet. Therefore, this study assessed the strength of association between the NME8 rs2718058 genotypes and AD-related measures including the cerebrospinal fluid (CSF amyloid beta, tau, P-tau concentrations, neuroimaging biomarkers and cognitive performance, in a large cohort from Alzheimer's Disease Neuroimaging Initiative (ADNI database. We used information of a total of 719 individuals, including 211 normal cognition (NC, 346 mild cognitive impairment (MCI and 162 AD. Although we didn't observe a positive relationship between rs2718058 and AD, it was significantly associated with several AD related endophenotypes. Among the normal cognitively normal participants, the minor allele G carriers showed significantly associated with higher CDRSB score than A allele carriers (P = 0.021. Occipital gyrus atrophy were significantly associated with NME8 genotype status (P = 0.002, with A allele carriers has more atrophy than the minor allele G carriers in AD patients; lateral ventricle (both right and left cerebral metabolic rate for glucose (CMRgl were significantly associated with NME8 genotype (P < 0.05, with GA genotype had higher metabolism than GG and AA genotypes in MCI group; the atrophic right hippocampus in 18 months is significantly different between the three group, with GG and AA genotypes had more hippocampus atrophy than GA genotypes in the whole group. Together, our results are consistent with the direction of previous research, suggesting that NME8 rs2718058 appears to play a role in lowering the brain neurodegeneration.

  14. Folate-deficiency anemia

    Science.gov (United States)

    ... medlineplus.gov/ency/article/000551.htm Folate-deficiency anemia To use the sharing features on this page, please enable JavaScript. Folate-deficiency anemia is a decrease in red blood cells (anemia) ...

  15. Anemia and Pregnancy

    Science.gov (United States)

    ... Advocacy Toolkit Home For Patients Blood Disorders Anemia Anemia and Pregnancy Your body goes through significant changes ... becoming anemic. back to top Is Pregnancy-Related Anemia Preventable? Good nutrition is the best way to ...

  16. Anemia - B12 deficiency

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/000574.htm Vitamin B12 deficiency anemia To use the sharing features on ... tissues. There are many types of anemia. Vitamin B12 deficiency anemia is a low red blood cell ...

  17. Vitamin Deficiency Anemia

    Science.gov (United States)

    Vitamin deficiency anemia Overview By Mayo Clinic Staff Vitamin deficiency anemia is a lack of healthy red ... you have lower than normal amounts of certain vitamins. Vitamins linked to vitamin deficiency anemia include folate, ...

  18. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Events Spokespeople Email Alerts E-Newsletters About NHLBI Organization NHLBI Director Budget, Planning, & Legislative Advisory Committees Jobs ... food. Overview Iron-deficiency anemia is a common type of anemia . The term "anemia" usually refers to ...

  19. Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations.

    Science.gov (United States)

    Fusco, Francesca; Pescatore, Alessandra; Bal, Elodie; Ghoul, Aida; Paciolla, Mariateresa; Lioi, Maria Brigida; D'Urso, Michele; Rabia, Smail Hadj; Bodemer, Christine; Bonnefont, Jean Paul; Munnich, Arnold; Miano, Maria Giuseppina; Smahi, Asma; Ursini, Matilde Valeria

    2008-05-01

    Mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG), also called nuclear factor-kappaB (NF-kB) essential modulator (NEMO), gene are the most common single cause of incontinentia pigmenti (IP) in females and anhydrotic ectodermal dysplasia with immunodeficiency (EDA-ID) in males. The IKBKG gene, located in the Xq28 chromosomal region, encodes for the regulatory subunit of the inhibitor of kappaB (IkB) kinase (IKK) complex required for the activation of the NF-kB pathway. Therefore, the remarkably heterogeneous and often severe clinical presentation reported in IP is due to the pleiotropic role of this signaling transcription pathway. A recurrent exon 4_10 genomic rearrangement in the IKBKG gene accounts for 60 to 80% of IP-causing mutations. Besides the IKBKG rearrangement found in IP females (which is lethal in males), a total of 69 different small mutations (missense, frameshift, nonsense, and splice-site mutations) have been reported, including 13 novel ones in this work. The updated distribution of all the IP- and EDA-ID-causing mutations along the IKBKG gene highlights a secondary hotspot mutation in exon 10, which contains only 11% of the protein. Furthermore, familial inheritance analysis revealed an unexpectedly high incidence of sporadic cases (>65%). The sum of the observations can aid both in determining the molecular basis of IP and EDA-ID allelic diseases, and in genetic counseling in affected families.

  20. Parenteral iron compounds: potent oxidants but mainstays of anemia management in chronic renal disease.

    Science.gov (United States)

    Zager, Richard A

    2006-09-01

    Ferric iron (Fe)-carbohydrate complexes are widely used for treating Fe deficiency in patients who are unable to meet their Fe requirements with oral supplements. Intravenous Fe generally is well tolerated and effective in correcting Fe-deficient states. However, the complexing of Fe to carbohydrate polymers does not block its potent pro-oxidant effects; systemic free radical generation and, possibly, tissue damage may result. The purpose of this review is to (1) underscore the capacity of currently used parenteral Fe formulations to induce oxidative stress, (2) compare the severity of these oxidant reactions with those that result from unshielded Fe salts and with each other, and (3) speculate as to the potential of these agents to induce acute renal cell injury and augment systemic inflammatory responses. The experimental data that are reviewed should not be extrapolated to the clinical setting or be used for clinical decision making. Rather, it is hoped that the information provided herein may have utility for clinical hypothesis generation and, hence, future clinical studies. By so doing, a better understanding of Fe's potential protean effects on patients with renal disease may result.

  1. Genetic and functional identification of the likely causative variant for cholesterol gallstone disease at the ABCG5/8 lithogenic locus

    DEFF Research Database (Denmark)

    von Kampen, Oliver; Buch, Stephan; Nothnagel, Michael;

    2013-01-01

    The sterolin locus (ABCG5/ABCG8) confers susceptibility for cholesterol gallstone disease in humans. Both the responsible variant and the molecular mechanism causing an increased incidence of gallstones in these patients have as yet not been identified. Genetic mapping utilized patient samples from....... Transiently transfected HEK293 cells were used for [(3) H]-cholesterol export assays, analysis of protein expression, and localization of allelic constructs. Through fine mapping in German and Chilean samples, an ∼250 kB disease-associated interval could be defined for this locus. Lack of allelic imbalance...... linkage disequilibrium (r(2) = 0.95). [(3) H]-cholesterol export assays of allelic constructs harboring these genetic candidate variants demonstrated increased transport activity (3.2-fold, P = 0.003) only for the ABCG8-19H variant, which was also superior in nested logistic regression models in German (P...

  2. Unexplained Aspects of Anemia of Inflammation

    Directory of Open Access Journals (Sweden)

    Elizabeth A. Price

    2010-01-01

    Full Text Available Anemia of inflammation (AI, also known as anemia of chronic inflammation or anemia of chronic disease was described over 50 years ago as anemia in association with clinically overt inflammatory disease, and the findings of low plasma iron, decreased bone marrow sideroblasts and increased reticuloendothelial iron. Pathogenic features underlying AI include a mild shortening of red cell survival, impaired erythropoietin production, blunted responsiveness of the marrow to erythropoietin, and impaired iron metabolism mediated by inflammatory cytokines and the iron regulatory peptide, hepcidin. Despite marked recent advances in understanding AI, gaps remain, including understanding of the pathogenesis of AI associated with “noninflammatory” or mildly inflammatory diseases, the challenge of excluding iron deficiency anemia in the context of concomitant inflammation, and understanding more precisely the contributory role of hepcidin in the development of AI in human inflammatory diseases.

  3. APLASTIC ANEMIA ET CAUSA OF SUSPECT VIRAL HEPATITIS INFECTION: A CASE REPORT

    OpenAIRE

    I Wayan Wawan Lismana

    2014-01-01

    Aplastic anemia is anemia that occurs because of a failure of hematopoiesis is relatively rarebut can be life threatening. The cause of aplastic anemia itself is still largely unknown oridiopathic. Minority of cases mainly due to a virus infection, one of which is viral hepatitishas long been known to cause symptoms of aplastic anemia. This report discusses thesuspected aplastic anemia caused by hepatitis virus infection. Course of the disease or theprognosis of aplastic anemia varies, but a ...

  4. Classification of anemia for gastroenterologists.

    Science.gov (United States)

    Moreno Chulilla, Jose Antonio; Romero Colás, Maria Soledad; Gutiérrez Martín, Martín

    2009-10-07

    Most anemia is related to the digestive system by dietary deficiency, malabsorption, or chronic bleeding. We review the World Health Organization definition of anemia, its morphological classification (microcytic, macrocytic and normocytic) and pathogenic classification (regenerative and hypo regenerative), and integration of these classifications. Interpretation of laboratory tests is included, from the simplest (blood count, routine biochemistry) to the more specific (iron metabolism, vitamin B12, folic acid, reticulocytes, erythropoietin, bone marrow examination and Schilling test). In the text and various algorithms, we propose a hierarchical and logical way to reach a diagnosis as quickly as possible, by properly managing the medical interview, physical examination, appropriate laboratory tests, bone marrow examination, and other complementary tests. The prevalence is emphasized in all sections so that the gastroenterologist can direct the diagnosis to the most common diseases, although the tables also include rare diseases. Digestive diseases potentially causing anemia have been studied in preference, but other causes of anemia have been included in the text and tables. Primitive hematological diseases that cause anemia are only listed, but are not discussed in depth. The last section is dedicated to simplifying all items discussed above, using practical rules to guide diagnosis and medical care with the greatest economy of resources and time.

  5. Child with aplastic anemia: Anesthetic management

    Directory of Open Access Journals (Sweden)

    Manpreet Kaur

    2012-01-01

    Full Text Available Aplastic anemia is a rare heterogeneous disorder of hematopoietic stem cells causing pancytopenia and marrow hypoplasia with the depletion of all types of blood cells. This results in anemia, neutropenia and thrombocytopenia, which pose a challenge to both surgical and anesthetic management of such cases. We report a child with aplastic anemia who sustained traumatic ulcer on the arm and underwent split-thickness skin grafting under general anesthesia. There are only two case reports on anesthetic considerations in aplastic anemia patients in the literature. The anesthetic management is challenging because of the rarity of the disease, associated pancytopenia and immunosuppression.

  6. Albuminuria as a Risk Factor for Anemia in Chronic Kidney Disease: Result from the KoreaN Cohort Study for Outcomes in Patients With Chronic Kidney Disease (KNOW-CKD.

    Directory of Open Access Journals (Sweden)

    Ji Suk Han

    Full Text Available Anemia is a common complication among patients with chronic kidney disease (CKD, and it is associated with unfavorable clinical outcomes in patients with CKD independent of the estimated glomerular filtration rate (eGFR. We assessed the association of the urinary albumin-to-creatinine ratio (ACR and eGFR with anemia in CKD patients.We conducted a cross-sectional study using baseline data from the KoreaN Cohort Study for Outcome in Patients With Chronic Kidney Disease (KNOW-CKD. Multiple regression analysis was performed to identify the independent association of albuminuria with anemia. Furthermore, odds ratios for anemia were calculated by cross-categorization of ACR and eGFR.Among 1,456 patients, the mean age was 53.5 ± 12.4 years, and the mean eGFR and ACR were 51.9 ± 30.5 mL/min per 1.73 m2 and 853.2 ± 1,330.3 mg/g, respectively. Anemia was present in 644 patients (40.5%. Multivariate analysis showed that the odds ratio of anemia increased according to ACR levels, after adjusting for age, sex, eGFR, body mass index, pulse pressure, cause of CKD, use of erythropoiesis stimulating agents, serum calcium and ferritin (ACR < 30 mg/g as a reference group; 30-299 mg/g, adjusted odds ratio (OR = 1.43, 95% confidence interval (CI = 0.88-2.33; ≥300 mg/g, adjusted OR = 1.86, 95% CI = 1.12-3.10. In addition, graded associations were observed in cross-categorized groups of a higher ACR and eGFR compared to the reference group with an ACR <30 mg/g and eGFR ≥60 mL/min per 1.73 m2.The present study demonstrated that albuminuria was a significant risk factor for anemia in CKD patients independent of the eGFR.

  7. 小儿慢性肾脏病贫血的诊断与治疗%Diagnosis and treatment for anemia of chronic kidney disease in children

    Institute of Scientific and Technical Information of China (English)

    刘小荣

    2015-01-01

    小儿慢性肾脏病(CKD)贫血的产生存在多种原因,包括慢性肾功能不全导致的红细胞生成原料缺乏(铁、叶酸、维生素B12缺乏),红细胞寿命缩短和失血,以及尿毒素抑制骨髓红细胞生成等,但最主要的原因为慢性肾功能不全时肾脏促红细胞生成素生成减少.贫血影响组织氧的供应及利用和心排出量的增加,常表现疲倦、呼吸困难,导致心脏扩大、心室肥厚、心力衰竭、脑供血不全、认知功能下降、免疫功能损伤等一系列病理生理现象,影响患者的预后及生存质量.肾性贫血需要积极治疗,其与慢性肾衰竭患者的生存率及生活质量密切相关.现就小儿CKD肾性贫血的诊断,如何评估贫血、铁剂的治疗及红细胞生成刺激剂治疗的策略进行阐述.%There are many reasons for children with anemia of chronic kidney disease (CKD), such as chronic renal insufficiency due to lack of raw materies erythropoietin(iron,folic acid, vitamin B12 deficiency), shortening of the life of red blood cells and blood loss, bone marrow suppression by urine toxins such as erythropoietin.But the main reason is decreased production of renal erythropoietin accompanying chronic renal insufficiency.Anemia affects tissue's oxygen supply, utilization, and cardiac output, and patients often show a series of pathophysiology of immune dysfunction,such as fatigue, difficulty in breathing, enlargement of the hearts, ventricular hypertrophy, heart failure, cerebral insufficiency ,cognitive decline ,affecting the prognosis and quality of life of patients.Renal anemia requires aggressive treatment,which is closely related to the survival and quality of life in patients with chronic renal failure.This paper elaborates on the diagnosis of anemia in children with CKD, the evaluation strategies of anemia,iron therapy and erythropoiesis stimulating agents treatment.

  8. Warm autoimmune hemolytic anemia.

    Science.gov (United States)

    Naik, Rakhi

    2015-06-01

    Warm autoimmune hemolytic anemia (AIHA) is defined as the destruction of circulating red blood cells (RBCs) in the setting of anti-RBC autoantibodies that optimally react at 37°C. The pathophysiology of disease involves phagocytosis of autoantibody-coated RBCs in the spleen and complement-mediated hemolysis. Thus far, treatment is aimed at decreasing autoantibody production with immunosuppression or reducing phagocytosis of affected cells in the spleen. The role of complement inhibitors in warm AIHA has not been explored. This article addresses the diagnosis, etiology, and treatment of warm AIHA and highlights the role of complement in disease pathology.

  9. Survey of attitude of physicians on updates in the management of anemia in chronic kidney disease patients

    Directory of Open Access Journals (Sweden)

    Souqiyyeh Muhammad

    2009-01-01

    Full Text Available We aimed in this study to assess the opinion of medical directors of dialysis centers in the Kingdom of Saudi Arabia (KSA about updates of strategies for treatment of anemia in patients with chronic kidney disease (CKD. A questionnaire was sent to the medical directors of the 174 active dialysis centers in the KSA including centers under the Ministry of Health (MOH (67 %, the governmental non-MOH sector (12% and private hospitals (21 % that together care for a population of more than 11,300 chronic dialysis patients. The study was performed between November 2008 and March 2009. A total of 143 of the 174 (82.1% medical directors answered the questionnaire. This covered 9563 (84% dialysis patients in the KSA. There were 95 (68.8% respondents who believed that the mechanism of action of ESAs is due to both blood concentration and direct action on the stem cells that form red cells. Only 81 (57% respondents believed that the half-life of the short-acting ESAs is less than one day, 67 (46.9% believed the half-life of darbepoetin is 2-4 days, and 52 (36.6% believed the half-life of CERA is 5-10 days; 79 (55.6% respondents believed that the interval of dosing of darbepoetin is once biweekly, and 92 (71.9% believed that the interval of dosing of CERA is once a month. There were 110 (76.9% respondents who believed the CKD should receive a long-acting than short-acting ESAs for the more stable hemoglobin levels, 64 (44.8% believed that pharmacodynamics of the CERA are better than other ESAs and warrant its use over all of them, and 115 (80.6% believed that the target hemoglobin is 11-13 g/dL in CKD patients is well established. Finally, 65 (51.5% respondents would request more than 30% of the stock of ESAs in the future as short-acting ESAs vs 71 (55% for darbepoetin and 40 (37.4% for CERA. There were no statistically significant differences among the respondents according to their affiliations (MOH, non MOH and private sector on any of the issues in the

  10. Case 40. Misdiagnosis of refractory macrocytic anemia.

    Science.gov (United States)

    Stringaris, Kate; Bain, Barbara

    2008-11-01

    A diagnosis of myelodysplastic syndrome, refractory anemia subtype, was made in an elderly Indian woman on the basis of a refractory macrocytic anemia with normal vitamin B(12) and folate assays, normal thyroid function, essentially normal liver function and normal cytogenetic analysis. Disease evolution revealed that the diagnosis was erroneous.

  11. 9 CFR 311.34 - Anemia.

    Science.gov (United States)

    2010-01-01

    ... 9 Animals and Animal Products 2 2010-01-01 2010-01-01 false Anemia. 311.34 Section 311.34 Animals and Animal Products FOOD SAFETY AND INSPECTION SERVICE, DEPARTMENT OF AGRICULTURE AGENCY ORGANIZATION... CERTIFICATION DISPOSAL OF DISEASED OR OTHERWISE ADULTERATED CARCASSES AND PARTS § 311.34 Anemia. Carcasses...

  12. Syngeneic transplantation in aplastic anemia

    DEFF Research Database (Denmark)

    Gerull, Sabine; Stern, Martin; Apperley, Jane

    2013-01-01

    Aplastic anemia is usually treated with immunosuppression or allogeneic transplant, depending on patient and disease characteristics. Syngeneic transplant offers a rare treatment opportunity with minimal transplant-related mortality, and offers an insight into disease mechanisms. We present here...... a retrospective analysis of all syngeneic transplants for aplastic anemia reported to the European Group for Blood and Marrow Transplantation. Between 1976 and 2009, 88 patients received 113 transplants. Most transplants (n=85) were preceded by a conditioning regimen, 22 of these including anti-thymocyte globulin...

  13. [Anemia: guidelines comparison].

    Science.gov (United States)

    Del Vecchio, Lucia

    2009-01-01

    The development of recombinant human erythropoietin and its introduction into the market in the late 1980s has significantly improved the quality of life of patients with chronic kidney disease (CKD) and reduced the need for blood transfusions. Starting from a cautious target, a progressive increase in the recommended hemoglobin levels has been observed over the years, in parallel with an increase in the obtained levels. This trend has gone together with the publication of findings of observational studies showing a relationship between the increase in hemoglobin levels and a reduction in the mortality risk, with the conduction of clinical trials testing the effects of complete anemia correction, and with the compilation of guidelines on anemia control in CKD patients by scientific societies and organizations. In the last two years, evidence of a possible increase in the mortality risk in those patients who were randomized to high hemoglobin levels has resulted in a decrease in the upper limit of the recommended Hb target to be obtained with erythropoietin stimulating agents (ESA), and consequently in a narrowing of the target range. Comparison of guidelines on anemia control in CKD patients is an interesting starting point to discuss single recommendations, strengthen their importance, or suggest new topics of research to fill up important gaps in knowledge.

  14. Immune Hemolytic Anemia in a Patient with Tuberculous Lymphadenitis

    OpenAIRE

    Manjunath Nandennavar; Sanju Cyriac; Krishnakumar,; T G Sagar

    2011-01-01

    Anemia in tuberculosis is usually anemia of chronic disease. Severe hemolytic anemia is exceedingly rare in tuberculosis patients. We report a patient diagnosed with tubercular lymphadenitis complicated by Coomb′s positive hemolytic anemia. Patient responded well to antituberculous treatment. Hematological parameters improved after initiation of antituberculosis treatment. To the best of our knowledge, this is the first case from India of an adult patient with tuberculous lymphadenitis presen...

  15. Osteopetrosis: A rare cause of anemia - Review of literature

    Directory of Open Access Journals (Sweden)

    Saluja S

    2009-07-01

    Full Text Available Normocytic anaemia is caused either by hypoproliferation of haemopoietic tissue or increased destruction of red cell. Osteopetrosis is a rare cause of anaemia. The leading clinical features are pallor, growth failure, hepatosplenomegaly.On hematological examination, anemia, thrombocytopenia, leucocytosis and myelophthisic anemia are commonly observed in this disease. We are highlighting osteopetrosis as a rare cause of anemia presenting to us for evaluation of anemia

  16. Soluble transferrin receptor and transferrin receptor-ferritin index in iron deficiency anemia and anemia in rheumatoid arthritis.

    Science.gov (United States)

    Margetic, Sandra; Topic, Elizabeta; Ruzic, Dragica Ferenec; Kvaternik, Marina

    2005-01-01

    The aim of the study was to evaluate the clinical efficiency of soluble transferrin receptor and transferrin receptor-ferritin index (sTfR/logF) in the diagnosis of iron deficiency anemia, as well as the differential diagnosis of iron deficiency anemia and anemia in rheumatoid arthritis. The study included 96 patients with anemia and 61 healthy volunteers as a control group. In healthy subjects there were no significant sex and age differences in the parameters tested. The study results showed these parameters to be reliable in the diagnosis of iron deficiency anemia, as well as in the differential diagnosis of iron deficiency anemia and anemia of chronic disease. The results indicate that sTfR/logF could be used to help differentiate coexisting iron deficiency in patients with anemia of chronic disease. Receiver operating characteristic analysis showed a higher discriminating power of transferrin receptor-ferritin index vs. soluble transferrin receptor in the diagnosis of iron deficiency anemia, as well as in the differential diagnosis between iron deficiency anemia and anemia of chronic disease. In patients with anemia in rheumatoid arthritis, the parameters tested showed no significant differences with respect to C-reactive protein concentration. These results suggested that the parameters tested are not affected by acute or chronic inflammatory disease.

  17. Quantitation of Marek's disease and chicken anemia viruses in organs of experimentally infected chickens and commercial chickens by multiplex real-time PCR.

    Science.gov (United States)

    Davidson, Irit; Raibshtein, I; Al-Touri, A

    2013-06-01

    The worldwide distribution of chicken anemia virus (CAV) and Marek's disease virus (MDV) is well documented. In addition to their economic significance in single- or dual-virus infections, the two viruses can often accompany various other pathogens and affect poultry health either directly, by causing tumors, anemia, and delayed growth, or indirectly, by aggravating other diseases, as a result of their immunosuppressive effects. After a decade of employing the molecular diagnosis of those viruses, which replaced conventional virus isolation, we present the development of a real-time multiplex PCR for the simultaneous detection of both viruses. The real-time PCRs for MDV and for CAV alone are more sensitive than the respective end-point PCRs. In addition, the multiplex real-time shows a similar sensitivity when compared to the single real-time PCR for each virus. The newly developed real-time multiplex PCR is of importance in terms of the diagnosis and detection of low copies of each virus, MDV and CAV in single- and in multiple-virus infections, and its applicability will be further evaluated.

  18. Graves’ Disease Causing Pancytopenia and Autoimmune Hemolytic Anemia at Different Time Intervals: A Case Report and a Review of the Literature

    Directory of Open Access Journals (Sweden)

    Peyman Naji

    2013-01-01

    Full Text Available Graves’ disease (GD is associated with various hematologic abnormalities but pancytopenia and autoimmune hemolytic anemia (AIHA are reported very rarely. Herein, we report a patient with GD who had both of these rare complications at different time intervals, along with a review of the related literature. The patient was a 70-year-old man who, during a hospitalization, was also noted to have pancytopenia and elevated thyroid hormone levels. Complete hematologic workup was unremarkable and his pancytopenia was attributed to hyperthyroidism. He was started on methimazole but unfortunately did not return for followup and stopped methimazole after a few weeks. A year later, he presented with fatigue and weight loss. Labs showed hyperthyroidism and isolated anemia (hemoglobin 7 g/dL. He had positive direct Coombs test and elevated reticulocyte index. He was diagnosed with AIHA and started on glucocorticoids. GD was confirmed with elevated levels of thyroid stimulating immunoglobulins and thyroid uptake and scan. He was treated with methimazole and radioactive iodine ablation. His hemoglobin improved to 10.7 g/dL at discharge without blood transfusion. Graves’ disease should be considered in the differential diagnosis of hematologic abnormalities. These abnormalities in the setting of GD generally respond well to antithyroid treatment.

  19. Iron deficiency anemia in children.

    Science.gov (United States)

    Subramaniam, Girish; Girish, Meenakshi

    2015-06-01

    Iron deficiency is not just anemia; it can be responsible for a long list of other manifestations. This topic is of great importance, especially in infancy and early childhood, for a variety of reasons. Firstly, iron need is maximum in this period. Secondly, diet in infancy is usually deficient in iron. Thirdly and most importantly, iron deficiency at this age can result in neurodevelopmental and cognitive deficits, which may not be reversible. Hypochromia and microcytosis in a complete blood count (CBC) makes iron deficiency anemia (IDA) most likely diagnosis. Absence of response to iron should make us look for other differential diagnosis like β thalassemia trait and anemia of chronic disease. Celiac disease is the most important cause of true IDA not responding to oral iron therapy. While oral ferrous sulphate is the cheapest and most effective therapy for IDA, simple nonpharmacological and pharmacological measures can go a long way in prevention of iron deficiency.

  20. [Anemia in patients with rheumatoid arthritis].

    Science.gov (United States)

    Wahle, M

    2012-12-01

    One of the most frequent extra-articular organ manifestations in rheumatoid arthritis (RA) is anemia. As anemia in RA patients may result in severe symptoms and aggravation of other disease manifestations (e.g. arteriosclerosis), the influence on the course of RA is profound. However, the importance of anemia in RA patients is frequently underestimated. The etiology of anemia in RA is complex. Anemia of inflammation (AI) and iron deficiency anemia, alone or in combination are the most frequent forms of anemia in RA. Changes in iron metabolism are the leading causes of anemia in RA patients and mainly induced by the altered synthesis and function of hepcidin and ferroportin. Hepcidin, a peptide produced in the liver and immunocompetent cells, impairs the expression of ferroportin on iron-secreting cells, thus reducing iron bioavailability. The typical changes of iron metabolism and hepcidin synthesis in RA are induced by proinflammatory cytokines, primarily interleukin-6. Hence, the treatment of RA with cytokine antagonists has significant therapeutic implications on anemia in the context of inflammation and impaired iron metabolism.

  1. Safety and efficacy of PDpoetin for management of anemia in patients with end stage renal disease on maintenance hemodialysis: results from a phase IV clinical trial

    Directory of Open Access Journals (Sweden)

    Abbas Norouzi Javidan

    2014-09-01

    Full Text Available Recombinant human erythropoietin (rHuEPO is available for correcting anemia. PDpoetin, a new brand of rHuEPO, has been certified by Food and Drug Department of Ministry of Health and Medical Education of Iran for clinical use in patients with chronic kidney disease. We conducted this post-marketing survey to further evaluate the safety and efficacy of PDpoetin for management of anemia in patients on maintenance hemodialysis. Patients from 4 centers in Iran were enrolled for this multicenter, open-label, uncontrolled phase IV clinical trial. Changes in blood chemistry, hemoglobin and hematocrit levels, renal function, and other characteristics of the patients were recorded for 4 months; 501 of the patients recruited, completed this study. Mean age of the patients was 50.9 (±16.2 years. 48.7% of patients were female. Mean of the hemoglobin value in all of the 4 centers was 9.29 (±1.43 g/dL at beginning of the study and reached 10.96 (±2.23 g/dL after 4 months and showed significant increase overall (P<0.001. PDpoetin dose was stable at 50-100 U/kg thrice weekly. Hemorheologic disturbancesand changes in blood electrolytes was not observed. No case of immunological reactions to PDpoetin was observed. Our study, therefore, showed that PDpoetin has significantly raised the level of hemoglobin in the hemodialysis patients (about 1.7±0.6 g/dL. Anemia were successfully corrected in 49% of patients under study. Use of this biosimilar was shown to be safe and effective for the maintenance of hemoglobin in patients on maintenance hemodialysis.

  2. Evaluation of erythrocyte parameters and iron index for identifying chronic disease anemia and chronic systemic disease anemia%红细胞参数及铁指标鉴别慢性病贫血与慢性系统疾病性贫血的评价

    Institute of Scientific and Technical Information of China (English)

    张伟; 丁大朋

    2016-01-01

    目的:了解贫血红细胞参数中红细胞平均体积(MCV )、平均红细胞血红蛋白量(MCH )、平均血红蛋白浓度(MCHC)、红细胞分布宽度变异系数(RDW‐CV )和铁指标血清铁蛋白(SF)、血清铁(SI)、总铁结合力(TIBC)、未饱和铁结合力(UIBC)、铁饱和度(ISAT )对慢性病贫血(ACD)与慢性系统疾病性贫血鉴别诊断的临床价值。方法分别测定 ACD 组35例患者与慢性系统疾病性贫血组33例患者红细胞参数 MCV 、MCH 、MCHC 、RDW‐CV 和铁指标 SF 、SI 、TIBC 、UIBC 、ISAT ,两组比较采用非配对组间 t 检验,P<0.05为差异有统计学意义。结果 ACD 组与慢性系统疾病性贫血组比较,红细胞参数 MCV 、MCH显著减低(P<0.05),RDW‐CV 显著增高(P <0.05),MCHC 差异无统计学意义(P >0.05),铁指标 SI 、ISAT 显著减低(P <0.05),UIBC 显著增高(P<0.05),SF 、TIBC 差异无统计学意义(P >0.05)。结论联合红细胞参数及铁指标对 ACD 与慢性系统疾病性贫血鉴别有一定的临床价值。%Objective To investigate the clinical values of erythrocyte parameters (MCV ,MCH ,MCHC and RDW‐CV) and iron indices of serum iron protein (SF) ,serum iron (SI) ,total iron binding capacity (TIBC) and unsaturated iron binding force (UIBC) , iron saturation (ISAT) in the differentiation diagnosis of anemia of chronic disease(ACD) and chronic systemic disease anemia . Methods MCV ,MCH ,MCHC ,RDW‐CV ,SF ,SI ,TIBC ,UIBC and ISAT were detected in 35 cases of chronic disease anemia (ACD group) and 35 cases of chronic diseases anemia group .The comparison between the two groups adopted the non‐paired inter‐group t test with P< 0 .05 as the statistical difference .Results The levels of MCV and MCH in the ACD group were significantly lower compared with the chronic systemic disease anemia group ,the RDW‐CV level was increased

  3. Pathogenesis, diagnosis and treatment of anemia in inflammatory bowel disease%炎性肠病合并贫血的机制及其诊断与治疗

    Institute of Scientific and Technical Information of China (English)

    刘颂; 任建安

    2013-01-01

    Anemia is a common and severe complication in inflammatory bowel disease.Anemia can induce impaired cardiovascular and renal functions,and lead to a significantly decreased quality of life.This review is dedicated to explain the underlying mechanism,diagnosis and management of anemia in inflammatory bowel disease.%贫血是炎性肠病的常见并发疰之一.其发生机制多种多样,不仅损伤患者的心肾及血供功能,且可显著影响其生活质量.本文针对炎性肠病合并贫血的机理、诊断及其治疗措施进行详细阐述.

  4. Hepcidin measurement in the differential diagnosis of iron deficiency anemia and anemia of chronic disease%铁调素检测在缺铁性贫血与慢性贫血鉴别诊断中的价值

    Institute of Scientific and Technical Information of China (English)

    束婷婷

    2014-01-01

    目的:探讨铁调素(hepcidin)对缺铁性贫血(IDA )及慢性贫血(ACD)的鉴别诊断价值。方法采用 ELISA法检测78例体检健康人群(对照组)、40例ACD患者(ACD组)及49例IDA患者(IDA组)的血清铁调素水平。亚铁嗪比色法检测血清铁、总铁结合力水平(TIBC)。结果 IDA组血清铁调素水平低于体检组(P<0.05),ACD组铁调素水平高于对照组(P<0.05)。铁调素、血清铁、T IBC用于ACD与IDA患者鉴别诊断的ROC曲线下面积分别为0.97、0.66、0.85。结论铁调素为鉴别诊断IDA和ACD简单易行的方法,其诊断准确度优于血清铁和T IBC。%Objective To explore the value of hepcidin measurement in differential diagnosis of iron deficiency anemia(IDA) and anemia of chronic diseases(ACD) .Methods Serum hepcidin was measured by using ELISA .Serum iron(SI) and total iron binding capacity(TIBC) were determined by using Ferro zine colorimetric method .Results Hepcidin expression increased in ACD group (P<0 .05) ,but decreased in IDA group(P<0 .05) .The area under the curve of ROC for hepcidin ,SI and TIBC were 0 .97 ,0 .66 and 0 .85 respectively .Conclusion Hepcidin is a simple and safe indicator in differential diagnosis of IDA and ACD ,and its diagnos-tic accuracy is better than SI and TIBC .

  5. Mieloma Múltiplo e anemia Multiple Myeloma and anemia

    Directory of Open Access Journals (Sweden)

    Rodolfo D. Cançado

    2007-03-01

    Full Text Available Anemia é uma complicação comum em pacientes com mieloma múltiplo (MM e ocorre em mais de 2/3 dos pacientes. Anemia de doença crônica, deficiência de eritropoetina (EPO devido à insuficiência renal e efeito mielossupressivo da quimioterapia são os principais mecanismos patofisiológicos que contribuem para o desenvolvimento de anemia no MM. Nos pacientes que obtêm remissão completa com tratamento quimioterápico, anemia usualmente se normaliza. Nos pacientes que não respondem ou apresentam recaída do mieloma, anemia freqüentemente persiste. As opções de tratamento dos pacientes anêmicos com MM incluem transfusões de hemácias e EPO recombinante humana. Essa proteína é biologicamente equivalente à EPO endógena e sua administração promove aumento dos valores de hemoglobina por tempo mais prolongado sem os riscos das transfusões de sangue. Vários estudos têm relatado melhora significante da eritropoese, redução da necessidade transfusional e melhora da qualidade de vida com o uso da EPO como tratamento a longo prazo da anemia associada ao mieloma. Nesse artigo, propomos o tratamento da anemia do MM baseado nas recomendações propostas pela Sociedade Americana de Hematologia (ASH em conjunto com a Sociedade Americana de Oncologia Clínica (ASCO, pela Organização Européia para Pesquisa e Tratamento do Câncer (EORTC, pelo IMF (Internacional Myeloma Foundation e pelo NCCN (National Comprehensive Cancer Network.Anemia is a common complication in patients with multiple myeloma (MM occurring in more than two thirds of all patients. Anemia of chronic diseases, erythropoietin (EPO deficiency due to renal impairment and the myelosuppressive effect of chemotherapy are the most important pathophysiological mechanisms contributing to the development of anemia in MM. In patients who achieve complete remission after chemotherapy, anemia usually normalizes. Non-responders and relapsing myeloma patients often continue to suffer

  6. Development of mixed-type autoimmune hemolytic anemia and Evans' syndrome following chicken pox infection in a case of low-titer cold agglutinin disease.

    Science.gov (United States)

    Tanaka, Yumi; Masuya, Masahiro; Katayama, Naoyuki; Miyata, Eri; Sugimoto, Yuka; Shibasaki, Tetsunori; Yamamura, Kentaro; Ohishi, Kohshi; Minami, Nobuyuki; Shiku, Hiroshi; Nobori, Tsutomu

    2006-10-01

    We describe a patient with low-titer cold agglutinin disease (CAD) who developed mixed-type autoimmune hemolytic anemia (AIHA) and idiopathic thrombocytopenia following chicken pox infection. At least 1 year before admission to hospital, the patient had mild hemolytic anemia associated with low-titer cold agglutinins. A severe hemolytic crisis and thrombocytopenia (Evans' syndrome) occurred several days after infection with chicken pox, and the patient was referred to our hospital. Serological findings revealed the presence of both cold agglutinins and warm-reactive autoantibodies against erythrocytes, and the diagnosis was mixed-type AIHA. Following steroid therapy, the hemoglobin (Hb) level and platelet count improved. The patient was closely followed over a 10-year period with recurrent documented hemolysis after viral or bacterial infections. Warm-reactive autoantibodies have not been detected in the last 2 years, and only the immunoglobulin M anti-I cold agglutinins with a low titer and wide thermal amplitude have remained unchanged. Therefore, the patient has received at least 10 mg prednisolone daily to maintain a Hb level of 10 g/dL. To the best of our knowledge, no adult case of low-titer CAD that has evolved into mixed-type AIHA and Evans' syndrome after chicken pox infection has been previously reported in the literature.

  7. Cooley's Anemia: A Psychosocial Directory.

    Science.gov (United States)

    National Center for Education in Maternal and Child Health, Washington, DC.

    The directory is intended to aid patients and their families who are coping with the genetic disorder of Cooley's anemia. A brief review of the disease covers background, genetics, symptoms, effect on the patient, treatment, and current research. The next section looks at psychosocial needs at various times (time of diagnosis, infancy and toddler…

  8. Acquired aplastic anemia in children.

    Science.gov (United States)

    Hartung, Helge D; Olson, Timothy S; Bessler, Monica

    2013-12-01

    This article provides a practice-based and concise review of the etiology, diagnosis, and management of acquired aplastic anemia in children. Bone marrow transplantation, immunosuppressive therapy, and supportive care are discussed in detail. The aim is to provide the clinician with a better understanding of the disease and to offer guidelines for the management of children with this uncommon yet serious disorder.

  9. Anemia and performance status as prognostic markers in acute hypercapnic respiratory failure due to chronic obstructive pulmonary disease

    Directory of Open Access Journals (Sweden)

    Haja Mydin H

    2013-03-01

    Full Text Available Helmy Haja Mydin, Stephen Murphy, Howell Clague, Kishore Sridharan, Ian K TaylorDepartment of Respiratory Medicine, Sunderland Royal Infirmary, Sunderland, United KingdomBackground: In patients with acute hypercapnic respiratory failure (AHRF during exacerbations of COPD, mortality can be high despite noninvasive ventilation (NIV. For some, AHRF is terminal and NIV is inappropriate. However there is no definitive method of identifying patients who are unlikely to survive. The aim of this study was to identify factors associated with inpatient mortality from AHRF with respiratory acidosis due to COPD.Methods: COPD patients presenting with AHRF and who were treated with NIV were studied prospectively. The forced expiratory volume in 1 second (FEV1, World Health Organization performance status (WHO-PS, clinical observations, a composite physiological score (Early Warning Score, routine hematology and biochemistry, and arterial blood gases prior to commencing NIV, were recorded.Results: In total, 65 patients were included for study, 29 males and 36 females, with a mean age of 71 ± 10.5 years. Inpatient mortality in the group was 33.8%. Mortality at 30 days and 12 months after admission were 38.5% and 58.5%, respectively. On univariate analysis, the variables associated with inpatient death were: WHO-PS ≥ 3, long-term oxygen therapy, anemia, diastolic blood pressure < 70 mmHg, Early Warning Score ≥ 3, severe acidosis (pH < 7.20, and serum albumin < 35 g/L. On multivariate analysis, only anemia and WHO-PS ≥ 3 were significant. The presence of both predicted 68% of inpatient deaths, with a specificity of 98%.Conclusion: WHO-PS ≥ 3 and anemia are prognostic factors in AHRF with respiratory acidosis due to COPD. A combination of the two provides a simple method of identifying patients unlikely to benefit from NIV.Keywords: acute exacerbations of COPD, noninvasive ventilation, emphysema, prognostic markers

  10. Refining the localization of the PKD2 locus on chromosome 4q by linkage analysis in Spanish families with autosomal dominant polycystic kidney disease type 2

    Energy Technology Data Exchange (ETDEWEB)

    San Millan, J.L.; Viribay, M.; Peral, B.; Moreno, F. [Unidad de Genetica Molecular, Madrid (Spain); Martinez, I. [Hospital de Galdacano (Spain); Weissenbach, J. [Genethon, Evry (France)

    1995-01-01

    Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disorder. At least two distinct forms of ADPKD are now well defined. In {approximately}86% of affected European families, a gene defect localized to 16p13.3 was responsible for ADPKD, while a second locus has been recently localized to 4q13-q23 as candidate for the disease in the remaining families. We present confirmation of linkage to microsatellite markers on chromosome 4q in eight Spanish families with ADPKD, in which the disease was not linked to 16p13.3. By linkage analysis with marker D4S423, a maximum lod score of 9.03 at a recombination fraction of .00 was obtained. Multipoint linkage analysis, as well as a study of recombinant haplotypes, placed the PKD2 locus between D4S1542 and D4S1563, thereby defining a genetic interval of {approximately}1 cM. The refined map will serve as a genetic framework for additional genetic and physical mapping of the region and will improve the accuracy of presymptomatic diagnosis of PKD2. 25 refs., 4 figs., 1 tab.

  11. Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness.

    Directory of Open Access Journals (Sweden)

    Yi Lu

    2010-05-01

    Full Text Available Central corneal thickness (CCT, one of the most highly heritable human traits (h(2 typically>0.9, is important for the diagnosis of glaucoma and a potential risk factor for glaucoma susceptibility. We conducted genome-wide association studies in five cohorts from Australia and the United Kingdom (total N = 5058. Three cohorts were based on individually genotyped twin collections, with the remaining two cohorts genotyped on pooled samples from singletons with extreme trait values. The pooled sample findings were validated by individual genotyping the pooled samples together with additional samples also within extreme quantiles. We describe methods for efficient combined analysis of the results from these different study designs. We have identified and replicated quantitative trait loci on chromosomes 13 and 16 for association with CCT. The locus on chromosome 13 (nearest gene FOXO1 had an overall meta-analysis p-value for all the individually genotyped samples of 4.6x10(-10. The locus on chromosome 16 was associated with CCT with p = 8.95x10(-11. The nearest gene to the associated chromosome 16 SNPs was ZNF469, a locus recently implicated in Brittle Cornea Syndrome (BCS, a very rare disorder characterized by abnormal thin corneas. Our findings suggest that in addition to rare variants in ZNF469 underlying CCT variation in BCS patients, more common variants near this gene may contribute to CCT variation in the general population.

  12. Genetics Home Reference: thiamine-responsive megaloblastic anemia syndrome

    Science.gov (United States)

    ... Encyclopedia: Optic nerve atrophy Encyclopedia: Thiamine Health Topic: Anemia Health Topic: Diabetes Health Topic: Hearing Problems in Children Genetic and Rare Diseases Information Center (1 link) ...

  13. Complement in hemolytic anemia.

    Science.gov (United States)

    Brodsky, Robert A

    2015-01-01

    Complement is increasingly being recognized as an important driver of human disease, including many hemolytic anemias. Paroxysmal nocturnal hemoglobinuria (PNH) cells are susceptible to hemolysis because of a loss of the complement regulatory proteins CD59 and CD55. Patients with atypical hemolytic uremic syndrome (aHUS) develop a thrombotic microangiopathy (TMA) that in most cases is attributable to mutations that lead to activation of the alternative pathway of complement. For optimal therapy, it is critical, but often difficult, to distinguish aHUS from other TMAs, such as thrombotic thrombocytopenic purpura; however, novel bioassays are being developed. In cold agglutinin disease (CAD), immunoglobulin M autoantibodies fix complement on the surface of red cells, resulting in extravascular hemolysis by the reticuloendothelial system. Drugs that inhibit complement activation are increasingly being used to treat these diseases. This article discusses the pathophysiology, diagnosis, and therapy for PNH, aHUS, and CAD.

  14. Fanconi Anemia — Case Report of Rare Aplastic Anemia at Child

    Directory of Open Access Journals (Sweden)

    Deaconu Alina

    2014-06-01

    Full Text Available Introduction: Fanconi anemia is an autosomal recessive disease characterized by congenital abnormalities, defective haematopoiesis, and a high risk of developing acute myeloid leukaemia, myelodysplastic syndrome and cancers. FA was first described in 1927 by the Swiss pediatrician Guido Fanconi. The diagnosis is based on morphological abnormalities, hematologic abnormalities (pancytopenia, macrocytic anemia and progressive bone marrow failure and genetic tests (cariograma.

  15. 基于络病理论的再生障碍性贫血“络瘀致障”病机探讨%Pathogenesis Research of Collateral Stasis to Aplastic Anemia Based on the Theory of Collateral Disease

    Institute of Scientific and Technical Information of China (English)

    王海霞; 李琳; 田丛丛

    2013-01-01

      本文以络病理论为基础,对再生障碍性贫血的病机进行探讨,从“络瘀致障”来探讨其发病机制,力求揭示再障的病机规律,为再障的治疗寻求新的思路与方法。%This article is based on the theory of collateral disease, to explore the pathogenesis of aplastic anemia from collateral, and strive to reveal the the pathogenesis of aplastic anemia, and to seek the new ideas and methods for aplastic anemia treatment.

  16. Iron-deficiency anemia caused by a proton pump inhibitor.

    Science.gov (United States)

    Hashimoto, Rintaro; Matsuda, Tomoki; Chonan, Akimichi

    2014-01-01

    A 59-year-old man was orally administered rabeprazole, a proton pump inhibitor (PPI), for gastroesophageal reflux disease, after which he gradually developed iron-deficiency anemia. The anemia did not improve following the administration of ferrous fumarate, and endoscopic screening of the entire gastrointestinal tract, including the small intestine, did not reveal any findings indicating the cause of the anemia. The patient was then switched from rabeprazole to famotidine and the anemia was cured within three months. There is much debate as to whether the long-term use of PPIs causes iron-deficiency. However, this case strongly suggests that PPIs can induce iron-deficiency anemia.

  17. The Evidence-Based Evaluation of Iron Deficiency Anemia.

    Science.gov (United States)

    Hempel, Eliana V; Bollard, Edward R

    2016-09-01

    Anemia is a prevalent disease with multiple possible etiologies and resultant complications. Iron deficiency anemia is a common cause of anemia and is typically due to insufficient intake, poor absorption, or overt or occult blood loss. Distinguishing iron deficiency from other causes of anemia is integral to initiating the appropriate treatment. In addition, identifying the underlying cause of iron deficiency is also necessary to help guide management of these patients. We review the key components to an evidence-based, cost-conscious evaluation of suspected iron deficiency anemia.

  18. Generation of an induced pluripotent stem cell line that mimics the disease phenotypes from a patient with Fanconi anemia by conditional complementation

    Directory of Open Access Journals (Sweden)

    Sumitha Prameela Bharathan

    2017-04-01

    Full Text Available Generation of Fanconi anemia (FA patient-specific induced pluripotent stem cells (iPSCs has been reported to be technically challenging due to the defects in the FA-pathway in the patients' somatic cells. By inducible complementation of FA-pathway, we successfully reprogrammed the fibroblasts of an FA patient to iPSCs. CSCR19i-indCFANCA, one of the iPSC lines generated by the inducible complementation of FA-pathway, was extensively characterized for its pluripotency and karyotype. In the absence of doxycycline (DOX and FANCA expression, this line showed the cellular phenotypes of FA, suggesting it is an excellent tool for FA disease modeling and drug screening.

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

    Directory of Open Access Journals (Sweden)

    Mônica P. A. Veríssimo

    2007-09-01

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

  20. Comparison of two recombinant erythropoietin formulations in patients with anemia due to end-stage renal disease on hemodialysis: A parallel, randomized, double blind study

    Directory of Open Access Journals (Sweden)

    Ávila-Albuerne Yisel

    2005-05-01

    Full Text Available Abstract Background Recombinant human erythropoietin (EPO is used for the treatment of last stage renal anemia. A new EPO preparation was obtained in Cuba in order to make this treatment fully nationally available. The aim of this study was to compare the pharmacokinetic, pharmacodynamic and safety properties of two recombinant EPO formulations in patients with anemia due to end-stage renal disease on hemodialysis. Methods A parallel, randomized, double blind study was performed. A single 100 IU/Kg EPO dose was administered subcutaneously. Heberitro (Heber Biotec, Havana, formulation A, a newly developed product and Eprex (CILAG AG, Switzerland, formulation B, as reference treatment were compared. Thirty-four patients with anemia due to end-stage renal disease on hemodialysis were included. Patients had not received EPO previously. Serum EPO level was measured by enzyme immunoassay (EIA during 120 hours after administration. Clinical and laboratory variables were determined as pharmacodynamic and safety criteria until 216 hours. Results Both groups of patients were similar regarding all demographic and baseline characteristics. EPO kinetics profiles were similar for both formulations; the pharmacokinetic parameters were very close (i.e., AUC: 4667 vs. 4918 mIU.h/mL; Cmax: 119.1 vs. 119.7 mIU/mL; Tmax: 13.9 vs. 18.1 h; half-life, 20.0 vs. 22.5 h for formulations A and B, respectively. The 90% confidence intervals for the ratio between both products regarding these metrics were close to the 0.8 – 1.25 range, considered necessary for bioequivalence. Differences did not reach 20% in any case and were not determined by a formulation effect, but probably by a patients' variability effect. Concerning pharmacodynamic features, a high similitude in reticulocyte counts increments until 216 hours and the percentage decrease in serum iron until 120 hours was observed. There were no differences between formulations regarding the adverse events and their

  1. Comparison of two recombinant erythropoietin formulations in patients with anemia due to end-stage renal disease on hemodialysis: A parallel, randomized, double blind study

    Science.gov (United States)

    Pérez-Oliva, Jorge F; Casanova-González, Martha; García-García, Idrian; Porrero-Martín, Pedro J; Valenzuela-Silva, Carmen M; Hernández-Montero, Tairí; Lagarde-Ampudia, Marcia; Casanova-Kutsareva, Yuri; Ávila-Albuerne, Yisel; Vargas-Batista, Alicia; Bobillo-López, Hailen; Herrera-Valdés, Raúl; López-Saura, Pedro A

    2005-01-01

    Background Recombinant human erythropoietin (EPO) is used for the treatment of last stage renal anemia. A new EPO preparation was obtained in Cuba in order to make this treatment fully nationally available. The aim of this study was to compare the pharmacokinetic, pharmacodynamic and safety properties of two recombinant EPO formulations in patients with anemia due to end-stage renal disease on hemodialysis. Methods A parallel, randomized, double blind study was performed. A single 100 IU/Kg EPO dose was administered subcutaneously. Heberitro (Heber Biotec, Havana, formulation A), a newly developed product and Eprex (CILAG AG, Switzerland, formulation B), as reference treatment were compared. Thirty-four patients with anemia due to end-stage renal disease on hemodialysis were included. Patients had not received EPO previously. Serum EPO level was measured by enzyme immunoassay (EIA) during 120 hours after administration. Clinical and laboratory variables were determined as pharmacodynamic and safety criteria until 216 hours. Results Both groups of patients were similar regarding all demographic and baseline characteristics. EPO kinetics profiles were similar for both formulations; the pharmacokinetic parameters were very close (i.e., AUC: 4667 vs. 4918 mIU.h/mL; Cmax: 119.1 vs. 119.7 mIU/mL; Tmax: 13.9 vs. 18.1 h; half-life, 20.0 vs. 22.5 h for formulations A and B, respectively). The 90% confidence intervals for the ratio between both products regarding these metrics were close to the 0.8 – 1.25 range, considered necessary for bioequivalence. Differences did not reach 20% in any case and were not determined by a formulation effect, but probably by a patients' variability effect. Concerning pharmacodynamic features, a high similitude in reticulocyte counts increments until 216 hours and the percentage decrease in serum iron until 120 hours was observed. There were no differences between formulations regarding the adverse events and their intensity. The more

  2. Anemia in the Newborn

    Science.gov (United States)

    ... Doctor About Emotional Struggles Additional Content Medical News Anemia in the Newborn By Arthur E. Kopelman, MD, ... of Prematurity Necrotizing Enterocolitis (NEC) Jaundice in Newborns Anemia in the Newborn Polycythemia in the Newborn Thyroid ...

  3. [Common anemias in neonatology].

    Science.gov (United States)

    Humbert, J; Wacker, P

    1999-01-28

    We describe the four most common groups of neonatal anemia and their treatments, with particular emphasis on erythropoietin therapy. The hemolytic anemias include the ABO incompatibility (much more frequent, nowadays, than the Rh incompatibility, which has nearly disappeared following the use of anti-D immunoglobulin in postpartum Rh-negative mothers), hereditary spherocytosis and G-6-PD deficiency. Among hypoplastic anemias, that caused by Parvovirus B19 predominates, by far, over Diamond-Blackfan anemia, alpha-thalassemia and the rare sideroblastic anemias. "Hemorrhagic" anemias occur during twin-to-twin transfusions, or during feto-maternal transfusions. Finally, the multifactorial anemia of prematurity develops principally as a result of the rapid expansion of the blood volume in this group of patients. Erythropoietin therapy, often at doses much higher than those used in the adult, should be seriously considered in most cases of non-hypoplastic neonatal anemias, to minimise maximally the use of transfusions.

  4. The Anemias of Athletes.

    Science.gov (United States)

    Eichner, Edward R.

    1986-01-01

    Diagnosing anemia in athletes is complicated because athletes normally have a pseudoanemia that needs no treatment. Athletes, however, can develop anemia from iron deficiency or footstrike hemolysis, which require diagnosis and treatment. (Author/MT)

  5. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... or an inability to absorb enough iron from food. Overview Iron-deficiency anemia is a common type ... of the condition. Treatments may include dietary changes, medicines, and surgery. Severe iron-deficiency anemia may require ...

  6. Anemia hemolítica auto-imune e outras manifestações imunes da leucemia linfocítica crônica Autoimmune hemolytic anemia and other autoimmune diseases related to chronic lymphocytic leukemia

    Directory of Open Access Journals (Sweden)

    José O. Bordin

    2005-12-01

    Full Text Available A leucemia linfocítica crônica (LLC é freqüentemente associada a manifestações auto-imunes principalmente relacionadas às células do sistema hematopoético causando anemia hemolítica auto-imune (AHAI, púrpura trombocitopênica imune (PTI, aplasia pura de série vermelha (APSV, e neutropenia imune. A LLC é diagnosticada em até 15% dos pacientes com AHAI, e em cerca de 50% dos pacientes com AHAI secundária a doença maligna. A PTI ocorre em 2%, e a APSV em 1% dos pacientes com LLC. Prednisona é o tratamento inicial de escolha para a citopenia imune associada à LLC. Para cerca de 60% dos pacientes que apresentam recidiva da manifestação auto-imune tem sido utilizada esplenectomia, imunoglobulina endovenosa, ou ciclosporina. Embora as evidências sobre fisiopatologia sejam limitadas, os mecanismos fisiopatológicos da auto-imunidade na LLC estão relacionados à atividade dos linfócitos B leucêmicos que atuam como células apresentadoras de antígeno aberrantes, e são eficientes em processar e apresentar proteínas da membrana de hemácias e de plaquetas às células TH auto-reativas. Linfócitos TH específicos para certos auto-antígenos podem escapar de mecanismos de controle de auto-tolerância, e, se ativados, podem causar doença auto-imune. O diagnóstico de AHAI contra-indica o uso de fludarabina em pacientes com LLC, pois esse análogo da purina tem sido associado ao desenvolvimento de AHAI grave e fatal, com risco consideravelmente mais alto para pacientes mais imunossuprimidos devido a vários tratamentos anteriores.Chronic lymphocytic leukemia (CLL is frequently associated with autoimmune diseases directed against hematopoietic cells, including autoimmune hemolytic anemia (AIHA, immune thrombocytopenic purpura (ITP, pure red cell aplasia (PRCA, and immune neutropenia. CLL represents the diagnosis in up to 15% of the patients with AIHA, and in 50% of the patients with AIHA secondary to malignancy. ITP occurs in 2% and

  7. Profile of peginesatide and its potential for the treatment of anemia in adults with chronic kidney disease who are on dialysis

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    Mikhail A

    2012-05-01

    Full Text Available Ashraf MikhailRenal Unit, Morriston Hospital, Swansea University, Wales, UKAbstract: Peginesatide is a synthetic, dimeric peptide that is covalently linked to polyethylene glycol (PEG. The amino acid sequence of peginesatide is unrelated to that of erythropoietin (EPO and is not immunologically cross-reactive with EPO. Peginesatide binds to and activates the human EPO receptor, stimulating the proliferation and differentiation of human red cell precursors in vitro in a manner similar to other EPO-stimulating agents (ESAs. In Phase II and III studies in dialysis and predialysis patients, peginesatide administered once monthly was as effective as epoetin alfa given thrice weekly (dialysis patients or darbepoetin given once weekly (nondialysis patients, in correcting anemia of chronic kidney disease as well as maintaining hemoglobin within the desired target range. In the dialysis population, the reported side-effect profile of peginesatide was comparable to that known with other marketed ESAs. In the nondialysis studies, compared with those treated with darbepoetin, patients treated with peginesatide experienced a higher adverse-effect profile. Peginesatide is likely to be licensed for treatment of renal anemia in dialysis patients and not in nondialysis patients. Despite this limitation, peginesatide is likely to prove valuable in treating dialysis patients because of its infrequent mode of administration, thereby allowing for a reduced number of injections, with associated better compliance, reduced cold storage requirement, and improved stock accountability. PEGylated therapeutic proteins can elicit immunological response to the PEG moiety of the therapeutic complex. Only long-term experience and post-marketing surveillance will address whether this immunological response will have any impact on the clinical efficacy or safety of peginesatide in clinical practice.Keywords: peginesatide, dialysis, chronic kidney disease

  8. An antisense CAG repeat transcript at JPH3 locus mediates expanded polyglutamine protein toxicity in Huntington's disease-like 2 mice.

    Science.gov (United States)

    Wilburn, Brian; Rudnicki, Dobrila D; Zhao, Jing; Weitz, Tara Murphy; Cheng, Yin; Gu, Xiaofeng; Greiner, Erin; Park, Chang Sin; Wang, Nan; Sopher, Bryce L; La Spada, Albert R; Osmand, Alex; Margolis, Russell L; Sun, Yi E; Yang, X William

    2011-05-12

    Huntington's disease-like-2 (HDL2) is a phenocopy of Huntington's disease caused by CTG/CAG repeat expansion at the Junctophilin-3 (JPH3) locus. The mechanisms underlying HDL2 pathogenesis remain unclear. Here we developed a BAC transgenic mouse model of HDL2 (BAC-HDL2) that exhibits progressive motor deficits, selective neurodegenerative pathology, and ubiquitin-positive nuclear inclusions (NIs). Molecular analyses reveal a promoter at the transgene locus driving the expression of a CAG repeat transcript (HDL2-CAG) from the strand antisense to JPH3, which encodes an expanded polyglutamine (polyQ) protein. Importantly, BAC-HDL2 mice, but not control BAC mice, accumulate polyQ-containing NIs in a pattern strikingly similar to those in the patients. Furthermore, BAC mice with genetic silencing of the expanded CUG transcript still express HDL2-CAG transcript and manifest polyQ pathogenesis. Finally, studies of HDL2 mice and patients revealed CBP sequestration into NIs and evidence for interference of CBP-mediated transcriptional activation. These results suggest overlapping polyQ-mediated pathogenic mechanisms in HD and HDL2.

  9. The rs10757278 polymorphism of the 9p21.3 locus is associated with premature coronary artery disease in Polish patients.

    Science.gov (United States)

    Niemiec, Pawel; Gorczynska-Kosiorz, Sylwia; Iwanicki, Tomasz; Krauze, Jolanta; Trautsolt, Wanda; Grzeszczak, Wladyslaw; Bochenek, Andrzej; Zak, Iwona

    2012-09-01

    Recently, genome-wide association studies have revealed a locus associated with coronary artery disease (CAD) and myocardial infarction, namely, 9p21.3. Its participation in the conditioning of the disease has been proven in many populations of European descent, but not yet in Slavs. Allelic variants of the rs10757278 polymorphism functionally affect the activity of the 9p21.3 locus; therefore, we conducted a study to determine whether the rs10757278 is associated with premature CAD in Polish patients. We studied 320 subjects aged 25-55 years, divided into two groups matched by sex and age: (1) patients with angiographically proven premature CAD (n=160), and (2) blood donors as a control group (n=160). The rs10757278 was genotyped using the method of fluorescently labeled allele-specific oligonucleotides. The frequency of the G allele was significantly higher in patients than in controls (58.2% vs. 42.8%, respectively, p=0.011) and was similar to the frequency of the GG homozygotes (30.6% vs. 17.5%, respectively, p=0.006). Both the GG homozygosity (odds ratio [OR]=2.08, 95% confidence interval [CI]: 1.19-3.66) as well as the G allele (OR=1.49, 95% CI: 1.08-2.07) have been associated with CAD in the analyzed population. These variants may be considered as risk factors, also in the Polish population.

  10. Megaloblastic anemia in pregnancy.

    Science.gov (United States)

    Campbell, B A

    1995-09-01

    Megaloblastic anemia is one of the acquired nutritional anemias that may complicate pregnancy. It is most often secondary to folic acid deficiency because folate requirements are increased during gestation. When the diagnosis of megaloblastic anemia is confirmed, appropriate therapy will initiate a rapid reversal of the anemia process. Because of the association between neural tube defects and folate deficiency, it is recommended that women of reproductive age take folic acid supplementation.

  11. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... the NHLBI on Twitter. What Is Iron-Deficiency Anemia? Español Iron-deficiency anemia is a common, easily ... Featured Video Living With and Managing Iron-Deficiency Anemia 05/18/2011 This video—presented by the ...

  12. Iron deficiency anemia

    Science.gov (United States)

    Anemia - iron deficiency ... iron from old red blood cells. Iron deficiency anemia develops when your body's iron stores run low. ... You may have no symptoms if the anemia is mild. Most of the time, ... slowly. Symptoms may include: Feeling weak or tired more often ...

  13. Iron-Deficiency Anemia

    Science.gov (United States)

    ... the NHLBI on Twitter. What Is Iron-Deficiency Anemia? Español Iron-deficiency anemia is a common, easily ... Featured Video Living With and Managing Iron-Deficiency Anemia 05/18/2011 This video—presented by the ...

  14. Your Guide to Anemia

    Science.gov (United States)

    ... 19 Who Is At Risk for Iron-Deficiency Anemia? Infants and children. Getting enough iron is essential for normal growth ... checkup to see whether they also might have anemia. If you have children or teens who have anemia, talk to them ...

  15. Iron-Deficiency Anemia

    Science.gov (United States)

    ... page from the NHLBI on Twitter. What Is Iron-Deficiency Anemia? Español Iron-deficiency anemia is a common, ... Content: NEXT >> Featured Video Living With and Managing Iron-Deficiency Anemia 05/18/2011 This video—presented by ...

  16. Analysis of Anemia Factors and Significances in Crohn's Disease%克罗恩病患者贫血因素分析及其临床意义

    Institute of Scientific and Technical Information of China (English)

    刘嫦钦; 吴维; 邬瑞金; 陈腾飞; 翁韵; 赵玉洁; 夏玉敬; 汤茂春; 刘占举

    2013-01-01

    Background: The incidence of Crohn' s disease ( CD ) in China is increasing, and its accompanied disease such as anemia has received more attention. Aims: To investigate the anemia factors and their significances in CD patients. Methods: Forty CD patients from June 2011 to August 2012 at Shanghai Tenth People' s Hospital of Tongji University were enrolled. The levels of hemoglobin ( Hb ), serum iron, total iron binding capacity, folic acid, vitamin B12 between different subtypes of CD according to Montreal classification were compared, and the relationship of Crohn' s disease activity index ( CDAI )/CRP with Hb/serum iron was analyzed. Results: Of the 40 patients, anemia occurred in 34 patients ( 85.0% ). No significant differences in Hb, serum iron, total iron binding capacity, folic acid were found between patients with different subtypes of CD according to Montreal classification ( P = 0. 2061, P = 0. 2449, P = 0. 8007, P = 0. 8804 ), whereas significant difference was found in vitamin B12( P =0.0072 ). A negative correlation was found between CDAI/CRP and Hb/serum iron ( P < 0. 05 ). Conclusions: Patients with type LI and type L3 CD of Montreal classification have vitamin B12 -associated anemia, and the decrease of Hb and serum iron is correlated with the increase of inflammatory activity.%背景:我国克罗恩病(CD)的发病率日益增长,其伴随的疾病如贫血等正逐渐受到关注.目的:探讨CD患者贫血因素及其临床意义.方法:纳入2011年6月~2012年8月同济大学附属第十人民医院40例CD患者,比较不同蒙特利尔分型的患者之间血红蛋白(Hb)、血清铁、总铁结合力、叶酸、维生素B12水平,并分析克罗恩病活动指数(CDAI)、CRP水平与Hb、血清铁的相关性.结果:34例(85.0%)CD患者伴有贫血.不同蒙特利尔分型的CD患者之间Hb、血清铁、总铁结合力、叶酸水平无明显差异(P=0.2061,P=0.2449,P=0.8007,P=0.8804),而维生素B12水平差异有统计学意义(P=0

  17. Aggressive therapy of congestive heart failure and associated chronic renal failure with medications and correction of anemia stops or slows the progression of both diseases.

    Science.gov (United States)

    Silverberg, D S; Wexler, D; Blum, M; Sheps, D; Schwartz, D; Yachnin, T; Baruch, R; Tchebiner, J; Zubkov, A; Shaked, M; Steinbruch, S; Keren, G; Iaina, A

    2001-01-01

    The prevalence of congestive heart failure (CHF) is increasing rapidly in the community. We and others have shown that the prevalence and severity of both anemia and chronic renal failure (CRF) increase steadily with increasing severity of CHF. We have also shown that CHF patients may be resistant to standard drug therapy for CHF as long as the associated anemia is not corrected, and that correction of the anemia with subcutaneous erythropoietin and intravenous iron sucrose (Venofer: Vifor International, St. Gallen, Switzerland) may improve both the CHF and CRF and markedly reduce hospitalizations without causing side effects. We report here our experience with correcting anemia in this manner in 126 cases of anemic-resistant CHF patients. As in our previous studies, correction of the anemia improved both CHF and CRF, and reduced hospitalizations. Our studies suggest that correction of even mild anemia in CHF may be an important addition to the treatment of patients with the combination of CHF and CRF.

  18. Erythropoietin Levels in Elderly Patients with Anemia of Unknown Etiology.

    Directory of Open Access Journals (Sweden)

    Zachary Gowanlock

    Full Text Available In many elderly patients with anemia, a specific cause cannot be identified. This study investigates whether erythropoietin levels are inappropriately low in these cases of "anemia of unknown etiology" and whether this trend persists after accounting for confounders.This study includes all anemic patients over 60 years old who had erythropoietin measured between 2005 and 2013 at a single center. Three independent reviewers used defined criteria to assign each patient's anemia to one of ten etiologies: chronic kidney disease, iron deficiency, chronic disease, confirmed myelodysplastic syndrome (MDS, suspected MDS, vitamin B12 deficiency, folate deficiency, anemia of unknown etiology, other etiology, or multifactorial etiology. Iron deficiency anemia served as the comparison group in all analyses. We used linear regression to model the relationship between erythropoietin and the presence of each etiology, sequentially adding terms to the model to account for the hemoglobin concentration, estimated glomerular filtration rate (eGFR and Charlson Comorbidity Index.A total of 570 patients met the inclusion criteria. Linear regression analysis showed that erythropoietin levels in chronic kidney disease, anemia of chronic disease and anemia of unknown etiology were lower by 48%, 46% and 27%, respectively, compared to iron deficiency anemia even after adjusting for hemoglobin, eGFR and comorbidities.We have shown that erythropoietin levels are inappropriately low in anemia of unknown etiology, even after adjusting for confounders. This suggests that decreased erythropoietin production may play a key role in the pathogenesis of anemia of unknown etiology.

  19. Management of Iron Deficiency Anemia

    Science.gov (United States)

    Jimenez, Kristine; Kulnigg-Dabsch, Stefanie

    2015-01-01

    Anemia affects one-fourth of the world’s population, and iron deficiency is the predominant cause. Anemia is associated with chronic fatigue, impaired cognitive function, and diminished well-being. Patients with iron deficiency anemia of unknown etiology are frequently referred to a gastroenterologist because in the majority of cases the condition has a gastrointestinal origin. Proper management improves quality of life, alleviates the symptoms of iron deficiency, and reduces the need for blood transfusions. Treatment options include oral and intravenous iron therapy; however, the efficacy of oral iron is limited in certain gastrointestinal conditions, such as inflammatory bowel disease, celiac disease, and autoimmune gastritis. This article provides a critical summary of the diagnosis and treatment of iron deficiency anemia. In addition, it includes a management algorithm that can help the clinician determine which patients are in need of further gastrointestinal evaluation. This facilitates the identification and treatment of the underlying condition and avoids the unnecessary use of invasive methods and their associated risks. PMID:27099596

  20. Fine genetic mapping of the Batten disease locus (CLN3) by haplotype analysis and demonstration of allelic association with chromosome 16p microsatellite loci

    Energy Technology Data Exchange (ETDEWEB)

    Mitchison, H.M.; McKay, T.R. [Univ. College London Medical School (United Kingdom); Thompson, A.D.; Mulley, J.C.; Kozman, H.M.; Richards, R.I.; Callen, D.F. [Women and Children`s Hospital, Adelaide (Australia); Stallings, R.L.; Doggett, N.A. [Los Alamos National Lab., NM (United States); Attwood, J. [Galton Lab., London (United Kingdom)] [and others

    1993-05-01

    Batten disease, juvenile onset neuronal ceroid lipofuscinosis, is an autosomal recessive neurodegenerative disorder characterized by accumulation of autofluorescent lipopigment in neurons and other cell types. The disease locus (CLN3) has previously been assigned to chromosome 16p. The genetic localization of CLN3 has been refined by analyzing 70 families using a high-resolution map of 15 marker loci encompassing the CLN3 region on 16p. Crossovers in three maternal meioses allowed localization of CLN3 to the interval between D16S297 and D16S57. Within that interval alleles at three highly polymorphic dinucleotide repeat loci (D16S288, D16S298, D16S299) were found to be in strong linkage disequilibrium with CLN3. Analysis of haplotypes suggests that a majority of CLN3 chromosomes have arisen from a single founder mutation. 15 refs., 2 figs., 5 tabs.

  1. The cardio-renal anemia syndrome

    Directory of Open Access Journals (Sweden)

    Dimković Siniša

    2007-01-01

    Full Text Available Introduction. The problem of anemia in congestive heart failure and chronic kidney disease was thought to be insignificant for a long period of time. Recent investigations pointed out that the problem of anemia should be defined in the context of the cardio-renal anemia syndrome. A positive feedback mechanism indicates that cardio-renal anemia syndrome is due to an interaction between congestive heart failure, chronic renal failure and anemia. The aim of the study was to present the possible pathophysiological mechanisms of this syndrome, epidemiological characteristics and therapeutic results of the former investigations. Results. The results of the retrospective and prospective controlled trails have shown that management of anemia with subcutaneous administration of recombinant human erythropoietin together with intravenous iron infusion for at least 3-6 months lead to: relief of symptoms (improved NYHA functional class; increased left ventricular ejection fraction; reduced cardiovascular morbidity and mortality; reduced number of rehospitalizations; reduced requirements for usual therapeutic agents (especially diuretics; and improved renal function. Conclusion. In patients with heart and kidney disease anemia should be routinely identified and appropriately treated. Subcutaneous recombinant erythropoietin and intravenous iron may significantly improve overall survival and quality of life of these patients. .

  2. Stroke in patients with sickle cell disease: clinical and neurological aspects Acidente cerebrovascular em pacientes com anemia falciforme: aspectos clínicos e neurológicos

    Directory of Open Access Journals (Sweden)

    Carolina Camargo de Oliveira

    2008-03-01

    Full Text Available The aim of this study was to characterize a group of patients (n=8 with sickle cell disease (SCD and ischemic stroke concerning the clinical, neurological, imaging and progressive aspects. Data were collected from records and completed with an interview of patients and their parents. In this study there were 8 patients with ages ranging from 10 to 23 years old; SCD diagnosis was given between one and two years of age with clinical features of fatigue and anemia. The stroke was ischemic in all individuals and the first cerebrovascular event occurred before 6 years of age; 3 patients had recurrence of stroke despite prophylactic blood transfusion therapy and both cerebral hemispheres were affected in 4 patients. Clinical and neurological current features observed were: acute pain crises, sialorrhea, mouth breathing, motor, and neuropsychological impairments resulting from cortical-subcortical structure lesions.O objetivo deste estudo foi caracterizar um grupo de sujeitos (n=8 com antecedentes de anemia falciforme (AF e acidente vascular cerebral (AVC isquêmico, dos pontos de vista clínico, neurológico, radiológico e evolutivo, reavaliados através de exame neurológico e neuropsicológico. A partir de prontuários dos sujeitos com diagnóstico comprovado de AF e AVC, coletamos dados, complementados por entrevista com pacientes e responsáveis. Foram avaliados 8 pacientes; atualmente com idades entre 10 e 23 anos; diagnóstico da AF entre um e dois anos; quadro clínico de fraqueza e anemia. Em todos, o AVC foi isquêmico e o primeiro evento na maioria ocorreu antes dos 6 anos de idade; houve recorrência do AVC em 3, apesar da profilaxia com transfusão sanguínea; ambos os hemisférios afetados em 4; no quadro clínico e neurológico atual constatamos crises dolorosas, sialorréia, respiração oral e importante comprometimento motor e neuropsicológico, resultantes de lesões estruturais cortico-subcorticais.

  3. Role of Complement in Autoimmune Hemolytic Anemia.

    Science.gov (United States)

    Berentsen, Sigbjørn

    2015-09-01

    The classification of autoimmune hemolytic anemias and the complement system are reviewed. In autoimmune hemolytic anemia of the warm antibody type, complement-mediated cell lysis is clinically relevant in a proportion of the patients but is hardly essential for hemolysis in most patients. Cold antibody-mediated autoimmune hemolytic anemias (primary cold agglutinin disease, secondary cold agglutinin syndrome and paroxysmal cold hemoglobinuria) are entirely complement-mediated disorders. In cold agglutinin disease, efficient therapies have been developed in order to target the pathogenic B-cell clone, but complement modulation remains promising in some clinical situations. No established therapy exists for secondary cold agglutinin syndrome and paroxysmal cold hemoglobinuria, and the possibility of therapeutic complement inhibition is interesting. Currently, complement modulation is not clinically documented in any autoimmune hemolytic anemia. The most relevant candidate drugs and possible target levels of action are discussed.

  4. Cold agglutinin disease (CADwith autoimmune haemolytic anaemia: a case report of a coronary artery disease patient Doença por aglutininas a frio (DAC com anemia hemolítica auto-imune: relato de caso de um coronariopata

    Directory of Open Access Journals (Sweden)

    Leandro A. Barbosa

    2008-02-01

    Full Text Available Cold agglutinin disease (CAD with autoimmune haemolytic anemia is characterized by the production of harmful cold autoantibodies associated with increased red cell destruction during exposure to cold. The treatment of CAD is very difficult and a great effort is required to obtain therapeutic success. Cyclophosphamide is a potent immunosuppressive agent which is widely used in all bone marrow transplantation conditioning regimens for patients with acquired severe aplastic anemia. In this report, we describe the case of a coronary artery disease patient with severe CAD, but without lymphoproliferative disease, in which general measures and immunosuppressive therapies were adopted, there by avoiding blood transfusions.A doença por aglutininas a frio (CAD cursando com anemia hemolítica auto-imune (AHAI é decorrente da produção de autoanticorpos que reagem muito bem a baixas temperaturas, dirigidos contra hemácias autólogas. A habilidade desses anticorpos em destruir as hemácias encontra-se diretamente relacionada à sua capacidade em fixar complemento durante a exposição do paciente a baixas temperaturas. A AHAI por anticorpos frios pode ser idiopática - ausência de doença de base - ou secundária, geralmente associada a desordens linfoproliferativas de células B ou determinados processos infecciosos. A hemólise é intravascular, através de aglutininas da classe IgM, com teste direto da antiglobulina humana positivo para complemento. O tratamento da CAD é difícil, exigindo um esforço contínuo, necessário para se obter sucesso terapêutico. A ciclofosfamida é um agente imunossupressor potente, amplamente utilizado em transplantes de medula óssea, particularmente nos portadores de anemia aplástica. Descrevemos o caso de um coronariopata portador de CAD severa, cuja exploração diagnóstica excluiu doença linfoproliferativa. Adotamos medidas gerais de suporte e terapia imunossupressora, coibindo o uso de hemotransfusões.

  5. Sickle Cell Disease

    Science.gov (United States)

    ... sickle cell disease?Sickle cell disease, also called sickle cell anemia, is a hereditary condition (which means it runs ... disease, hemoglobin SS disease, hemoglobin synthesis, hemoglobinopathies, ... cell anemia, sickle cell crisis, vaso-occlusive crisis Family Health, ...

  6. [Neuropsychiatric manifestations ushering pernicious anemia].

    Science.gov (United States)

    Mrabet, S; Ellouze, F; Ellini, S; Mrad, M F

    2015-12-01

    Biermer disease or pernicious anemia is an autoimmune atrophic gastritis characterized by the lack of secretion of gastric intrinsic factor. This leads to an insufficient absorption of vitamin B12 in the ileum. Clinical manifestations are mainly hematologic. Neuropsychiatric manifestations are known but are less frequent especially early in the disease. Inaugural neuropsychiatric arrays are rare and various thus making diagnosis difficult. In this article, we report through two clinical cases different neuropsychiatric manifestations revealing pernicious anemia. Mrs. C.O., aged 56, presented after surgery for gallstones, an acute psychiatric array associated with gait disorders. She had no history of neurological or psychiatric problems. The psychiatric interview revealed delirious syndrome, depressive symptoms and anxiety. Neurological examination noted a flaccid paraplegia with peripheral neuropathic syndrome and myoclonus in the upper limbs. At the full blood count, a macrocytosis (VGM: 112.2fl) without anemia was found. The level of vitamin B12 in the blood was low. Cerebro-spinal MRI was suggestive of a neuro-Biermer and showed hyper signal in the cervical cord on T2-weighted sagittal section. In axial section, hyper signal appears at the posterior columns in the form of V. There were no brain abnormalities. A sensorimotor axonal polyneuropathy was diagnosed. The patient received vitamin B12 intramuscularly for ten days associated with neuroleptic treatment. Mrs. R.M., aged 40, was brought to the psychiatry consultation for acute behavioral disorders progressively worsening over a month. An anxiety syndrome, depressive syndrome and delirious syndrome were identified. Neurological examination showed a posterior cordonal syndrome with quadripyramidal syndrome. Full blood count showed a macrocytic anemia. Serum B12 level was collapsed. Cerebro-spinal MRI was normal. She received vitamin B12 with clinical and biological improvement. Features of pernicious anemia

  7. Iron deficiency anemia in the elderly

    Directory of Open Access Journals (Sweden)

    Indra Kurniawan

    2011-02-01

    Full Text Available The numbers of older people in the world have been growing rapidly. Anemia is the most common hematologic problem encountered in older adults. However, anemia should not be accepted as an inevitable consequence of aging. Anemia in the elderly signifies an underlying disease. Iron Defi ciency Anemia (IDA is being one of the most common causes of anemia in older people. IDA in the elderly is often associated with such non specific symptoms. The diagnosis of IDA is typically based on laboratory results. Hence, the utilization of the various laboratory tests plays an important role for the diagnosis of IDA. The presence of IDA in the elderly is usually related with gastrointestinal disorders. Thus,  gastrointestinal evaluation should be contemplated in all patients with IDA unless there is a history of clinically important non gastrointestinal blood loss. Older people with IDA should have iron supplementation both to correct anemia and to replenish body iron stores. However, the underlying cause should always be treated to prevent further iron loss. (Med J Indones 2011; 20:71-7Keywords: anemia, elderly, gastrointestinal, iron deficiency

  8. 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.

  9. Persistence of chicken anemia virus antigen and inclusions in spontaneous cases of Marek's disease visceral lymphomas in broiler chickens at slaughterhouses.

    Science.gov (United States)

    Ahmed, Mohamed Sabry; Ono, Hiroki; Sasaki, Jun; Ochiai, Kenji; Goryo, Masanobu

    2016-06-01

    The chicken anemia virus (CAV) and Marek's disease virus (MDV) infect chickens worldwide; a single or dual infection by these viruses has a great impact on poultry production. In the present study, we examined the existence of CAV antigen and its inclusions in Marek's disease (MD) lymphomas in chickens in the slaughterhouses of Iwate prefecture, Japan. Forty-nine spleens and 13 livers with different degrees of nodular lesions were histopathologically examined at our laboratory. Grossly, the tested organs showed various sizes and anatomical architectures. Based on the cellular morphology and the infiltrative nature of the neoplastic lymphocytes, MD was confirmed in 76% (37/49) of the spleens and 92% (12/13) of the livers. The lesions of MD, according to the pattern of lymphocytic accumulation in the affected organs, were divided into multifocal, coalesced and diffuse. CAV intranuclear inclusion bodies were detected within the small and the large bizarre lymphocytes of the MD lymphomas in 2 livers and 9 spleens, and the immunostaining test for CAV confirmed the persistence of CAV antigens and inclusions in the neoplastic cells. This study demonstrated the persistence of CAV infection within the neoplastic cells of naturally occurring MD lymphomas in chickens.

  10. Imaging Diagnosis of Neonatal Anemia: Report of Two Unusual Etiologies

    OpenAIRE

    2013-01-01

    Anemia in neonatal period is rare, with the common causes being Rh and ABO blood group incompatibility, hemorrhagic disease of newborn, congenital hemolytic anemia, hemoglobinopathies, and TORCH (toxoplasmosis, rubella, cytomegalovirus, herpes virus) infections. Congenital leukemia and infantile osteopetrosis (OP) are among the rare causes of neonatal anemia. A review of the literature shows approximately 200 reported cases of congenital leukemia. Articles describing the imaging features of c...

  11. Anemia associated with chronic heart failure: current concepts

    OpenAIRE

    Shah R; Agarwal AK

    2013-01-01

    Ravish Shah, Anil K AgarwalDivision of Nephrology, The Ohio State University, Columbus, Ohio, USAAbstract: Anemia is a frequent comorbidity of heart failure and is associated with poor outcomes. Anemia in heart failure is considered to develop due to a complex interaction of iron deficiency, kidney disease, and cytokine production, although micronutrient insufficiency and blood loss may contribute. Currently, treatment of anemia of heart failure lacks clear targets and specific therapy is not...

  12. Laboratory Evaluation of Anemia

    OpenAIRE

    1987-01-01

    The laboratory evaluation of anemia begins with a complete blood count and reticulocyte count. The anemia is then categorized as microcytic, macrocytic or normocytic, with or without reticulocytosis. Examination of the peripheral smear and a small number of specific tests confirm the diagnosis. The serum iron level, total iron-binding capacity, serum ferritin level and hemoglobin electrophoresis generally separate the microcytic anemias. The erythrocyte size-distribution width may be particul...

  13. Iron deficiency anemia

    OpenAIRE

    Naigamwalla, Dinaz Z.; Webb, Jinelle A.; Giger, Urs

    2012-01-01

    Iron is essential to virtually all living organisms and is integral to multiple metabolic functions. The most important function is oxygen transport in hemoglobin. Iron deficiency anemia in dogs and cats is usually caused by chronic blood loss and can be discovered incidentally as animals may have adapted to the anemia. Severe iron deficiency is characterized by a microcytic, hypochromic, potentially severe anemia with a variable regenerative response. Iron metabolism and homeostasis will be ...

  14. Identification of a Locus for Autosomal Dominant Polycystic Liver Disease, on Chromosome 19p13.2-13.1

    OpenAIRE

    Reynolds, David M.; Falk, Cathy T.; Li, Airong; King, Bernard F.; Kamath, Patrick S.; Huston III, John; Shub, Clarence; Iglesias, Diana M.; Martin, Rodolfo S.; Pirson, Yves; Torres, Vicente E.; Somlo, Stefan

    2000-01-01

    Polycystic liver disease (PCLD) is characterized by the growth of fluid-filled cysts of biliary epithelial origin in the liver. Although the disease is often asymptomatic, it can, when severe, lead to complications requiring surgical therapy. PCLD is most often associated with autosomal dominant polycystic kidney disease (ADPKD); however, families with an isolated polycystic liver phenotype without kidney involvement have been described. The clinical presentation and histological features of ...

  15. How Is Pernicious Anemia Treated?

    Science.gov (United States)

    ... from the NHLBI on Twitter. How Is Pernicious Anemia Treated? Doctors treat pernicious anemia by replacing the missing vitamin B12 in the body. People who have pernicious anemia may need lifelong treatment. The goals of treating ...

  16. How Is Aplastic Anemia Treated?

    Science.gov (United States)

    ... from the NHLBI on Twitter. How Is Aplastic Anemia Treated? Treatments for aplastic anemia include blood transfusions , blood and marrow stem cell ... a transplant. Removing a known cause of aplastic anemia, such as exposure to a toxin, also may ...

  17. Genetics Home Reference: Fanconi anemia

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions Fanconi anemia Fanconi anemia Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Fanconi anemia is a condition that affects many parts of ...

  18. Comparison of Bone Marrow and Blood Cell Morphology Between Refractory Anemia and Other Anemia Disease%难治性贫血与其它贫血性疾病骨髓及血细胞形态学比较分析

    Institute of Scientific and Technical Information of China (English)

    程虹; 江明; 杜伟; 钟笛; 郝建萍; 李玲

    2012-01-01

    本研究观察骨髓增生异常综合征(MDS),主要是难治性贫血(RA)骨髓及外周血细胞形态学特点,并与其它贫血性疾病(慢性再生障碍性贫血、溶血性贫血、巨幼细胞性贫血)进行比较分析.取患者骨髓及外周血制成涂片行瑞氏染色,骨髓分类500个有核细胞,外周血分类100个有核细胞,观察红系、粒系、巨核系病态细胞特点.结果发现,外周血中性分叶核细胞浆内颗粒稀少或缺如、Pelger核异常改变、幼粒细胞数及检出率、单核细胞检出率以及骨髓粒系各阶段细胞出现颗粒缺如,红系奇数核、核出芽,巨核系小巨核及单圆核巨核细胞等在RA与慢性再生障碍性贫血、溶血性贫血、巨幼细胞性贫血比较均有显著性差异(P<0.05).结论:细胞形态学是MDS诊断的基础,外周血及骨髓细胞形态学异常在MDS与其他贫血性疾病的鉴别诊断中具有重要作用.%This study was purposed to investigate the cell morphological features of bone marrow and peripheral blood in patients with myelodysplastic syndrome, mainly with refractory anemia, and to compare them with other anemia diseases including chronic aplastic anemia, hemolytic anemia and megaloblastic anemia. The bone marrow and peripheral blood were taken from patients for preparing the smears with Wright staining. 500 karyocytes in bone marrow and 100 karyocytes in peripheral blood were detected, and the features of morbid cells of erythrocyte, granulocyte and megakaryocytic series were observed. The results showed that differences between refractory anemia, chronic aplastic anemias and hemolytic anemia as well as megaloblastic anemia were statistically significant (P < 0.05) in the granules scarce and absence in the intracytoplasm of segmented neutrocyte in peripheral blood, Pelger dyskaryosis, the numbers and detected rate of immature granulocytes, monocyte detected rate, the granules scarce in all stage of granulocytic series in bone

  19. Inborn anemias in mice

    Energy Technology Data Exchange (ETDEWEB)

    Bernstein, S.E.; Barker, J.E.; Russell, E.S.

    1981-06-01

    hereditary anemias of mice have been the chief objects of investigation. At present under study are four macrocytic anemias, five hemolytic anemias, nonhemolytic microcytic anemia, transitory siderocytic anemia, sex-linked iron-transport anemia, an ..cap alpha..-thalassemia, and a new target-cell anemia. Each of these blood dyscrasias is caused by the action of a unique mutant gene, which determines the structure of different intracellular molecules, and thus controls a different metabolic process. Thus our wide range of different hereditary anemias has considerable potential for uncovering many different aspects of hemopoietic homeostatic mechanisms in the mouse. Each anemia is studied through: (a) characterization of peripheral blood values, (b) determinations of radiosensitivity under a variety of conditions, (c) measurements of iron metabolism and heme synthesis, (d) histological and biochemical study of blood-forming tissue, (e) functional tests of the stem cell component, (f) examination of responses to erythroid stimuli, and (g) transplantation of tissue between individuals of differently affected genotypes.

  20. Anemia in Pregnancy

    Directory of Open Access Journals (Sweden)

    Umran Kucukgoz Gulec

    2013-06-01

    Full Text Available Iron deficiency anemia (IDA is the most frequent form of anemia in pregnant women. Folic acid, vitamin B12 deficiency, and hemoglobinopathies are other causes of anemia in pregnancy. Finding the underlying cause are crucial to the management of the anemia. Anemia is defined as hemoglobin of <11 g/dl in the first and third trimester and <10.5 g/dl in second trimester. According to the literature, anemia, particularly severe anemia (Hb<7g/dl is associated with increased risk of maternal and perinatal mortality and morbidity, and long term adverse effects in the newborn. The association of hemoglobin levels to perinatal outcome has been shown to be U shaped with both high and low hemoglobin levels being associated adverse perinatal outcome such as low birth weight, increased stillbirths. Anemia in pregnancy is a major public health problem. Ideally a woman should have adequate iron stores when she conceives, in order meet to additional requirements of pregnancy. This review focuses on the occurrence, types, maternal and perinatal outcomes, prevention and treatment of anemia during pregnancy. [Archives Medical Review Journal 2013; 22(3.000: 300-316

  1. Anemia in the Elderly

    OpenAIRE

    Sparling, Terence G.

    2013-01-01

    As the population ages, increasing attention has become focused on the prevalence of anemia in elderly individuals. Anemia occurs in more than 10% of individuals who are older than the age of 65 years, and it increases to more than 50% in individuals who are older than the age of 80 years. Although the anemia is typically mild and unlikely to result in symptoms, it is uniformly associated with increased morbidity and mortality as assessed in large cohort studies. Anemia is an independent pred...

  2. Health-related behavior, profile of health locus of control and acceptance of illness in patients suffering from chronic somatic diseases.

    Directory of Open Access Journals (Sweden)

    Konrad Janowski

    Full Text Available PURPOSE: The purpose of the study was to determine health-related behaviors, profile of health locus of control (HLC, and to assess the relationships between these constructs among patients suffering from chronic somatic diseases. MATERIAL AND METHODS: Three-hundred adult patients suffering from various chronic diseases participated in the study. The patients' mean age was 54.6 years (SD = 17.57. RESULTS: No statistically significant differences were found between the different clinical groups in health-related behavior, acceptance of illness, internal HLC or chance HLC. Patients with neurologic conditions showed slightly lower powerful others HLC than did some other clinical groups. Health-related behavior was significantly positively related to all three categories of HLC, with most prominent associations observed with powerful others HLC. Only one type of health-related behavior--preventive behavior--correlated significantly and negatively with acceptance of illness. Differences in the frequency of health-related behavior were also found due to gender (women showing more healthy nutritional habits than men, age (older subjects showing more frequent health-promoting behavior, education (higher education was associated with less frequent health-promoting behavior and marital status (widowed subjects reporting more frequent health-promoting behavior. CONCLUSIONS: Health-related behavior in patients with chronic diseases seems to be unrelated to a specific diagnosis; however it shows associations with both internal and external HLC. Sociodemographic factors are also crucial factors determining frequency of health-related behavior in such patients.

  3. Characterization of a novel gene at the Gaucher disease locus spanning the region between the glucocerebrosidase (GC) pseudogene and thrombospondin (TSP)3

    Energy Technology Data Exchange (ETDEWEB)

    Ginns, E.I.; Winfield, S.; Sidransky, E. [NIMH, Bethesda, MD (United States)] [and others

    1994-09-01

    The human GC locus on chromosome 1q21 encompasses a 7 kb functional gene encoding the enzyme deficient in Gaucher disease, and a highly homologous sequence 16 Kb downstream that has the properties of a pseudogene. A novel gene, gene X, spanning the 6 kb region between the pseudogene and TSP3 has been identified and characterized in the mouse, and appears to be critical for normal embryonic development. As in the mouse, the human gene X is located 5{prime} to the TSP3 gene and two genes are transcribed divergently from a bidirectional promoter; the direction of transcription of gene X and GC is convergent. However, in the human, gene X and GC are separated by gene X and GC pseudogenes that are the consequence of a gene duplication. The gene X pseudogene lacks the first exon and part of the second exon of the functional gene and may not be transcribed. Northern blot analyses indicate that gene X is transcribed in both normal individuals and in patients with Gaucher disease, but the function of this gene is still unknown. The possibility that mutations in gene X could account for some of the diversity of symptoms encountered in individuals with the more atypical presentations of Gaucher disease is under investigation.

  4. Association of Linear Growth Impairment in Pediatric Crohn's Disease and a Known Height Locus: A Pilot Study

    NARCIS (Netherlands)

    J.J. Lee (Jessica); J.B. Essers (Jonah); S. Kugathasan (Subra); J.C. Escher (Johanna); G. Lettre (Guillaume); J.L. Butler (Johannah); M.C. Stephens (Michael); M.F. Ramoni (Marco); R.J. Grand (Richard); J.N. Hirschhorn (Joel)

    2010-01-01

    textabstractThe etiology of growth impairment in Crohn's disease (CD) has been inadequately explained by nutritional, hormonal, and/or disease-related factors, suggesting that genetics may be an additional contributor. The aim of this cross-sectional study was to investigate genetic variants associa

  5. Sobre o diagnostico histologico da anemia drepanocytica On the histologic diagnosis of the drepanocytic anemia

    Directory of Open Access Journals (Sweden)

    A. Penna de Azevedo

    1937-01-01

    Full Text Available No presente trabalho são descriptas as alterações anatomo-pathologicas do baço na anemia drepanocytica (anemia falciforme, Sicklecell anemia A observação refere-se a um menino de 12 annos de edade, de côr preta, o qual veio a fallecer em consequencia de processo de trombo-phlebite cerebral e de leptomeningite. A doença não foi reconhecida durante a vida e sómente pelo exame dos córtes histologicos do baço é que foi estabelecido o diagnostico de anemia drepanocytica, apresentando o baço as alterações peculiares á doença.In the present paper, the pathologico-anatomical changes of spleen in drepanocytic anemia are described (Sickle-cell anemia. In the case history, a 12 years old negro boy is concerned, who died in consequence of a cerebral thrombophlebitis process and leptomeningitis. The disease had not been recognized during life, and only on examination of the histological sections of the spleen the diagnosis of drepanocytic anemia was made, as this organ presented changes which are peculiar of the disease.

  6. Relation Between Chronic Obstructive Pulmonary Disease with Anemia and Inflammation%慢性阻塞性肺疾病合并贫血与炎症相关研究

    Institute of Scientific and Technical Information of China (English)

    黄洁; 李承红

    2014-01-01

    Objective To study the relation between the chronic obstructive pulmonary disease (COPD )with anemia and inflammation. Methods According to the anemia standard,the 273 cas⁃es of AECOPD were enrolled. 40 cases of anemia in COPD(anemia group)and 40 cases of non-ane⁃mic in COPD(non-anemia group) were selected. Lung function(FEV1%),and interleukin-6 (IL-6),interleukin-8(IL-8),and tumor necrosis factor-α(TNF-α)were determined,and the count of CD4+and CD8+T cell were measured with flow cytometry. The correlation was studied. Re⁃sults The level of interleukin-6(IL-6),interleukin-8(IL-8),and tumor necrosis factor-α(TNF-α)were significantly higher in anemia group than in non-anemic group(P< 0.05). The ratio of CD4+/CD8+ in anemia group were significantly lower than non-anemic group(P< 0.05). Conclu⁃sion COPD with anemic may be related inflammation.%目的:研究慢性阻塞性肺疾病(COPD)合并贫血患者与炎症的关系。方法根据贫血标准对273例慢性阻塞性肺疾病急性加重期(AECOPD)患者进行调查,对其中合并贫血的COPD患者(贫血组)40例和非贫血的COPD患者(非贫血组)40例为研究对象。常规行肺功能(FEV1%)检查,测定血清细胞因子白细胞介质IL-6、IL-8与肿瘤坏死因子-α(TNF-α)及流式细胞仪检测CD4+、CD8+T细胞,并计算其相关性。结果贫血组患者的炎症指标IL-6、IL-8、TNF-α水平高于非贫血组(P<0.05),CD4+/CD8+T细胞比例低于非贫血组(P<0.05),差异均有统计学意义。结论 COPD患者合并贫血可能与炎症相关。

  7. H.pylori associated with iron deficiency anemia even in celiac disease patients; strongly evidence based but weakly reflected in practice

    Science.gov (United States)

    Rostami-Nejad, Mohammad; Aldulaimi, David; Livett, Helen; Rostami, Kamran

    2015-01-01

    Inflammation can lead to malabsorption of important micronutrients such as iron. Malabsorption and nutritional deficiency can be caused by a variety of pathological and environmental factors causing a range of other symptoms commonly caused by both H. pylori infection and coeliac disease (CD). National guidelines suggest the routine taking of duodenal biopsies to exclude CD when investigating patients for iron deficiency anemia (IDA). Studies suggest that in absence of positive antibodies, IDA is rarely caused by CD. Recent British Society of Gastroenterology guidelines discourage the routine duodenal biopsies in low risk cases but despite this guidance, taking duodenal biopsies for IDA is a common practice. Many studies have reported that H. pylori infection is associated with IDA even in patients with CD. In countries with low H. pylori prevalence we still detect more H. pylori than CD standing behind IDA. Despite the strong association between IDA and H. pylori, taking biopsies to diagnose H. pylori infection is not usually a routine part of the diagnostic workup to identify the etiology of IDA. In this review we will discuss the impact of H. pylori in IDA and highlight the possible gaps in identifying the IDA etiology. PMID:26328039

  8. H.pylori associated with iron deficiency anemia even in celiac disease patients; strongly evidence based but weakly reflected in practice.

    Science.gov (United States)

    Rostami-Nejad, Mohammad; Aldulaimi, David; Livett, Helen; Rostami, Kamran

    2015-01-01

    Inflammation can lead to malabsorption of important micronutrients such as iron. Malabsorption and nutritional deficiency can be caused by a variety of pathological and environmental factors causing a range of other symptoms commonly caused by both H. pylori infection and coeliac disease (CD). National guidelines suggest the routine taking of duodenal biopsies to exclude CD when investigating patients for iron deficiency anemia (IDA). Studies suggest that in absence of positive antibodies, IDA is rarely caused by CD. Recent British Society of Gastroenterology guidelines discourage the routine duodenal biopsies in low risk cases but despite this guidance, taking duodenal biopsies for IDA is a common practice. Many studies have reported that H. pylori infection is associated with IDA even in patients with CD. In countries with low H. pylori prevalence we still detect more H. pylori than CD standing behind IDA. Despite the strong association between IDA and H. pylori, taking biopsies to diagnose H. pylori infection is not usually a routine part of the diagnostic workup to identify the etiology of IDA. In this review we will discuss the impact of H. pylori in IDA and highlight the possible gaps in identifying the IDA etiology.

  9. Study on cytokines in patients with anemia of chronic diseases%慢性病贫血患者细胞因子变化的研究

    Institute of Scientific and Technical Information of China (English)

    马付坚

    2004-01-01

    目的探讨肿瘤坏死因子α(tumor necrosis factor-α,TNF-α)、干扰素γ(interferon γ,INF-γ)、白细胞介素6(interleukin 6,IL-6)在慢性病贫血(anemia of chronic diseases ,ACD)发生机制中的作用.方法测定31例ACD患者的铁代谢指标(血清铁、血清铁蛋白、骨髓铁),采用双抗体酶联免疫吸附法(ELISA)检测ACD患者血清中TNF-α、INF-γ、IL-6.结果与对照组比较,ACD组血清中TNF-α、INF-γ、IL- 6均显著增高(P<0.01).TNF-α、IL- 6与血清铁、血红蛋白浓度呈负相关.结论免疫及炎症反应所产生的细胞因子INF-γ、TNF-α、IL-6等可能通过干扰铁代谢和抑制EPO(erythropoietin)生成、钝化对EPO的反应等途径介导了慢性病贫血的发生和发展过程.

  10. Diagnosis and differential diagnosis of anemia of chronic disease%慢性病贫血的诊断与鉴别诊断

    Institute of Scientific and Technical Information of China (English)

    田凡清

    2006-01-01

    @@ 慢性病贫血(anemia of chronic disease,ACD)是临床上常见的贫血,其发病率仅次于缺铁性贫血(IDA),通常是由慢性炎症、肿瘤、风湿病等慢性疾病导致体内铁代谢障碍、骨髓造血失代偿、红细胞寿命缩短而造成的贫血,临床上主要表现为早期正常细胞性贫血和中后期小细胞低色素性贫血,血清铁及总铁结合力均低于正常,ACD时由于大量骨髓铁贮存在单核-巨噬细胞系统中,故早年被称为铁粒幼细状内皮系统含铁血黄素沉着症[1],因其常伴某些慢性感染、肿瘤等疾病,自20世纪70年代开始改称为ACD.

  11. Characteristics of anemia in subclinical and overt hypothyroid patients.

    Science.gov (United States)

    Erdogan, Mehmet; Mehmet, Erdogan; Kösenli, Aybike; Aybike, Kosenli; Ganidagli, Sencer; Kulaksizoglu, Mustafa; Mustafa, Kulaksizoglu

    2012-01-01

    Thyroid hormones stimulate directly or indirectly growth of erythroid colonies through erythropoietin. Anemia is often the first sign of hypothyroidism. Hypothyroidism can cause a wide variety of anemic disorders. Numerous mechanisms are involved in the pathogenesis of these anemias that can be microcytic, macrocytic and normocytic. We designed this study to investigate the anemia frequency and if present, etiology of anemia in hypothyroid patients. 100 patients with overt hypothyroid, 100 patients with subclinical hypothyroid, and 200 healthy controls were enrolled in this study. Overt hypothyroidism diagnosis is done when elevated TSH and low levels of free T4 and/or free T3 have been observed. Subclinical hypothyroidism is defined as elevated serum TSH with normal free T(4) and free T(3) levels. Peripheral smears of the anemic patients were examined. Anemia prevalence was 43% in the overt hypothyroid group, 39% in the subclinical hypothyroid group, and 26% in the control group (p=0.0003 and p=0.021 respectively related to controls). Thus, the frequency of anemia in subclinical hypothyroidism is as high as that in overt hypothyroidism. There was no difference between the hypothyroid groups in terms of anemia. Vitamin B12, Fe, and folic acid were similar between these groups. According to our findings, anemia of chronic disease is the most common type of anemia in hypothyroid patients. Suspicion of hypothyroidism should be considered in anemias with uncertain etiology.

  12. 小儿外科重大疾病术前贫血与干预多中心调查%Multi-center epidemiological survey of preoperative anemia and intervention status of some major pediatric surgical diseases

    Institute of Scientific and Technical Information of China (English)

    林茹; 刘晋萍; 周荣华; 李鹏; 王斌; 郑珊; 舒强

    2014-01-01

    目的 了解国内部分地区小儿外科某些重大疾病术前贫血与干预状况,为进一步开展小儿围术期血液管理提供依据.方法 研究单位分别选择2012年5月至2014年3月期间住院的非紫绀先天性心脏病、先天性巨结肠和胆总管囊肿患儿做回顾性问卷调查.纳入标准:最接近手术日的术前血常规报告血红蛋白(Hb)值低于120 g/L即诊断贫血.干预措施指对术前贫血是否采用输血或补充促红细胞生成素(rHuEPO)、铁剂、维生素等等.结果 共调查北京、上海、杭州、西安、深圳和成都地区6家医院874例患儿.其中先天性心脏病组458例,男282例,女176例;年龄2个月至13.5岁,平均(28.58±29.79)个月.Hb低于120 g/L有276例,总发生率为60.3%,其中轻度贫血(Hb<120 g/L,≥90 g/L)为58.1%(266/458),中度以上贫血(Hb<90 g/L)为2.2%(10/458).福利院、小于1岁或/和肺动脉高压的患儿贫血发生率分别明显高于总发生率(P=0.008、P<0.001、P<0.001);普外组416例中,男204例,女212例,年龄2个月至16.25岁,平均(28.60±32.30)个月.Hb低于120 g/L有331例,总发生率为79.6%,其中轻度贫血为71.4%(297/416),中度以上贫血为8.2%(34/416).术前贫血发生率各个地区存在明显差异,从50%到100%不等;对术前贫血不处理直接手术的比例达到89.1%以上;除个别医院术前采用rHuEPO,较少有其他干预措施.结论 国内部分地区小儿外科某些重大疾病术前贫血发生率较高,不干预直接手术的状况十分普遍,应引起重视.%Objective To explore the incidence of preoperative anemia and intervention status of some major pediatric surgical diseases in some domestic areas so as to provide scientific rationales for perioperative blood management in children.Methods The hospitalized patients with non-cyanotic congenital heart disease,Hirschsprug's diseaseor choledochal cyst from May 2012 to March 2014 at all study units were surveyed

  13. 类风湿关节炎患者贫血情况及其对疾病影响的研究%Study on Anemia of Patients with Rheumatoid Arthritis and Its Effects on Their Diseases

    Institute of Scientific and Technical Information of China (English)

    姚血明; 马武开; 黄颖; 唐芳; 安阳; 钟琴

    2014-01-01

    目的:了解类风湿关节炎患者贫血情况,探讨贫血对患者生存质量、疾病活动度的影响,以提高对类风湿关节炎患者贫血的重视。方法:选取类风湿关节炎患者258例,分析患者的贫血情况,并研究贫血对患者疾病活动度、生存质量的影响。结果:258例患者中存在贫血146例(56.59%),其中中度贫血患者42例(16.28%),轻度贫血患者104例(40.31%),伴贫血的类风湿关节炎患者倾向得到更高的生存质量总积分及DAS28评分(P0.05)。贫血程度与生存质量中生理功能(r=0.195,P=0.000)、社会功能(r=0.260,P=0.000)有一定的相关性,与社会功能相关性更高;与生存质量中心理功能、健康自我认识无明显相关性。贫血程度与DAS28评分明显相关(r=0.357,P=0.000)。结论:类风湿关节炎患者发生贫血比例高,多数为轻度贫血,伴贫血的类风湿关节炎患者疾病活动度更高,生存质量更差。%Objective:To study the condition of anemia in patients with rheumatoid arthritis and its effects on their survival quality and disease activity.Methods:Took out-patients and hospitalized 258 patients with rheumatoid arthritis in our hospital as the research objects to analyze the condition of anemia in patients with rheumatoid arthritis and its effects on their survival quality and disease activity.Results:Among 258 patients, 146 cases had anemia(56.59%),among which 42 cases had moderate anemia(16.28%)and 104 cases had mild anemia(40.31%).Patients with rheumatoid arthritis had the tendency of having a higher score for the total survival quality and DAS28 score(P0.05).There was certain correlation between the degree of anemia and physiological function(r=0.195,P=0.000) and social function(r=0.260,P=0.000),especially the social function.It had no obvious correlation with psychological function and self-known health.There was obvious relationship between the degree of

  14. Fanconi anemia - learning from children

    Directory of Open Access Journals (Sweden)

    Johanna Svahn

    2011-06-01

    Full Text Available Fanconi Anemia (FA is a rare autosomic recessive and X-linked disease with chromosomal instability after exposure to crosslinking agents as the hallmark. Clinical features of FA are somatic malformations, progressive bone marrow failure and cancer proneness, however there is wide clinical heterogeneity. The symptom most frequently and early associated with morbidity and mortality is progressive pancytopenia in the first decade of life although acute myelogenous leukemia (AML or myelodysplastic syndrome (MDS can appear before aplastic anemia. Squamous cell carcinoma (SCC of the head-neck, intestinal or genital tract has a very high incidence in FA and can appear at young age. This paper will focus on treatment of bone marrow failure in FA.

  15. Anemia hemolítica imunomediada em cães - relato de três casos

    OpenAIRE

    Luciana Curotto Nolasco de Carvalho; João Henrique Atero de Carvalho Leite; Patricia Mendes Pereira

    2011-01-01

    Immune-mediated hemolytic anemia (IMHA) is a common type of anemia in dogs and cats. The disease é most common in middle-aged female dogs, especially American Cocker Spaniel. The clinical signs are associated with severe anemia. There is no pathognomonic test for IMHA, but the presence of hemolytic anemia in a young adult or middle age, autoagglutination and spherocytosis or positive results of Coombs test, elimination of any other underlying cause of anemia and an appropriate response to imm...

  16. Xiv conferencia : anemias

    OpenAIRE

    Paredes Manrique, Raúl; Camacho Gamba, Jorge

    2012-01-01

    La anemia es la disminución por debajo de lo normal de la Hb. o del número de globulos rojos o del hematocrito, pero es difícil encontrar un cuadro clínico que corresponda a la realidad de la anemia en el cual no estén descendidos los tres elementos.

  17. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Blood Tests Blood Transfusion Restless Legs Syndrome Send a link to NHLBI to someone by E-MAIL | ... Iron-Deficiency Anemia? Español Iron-deficiency anemia is a common, easily treated condition that occurs if you ...

  18. Freezing of Gait in Parkinson’s Disease Is Associated with Reduced 6-[18F]Fluoro-L-m-tyrosine Uptake in the Locus Coeruleus

    Directory of Open Access Journals (Sweden)

    Sayaka Asari Ono

    2016-01-01

    Full Text Available Freezing of gait (FOG is a common disorder in Parkinson’s disease (PD and could be attributed to a reduction in brain noradrenaline. The aim of this study was to determine the relationship between aromatic L-amino acid decarboxylase (AADC activity in the locus coeruleus (LC and FOG in PD using high-resolution positron emission tomography with an AADC tracer, 6-[18F]fluoro-L-m-tyrosine (FMT. We assessed 40 patients with PD and 11 age-matched healthy individuals. PD was diagnosed based on the UK Brain Bank criteria by two movement disorder experts. FOG was directly observed by the clinician and assessed using a patient questionnaire. FMT uptake in the LC, caudate, and putamen was analyzed using PMOD software on coregistered magnetic resonance images. FOG was present in 30 patients. The severity of FOG correlated with the decrease of FMT uptake in the LC regardless of disease duration and the severity of other motor impairments, indicating dysfunction of the noradrenergic network in FOG.

  19. Relationship of Acute Exacerbation of Chronic Obstructive Pulmonary Disease and Anemia%慢性阻塞性肺疾病急性加重与贫血的关系研究

    Institute of Scientific and Technical Information of China (English)

    陈梅晞; 蒋明; 林武洲

    2012-01-01

    目的 慢性阻塞性肺疾病(chronic obstructive pulmonary disease,COPD)可引起一系列肺外症状,包括贫血.本研究对慢性阻塞性肺疾病急性加重期(AECOPD)患者的相关临床指标进行分析,以期发现贫血的可能原因.方法根据血红蛋白结果分为血红蛋白正常组、血红蛋白增高组和血红蛋白降低组(贫血组),对近2年来住院的AECOPD患者的红细胞参数、体质指数、C反应蛋白、血清清蛋白、纤维蛋白原及肺功能进行回顾性分析.结果贫血组体质指数、血清清蛋白明显减低;C反应蛋白、纤维蛋白原水平明显升高;红细胞参数与肺功能严重程度无关.结论 AECOPD患者中贫血发病率较高,营养不良、炎症反应与贫血有关.%Objective The chronic obstructive pulmonary disease ( COPD ) may cause a series of extra - pulmonary symptoms including anemia. This article was to analyze the related clinical indexes of patients with acute exacerbation of COPD ( AECOPD ) so as to find out the possible factors of anemia. Methods The AECOPD inpatients in the past two years were divided according to the levels of hemoglobin as normal hemoglobin group, hemoglobin increased group and hemoglobin decreased group ( anemia group ). The patients' parameters of red blood cell, body weight index, C - response protein, serum albumin, fibrinogen, and lung function were retrospectively analyzed. Results In the anemia group body weight index, serum albumin significantly decreased, the levels of C - response protein, and fibrinogen increased obviously, and the red blood cell parameter had no correlation with the severity of lung function. Conclusion The prevalence of anemia is higher in AECOPD patients, and malnutrition and inflammation is associated with anemia.

  20. Mitochondrial iron metabolism and sideroblastic anemia.

    Science.gov (United States)

    Sheftel, Alex D; Richardson, Des R; Prchal, Josef; Ponka, Prem

    2009-01-01

    Sideroblastic anemias are a heterogeneous group of disorders, characterized by mitochondrial iron overload in developing red blood cells. The unifying characteristic of all sideroblastic anemias is the ring sideroblast, which is a pathological erythroid precursor containing excessive deposits of non-heme iron in mitochondria with perinuclear distribution creating a ring appearance. Sideroblastic anemias may be hereditary or acquired. Hereditary sideroblastic anemias are caused by defects in genes present on the X chromosome (mutations in the ALAS2, ABCB7, or GRLX5 gene), genes on autosomal chromosomes, or mitochondrial genes. Acquired sideroblastic anemias are either primary (refractory anemia with ring sideroblasts, RARS, representing one subtype of the myelodysplastic syndrome) or secondary due to some drugs, toxins, copper deficiency, or chronic neoplastic disease. The pathogenesis of mitochondrial iron loading in developing erythroblasts is diverse. Ring sideroblasts can develop as a result of a heme synthesis defect in erythroblasts (ALAS2 mutations), a defect in iron-sulfur cluster assembly, iron-sulfur protein precursor release from mitochondria (ABCB7 mutations), or by a defect in intracellular iron metabolism in erythroid cells (e.g. RARS).

  1. Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.

    Science.gov (United States)

    Bolar, Nikhita Ajit; Golzio, Christelle; Živná, Martina; Hayot, Gaëlle; Van Hemelrijk, Christine; Schepers, Dorien; Vandeweyer, Geert; Hoischen, Alexander; Huyghe, Jeroen R; Raes, Ann; Matthys, Erve; Sys, Emiel; Azou, Myriam; Gubler, Marie-Claire; Praet, Marleen; Van Camp, Guy; McFadden, Kelsey; Pediaditakis, Igor; Přistoupilová, Anna; Hodaňová, Kateřina; Vyleťal, Petr; Hartmannová, Hana; Stránecký, Viktor; Hůlková, Helena; Barešová, Veronika; Jedličková, Ivana; Sovová, Jana; Hnízda, Aleš; Kidd, Kendrah; Bleyer, Anthony J; Spong, Richard S; Vande Walle, Johan; Mortier, Geert; Brunner, Han; Van Laer, Lut; Kmoch, Stanislav; Katsanis, Nicholas; Loeys, Bart L

    2016-07-07

    Autosomal-dominant tubulo-interstitial kidney disease (ADTKD) encompasses a group of disorders characterized by renal tubular and interstitial abnormalities, leading to slow progressive loss of kidney function requiring dialysis and kidney transplantation. Mutations in UMOD, MUC1, and REN are responsible for many, but not all, cases of ADTKD. We report on two families with ADTKD and congenital anemia accompanied by either intrauterine growth retardation or neutropenia. Ultrasound and kidney biopsy revealed small dysplastic kidneys with cysts and tubular atrophy with secondary glomerular sclerosis, respectively. Exclusion of known ADTKD genes coupled with linkage analysis, whole-exome sequencing, and targeted re-sequencing identified heterozygous missense variants in SEC61A1-c.553A>G (p.Thr185Ala) and c.200T>G (p.Val67Gly)-both affecting functionally important and conserved residues in SEC61. Both transiently expressed SEC6A1A variants are delocalized to the Golgi, a finding confirmed in a renal biopsy from an affected individual. Suppression or CRISPR-mediated deletions of sec61al2 in zebrafish embryos induced convolution defects of the pronephric tubules but not the pronephric ducts, consistent with the tubular atrophy observed in the affected individuals. Human mRNA encoding either of the two pathogenic alleles failed to rescue this phenotype as opposed to a complete rescue by human wild-type mRNA. Taken together, these findings provide a mechanism by which mutations in SEC61A1 lead to an autosomal-dominant syndromic form of progressive chronic kidney disease. We highlight protein translocation defects across the endoplasmic reticulum membrane, the principal role of the SEC61 complex, as a contributory pathogenic mechanism for ADTKD.

  2. Appropriate management of anemia with human erythropoietin in chronic kidney disease%合理应用人促红细胞生成素治疗肾性贫血

    Institute of Scientific and Technical Information of China (English)

    付平; 陈肖蕾

    2012-01-01

    Human erythropoietin has been the mainstay treatment of renal anemia. The 2012 guideline for treatment of anemia, drafted by Kidney Disease; Improving Global Outcomes (KDIGO) .issued the recommendations for clinical application of human erythropoietin in patients with chronic kidney disease based on the latest literature report. This review was designed to delineate the target concentration of hemoglobin, initiation of erythropoietin therapy, protocols for administration and the efficacy, thus optimizing the use of erythropoietin. The merits and potential risks of erythropoietin should be carefully weighed in the treatment of anemia.%基因重组人促红细胞生成素(rHuEPO)是治疗肾性贫血的主要药物,2012年改善全球肾脏病预后组织(KDIGO)贫血治疗指南根据最新的研究结果对EPO在慢性肾脏病的应用规范提出了建议.本文将从血红蛋白目标值、EPO治疗的启动时机、给药方案、EPO的反应性等方面进行讨论,探寻更加合理的EPO应用策略.在纠正贫血的过程中,应兼顾EPO治疗的获益和风险.

  3. EXpanding Treatment for Existing Neurological Disease (EXTEND): An Open-Label Phase II Clinical Trial of Hydroxyurea Treatment in Sickle Cell Anemia

    Science.gov (United States)

    Little, Courtney R; Reid, Marvin E; Soares, Deanne P; Taylor-Bryan, Carolyn; Knight-Madden, Jennifer M; Stuber, Susan E; Badaloo, Asha V; Aldred, Karen; Wisdom-Phipps, Margaret E; Latham, Teresa; Ware, Russell E

    2016-01-01

    Background Cerebral vasculopathy in sickle cell anemia (SCA) begins in childhood and features intracranial arterial stenosis with high risk of ischemic stroke. Stroke risk can be reduced by transcranial doppler (TCD) screening and chronic transfusion therapy; however, this approach is impractical in many developing countries. Accumulating evidence supports the use of hydroxyurea for the prevention and treatment of cerebrovascular disease in children with SCA. Recently we reported that hydroxyurea significantly reduced the conversion from conditional TCD velocities to abnormal velocities; whether hydroxyurea can be used for children with newly diagnosed severe cerebrovascular disease in place of starting transfusion therapy remains unknown. Objective The primary objective of the EXpanding Treatment for Existing Neurological Disease (EXTEND) trial is to investigate the effect of open label hydroxyurea on the maximum time-averaged mean velocity (TAMV) after 18 months of treatment compared to the pre-treatment value. Secondary objectives include the effects of hydroxyurea on serial TCD velocities, the incidence of neurological and non-neurological events, quality of life (QOL), body composition and metabolism, toxicity and treatment response, changes to brain magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA), genetic and serologic markers of disease severity, and cognitive and pulmonary function. Methods This prospective Phase II trial will enroll children with SCA in Jamaica, between the ages of 2 and 17 years, with either conditional (170-199 cm/sec) or abnormal (≥ 200 cm/sec) TCD velocities. Oral hydroxyurea will be administered daily and escalated to the maximum tolerated dose (MTD). Participants will be seen in the Sickle Cell Unit (SCU) in Kingston, Jamaica monthly until achieving MTD, and then every 3 months. TCD will be performed every 6 months. Results Currently, 43 participants have been enrolled out of a projected 50. There was one

  4. Genetic association of multiple sclerosis with the marker rs391745 near the endogenous retroviral locus HERV-Fc1: analysis of disease subtypes

    DEFF Research Database (Denmark)

    Hansen, Bettina; Oturai, Annette Bang; Harbo, Hanne F;

    2011-01-01

    We have previously described the occurrence of multiple sclerosis (MS) to be associated with human endogenous retroviruses, specifically the X-linked viral locus HERV-Fc1. The aim of this study was to investigate a possible association of the HERV-Fc1 locus with subtypes of MS. MS patients are ge...

  5. Iron deficiency anemia due to excessive green tea drinking

    OpenAIRE

    Fan, Frank S.

    2016-01-01

    Key Clinical Message Tea interferes with iron absorption and can lead to iron deficiency anemia when consumed in large quantities. The rechallenge effect of green tea on anemia in a middle‐aged man emphasizes the potential causal role of this beverage. Lifestyle and dietary habits are important diagnostic considerations in diseases of this type.

  6. The ATXN2-SH2B3 locus is associated with peripheral arterial disease: an electronic medical record-based genome-wide association study

    Directory of Open Access Journals (Sweden)

    Iftikhar eKullo

    2014-06-01

    Full Text Available Objectives: In contrast to coronary heart disease, genetic variants that influence susceptibility to peripheral arterial disease (PAD remain unknown. Background: We performed a two-stage genomic association study leveraging an electronic medical record linked-biorepository to identify genetic variants that mediate susceptibility to PAD.Methods: PAD was defined as a resting/post-exercise ankle-brachial index (ABI ≤0.9 or ≥1.4 and/or history of lower extremity revascularization. Controls were patients without history of PAD. In Stage I we performed a genome-wide association analysis adjusting for age and sex, of 561,490 SNPs in 1641 PAD cases (66±11 y, 64% men and 1604 control subjects (61±7 y, 60% men of European ancestry. In Stage II we genotyped the top 48 SNPs that were associated with PAD in Stage I, in a replication cohort of 740 PAD cases (70±11 y, 63% men and 1051 controls (70±12 y, 61% men. Results: The SNP rs653178 in the ATXN2-SH2B3 locus was significantly associated with PAD in the discovery cohort (OR: 1.23; P=5.59x10-5, in the replication cohort (OR=1.22; 8.9x10-4 and in the combined cohort (OR=1.22; P-value: P=6.46x10-7. In the combined cohort this SNP remained associated with PAD after additional adjustment for cardiovascular risk factors including smoking (OR: 1.22; P=2.15x10-6 and after excluding patients with ABI >1.4 (OR: 1.237; P=3.98x10-7. The SNP is in near-complete linkage disequilibrium (r2=0.99 with a missense SNP (rs3184504 in SH2B3, a gene encoding an adapter protein that plays a key role in immune and inflammatory response pathways and vascular homeostasis. The SNP has pleiotropic effects and has been previously associated with multiple phenotypes including myocardial infarction. Conclusions: Our findings suggest that the ATXN2-SH2B3 locus influences susceptibility to PAD.

  7. Mathematical analysis of a multiple strain, multi-locus-allele system for antigenically variable infectious diseases revisited.

    Science.gov (United States)

    Cherif, Alhaji

    2015-09-01

    Many important pathogens such as HIV/AIDS, influenza, malaria, dengue and meningitis generally exist in phenotypically distinct serotypes that compete for hosts. Models used to study these diseases appear as meta-population systems. Herein, we revisit one of the multiple strain models that have been used to investigate the dynamics of infectious diseases with co-circulating serotypes or strains, and provide analytical results underlying the numerical investigations. In particular, we establish the necessary conditions for the local asymptotic stability of the steady states and for the existence of oscillatory behaviors via Hopf bifurcation. In addition, we show that the existence of discrete antigenic forms among pathogens can either fully or partially self-organize, where (i) strains exhibit no strain structures and coexist or (ii) antigenic variants sort into non-overlapping or minimally overlapping clusters that either undergo the principle of competitive exclusion exhibiting discrete strain structures, or co-exist cyclically.

  8. A Case of Autoimmune Hemolytic Anemia Associated with an Ovarian Teratoma

    OpenAIRE

    Kim, Ickkeun; Lee, Jue Yong; Kwon, Jung Hye; Jung, Joo Young; Song, Hun Ho; Park, Young lee; Ro, Eusun; Choi, Kyung Chan

    2006-01-01

    Autoimmune hemolytic anemia associated with an ovarian teratoma is a very rare disease. However, treating teratoma is the only method to cure the hemolytic anemia, so it is necessary to include ovarian teratoma in the differential diagnosis of autoimmune hemolytic anemia. We report herein on a case of a young adult patient who had severe autoimmune hemolytic anemia that was induced by an ovarian teratoma. A 25-yr-old woman complained of general weakness and dizziness for 1 week. The hemoglobi...

  9. 慢性阻塞性肺疾病合并贫血患者BODE变化%Study on the Changes of BODE Indexes in Patients with Chronic Obstructive Pulmonary Disease Complicated by Anemia

    Institute of Scientific and Technical Information of China (English)

    黄洁; 李承红

    2015-01-01

    目的:探讨慢性阻塞性肺疾病( COPD )急性加重期合并贫血患者的 BODE 指数变化。方法选择2010年5月至2013年1月江汉大学附属医院呼吸内科确诊的COPD急性加重期患者共273例。根据贫血标准分为两组,合并贫血的COPD患者(贫血组)40例,非贫血的COPD患者(非贫血组)随机选取40例。比较两组患者 BODE 指数,并对结果进行统计学分析。结果合并贫血的COPD患者发生率为14.6%,贫血组BODE指数高于非贫血组,差异有统计学意义( P<0.01)。其中体质指数、6 min步行试验距离、呼吸困难量表与非贫血组差异均有统计学意义(均 P<0.01);两组患者肺功能指标( FEV1%,第1秒用力呼气容积占预计值百分比)比较差异无统计学意义( P >0.05)。结论贫血可恶化COPD运动耐量,影响患者生活质量,预后更差。%Objective To study the changes of BODE indexes in patients with chronic obstructive pul-monary disease(COPD) complicated by anemia.Methods A total of 273 patients diagnosed as acute exac-erbation of COPD in Department of Respiratory Medicine,the Affiliated Hospital of Jianghan University from May 2010 to Jan.2013 were selected as research objects,according to the standard of anemia,the patients were divided into two groups,patients with anemia as anemia group(40 cases) and patients without anemic as non-anemia group(40 cases).BODE indexes of the two groups were compared and statistically analyzed. Results Incidence of anemia in patients with COPD was 14.6%,BODE indexes of the anemia group were higher than non-anemic group,there were statistically significant differences(P0.05 ) .Conclusion Although the influence of anemia on pulmonary function in COPD patients has no statistically significant difference , anemia will worsen the COPD exercise tolerance , and impact on the quality of life in patients with poor prognosis .

  10. Anemia in patients with diabetes mellitus

    Directory of Open Access Journals (Sweden)

    Dimković Nada

    2007-01-01

    Full Text Available Introduction: Anemia is more common and pronounced in patients with diabetic, than in patients with non-diabetic renal disease. While several factors contribute to its pathogenesis, the failure of the kidney to increase erythropoietin in response to falling hemoglobin appears to be the dominant factor. The most frequent complications of anemia in diabetic patients include decreased quality of life and work capacity and increased cardiovascular morbidity and mortality. Material and Methods: This cross-sectional multicenter study included a total of 539 patients with type I (~20% and type II diabetes (~80% classified into five stages according to the glomerular filtration rate. Results Diabetic nephropathy appears in stage I, and progresses in all patients to the stage V (p=0.045. The presence of anemia progressively increased from stage I to stage V (from 60% to 100%, p=0.008. Only 62% of patients with anemia were treated (mainly with iron and only 3.4% received erythropoietin treatment. Hypertension was present in 90% of patients in stage I and in 100% of patients in stage V nephropathy. The presence of heart failure increased from 0% (stage I to 51% (stage IV, p=0.03. Around 62% of patients were referred to a nephrologist, and according to the logistic regression model, renal failure and presence of anemia were significant predictors of patients' referral to nephrologist. Conclusion: In a primary care setting, anemia is a frequent finding, even in the very beginning of diabetic renal disease. Currently available guidelines for management of anemia are not followed; this may explain high percentage of patients with heart failure in pre-dialysis stage. Early referral to a nephrologist and regular follow-up by an endocrinologist and cardiologist are the best way for the prevention of diabetic complications and comorbidity.

  11. Relationship between anemia and stable chronic obstructive pulmonary disease in elderly patients%老年稳定期慢性阻塞性肺疾病贫血临床分析

    Institute of Scientific and Technical Information of China (English)

    李蔚; 陈果

    2011-01-01

    目的 探讨老年稳定期慢性阻塞性肺疾病(COPD)患者贫血的发生情况及其影响因素.方法 选择老年稳定期COPD患者60例,测定其血常规、C反应蛋白(CRP)、肺功能(FEV1%预计值、FEV1/FVC)、身高和体重,计算体重指数(BMI).根据血红蛋白浓度(Hb)分为贫血组和非贫血组,比较两组性别、年龄、吸烟指数(包年数)、CRP、肺功能、BMI、近一年因急性加重使用抗生素次数的差异.结果 贫血组11例,非贫血组49例,贫血发生率为18.3%;贫血组平均年龄、CRP水平及近一年因急性加重使用抗生素次数高于非贫血组(P0.05).结论 老年COPD患者贫血发生率较高,贫血可能与反复气道感染及慢性炎症有关,高龄可能为影响COPD患者贫血的相关因素.%Objective To evaluate the incidence of anemia and its relevant factors in elderly patients with stable chronic obstructive pulmonary disease ( COPD).Methods Sixty elderly patients with stable COPD were enrolled.Routine blood test, C-reactive protein ( CRP) pulmonary function ( FEVl/pred,FEV1/FVC) and body mass index ( BMI) were measured or calculated in all cases.All the patients were further divided into two groups based on whether anemia existed, and patients' sex, age, smoking index,CRP, pulmonary function, BMI and antibiotic usage frequency were observed in the two groups.Results The degrees of anemia correlated with patients' age, CRP and repeated airway infection (P < 0.05 ).Sex, smoking index, pulmonary function and BMI were not different significantly between the two groups ( P > 0.05 ).Conclusions In elderly COPD patients, the incidence of anemia is high.Anemia may be correlated with repeated airway infection and chronic inflammation.Advanced age is a relevant factor of anemia in COPD patients.

  12. Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.

    Science.gov (United States)

    Mowat, D R; Croaker, G D; Cass, D T; Kerr, B A; Chaitow, J; Adès, L C; Chia, N L; Wilson, M J

    1998-08-01

    We have identified six children with a distinctive facial phenotype in association with mental retardation (MR), microcephaly, and short stature, four of whom presented with Hirschsprung (HSCR) disease in the neonatal period. HSCR was diagnosed in a further child at the age of 3 years after investigation for severe chronic constipation and another child, identified as sharing the same facial phenotype, had chronic constipation, but did not have HSCR. One of our patients has an interstitial deletion of chromosome 2, del(2)(q21q23). These children strongly resemble the patient reported by Lurie et al with HSCR and dysmorphic features associated with del(2)(q22q23). All patients have been isolated cases, suggesting a contiguous gene syndrome or a dominant single gene disorder involving a locus for HSCR located at 2q22-q23. Review of published reports suggests that there is significant phenotypic and genetic heterogeneity within the group of patients with HSCR, MR, and microcephaly. In particular, our patients appear to have a separate disorder from Goldberg-Shprintzen syndrome, for which autosomal recessive inheritance has been proposed because of sib recurrence and consanguinity in some families.

  13. 犬贫血性疾病输血疗法的疗效观察%The Blood Transfusion Treatment of Canine Anemia Disease

    Institute of Scientific and Technical Information of China (English)

    郭延敏; 任艳艳

    2012-01-01

    输血疗法是救治动物的一项重要措施.为了验证输血疗法的作用,对数十例贫血病病犬进行输血疗法治疗,通过血常规检查、血液生化学检查等发现患犬均患有不同程度的贫血,红细胞数、血红蛋白含量、红细胞压积均明显低于正常值,在治疗原发病的同时配合了输血疗法.经过一段时间的治疗,发现应用输血疗法治疗的患犬痊愈快,患犬的红细胞数、血红蛋白含量、红细胞压积均逐渐升高接近正常值.由此可见,输血疗法对犬贫血病的治疗效果较好.%Blood transfusion is an important method for remedying animals. In order to verify the effect of blood transfusion therapy, the experiment used symptomatic treatment combing blood transfusion therapy to cure the troubled canines. Blood routine examination, blood biochemical analysis and other examination were done and found that those canines were troubled with different degrees of anemia, with lower red cells, heamoglobin and volume packed red cells. The diseased canines were treated with blood transfusion. Some time later after the therapy,the sick canines were healed quicker. At the same time,the blood routine examination and biochemical analysis were done to the cured canines,the results showed that the red cells,heamoglobin and volume packed red cells were heighten obviously to the range of normal values. Therefore, the blood transfusion therapy got better effect than traditional therapy.

  14. Clustering and age of onset in familial late onset Alzheimer`s disease are determined at the apoliopoprotein E locus

    Energy Technology Data Exchange (ETDEWEB)

    Houlden, H.; Rossor, M. [St. Mary`s Hospital Medical School, London (United Kingdom)

    1994-09-01

    Recent work has demonstrated that the apolipoprotein E (ApoE) genotype is of great importance in the etiology of Alzheimer`s disease (AD). Thus, inheritance of the ApoE4 allele predisposes to the occurrences of late onset disease and decreases the onset age in families with pathogenic mutations in the amyloid precursor protein gene. We analysed ApoE genotypes in 35 families multiply affected by AD and confirm that familial clustering in late onset AD is associated with the ApoE4 allele. This allele occurs in the great majority (82%) of late onset familial Alzheimer cases. Elderly unaffected sibs (80-90 years) have an allele frequency that is not significantly different to that of normal controls. Data presented from our family sets together previously published data is suggestive that the effect of a single ApoE4 allele is to increase the risk of developing AD by an amount equivalent to 5 years and that the effect of ApoE4 homozygosity is to increase the risk of developing AD by an amount equivalent to 10 years of age. Data shows significant difference between the frequency of the ApoE4 allele in the familial AD probands and controls and in both sets of unaffected sibs, p<0.01.

  15. Evaluation of Macrocytic Anemias.

    Science.gov (United States)

    Green, Ralph; Dwyre, Denis M

    2015-10-01

    Macrocytic anemia, defined as a mean cell volume (MCV) ≥100 fL in adults, has a narrow differential diagnosis that requires evaluation of the peripheral blood smear as well as additional laboratory testing taken in conjunction with clinical information that includes patient history and physical examination findings. This review is an update on the approach to a patient with macrocytic anemia with attention paid to the differentiation of megaloblastic and non-megaloblastic macrocytic anemias. Critical to the determination of the diagnosis is the judicious use of laboratory testing and the evaluation of those findings in conjunction with the patient medical, surgical, and medication history.

  16. Relation between blood lead levels and childhood anemia in India.

    Science.gov (United States)

    Jain, Nitin B; Laden, Francine; Guller, Ulrich; Shankar, Anoop; Kazani, Shamsah; Garshick, Eric

    2005-05-15

    Lead pollution is a substantial problem in developing countries such as India. The US Centers for Disease Control and Prevention has defined an elevated blood lead level in children as > or = 10 microg/dl, on the basis of neurologic toxicity. The US Environmental Protection Agency suggests a threshold lead level of 20-40 microg/dl for risk of childhood anemia, but there is little information relating lead levels anemia. Therefore, the authors examined the association between lead levels as low as 10 mug/dl and anemia in Indian children under 3 years of age. Anemia was divided into categories of mild (hemoglobin level 10-10.9 g/dl), moderate (hemoglobin level 8-9.9 g/dl), and severe (hemoglobin level Lead levels lead levels > or = 10-19.9 microg/dl and 97 (9%) had levels > or = 20 microg/dl. After adjustment for child's age, duration of breastfeeding, standard of living, parent's education, father's occupation, maternal anemia, and number of children in the immediate family, children with lead levels > or = 10 microg/dl were 1.3 (95% confidence interval: 1.0, 1.7) times as likely to have moderate anemia as children with lead levels anemia was 1.7 (95% confidence interval: 1.1, 2.6). Health agencies in India should note the association of elevated blood lead levels with anemia and make further efforts to curb lead pollution and childhood anemia.

  17. Anemia associated with chronic heart failure: current concepts

    Directory of Open Access Journals (Sweden)

    Shah R

    2013-02-01

    Full Text Available Ravish Shah, Anil K AgarwalDivision of Nephrology, The Ohio State University, Columbus, Ohio, USAAbstract: Anemia is a frequent comorbidity of heart failure and is associated with poor outcomes. Anemia in heart failure is considered to develop due to a complex interaction of iron deficiency, kidney disease, and cytokine production, although micronutrient insufficiency and blood loss may contribute. Currently, treatment of anemia of heart failure lacks clear targets and specific therapy is not defined. Intravenous iron use has been shown to benefit anemic as well as nonanemic patients with heart failure. Treatment with erythropoietin-stimulating agents has been considered alone or in combination with iron, but robust evidence to dictate clear guidelines is not currently available. Available and emerging new agents in the treatment of anemia of heart failure will need to be tested in randomized, controlled studies.Keywords: anemia, heart failure, chronic kidney disease, elderly population

  18. [Case report: hookworm infection in a patient with severe anemia].

    Science.gov (United States)

    Yilmaz, Hasan; Taş Cengiz, Zeynep; Ciçek, Mutalip; Dülger, Ahmet Cumhur

    2009-01-01

    In this study, a patient who was hospitalized with a severe anemia in the Internal Medicine Clinic of the Health Research and Application Hospital of Yüzüncü Yil University for one week is presented. The patient had fatigue, paleness and dizziness for one month and approximately 12 kg weight lost for four mounts previous to admission.. Severe iron deficiency anemia was diagnosed in the patient by laboratory analyses. Because there were no hematologic factors associated with severe anemia, the stool examination was also performed. In the Parasitology Laboratory, stool microscopy of the patient revealed numerous ova of hookworm. General condition of the patient well improved with anti-parasitic and anti-anemia treatment. It was concluded that patients with iron deficiency anemia diagnosed in health centers should be also examined for the intestinal parasitic diseases encountered rarely, and physicians should consider non-endemic parasitic diseases in their provinces.

  19. Investigation of the Genetics of Hematologic Diseases

    Science.gov (United States)

    2017-03-01

    Bone Marrow Failure Syndromes; Erythrocyte Disorder; Leukocyte Disorder; Hemostasis; Blood Coagulation Disorder; Sickle Cell Disease; Dyskeratosis Congenita; Diamond-Blackfan Anemia; Congenital Thrombocytopenia; Severe Congenital Neutropenia; Fanconi Anemia

  20. Association of rs10757274 and rs2383206 Polymorphisms on 9p21 locus with Coronary Artery Disease in Turkish Population

    Science.gov (United States)

    Okyay, Kaan; Yılmaz, Akın; Şahinarslan, Asife; Yar Sağlam, Atiye Seda; Eyiol, Azmi; Bolayır, Hasan Ata; Sezenöz, Burak; Menevşe, Sevda; Çengel, Atiye

    2016-01-01

    Background and Objectives Genetic predisposition is an important risk factor for coronary artery disease (CAD). In this study, we aimed to evaluate the impact of rs10757274 and rs2383206 polymorphisms in chromosome 9p21 on presence and severity of CAD in a Turkish population. Subjects and Methods A total of 646 patients who underwent coronary angiography were included in this study. Coronary vessel score and Gensini score were calculated to assess the angiographic severity of CAD. Alleles of AA, AG, and GG were determined for rs10757274 (polymorphism-1) and rs2383206 (polymorphism-2) polymorphisms located in chromosome 9p21 from the blood samples. Results There was a significant difference between the alleles in polymorphism-1 in the presence of coronary artery disease (38.9% in AA, 48.0% in GG and 56.4% in AG, p=0.017). However, there was no difference between the alleles in polymorphism-2. According to vessel scores, there was a significant difference between the alleles in polymorphism-1 (AA 0.71±1.04, GG 0.88±1.07, AG 1.06±1.12, p=0.018). In polymorphism-2, vessel scores did not show a difference between the alleles. In polymorphism-1, there was a significant difference in Gensini score (p=0.041). Gensini scores did not differ between the alleles in polymorphism-2 (p>0.05 for all). In multivariate analyses, none of the alleles was an independent factor for presence of CAD. Conclusion The presence of rs10757274 polymorphism including AG allele in chromosome 9p21 was related to CAD. However, this relationship was not independent of other cardiovascular risk factors. PMID:27721851

  1. Anemia hemolítica auto-imune e outras manifestações imunes da leucemia linfocítica crônica Autoimmune hemolytic anemia and other autoimmune diseases related to chronic lymphocytic leukemia

    OpenAIRE

    Bordin,José O.

    2005-01-01

    A leucemia linfocítica crônica (LLC) é freqüentemente associada a manifestações auto-imunes principalmente relacionadas às células do sistema hematopoético causando anemia hemolítica auto-imune (AHAI), púrpura trombocitopênica imune (PTI), aplasia pura de série vermelha (APSV), e neutropenia imune. A LLC é diagnosticada em até 15% dos pacientes com AHAI, e em cerca de 50% dos pacientes com AHAI secundária a doença maligna. A PTI ocorre em 2%, e a APSV em 1% dos pacientes com LLC. Prednisona é...

  2. Fanconi anemia and radiation

    Energy Technology Data Exchange (ETDEWEB)

    Nakamura, Asako; Komatsu, Kenshi [Hiroshima Univ. (Japan). Research Inst. for Nuclear Medicine and Biology

    1999-09-01

    Aplastic Fanconi anemia (FA) accompanying malformation was firstly reported in 1927. This review concerns the recent findings on FA. FA belongs to the chromosomal instability syndrome and its detailed molecular mechanism is still unknown. The disease has been defined to be highly sensitive to radiation, however, which is quite an important problem since irradiation with a large dose of radiation is required before its radical treatment (bone marrow transplantation). FA cells are also mitomycin C-sensitive and FA patients are said to be the mosaic of the sensitive and normal cells. This enables to classify FA into 8 types of A-H groups, whose genotypes (FAA-FAH, FANCA-FANCH) are becoming clear. However, the intracellular function of the FANC-expressed protein, although known to form a big complex, is not elucidated yet. There is an abnormality in DNA processing such as re-linkage of the double strand-broken DNA in FA cells. FA causal gene FANCG is found identical to XRCC9 which is associated to high sensitivity to radiation. Analysis of FANC genes will provide useful findings on molecular mechanism of DNA-repair. (K.H.)

  3. [Structural analysis for psychosocial factors including health locus of control (HLC) and sense of coherence (SOC) associated with lifestyle-related diseases].

    Science.gov (United States)

    Ogawa, Y; Nakamura, H; Nagase, H; Ogino, K; Ooshita, Y; Tsukahara, S

    2001-01-01

    The purpose of this study was to clarify psychosocial characteristics associated with preventive health behavior for lifestyle-related diseases. The author performed objective health examinations and gave questionnaires to 289 men (39.7 +/- 11.8 years, mean +/- SD) and 80 women (32.8 +/- 10.4 years) engaged in office work. Psychosocial factors included lifestyle and perceived stress, as well as the health locus of control (HLC) and sense of coherence (SOC) as newly developed indicators for health behavior. The principal component analysis for men did not extract lifestyle from the psychosocial structures. Multiple regression analysis showed that internal HLC (IHLC), chance HLC (CHLC), professional HLC (PHLC) and stress significantly contributed to SOC. Principal component analysis using psychosocial factors in women showed two psychosocial structures, i.e. the second principal (high SOC, high lifestyle, and low stress) and the 4th principal components (high supernatural HLC, and high PHLC). Both components were negatively correlated with systolic blood pressure. SOC was recognized to be negatively associated with age, stress, and total cholesterol, and positively with IHLC, FHLC, lifestyle, and gamma-GTP using multiple regression analysis for women. These results indicated a distinguishable sex difference regarding the involvement of psychosocial factors including HLC and SOC in objective health. SOC seems likely to be involved not in objective health, but closely with stress, suggesting a direct influence on mental health. Lifestyle should be divided into more detailed categories such as smoking and salt intake. Structural analysis of women suggests that SOC is involved directly or indirectly through lifestyle in objective health, different from men. To further clarify causal relationships between psychosocial factors and risk factors for lifestyle-related diseases, a longitudinal study is necessary based on these results.

  4. Initial diagnosis of anemia from sore mouth and improved classification of anemias by MCV and RDW in 30 patients.

    Science.gov (United States)

    Lu, Shin-Yu; Wu, Hong-Cheng

    2004-12-01

    Thirty patients with a wide range of sore mouth that led to the diagnosis of iron deficiency in 12 patients, pernicious anemia in 8 patients, combined deficiency of iron and vitamin B12 in 2 patients, and anemia of chronic disease in 8 patients were investigated. The oral signs and symptoms included glossitis, glossodynia, angular cheilitis, recurrent oral ulcer, oral candidosis, diffuse erythematous mucositis, and pale oral mucosa. The values of hemoglobin in 30 patients varied from normal to severe life-threatening levels, but none had developed generalized symptoms sufficiently advanced to arouse suspicions of anemia before they visited the Oral Medicine Clinic. The aim of this paper is to describe a retrospective study of 30 patients with oral changes as the initial manifestation of nutritional deficiency or anemia of chronic diseases. Improved diagnosis and classification of anemia based on the mean and heterogeneity of red cell size will be discussed.

  5. What Is Anemia?

    Science.gov (United States)

    ... Treatment will depend on the cause of the anemia and how severe it is. Rate This Content: NEXT >> Updated: May 18, 2012 Twitter Facebook YouTube Google+ SITE INDEX ACCESSIBILITY PRIVACY STATEMENT FOIA NO FEAR ACT OIG ...

  6. Living with Fanconi Anemia

    Science.gov (United States)

    ... from the NHLBI on Twitter. Living With Fanconi Anemia Improvements in blood and marrow stem cell transplants ... November 1, 2011 Twitter Facebook YouTube Google+ SITE INDEX ACCESSIBILITY PRIVACY STATEMENT FOIA NO FEAR ACT OIG ...

  7. How Is Anemia Treated?

    Science.gov (United States)

    ... such as beef or liver), as well as chicken, turkey, pork, fish, and shellfish. Nonmeat foods that ... cause of anemia. Some of these medicines include: Antibiotics to treat infections. Hormones to treat heavy menstrual ...

  8. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... chest pain, and other symptoms. Severe iron-deficiency anemia can lead to heart problems, infections, problems with growth and development in children, and other complications. Infants and young children and ...

  9. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... CAUSES WHO IS AT RISK SIGNS & SYMPTOMS DIAGNOSIS TREATMENTS PREVENTION LIVING WITH CLINICAL TRIALS LINKS Related Topics ... Doctors usually can successfully treat iron-deficiency anemia. Treatment will depend on the cause and severity of ...

  10. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Digg. Share this page from the NHLBI on Facebook. Add this link to the NHLBI to my ... Deficiency Anemia article. Updated: March 26, 2014 Twitter Facebook YouTube Google+ SITE INDEX ACCESSIBILITY PRIVACY STATEMENT FOIA ...

  11. Nutritional anemia and AIDS

    OpenAIRE

    Ruíz, Óscar; Instituto de Investigaciones Clínicas, UNMSM; Díaz, David; Instituto de Investigaciones Clínicas, Facultad de Medicina, UNMSM, y Hospital Nacional Dos de Mayo; Castillo, Óscar; Instituto de Investigaciones Clínicas, UNMSM; Reyes, Rafael; Instituto de Investigaciones Clínicas, UNMSM; Marangoni, Manuela; Programa PROCETSS, Hospital Nacional Dos de Mayo; Ronceros, Gerardo; Instituto de Investigaciones Clínicas, Facultad de Medicina, UNMSM

    2013-01-01

    Objectives: To determine the type of anemia most frequent in patients with AIDS and the various degrees of anemia. Material and methods: One hundred patients 18 to 60 year-old infected with human immune deficiency virus (HIV) with residence in Lima and Callao were studied from January to December 2001 for blood count bone marrow aspiration, serum iron, transferrin, ferritin, folate and vitamin B12 levels. Samples were evaluated at the “Dos de Mayo” Hospital Clinical Pathology Department. Resu...

  12. Colonic lymphangiomatosis associated with anemia

    Institute of Scientific and Technical Information of China (English)

    Woo Chul Chung; Hye-Kang Kim; Jin Young Yoo; Jeong Rok Lee; Kang-Moon Lee; Chang Nyol Paik; U-Im Jang; Jin Mo Yang

    2008-01-01

    lymphangioma is an uncommon malformation of lymphatic system.Multiple colonic lymphangioma named as lymphangiomatosis is considered an extremely rare disease.Although lymphangioma is a benign tumor and most colonic lymphangiomas do not cause symptoms and do not require treatment,resection of lymphangioma is necessary in the presence of symptoms such as abdominal pain,bleeding,intussusceptions.We report a case of colonic lymphangiomatosis in a man who presented with abdominal discomfort and anemia,which was diagnosed and treated with endoscopic snare polyperctomy.

  13. The Role of Health Locus of Control in Predicting Depression ‎Symptoms in a Sample of ‎Iranian Older Adults with Chronic ‎Diseases

    Directory of Open Access Journals (Sweden)

    Abdul-Aziz Aflakseir

    2016-06-01

    Full Text Available Objective: The purpose of this study was to examine the prediction of depression on a group of ‎Iranian older adults based on components of health locus of control.‎Method: Sixty-six men and 42 women over the age of 55 were recruited from the retirement ‎clubs in Shiraz, using convenience sampling. The participants completed the research ‎questionnaires including the Geriatric Depression Scale (GDS and the ‎Multidimensional Health Locus of Control Scale (MHLC.‎Results: The findings on health locus of control revealed that the highest score was on internal ‎locus of control followed by God, powerful others and chance. The mean score on ‎depression was on a normal range. Multiple regression analysis showed that two ‎independent variables including internal control (ß = -.32, p < 0.01 and God control ‎‎(ß = -.20, = p < 0.03 significantly predicted depression. The other components of ‎health locus of control such as chance and powerful others as well as age did not ‎predict depression. Findings also revealed that the independents variables explained ‎‎26% of the total variance of depression (R2 = .26, p <0.001.‎Conclusion: This study provides more support for the application of theory of health locus of ‎control on depression.‎‎

  14. 稳定期慢性阻塞性肺疾病患者贫血临床分析%Relationship between Anemia and Stable Chronic Obstructive Pulmonary Disease

    Institute of Scientific and Technical Information of China (English)

    陆卫光; 盛泽波; 刘璇

    2015-01-01

    Objective To explore the incidence of anemia and its relevant factors in stable chronic obstructive pulmonary disease (COPD).Methods Ninty-six patients with stable COPD were enrol ed. Routine blood test,C-reactive protein(CRP) ,albumin,pulmonary function(FEV1pre),body mass index,dyspnea with the Modified British Medical Research Council(mMRC),the patients with two or more exacerbation in the preceding year were measured or calculated. Al patients were divided into two groups based on whether anemia existed,and patient's age,CRP,ALB,FEV1 pre, mMRC,BMI,the ratio of hospitalization due to two or more exacerbation in the preceding year were analyzed.Results Twelve cases were anemia group and the incidence of anemia was 12.5%.The degree of anemia group cor elated with patient's age,CRP, mMRC, and the ratio of hospitalization due to two or more exacerbation in the preceding year was higher than non-anemia group ( 0.05).Conclusion The prevalence of anemia is not rare in stable COPD, inflammation and malnutrition is associated with anemia.%目的探讨稳定期慢性阻塞性肺疾病(COPD)患者贫血的发生率和影响因素。方法对96例稳定期COPD患者检测血常规、C反应蛋白(CRP)、白蛋白(ALB)、肺功能(FEV1%预计值)、呼吸困难分级、过去1年因急性加重而住院≥2次的人数、身高和体重、计算体质指数(BMI)。根据血红蛋白浓度(Hb)分为贫血组和非贫血组,比较两组间年龄、CRP、BMI、ALB、FEV1%、mMRC、去年1年因急性加重而住院≥2次的住院人数比例有无统计学差异。结果贫血组12例,非贫血组84例,贫血发生率12.5%;贫血组平均年龄、CRP、mMRC、去年1年因急性加重而住院≥2次的住院人数比例高于非贫血组(<0.05);ALB、BMI低于非贫血组(<0.05);两组FEV1%无统计学差异(跃0.05)。结论稳定期COPD患者并发贫血并不少见,系统性炎症和营养不良可导致贫血。

  15. Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities.

    Directory of Open Access Journals (Sweden)

    Adam C Naj

    2010-09-01

    Full Text Available Genome-wide association studies (GWAS of late-onset Alzheimer disease (LOAD have consistently observed strong evidence of association with polymorphisms in APOE. However, until recently, variants at few other loci with statistically significant associations have replicated across studies. The present study combines data on 483,399 single nucleotide polymorphisms (SNPs from a previously reported GWAS of 492 LOAD cases and 496 controls and from an independent set of 439 LOAD cases and 608 controls to strengthen power to identify novel genetic association signals. Associations exceeding the experiment-wide significance threshold (alpha=1.03x10(-7 were replicated in an additional 1,338 cases and 2,003 controls. As expected, these analyses unequivocally confirmed APOE's risk effect (rs2075650, P=1.9x10(-36. Additionally, the SNP rs11754661 at 151.2 Mb of chromosome 6q25.1 in the gene MTHFD1L (which encodes the methylenetetrahydrofolate dehydrogenase (NADP+ dependent 1-like protein was significantly associated with LOAD (P=4.70x10(-8; Bonferroni-corrected P=0.022. Subsequent genotyping of SNPs in high linkage disequilibrium (r2>0.8 with rs11754661 identified statistically significant associations in multiple SNPs (rs803424, P=0.016; rs2073067, P=0.03; rs2072064, P=0.035, reducing the likelihood of association due to genotyping error. In the replication case-control set, we observed an association of rs11754661 in the same direction as the previous association at P=0.002 (P=1.90x10(-10 in combined analysis of discovery and replication sets, with associations of similar statistical significance at several adjacent SNPs (rs17349743, P=0.005; rs803422, P=0.004. In summary, we observed and replicated a novel statistically significant association in MTHFD1L, a gene involved in the tetrahydrofolate synthesis pathway. This finding is noteworthy, as MTHFD1L may play a role in the generation of methionine from homocysteine and influence homocysteine

  16. 日本和中国的慢性病人多方面健康控制点的研究%Studies on the multidimensional health locus of control (MHLC) in Japanese and Chinese Patients with chronic diseases

    Institute of Scientific and Technical Information of China (English)

    梶田悦子; 江藤真纪; 镜森定信; 毕力夫

    2005-01-01

    1 Introduction Behavioural modification is considered to be a fundamental element of education for patients,with the aim of a healthy life. Since patients with chronic diseases have lifestyles that are already acquired, it is not so easy to change them, even during treatment. Therefore, it is important to know about the health belief of patients; where the health locus of control is located in their concept of belief,

  17. Idiopathic aplastic anemia: diagnosis and classification.

    Science.gov (United States)

    Dolberg, Osnat Jarchowsky; Levy, Yair

    2014-01-01

    Aplastic anemia (AA) is a disease characterized by pancytopenia and hypoplastic bone marrow caused by the decrease of hematopoietic stem cells. The pathogenesis of AA is complex and involves an abnormal hematopoietic microenvironment, hematopoietic stem cell/progenitor cell deficiencies and immunity disorders. Survival in severe aplastic anemia (SAA) has markedly improved in the past 4 decades because of advances in hematopoietic stem cell transplantation, immunosuppressive and biologic drugs, and supportive care. Herein, we will update the main issues concern AA according to our literature review.

  18. HEMOLYTIC ANEMIA IMUNNE-MEDIATED IN DOGS

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    R. C. Castilho

    2016-11-01

    Full Text Available Due to the reduction in the number of red blood cells, caused by the immune system, the immune-mediated hemolytic anemia (IMHA is the most common disease among the hemolytic anemias and occurs more frequently in dogs (Nelson & Couto, 2010, wherein the most affected breeds are Cocker Spaniel, Poodle, Doberman and Collie (ETTINGER; FELDMAN 2004; THRALL et al 2007.. There is no pathognomonic sign for the diagnosis of the immune-mediated hemolytic anemia; however, laboratory findings show regenerative anemia, spherocytosis, positive results in Coombs' test and rarely, monocytes with hemosiderin or erythrocytes phagocytosis, but even with these findings, the primary and secondary IMHA can not be differentiate from each other. Differentiation can only be achieved when there is a deep investigation into the cause of the anemia. The IMHA therapeutics starts with the support treatment and follows with an immunosuppressive therapy. In relation to IMHA Mortality rates, the numbers range from 25% to 50% (Thrall, 2007, or above 70% (CARR; Panciera; Kidd, 2002.

  19. A study of the anemia statues of the chronic kidney disease patient attending the kidney outpatient service.%肾病门诊慢性肾脏疾病患者贫血情况调查

    Institute of Scientific and Technical Information of China (English)

    刘旭; 尹道馨; 徐睿; 张东亮; 刘文虎

    2011-01-01

    目的 了解慢性肾脏疾病(CKD)患者的贫血状况,对贫血相关因素进行分析,为采取相应对策改善患者贫血状况提供依据.方法 采用筛查的方法,对北京友谊医院就诊的129例慢性肾脏病患者进行问卷调查,抽取血样标本化验相应指标,应用统计软件进行分析.结果 对129例调查对象进行慢性肾脏病分期,Ⅳ期患者血红蛋白平均值显著低于Ⅱ期患者(P<0.001),Ⅳ期患者贫血发生率、促红细胞生成素治疗率和铁剂治疗率显著高于Ⅱ期患者(P<0.05).单因素分析显示,女性与CKD患者贫血发生相关(χ2=8.293,P=0.004).多因素分析显示,女性(OR= 3.679; 95% CI:1.383~9.783;P= 0.009)、体质指数(BMI)≥24(OR= 5.155;95% CI:1.380-19.254; P=0.015)为CKD患者发生贫血的独立危险因素.结论 女性患者和肥胖患者是CKD患者中贫血的高发人群,更应引起重视.慢性肾脏病患者补充促红细胞生成素和铁剂的治疗还需进一步完善.%Objective To investigate the factors that might be related to the anemia status of the chronic kidney disease patient attending the Beijing Friendship Hospital, in order to improve the treatment of patients with anemia. Methods One hundred and twenty nine patients with chronic attending the kidney outpatient service of Beijing Friendship Hospital took blood tests and were surveyed with questionnaire. Statistical analysis was made by SPSS version 16.0. Results 129 patients with chronic kidney disease were classified in 5 stages. Hemoglobin value in patients with stage Ⅳ was significantly lower than that in patients with stage Ⅱ ( P < 0. 001 ). Patients with stage Ⅳ had a higher incidence of anemia and higher treatment rate with erythropoietin therapy, respectively, than patients with stage Ⅱ ( P < 0.05 ). Female showed consistent association with anemia by univariate analysis ( x2 = 8.293, P=0. 004 ). Multivariate analysis demonstrated Female and body mass index ( BMI ) ≥ 24

  20. 慢性阻塞性肺疾病急性加重期合并贫血的临床分析%Clinical analysis of chronic obstructive pulmonary disease with acute exacerbation patients with anemia

    Institute of Scientific and Technical Information of China (English)

    高海燕; 陈希胜; 张文艳; 刘亚明; 孙海峰

    2011-01-01

    Objective To analysis the clinical significance of chronic obstructive pulmonary disease with acute exacerbation (AECOPD) patients with anemia. Methods Selecte 99 cases of patients hospitalized patients with AECOPD, record gender, age, length of hospital stay, CRP, albumin, arterial blood gases, lung function, height, weight, severity classification, the use of ventilator and other clinical parameters. Retrospective analysis of RBC parameters, FEV1 percentage of predicted value, body mass index, serum albumin, length of stay and other parameters between anemia and no-anemia groups,anemia mainly for mild to moderate anemia, RBC parameters of the anemia group were lower than nonnon-anemic, lower blood albumin, higher CRP. Conclusions Anemia group has long hospital stay,serious inflammatory response, greater protein consumption, need to strengthen anti-inflammatory therapy, nutritional support, facilitate disease recovery.%目的 探讨慢性阻塞性肺疾病急性加重期(AECOPD)患者合并贫血的临床意义.方法选取AECOPD住院患者病例99例,记录患者性别,年龄、住院时间、血常规、C反应蛋白(CRP)、血清白蛋白、动脉血气、肺功能,身高、体质量、严重程度分级、呼吸机使用情况等临床指标.以COPD患者是否贫血分为两组,回顾性分析红细胞参数,FEV1占预计值%、体质量指数(BMI),血清白蛋白、住院时间等参数组间差异,分析血红蛋白水平与各临床参数间相关性.结果①AECOPD合并贫血主要表现为轻中度贫血,贫血组各项红细胞参数除红细胞体积外均较非贫血组低;②血红蛋白水平与住院天数、CRP、FEV1占预计值%呈负相关,与血清白蛋白呈正相关,而与年龄、转归、吸烟情况,咳喘年数、氧合指数、BMI、COPD严重程度分级不相关;③贫血组住院天数较非贫血组明显延长,血清白蛋白较低,CRP较高,而贫血组年龄、BMI、FEV1%、氧合指数与非贫血组比较,差异无统计学

  1. Use Massive Parallel Sequencing and Exome Capture Technology to Sequence the Exome of Fanconi Anemia Children and Their Patents

    Science.gov (United States)

    2013-11-21

    Fanconi Anemia; Autosomal or Sex Linked Recessive Genetic Disease; Bone Marrow Hematopoiesis Failure, Multiple Congenital Abnormalities, and Susceptibility to Neoplastic Diseases.; Hematopoiesis Maintainance.

  2. Megaloblastic anemia in Japan

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    Taguchi,Hirokuni

    1978-08-01

    Full Text Available Since 1903, 744 cases of megaloblastic anemia have been reported in Japan: 490 cases of pernicious anemia; 95 cases associated with pregnancy; 66 cases after gastrectomy; 22 cases of megaloblastic anemia of infants; 21 cases of folic acid deficiency other than pregnancy and 19 cases of vitamin B12 malabsorption after ileal resection. It is generally agreed among hematologists in Japan that pernicious anemia is relatively rare, as in other Asian countries. The diagnosis of pernicious anemia in Japan is usually made by stained marrow films, radioisotopic assay of serum vitamin B12, Schilling test and good response to vitamin B12 therapy. Serum folate level, intrinsic factor or its antibody, methylmalonic acid excretion, formiminoglutamic acid excretion and deoxyuridine suppression test are performed only at a small number of laboratories. The drugs of choice are hydroxocobalamin, deoxyadenosylcobalamin and methylcobalamin. Cyanocobalamin has nearly disappeared from commercial sources in Japan. Vitamin B12 administration is common in patients with neurological disorders. Megaloblastic anemia due to folic acid deficiency is extremely rare in Japan. Low serum folate levels are frequently observed among patients receiving anticonvulsants or in pregnant women, but in such samples megaloblastic anemia is almost never detected. The folic acid content of hospital diets indicates that satisfactory amounts of folate are taken in Japan. The intake of folic acid from rice is well over the minimum daily requirement of folate. Other factors in folic acid deficiency, such as food taboos, severe alcoholism and malabsorption syndrome are not frequently found in Japanese. The inadequate intake of folate was the critical factor in most reported cases.

  3. 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 Sanemia with reticulocytopenia was later shown to have had transient aplastic crisis.

  4. The prevalence and characteristics of anemia in Crohn's disease in the Chinese%中国人群克罗恩病患者贫血的发生率及临床特点分析

    Institute of Scientific and Technical Information of China (English)

    唐睿晗; 晁康; 张盛洪; 陈白莉; 何瑶; 高翔; 曾志荣; 胡品津; 陈旻湖

    2013-01-01

    Objective To investigate the prevalence and characteristics of anemia among patients with Crohn's disease (CD) in Chinese population and identify the possible risk factors.Methods A crosssectional study was performed in 441 patients with CD enrolled from the First Affiliated Hospital of Sun YatSen University between January 2003 and May 2012.The prevalence,severity,type of anemia in these patients was assessed when diagnosis was confirmed.A multivariate logistic regression including 122 patients was performed to screen risk factors of anemia.Results The prevalence of anemia was 64.4% (284/441)with 69.0% (196/284) mild anemia,28.9% (82/284) moderate anemia and 2.1% (6/284) severe anemia.The most common morphological classification was hypochromic microcytic anemia (43.7%,124/284).Multivariate logistic regression showed the predictive factors for anemia were higher levels of modified Crohn's disease activity index (CDAI) (OR =1.007,95% CI 1.002-1.013),platelet count(OR =1.007,95% CI 1.001-1.012),erythrocyte sedimentation rate (OR =1.024,95% CI 1.000-1.048),penetrating behavior (OR =16.952,95% CI 2.626-108.626),structuring behavior(OR =6.717,95% CI1.583-28.507),older age at diagnosis (OR =1.065,95% CI 1.012-1.121),and lower body mass index (BMI) (OR =0.769,95% CI O.633-0.935).Conclusions Anemia is a common complication in patients with CD among Chinese population.Activity of the underlying disease,older age at diagnosis,penetrating or structuring disease behavior and low BMI are the risk factors.%目的 调查中国人群克罗恩病(CD)患者初次诊断时的贫血发生率及特征,探讨引起贫血的可能原因及危险因素.方法 纳入2003年1月至2012年5月于中山大学附属第一医院住院及门诊就诊的CD患者441例.分析确诊为CD患者首次就诊时贫血的发生率、严重程度及类型,并对其中资料齐全的122例患者进行多因素logistic回归分析,以探讨CD患者贫血发

  5. Orofacial manifestations of hematological disorders: Anemia and hemostatic disorders

    Directory of Open Access Journals (Sweden)

    Titilope A Adeyemo

    2011-01-01

    Full Text Available The aim of this paper is to review the literature and identify orofacial manifestations of hematological diseases, with particular reference to anemias and disorders of hemostasis. A computerized literature search using MEDLINE was conducted for published articles on orofacial manifestations of hematological diseases, with emphasis on anemia. Mesh phrases used in the search were: oral diseases AND anaemia; orofacial diseases AND anaemia; orofacial lesions AND anaemia; orofacial manifestations AND disorders of haemostasis. The Boolean operator "AND" was used to combine and narrow the searches. Anemic disorders associated with orofacial signs and symptoms include iron deficiency anemia, Plummer-Vinson syndrome, megaloblastic anemia, sickle cell anemia, thalassaemia and aplastic anemia. The manifestations include conjunctiva and facial pallor, atrophic glossitis, angular stomatitis, dysphagia, magenta tongue, midfacial overgrowth, osteoclerosis, osteomyelitis and paraesthesia/anesthesia of the mental nerve. Orofacial petechiae, conjunctivae hemorrhage, nose-bleeding, spontaneous and post-traumatic gingival hemorrhage and prolonged post-extraction bleeding are common orofacial manifestations of inherited hemostatic disorders such as von Willebrand′s disease and hemophilia. A wide array of anemic and hemostatic disorders encountered in internal medicine has manifestations in the oral cavity and the facial region. Most of these manifestations are non-specific, but should alert the hematologist and the dental surgeon to the possibilities of a concurrent disease of hemopoiesis or hemostasis or a latent one that may subsequently manifest itself.

  6. Reticulocyte parameters in hemoglobinopathies and iron deficiency anemia

    Directory of Open Access Journals (Sweden)

    Cortellazzi Laura C.

    2003-01-01

    Full Text Available Flow cytometric reticulocyte analysis allows the evaluation of reticulocyte maturity. New reticulocyte parameters have been used in the diagnosis and management of anemias, in the bone marrow transplant setting and in the monitoring of iron replacement or erythropoiet in therapy. Reticulocyte numbers and maturation levels have been studied in different hemoglobinopathies and the results have been correlated with the degree of ineffective erythropoiesis. In order to verify differences in reticulocyte parameters in various types of anemias and to test the absolute number of immature reticulocytes as a possible discriminating factor among various types of anemias, reticulocyte counts were performed on 219 samples from patients with sickle cell anemia (SS (n= 62, hemoglobin S trait (n=9, Sbeta thalassemia (n=7, hemoglobin SC disease (n=11, beta thalassemia trait (n=33 and iron deficiency anemia (n= 47, and non-anemic individuals (n= 50. Mean fluorescence index (MFI was defined as representative of the degree of reticulocyte immaturity and it was evaluated as a percentage and in absolute values. Reticulocyte counts and MFI values were significantly higher in SS, Sbeta thalassemic and SC groups when compared to controls, but not different among the three anemia groups. Patients with hemoglobin S trait, iron deficiency anemia and beta thalassemia trait showed reticulocyte parameters similar to the non-anemic group. There was no difference between the b thalassemic trait and iron deficiency anemia in relation to any parameters. MFI in absolute numbers were significantly higher in anemias that develop with the hemolytic process, although this was not evident in MFI percentage values. Our results showed that the erythoid expansion in sickle cell diseases (SS, SC and Sb thalassemia leads to an enhanced immature reticulocyte release from bone marrow and that the phenomena is more evident by the MFI counting in absolute figures than in percentages. We

  7. A case of asymptomatic pancytopenia with clinical features of hemolysis as a presentation of pernicious anemia

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    Venkateswara K. Kollipara

    2016-09-01

    Full Text Available Pernicious anemia is an autoimmune disease with a variety of clinical presentations. We describe a case of pernicious anemia presenting with pancytopenia with hemolytic features. Further workup revealed very low vitamin B12 levels and elevated methylmalonic acid. It is important for a general internist to identify pernicious anemia as one of the cause of pancytopenia and hemolytic anemia to avoid extensive workup. Pernicious anemia can present strictly with hematological abnormalities without neurological problems or vice versa as in our case.

  8. CLINICAL FEATURES OF REFRACTORY FORMS OF ANEMIA IN CHILDREN WITH CHRONIC HEPATITIS В

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    F. I. Inoyаtova

    2013-01-01

    Full Text Available Examination of 125 children with chronic hepatitis В and concomitant anemia has determined the frequency of refractory forms of anemia (52,5%. The disease progressed more severely on the background of anemia, which was indicated by the prevalence of CHВ forms with severe activity (71,4%. The pathognomonic symptoms of anemic processes were revealed. Two pathogenetic variants of the anemia genesis in children with CHВ are being considered: the first is defined by veritable iron deficiency with ferrokinetic markers of iron-deficiency anemia; the second — by relocationable iron deficit that is typical for hemosiderosis and refractoriness development.

  9. An Etiologic Profile of Anemia in 405 Geriatric Patients

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    Tabea Geisel

    2014-01-01

    Full Text Available Background. Anemia is a common condition in the elderly and a significant risk factor for increased morbidity and mortality, reducing not only functional capacity and mobility but also quality of life. Currently, few data are available regarding anemia in hospitalized geriatric patients. Our retrospective study investigated epidemiology and causes of anemia in 405 hospitalized geriatric patients. Methods. Data analysis was performed using laboratory parameters determined during routine hospital admission procedures (hemoglobin, ferritin, transferrin saturation, C-reactive protein, vitamin B12, folic acid, and creatinine in addition to medical history and demographics. Results. Anemia affected approximately two-thirds of subjects. Of 386 patients with recorded hemoglobin values, 66.3% were anemic according to WHO criteria, mostly (85.1% in a mild form. Anemia was primarily due to iron deficiency (65%, frequently due to underlying chronic infection (62.1%, or of mixed etiology involving a combination of chronic disease and iron deficiency, with absolute iron deficiency playing a comparatively minor role. Conclusion. Greater awareness of anemia in the elderly is warranted due to its high prevalence and negative effect on outcomes, hospitalization duration, and mortality. Geriatric patients should be routinely screened for anemia and etiological causes of anemia individually assessed to allow timely initiation of appropriate therapy.

  10. Factors Associated with Anemia in the Institutionalized Elderly

    Science.gov (United States)

    da Silva, Emanuelle Cruz; Roriz, Anna Karla Carneiro; Eickemberg, Michaela; Mello, Adriana Lima; Côrtes, Elvira Barbosa Quadros; Feitosa, Caroline Alves; Medeiros, Jairza Maria Barreto; Ramos, Lílian Barbosa

    2016-01-01

    As a common problem in long-term care facilities (LTCFs), anemia affects 25–63% of the elderly. The aim of the present study was to describe the prevalence and characteristics of anemia and its associated factors in the institutionalized elderly. The cross-sectional study was carried out with three hundred thirteen individuals aged ≥ 60 years, of both genders, living in long-term care facilities for the elderly in Salvador, Bahia, Brazil. Poisson regression (PR) with robust variance estimates was used to assess the factors related to anemia. The prevalence of anemia was 38%. Mild anemia was predominant in both genders (male: 26.8%; female: 21.1%), as normocytic and normochromic anemia, with no anisocytosis (69.75%). Anemia was associated with thinness (PR: 1.68; 95% CI: 1.04–2.72) and with moderate (PR: 1.98; 95% CI: 1.07–3.63) and total (PR: 2.61; 95% CI: 1.34–5.07) dependence in the final model. Severe dependence exhibited borderline significance (PR: 1.94; 95% CI: 1.00–3.77). The prevalence of anemia was high in the institutionalized elderly in both genders, with characteristics suggesting chronic diseases as the causal factor, and the frequency of occurrence was higher in thinness elderly with moderate to total dependence. PMID:27607057

  11. Treatment of iron deficiency anemia with Ferro-Folgamma.

    Science.gov (United States)

    Ghinea, Mihaela Maria

    2004-01-01

    Iron deficiency anemia is a hypochromic anemia in which hemoglobin poor synthesis is due to a decrease in the amount of iron in the body. The decrease of iron quantity has many causes: insufficient intake of aliments rich in iron (meat, viscera, green vegetables), increased necessities during growth period, pregnancy, erythrocytes hyperregeneration, high-performance sportsmen, increased loss by digestive way, genito-urinary way, respiratory, hemorrhagic syndromes. Clinically, symptoms and signs specific to all types of anemia and those specific to lack of iron occur besides the symptoms and signs of the underlying disease: atrophic glositis, angular stomatitis, sideropenic dysphagia, pica, skin and nails changes. Laboratory investigations useful for diagnosis are: microcytic, hypochromic anemia, decreased serum iron level, total capacity of iron binding increased, medullar iron store absent, good response to iron therapy. Ferro-Folgamma is one of the most indicated medicines in iron deficiency anemia. Due to its components this medicine has many indications: insufficient alimentary intake concerning iron, folic acid, B12 vitamin, vegetarian alimentation, increased needs during growth period, iron deficiency anaemia secondary to chronic hemorrhages, malnutrition, anemias associated with chronic alcohol intake, preventive treatment of iron deficiency anemia and megaloblastic anemia during pregnancy and lactation.

  12. Could Anemia Cause Hearing Loss?

    Science.gov (United States)

    ... https://medlineplus.gov/news/fullstory_162793.html Could Anemia Cause Hearing Loss? Iron deficiency might keep ear ... Hearing loss may be linked to iron deficiency anemia -- a combination of low levels of iron and ...

  13. Ⅲ~Ⅴ期慢性肾病患者贫血的危险因素分析%Analysis of risk factors for anemia in patients with phase Ⅲ to Ⅴ chronic kidney disease

    Institute of Scientific and Technical Information of China (English)

    胡显芳

    2014-01-01

    Objective To investigate the prevalence and risk factors of anemia in the patients with phaseⅢtoⅤchronic kidney disease (CKD). Methods 218 patients diagnosed as CKD with glomerular filtration rate<60ml/min were collected in our hospital from February 2010 to February 2013. The association between clinical data and anemia occurrence was analysed. Results The prevalences of anemia in patients with phase Ⅲ~Ⅴ CKD were 49.2%, 82.9%and 95.6%, respectively. The prevalence of anemia in dialysis patients and non-dialysis patients were 95.9%and 66.9%(P<0.05). Univariate analysis indicated that age, CKD phase, dialysis, albumin and blood calcium levels, body mass index, urine osmotic concentration, N-acetyl-β-D-glucosaminidase (NAG) and serum erythropoie-tin (EPO) levels were related to the occurrence of anemia (P<0.05). Multivariate logistic regression analysis indicated that only CKD phase, albumin and calcium levels were significantly related with anemia (P<0.05). Conclusions Ad-vanced CKD phase, low albumin and calcium levels were risk factors of anemia in patients with phaseⅢ~ⅤCKD.%目的:调查Ⅲ~Ⅴ期慢性肾病(CKD)患者贫血的发生率及相关危险因素。方法随机选择我院2010年2月至2013年2月诊断为慢性肾脏病并肾小球滤过率低于60 ml/min患者218例,分析患者临床资料及其与贫血发生的相关性。结果Ⅲ~Ⅴ期慢性肾病患者中贫血发生率分别为49.2%、82.9%和95.6%。透析患者的贫血发生率(95.9%)较非透析患者(66.9%)高,差异有统计学意义(P<0.05)。单因素分析显示年龄、CKD分期、是否透析、白蛋白及血钙水平、体重指数、尿渗透浓度、N-乙酰-β-D-氨基葡萄糖苷酶(NAG)、血清EPO水平与贫血的发生率有关(P<0.05);多因素Logistic回归分析显示仅CKD分期、白蛋白及血钙水平与贫血的发生显著相关(P<0.05)。结论 CKD分期晚、白蛋白及血钙水平低是Ⅲ~Ⅴ期慢性肾病患者发生贫血的相关危险因素。

  14. Inborn anemias in mice: (Annual report, 1980-1981)

    Energy Technology Data Exchange (ETDEWEB)

    Bernstein, S.E.

    1981-07-02

    The basic purpose of this study is the delineation and exploitation of inborn anemias of the laboratory mouse, carried out by utilization of genetically homogeneous stocks segregating only for anemia-producing genes; by physiological and histological descriptions of each condition at all stages in the life history; by determination of tissue sites of primary gene action through tissue culture studies, tissue transplantation and parabiosis experiments; by analysis of reactions of normal and anemic mice to a variety of stressful stimuli, including x-irradiation, hypoxia, and toxic chemicals, and by biochemical comparisons between tissues, especially erythrocytes and hemopoietic cells of normal vs each type of anemic mouse. At present 16 single-locus anemias are known in the mouse, plus one with multifactorial inheritance (the autoimmune hemolytic anemia of NZB inbred mice). Of these, six are maintained only by the Jackson Laboratory, and two others have but one additional source. Effects of anemia-producing mutant alleles of these loci (an; f; ja; ha; Hba/sup th/; mk; nb; Sl and Sl/sup d/; sla; sph; and W, W/sup v/, W/sup J/ and 10 other putative W-alleles) are currently under investigation at the Jackson Laboratory. 15 refs.

  15. Biomarkers for the differentiation of anemia and their clinical usefulness

    Directory of Open Access Journals (Sweden)

    Northrop-Clewes CA

    2013-03-01

    Full Text Available Christine A Northrop-Clewes,1 David I Thurnham21Nutrition Consultant, Cambridge, UK; 2Northern Ireland Centre for Food and Health, School of Biomedical Sciences, University of Ulster, Coleraine, UKAbstract: The World Health Organization defines anemia as the point at which the amount of hemoglobin in the circulation falls below World Health Organization cutoffs for specific age and sex groups. Anemia is a worldwide problem of complex etiology and is associated with many factors. The purpose of this review was to describe the biomarkers used to identify the nature of anemia in patients and in the community. The important biomarkers are the automated red cell counts, tests for nutritional deficiencies, hemoglobinopathies, and inflammation. Diseases are important potential initiators of anemia, but biomarkers of specific diseases are not included in this review, only the underlying feature common to all disease – namely, inflammation.Keywords: iron deficiency, biological markers, blood cell count, inflammation, avitaminosis, hemoglobinopathies

  16. [Autoimmune hemolytic anemia in children].

    Science.gov (United States)

    Becheur, M; Bouslama, B; Slama, H; Toumi, N E H

    2015-01-01

    Autoimmune hemolytic anemia is a rare condition in children which differs from the adult form. It is defined by immune-mediated destruction of red blood cells caused by autoantibodies. Characteristics of the autoantibodies are responsible for the various clinical entities. Classifications of autoimmune hemolytic anemia include warm autoimmune hemolytic anemia, cold autoimmune hemolytic anemia, and paroxysmal cold hemoglobinuria. For each classification, this review discusses the epidemiology, etiology, clinical presentation, laboratory evaluation, and treatment options.

  17. DIAGNOSIS LABORATORIK ANEMIA DEFISIENSI BESI

    OpenAIRE

    Dina Sophia Margina; Sianny Herawati; I W P Sutirta Yasa

    2014-01-01

    Iron deficiency anemia is a decreament of iron level in the body. Iron deficiency anemiais oftenly seen, especially in the tropical countries or the third world country thatassociated with social economic rate. Iron deficiency anemia happens in more than onethird world’s population. Iron deficiency anemia can be caused by chronic hemorrhage,low intake of iron, absorption disturbance, and increasement of demand. To diagnose irondeficiency anemia, laboratoric examination is needed. The treatmen...

  18. Chronic IFN-γ production in mice induces anemia by reducing erythrocyte life span and inhibiting erythropoiesis through an IRF-1/PU.1 axis

    NARCIS (Netherlands)

    S.F. Libregts; L. Gutiérrez; A.M. de Bruin; F.M. van Wensveen; P. Papadopoulos; W. van IJcken; Z. Ozgür; S. Philipsen; M.A. Nolte

    2011-01-01

    Anemia of chronic disease is a complication accompanying many inflammatory diseases. The proinflammatory cytokine IFN-γ has been implicated in this form of anemia, but the underlying mechanism remains unclear. Here we describe a novel mouse model for anemia of chronic disease, in which enhanced CD27

  19. Chronic IFN-γ production in mice induces anemia by reducing erythrocyte life span and inhibiting erythropoiesis through an IRF-1/PU.1 axis

    NARCIS (Netherlands)

    S.F. Libregts (Sten); L. Gutiérrez (Laura); A.M. de Bruin (Alexander); F.M. Wensveen (Felix); P. Papadopoulos (Petros); W.F.J. van IJcken (Wilfred); Z. Özgür (Zeliha); J.N.J. Philipsen (Sjaak); M.A. Nolte (Martijn)

    2011-01-01

    textabstractAnemia of chronic disease is a complication accompanying many inflammatory diseases. The proinflammatory cytokine IFN-γ has been implicated in this form of anemia, but the underlying mechanism remains unclear. Here we describe a novel mouse model for anemia of chronic disease, in which e

  20. Hepcidin与慢性病贫血分子发病机制%Relationship between hepcidin and pathogenesis of chronic anemia diseases

    Institute of Scientific and Technical Information of China (English)

    高举

    2004-01-01

    慢性病贫血(anemia of chronic disease,ACD)现多称为炎症性贫血(anemia of inflammation),指在慢性感染、慢性炎症和恶性肿瘤患者中出现的一种贫血,是临床上常见贫血类型,发生率仅次于缺铁性贫血。血清铁和总铁结合率降低,血清铁蛋白水平正常或增高,血清转铁蛋白受体水平不增高和单核一巨噬细胞系统(monocyte.macrophage system,

  1. Anemia in People with Cancer

    Science.gov (United States)

    ... Managing Cancer-related Side Effects Low Blood Counts Anemia in People With Cancer What is anemia? When you don’t have enough healthy red ... the symptoms that bother people most. What causes anemia? There are many different reasons a person with ...

  2. How Is Fanconi Anemia Diagnosed?

    Science.gov (United States)

    ... from the NHLBI on Twitter. How Is Fanconi Anemia Diagnosed? People who have Fanconi anemia (FA) are born with the disorder. They may ... questions about: Any personal or family history of anemia Any surgeries you’ve had related to the ...

  3. How Is Aplastic Anemia Diagnosed?

    Science.gov (United States)

    ... from the NHLBI on Twitter. How Is Aplastic Anemia Diagnosed? Your doctor will diagnose aplastic anemia based on your medical and family histories, a ... your primary care doctor thinks you have aplastic anemia, he or she may refer you to a ...

  4. Severe Anemia in Malawian Children

    NARCIS (Netherlands)

    Calis, J.C.J.; Kamija, S.P.; Faragher, E.B.; Brabin, B.J.; Bates, I.; Cuevas, L.E.; Haan, de R.J.; Phiri, A.I.; Malange, P.; Khoka, M.; Hulshof, P.J.M.; Lieshout, L.; Beld, M.G.H.M.; Teo, Y.Y.; Rockett, K.A.; Richardson, A.; Kwiatkowski, D.P.; Molyneux, M.E.; Hensbroek, van M.B.

    2008-01-01

    Background Severe anemia is a major cause of sickness and death in African children, yet the causes of anemia in this population have been inadequately studied. Methods We conducted a case¿control study of 381 preschool children with severe anemia (hemoglobin concentration,

  5. Anemia in Clinical Practice-Definition and Classification: Does Hemoglobin Change With Aging?

    Science.gov (United States)

    Cappellini, M Domenica; Motta, Irene

    2015-10-01

    Anemia is a global public health problem affecting both developing and developed countries at all ages. According to the World Health Organization (WHO), anemia is defined as hemoglobin (Hb) levels Anemia is often multifactorial and is not an independent phenomenon. For the classification and diagnosis the hematologic parameters, the underlying pathological mechanism and patient history should be taken into account. The aging of population, especially in Western countries, causes an increase of anemia in elderly people. In this population, anemia, recently defined by levels of Hb anemia in this population is important because it contributes to morbidity and mortality. In one third of the patients, anemia is due to nutritional deficiency, including iron, folate, or vitamin B12 deficiency; moreover, anemia of chronic disease accounts for about another third of the cases. However, in one third of patients anemia cannot be explained by an underlying disease or by a specific pathological process, and for this reason it is defined "unexplained anemia". Unexplained anemia might be due to the progressive resistance of bone marrow erythroid progenitors to erythropoietin, and a chronic subclinical pro-inflammatory state.

  6. [Autoimmune hemolytic anemia: diagnosis and management].

    Science.gov (United States)

    Philippe, Pierre

    2007-12-01

    Autoimmune hemolytic anemia (AIHA) is diagnosed in the presence of anemia, usually macrocytic and of variable intensity, reticulocytosis, and a positive direct and/or indirect antiglobulin test, after ruling out other types of hemolytic anemia. A positive direct antiglobulin test alone is not sufficient to diagnose AIHA and may be positive in many patients without anemia or negative in some patients with AIHA. AIHA may be classified into two major categories according to the optimal temperature of antibody activity: warm-reacting autoantibodies (usually IgG) optimal around 37 degrees C and cold-reacting autoantibodies, optimal at 4 degrees C (usually IgM). This classification guides the selection of tests and treatment. AIHA is widely reported to be associated with a variety of other diseases, although these associations are often fortuitous. A minimal set of useful investigations is appropriate since AIHA may be secondary to viral infections, lymphoid malignancies, or autoimmune disorders such as lupus. Transfusion should remain rare in AHAI, but close contact with the transfusion service is necessary if it is to succeed. As for many autoimmune and/or systemic diseases, numerous types of treatment have been proposed but have not been validated in controlled multicenter studies. These are necessary to improve the management of these rare disorders.

  7. Tubercular lymphadenitis and abdominal tuberculosis with autoimmune hemolytic anemia and severe intravascular hemolysis

    Directory of Open Access Journals (Sweden)

    Ashutosh M Somalwar

    2013-01-01

    Full Text Available Tuberculosis, a common disease in the developing world and a resurging problem in the developed world, is associated with numerous hematological manifestations. The most common manifestation is normochromic normocytic anemia of chronic disease. Hemolytic anemia is rare, and there are only a few previously reported cases. We report a case of autoimmune hemolytic anemia with severe intravascular hemolysis in a case of abdominal tuberculosis. To our knowledge, this is one of the few cases reported in the literature.

  8. Correlation between vitamin D deficiency and anemia in patients with early-stage chronic kidney disease%早期慢性肾脏病患者维生素D缺乏和贫血的相关性研究

    Institute of Scientific and Technical Information of China (English)

    孙小鹉; 于为民

    2013-01-01

    Objective To determine the correlation between vitamin D deficiency and anemia in patients with early-stage chronic kidney disease (CKD). Methods In this cross-sectional study, the radioimmunoassay was employed to assess the levels of 25-hydroxyvitamin D (25-D), 1,25-dihydroxyvitamin D (1,25-D) and hemoglobin in 195 patients with early-stage CKD who were admitted to Shanxi Grand Hospital by using an automatic biochemical analyzer, for subsequent comparison on the mean corpuscular hemoglobin concentration (MCHC) and incidence rate of anemia in the groups with different levels of vitamin D. Results Mean hemoglobin concentration correlated with 25-D (r=0.2146, P<0.01) and 1,25-D (r=0.2479, P<0.01) in a linear fashion. When compared with normal controls, a markedly higher incidence of anemia was noted in patients with 25-D and 1,25-D deficiency. Subgroup analysis suggested that patients with severe anemia yielded a profoundly lower level of anemia and hemoglobin. Conclusion The evidence that 25-D and 1,25-D deficiency are independently associated with decreased hemoglobin levels and incidence of anemia in chronic kidney disease can definitively shed light on the clinical treatment.%目的 探讨早期慢性肾脏病患者中维生素D缺乏与贫血间的关系.方法 采用横断面调查研究的方法.分别用放射免疫检测法及全自动生化分析仪检测我院195例早期慢性肾脏病患者血清25羟基维生素D和1,25二羟基维生素D及血红蛋白水平,并比较不同维生素D水平组间的平均血红蛋白浓度及贫血患病率.结果 受试对象平均血红蛋白浓度与25羟基维生素D(r=0.2146,P<0.01)及1,25二羟基维生素D(r=0.2479,P<0.01)浓度呈正相关.25羟基维生素D和1,25二羟基维生素D缺乏组与正常组相比,贫血的患病率增高.分层研究发现重度维生素D缺乏组贫血程度及血红蛋白水平降低更为明显.结论 维生素D轴(1,25二羟基维生素D及25羟基维生素D)缺乏与低

  9. Canine autoimmune hemolytic anemia: management challenges

    Directory of Open Access Journals (Sweden)

    Swann JW

    2016-07-01

    Full Text Available James W Swann,1 Barbara J Skelly2 1Queen Mother Hospital for Animals, The Royal Veterinary College, Hatfield, Hertfordshire, 2Department of Veterinary Medicine, University of Cambridge, Cambridge, UK Abstract: Immune-mediated hemolytic anemia is one of the most common manifestations of canine immune-mediated disease, yet treatment regimens remain nonstandardized and, in some cases, controversial. The main reason for this, as for most diseases in veterinary medicine, is the lack of large-scale placebo-controlled trials so that the efficacy of one treatment over another can be established. Most of the evidence used for treatment comes from retrospective studies and from personal preference and experience, and because of this, treatment regimens tend to vary among institutions and individual clinicians. Management of immune-mediated hemolytic anemia includes immunosuppression, thromboprophylaxis, and supportive care measures to help prevent and treat concurrent conditions. Keywords: IMHA, canine immune-mediated disease, management regimens

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

    Directory of Open Access Journals (Sweden)

    Rita de Cassia Mousinho-Ribeiro

    2008-04-01

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

  11. Pathogenia da anemia na Ancylostomose: II - causas determinantes dos phenomenos regenerativos e degenerativos nessa anemia e contribuições para elucidar o seu mechanismo intimo Pathogenesis of Anaemia in Hookworm Disease: II - causes wich determine the regenerative and degenerative phenomena in this anaemia and contributions towards the elucidation of their inmost mechanism

    Directory of Open Access Journals (Sweden)

    W. O. Cruz

    1934-12-01

    hematokrit and, in the majority of cases, determination of the rate of reticulocytes, verifications of the morphologic aspect of blood on slides, the haematologic part consisted in investigations on globular resistence, rate of proteins in serum and, in some cases, count of platelets, determination of viscosity, etc. In these investigations we employed the usual methods, with the exception as for the determination of globular resistance, for which we described in detail a process though little used. During the whole course of the observations, the biologic activity of the helminthic parasites was controlled by numerous examinations of the faeces, consisting in the investigation of eliminated eggs and of chemical reactions detecting the presence of blood. Uranalyses were made periodically, and other examinations were practised whenever a complication or any unexpected fact came upon. In severe cases of the disease we observed an anemia of constant features. It is a hypochromic, microcytic and slightly regenerative anemia. We verified that the degeneration of the hematic indices, i. e. the degree of hypochromia and microcytosis in these extreme cases, does not appear in a variable but in a particularly constant manner; furthermore, we verified that these indices thus degenerated (Vol. Ind. 53 uc., Hb. Ind. 13'yy, Sat. Ind. 23%, according to observation by other authors, are also met with in various hypochromic anemiae of man or other mammals. Normoblasts, red cells with nuclear remainders and polychromatic red cells are extremely rare or even absent in the slides examined. This aspect is constant in severe cases; however, the number of these red cells characterized above is variable in the volume unit. The average of this reading is in numerous cases 2.50 M. which determines the rate of Hb, equal to 23%. After analysing certain observations which describe hematologic aspects different from those here described, we concluded that in such anomalous cases there are superpositions

  12. [Severe autoimmune hemolytic anemia after ABO match living donor liver transplantation].

    Science.gov (United States)

    Kohata, Katsura; Fujiwarw, Tohru; Yamamoto, Joji; Yamada, Minami; Ishizawa, Kenichi; Satoh, Kazushige; Sekiguchi, Satoshi; Kameoka, Junichi; Satomi, Susumu; Harigae, Hideo

    2010-01-01

    A case of severe autoimmune hemolytic anemia after ABO matched living donor liver transplantation. We present here a case of severe autoimmune hemolytic anemia after ABO matched living donor liver transplantation. The patient is 56 y.o male. He received living donor liver transplantation from his ABO matched son in May 2007. In July, he was suffered from a progressive anemia, and diagnosed as autoimmune hemolytic anemia by the laboratory examinations. Intensive treatment including predonisolone, azathiopurine, rituximab, plasma exchange, was given, however, the disease was resistant to the treatment. By the administration of cyclophosphamide combined with rituximab, remission was finally achieved. To date, immune mediated hemolytic anemia after ABO matched living donor liver transplantation has not been reported, although several cases of ABO mismatched living donor liver transplantation have been reported. His severe but transient clinical course of anemia suggests that the transient emergence of donor lymphocytes may be responsible for onset of hemolytic anemia.

  13. Frequency of anemia in chronic psychiatry patients

    Directory of Open Access Journals (Sweden)

    Korkmaz S

    2015-10-01

    . Thus, the study concluded that it would be beneficial to consider the physical symptoms and to conduct the required examinations to determine anemia among this patient group. Keywords: anemia, hemoglobin, physical disease

  14. Diagnosis and treatment of unexplained anemia with iron deficiency without overt bleeding

    DEFF Research Database (Denmark)

    Dahlerup, Jens Frederik; Eivindson, Martin; Jacobsen, Bent Ascanius

    2015-01-01

    A general overview is given of the causes of anemia with iron deficiency as well as the pathogenesis of anemia and the para-clinical diagnosis of anemia. Anemia with iron deficiency but without overt GI bleeding is associated with a risk of malignant disease of the gastrointestinal tract; upper...... gastrointestinal cancer is 1/7 as common as colon cancer. Benign gastrointestinal causes of anemia are iron malabsorption (atrophic gastritis, celiac disease, chronic inflammation, and bariatric surgery) and chronic blood loss due to gastrointestinal ulcerations. The following diagnostic strategy is recommended...... for unexplained anemia with iron deficiency: conduct serological celiac disease screening with transglutaminase antibody (IgA type) and IgA testing and perform bidirectional endoscopy (gastroscopy and colonoscopy). Bidirectional endoscopy is not required in premenopausal women

  15. 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.…

  16. Anemia and School Participation

    Science.gov (United States)

    Bobonis, Gustavo J.; Miguel, Edward; Puri-Sharma, Charu

    2006-01-01

    Anemia is among the most widespread health problems for children in developing countries. This paper evaluates the impact of a randomized health intervention delivering iron supplementation and deworming drugs to Indian preschool children. At baseline, 69 percent were anemic and 30 percent had intestinal worm infections. Weight increased among…

  17. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... a lower than normal number of red blood cells. Red blood cells carry oxygen and remove carbon dioxide (a waste ... Anemia also can occur if your red blood cells don't contain enough hemoglobin (HEE-muh-glow- ...

  18. Twin anemia polycythemia sequence

    NARCIS (Netherlands)

    Slaghekke, Femke

    2014-01-01

    In this thesis we describe that Twin Anemia Polycythemia Sequence (TAPS) is a form of chronic feto-fetal transfusion in monochorionic (identical) twins based on a small amount of blood transfusion through very small anastomoses. For the antenatal diagnosis of TAPS, Middle Cerebral Artery – Peak Syst

  19. Anemia (For Parents)

    Science.gov (United States)

    ... rich foods to a child's diet or reducing milk intake. If your teenage daughter is anemic and has heavy or irregular menstrual periods, the doctor may prescribe hormonal treatment to help regulate the bleeding. Folic acid and vitamin B12 supplements may be recommended for anemia due to ...

  20. Autoimmune Hemolytic Anemia.

    Science.gov (United States)

    Liebman, Howard A; Weitz, Ilene C

    2017-03-01

    Autoimmune hemolytic anemia is an acquired autoimmune disorder resulting in the production of antibodies directed against red blood cell antigens causing shortened erythrocyte survival. The disorders can present as a primary disorder (idiopathic) or secondary to other autoimmune disorders, malignancies, or infections. Treatment involves immune modulation with corticosteroids and other agents.

  1. Information and Resources for Caregivers: Sickle Cell Disease

    Science.gov (United States)

    ... medical information on the disease. Español/Spanish Information Anemia Falciforme (March of Dimes Birth Defects Foundation) Datos Sobre la Anemia Falciforme (Facts About Sickle Cell Anemia) AIDS ALS Cancer ...

  2. The effect of Vitamin D administration on treatment of anemia in end-stage renal disease patients with Vitamin D deficiency on hemodialysis: A placebo-controlled, double-blind clinical trial

    Directory of Open Access Journals (Sweden)

    Afsoon Emami Naini

    2015-01-01

    Full Text Available Background: Chronic kidney disease is a progressive and irreversible loss of renal function. Anemia is one of the main complications of end-stage renal disease (ESRD which is linked closely with other complications of the disease. The primary therapy for anemia in these patients is erythropoietin (EPO. The goal of this study was to find the effect of Vitamin D administration in addition to the appropriate dose of EPO in ESRD patients with Vitamin D deficiency. Materials and Methods: This was a double-blind clinical trial on 64 ESRD patients undergoing hemodialysis in Amin and Noor Hospitals of Isfahan, Iran. The patients were divided into two groups of control and intervention. The intervention group was given Vitamin D supplements and the control group received placebo. The required dose of EPO to reach the target hemoglobin (Hb was measured and statistically analyzed. Results: A total number of 32 females and 32 males were included in this study. All the patients in the treatment group were aged between 18 and 76 and the patients in the control group were aged between 21 and 76 years old. There was a significant statistical relationship between Vitamin D administration and the required dose of EPO in both groups (P = 0.013. However, there was no correlation between the concentration of Hb and serum Vitamin D levels. Conclusion: Based on the main finding of this study, the relationship between Vitamin D administration and required dose of EPO seems that the predicted dose of Vitamin D prescribing strategy in Kidney Disease Outcomes Quality Initiative guidelines is not adequate to achieve normal serum Vitamin D in ESRD patients.

  3. 慢性肾脏病患者贫血与铁代谢的相关性研究%Correlation between anemia and iron metabolism in patients with chronic kidney disease

    Institute of Scientific and Technical Information of China (English)

    张静; 杨俊伟

    2016-01-01

    目的:探讨慢性肾脏病(CKD)不同分期患者贫血和铁代谢紊乱程度及二者的相关性。方法选取2012年1月至2015年10月该院肾内科收治的240例初诊为CKD患者作为研究对象,根据肾小球滤过率估计值(eGFR)分为CKD 1~5期,收集患者血红蛋白(Hb)、红细胞(RBC)、血细胞比容(Hct)、血清铁(SI)、血清总铁结合力、转铁蛋白饱和度(TSAT)、血清铁蛋白等数据,并分析五组患者贫血检测指标与铁代谢检测指标的差异及其相关性。结果 CKD 1~5期患者均存在不同程度贫血,CKD 3~5期患者Hb、RBC、Hct与CKD 1、2期比较,差异均有统计学意义(P<0.05)。CKD 3期患者SI、TSAT较CKD 1期降低,CKD 4、5期患者SI、TSAT均较CKD 1、2期降低,差异均有统计学意义(P<0.05),CKD 3~5期患者SI、TSAT与Hb及Hct呈正相关(P<0.05)。结论 CKD 1~5期患者均存在不同程度贫血,CKD患者贫血与铁代谢密切相关,eGFR越低,贫血和铁代谢紊乱程度越重。%Objective To explore the degree of anemia and iron metabolism disorder in the patients with chronic kidney disease(CKD)and their relationship. Methods Totally 240 patients with initially diagnosed CKD in the nephrology department of our hospital from January 2012 to October 2015 were selected and divided into the CKD stage 1-5 according to the estimated value of glomerular filtration rate(eGFR). The data of hemoglobin(Hb),red blood cell count(RBC),hematokrit(Hct),serum iron (SI),total iron binding capacity(TIBC),serum transferrin saturation(TSAT) and serum ferritin(SF) were collected and the cor-relation between the anemia detection indicators with iron metabolic detection indicators was analyzed. Results The different degree of anemia existed among the CKD 5 stages. The Hb,RBC,Hct levels had statistical differences between the CKD stage 3-5 with the CKD stage 1-2(P<0.05). The SI and TSAT levels in the CKD stage 3 were

  4. Clinical Effect of Recombinant Human Erythropoietin for the Treatment of Anemia of Chronic Disease%重组人促红细胞生成素治疗慢性病性贫血的临床疗效观察

    Institute of Scientific and Technical Information of China (English)

    黄闯

    2015-01-01

    目的 探讨重组人促红细胞生成素治疗慢性病性贫血的临床疗效. 方法 选取在我院接受治疗的慢性病性贫血患者共120例, 分为观察组和对照组各60例. 所有患者原发性疾病的治疗方法不变, 给予对照组常规治疗, 给予观察组重组人促红细胞生成素治疗, 观察比较两组的治疗效果. 结果 观察组总有效率为95.0%, 明显高于对照组的70.0%, 差异具有统计学意义(P<0.05); 观察组血红蛋白、 平均血红蛋白浓度、 平均血红蛋白量、 平均红细胞体积以及红细胞分布宽度均优于对照组, 差异具有统计学意义 (P<0.05). 结论 采用重组人促红细胞生成素治疗慢性病性贫血疾病具有良好的临床效果, 值得推广.%Objective To explore the clinical effect of recombinant human erythropoietin for the treatment of anemia of chronic disease. Methods 120 patients with anemia of chronic disease admitted to our hospital were selected and divided into two groups equally. On the basis of therapy for primary disease, the control group received routine treatment, while the observation group received recombinant human erythropoietin. The clinical effects of two groups were observed and compared. Results The total effective rate of observation group was 95.0%, significantly higher than 70.0% of control group (P <0.05). The observation group was superior to the control group in the hemoglobin, average corpuscular hemoglobin concentration, average corpuscular hemoglobin amount, average red blood cell volume and red blood cell distribution width (all P<0.05). Conclusions Recombinant human erythropoietin for the treatment of anemia of chronic disease has significant effect, which is worthy of promotion.

  5. Multidisciplinary approach to anemia

    Directory of Open Access Journals (Sweden)

    Anca Ghiațău

    2015-08-01

    Full Text Available Introduction: We present the case of a 65 years- old woman who was admitted with a severe macrocytic anemia Hb= 5.7g/dl and diffuse bone pain. Biologically she has moderate thrombocytopenia 35 000/µl, a hepatic cytolysis and cholestatic syndrome. Material and method: The patient was extensively evaluated before presentation for a mild iron - deficiency anemia for which she underwent endoscopic examination of the upper and lower gastrointestinal tract- normal. The bone marrow aspiration on admission revealed a marked hyperplasia of the erythroblastic line with ~50% basophilic erythroblasts suggesting a regenerative erythroid hyperplasia. These changes along with the marked reticulocytosis on the peripheral blood smear oriented us towards a hemolytic anemia; Folic acid, vitamin B12, autoimmune tests and hemolytic tests were all normal. We continued the investigations with a thoraco-abdominopelvic computed tomography which identified diffuse demineralization, vertebral compactation and pelvic stress fractures. The breast examination revealed a right breast nodule, but the breast ultrasonography pleaded for benignity. Lacking a clear definitive diagnosis we decided to perform a bone marrow biopsy. Results: The osteo- medullary biopsy pointed towards a medullar invasion from a lobular mammary carcinoma; In these circumstances we performed an ultrasound guided biopsy of the right mammary lump thus histologically confirming a tumoral invasion of the bone marrow with subsequent anemia. The patient started chemotherapy in the Oncology ward. Conclusion: The particularity of this case consists in the pattern of anemia, which initially seemed iron deficient and afterwards macrocytic – apparently hemolytic and was actually due to the tumoral medullar invasion and also the nonspecific ultrasonographic appearance of the breast tumor.

  6. Effects of Oral L-Carnitine Supplementation on Lipid Profile, Anemia, and Quality of Life in Chronic Renal Disease Patients under Hemodialysis: A Randomized, Double-Blinded, Placebo-Controlled Trial

    Directory of Open Access Journals (Sweden)

    Afsoon Emami Naini

    2012-01-01

    Full Text Available In patients on maintenance hemodialysis several factors reduce the body stored carnitine which could lead to dyslipidemia, anemia, and general health in these patients. We evaluated the effect of oral L-carnitine supplementation on lipid profiles, anemia, and quality of life (QOL in hemodialysis patients. In a randomized, double-blinded, placebo-controlled trial, end-stage renal disease (ESRD patients on hemodialysis received either L-carnitine 1 g/d (n=24 or placebo (27 patients for 16 weeks. At the end of the study, there was a significant decrease in triglyceride (-31.1±38.7 mg/dL, P=0.001 and a significant increase in HDL (3.7±2.8 mg/dL, P0.05. Erythropoietin dose was significantly decreased in both the carnitine (-4750±5772 mg, P=0.001 and the placebo group (-2000±4296 mg, P<0.05. No improvement was observed in QOL scores of two groups. In ESRD patients under maintenance hemodialysis, oral L-carnitine supplementation may reduce triglyceride and cholesterol and increase HDL and hemoglobin and subsequently reduce needed erythropoietin dose without effect on QOL.

  7. Renal cell carcinoma presenting as hemolytic anemia in pregnancy.

    Science.gov (United States)

    Monga, M; Benson, G S; Parisi, V M

    1995-03-01

    A patient presented at 29 weeks' gestation with severe hemolytic anemia. She was subsequently diagnosed as having renal cell carcinoma and had a radical nephrectomy at 31 weeks' gestation, which demonstrated stage I disease. This was followed by a normal vaginal delivery of a healthy infant at term and complete resolution of her anemia. This unusual presentation of renal cell carcinoma in pregnancy is discussed.

  8. Immune-mediated hemolytic anemia.

    Science.gov (United States)

    Rosse, Wendell F; Hillmen, Peter; Schreiber, Alan D

    2004-01-01

    Hemolytic anemia due to immune function is one of the major causes of acquired hemolytic anemia. In recent years, as more is known about the immune system, these entities have become better understood and their treatment improved. In this section, we will discuss three areas in which this progress has been apparent. In Section I, Dr. Peter Hillmen outlines the recent findings in the pathogenesis of paroxysmal nocturnal hemoglobinuria (PNH), relating the biochemical defect (the lack of glycosylphosphatidylinositol [GPI]-linked proteins on the cell surface) to the clinical manifestations, particularly hemolysis (and its effects) and thrombosis. He discusses the pathogenesis of the disorder in the face of marrow dysfunction insofar as it is known. His major emphasis is on innovative therapies that are designed to decrease the effectiveness of complement activation, since the lack of cellular modulation of this system is the primary cause of the pathology of the disease. He recounts his considerable experience with a humanized monoclonal antibody against C5, which has a remarkable effect in controlling the manifestations of the disease. Other means of controlling the action of complement include replacing the missing modulatory proteins on the cell surface; these studies are not as developed as the former agent. In Section II, Dr. Alan Schreiber describes the biochemistry, genetics, and function of the Fc gamma receptors and their role in the pathobiology of autoimmune hemolytic anemia and idiopathic thrombocytopenic purpura due to IgG antibodies. He outlines the complex varieties of these molecules, showing how they vary in genetic origin and in function. These variations can be related to three-dimensional topography, which is known in some detail. Liganding IgG results in the transduction of a signal through the tyrosine-based activation motif and Syk signaling. The role of these receptors in the pathogenesis of hematological diseases due to IgG antibodies is

  9. [Hereditary sideroblastic anemia: a rare diagnosis].

    Science.gov (United States)

    Brahem-Jmili, N; Salem, N; Abdelkefi, S; Champ, B Grand; Bekri, S; Sboui, H; Mahjoub, T; Yacoub, S; Kortas, M

    2004-01-01

    Hereditary sideroblastic anemia is a very rare disease recessive and X-linked that affect heme biosynthesis by deficit or decreased of delta aminolevulinic acid synthase (ALAS) activity. We report a case of a six-month-old boy, admitted in the hospital for anemic syndrome. The hemogram showed anemia (hemoglobin: 4.5 g/dL), frankly hypochronic microcytic and a regenerated (mean corpuscular hemoglobin concentration: 26 g/dL, mean cell volume: 53 fl, reticulocytes: 10 x 10(9)/L) with red cells morphologic disorders in smears (anisopoikylocytosis) without attack of the other lineages; white blood cells: 11 x 10(9)/L (neutrophils: 64% and lymphocytes: 35%); platelets: 350 x 10(9)/L. Examination of bone marrow showed an important erythroid hyperplasia (about 69%) with dyserythropoiesis. Perls stain revealed intense siderosis with 90% of ringed sideroblasts and a large number of siderocytes. Exploration of ALAS2 and ABC7 genes on the DNA of the infant was not found abnormalities. Treatment with pyridoxine corrects moderately the anemia. By the way, we proposed to remind that iron deficiency, inflammatory syndrome and thalassemia are the common microcytic anemia. However, it's mandatory to explore other causes if diagnosis is not solved.

  10. 再生障碍性贫血相关的恶性疾病及克隆改变%Malignant or clonal diseases evoluted from aplastic anemia

    Institute of Scientific and Technical Information of China (English)

    王婷; 邵宗鸿

    2011-01-01

    再生障碍性贫血(aplastic anemia,AA)是多种病因引起的造血障碍综合征,近年来生存率得到明显改善,生存时间明显延长.人们长期随访发现部分AA有向恶性疾病及克隆性疾病进展或"转变"的风险,发病机制可能包括造血干细胞自身缺陷、造血微环境影响、治疗干预等.

  11. Pulse pressure is not an independent predictor of outcome in type 2 diabetes patients with chronic kidney disease and anemia--the Trial to Reduce Cardiovascular Events with Aranesp Therapy (TREAT).

    Science.gov (United States)

    Theilade, S; Claggett, B; Hansen, T W; Skali, H; Lewis, E F; Solomon, S D; Parving, H-H; Pfeffer, M; McMurray, J J; Rossing, P

    2016-01-01

    Pulse pressure (PP) remains an elusive cardiovascular risk factor with inconsistent findings. We clarified the prognostic value in patients with type 2 diabetes, chronic kidney disease (CKD) and anemia in the Trial to Reduce cardiovascular Events with Aranesp (darbepoetin alfa) Therapy. In 4038 type 2 diabetes patients, darbepoetin alfa treatment did not affect the primary outcome. Risk related to PP at randomization was evaluated in a multivariable model including age, gender, kidney function, cardiovascular disease (CVD) and other conventional risk factors. End points were myocardial infarction (MI), stroke, end stage renal disease (ESRD) and the composite of cardiovascular death, MI or hospitalization for myocardial ischemia, heart failure or stroke (CVD composite). Median (interquartile range) age, gender, eGFR and PP was 68 (60-75) years, 57.3% women, 33 (27-42) ml min(-1) per 1.73 m2 and 60 (50-74) mm Hg. During 29.1 months (median) follow-up, the number of events for composite CVD, MI, stroke and ESRD was 1010, 253, 154 and 668. In unadjusted analyses, higher quartiles of PP were associated with higher rates per 100 years of follow-up of all end points (P⩽0.04), except stroke (P=0.52). Adjusted hazard ratios (95% confidence interval) per one quartile increase in PP were 1.06 (0.99-1.26) for MI, 0.96 (0.83-1.11) for stroke, 1.01 (0.94-1.09) for ESRD and 1.01 (0.96-1.07) for CVD composite. Results were similar in continuous analyses of PP (per 10 mm Hg). In patients with type 2 diabetes, CKD and anemia, PP did not independently predict cardiovascular events or ESRD. This may reflect confounding by aggressive antihypertensive treatment, or PP may be too rough a risk marker in these high-risk patients.

  12. Alteration in Marrow Stromal Microenvironment and Apoptosis Mechanisms Involved in Aplastic Anemia: An Animal Model to Study the Possible Disease Pathology

    Directory of Open Access Journals (Sweden)

    Sumanta Chatterjee

    2010-01-01

    Full Text Available Aplastic anemia (AA is a heterogeneous disorder of bone marrow failure syndrome. Suggested mechanisms include a primary stem cell deficiency or defect, a secondary stem cell defect due to abnormal regulation between cell death and differentiation, or a deficient microenvironment. In this study, we have tried to investigate the alterations in hematopoietic microenvironment and underlying mechanisms involved in such alterations in an animal model of drug induced AA. We presented the results of studying long term marrow culture, marrow ultra-structure, marrow adherent and hematopoietic progenitor cell colony formation, flowcytometric analysis of marrow stem and stromal progenitor populations and apoptosis mechanism involved in aplastic anemia. The AA marrow showed impairment in cellular proliferation and maturation and failed to generate a functional stromal microenvironment even after 19 days of culture. Ultra-structural analysis showed a degenerated and deformed marrow cellular association in AA. Colony forming units (CFUs were also severely reduced in AA. Significantly decreased marrow stem and stromal progenitor population with subsequently increased expression levels of both the extracellular and intracellular apoptosis inducer markers in the AA marrow cells essentially pointed towards the defective hematopoiesis; moreover, a deficient and apoptotic microenvironment and the microenvironmental components might have played the important role in the possible pathogenesis of AA.

  13. Diagnosis and treatment of unexplained anemia with iron deficiency without overt bleeding

    DEFF Research Database (Denmark)

    Dahlerup, Jens Frederik; Eivindson, Martin; Jacobsen, Bent Ascanius;

    2015-01-01

    A general overview is given of the causes of anemia with iron deficiency as well as the pathogenesis of anemia and the para-clinical diagnosis of anemia. Anemia with iron deficiency but without overt GI bleeding is associated with a risk of malignant disease of the gastrointestinal tract; upper...... for unexplained anemia with iron deficiency: conduct serological celiac disease screening with transglutaminase antibody (IgA type) and IgA testing and perform bidirectional endoscopy (gastroscopy and colonoscopy). Bidirectional endoscopy is not required in premenopausal women ... treatment of any cause of anemia with iron deficiency found on diagnostic assessment should be initiated. In addition, iron supplementation should be administered, with the goal of normalizing hemoglobin levels and replenishing iron stores. Oral treatment with a 100-200 mg daily dose of elemental iron...

  14. LABORATORY DIAGNOSIS OF INFECTIOUS SALMON ANEMIA (ISA)

    DEFF Research Database (Denmark)

    Schyth, Brian Dall; Olesen, Niels Jørgen; Østergaard, Peter

    The first outbreak of ISA on the Faroe Islands was diagnosed in March 2000. Despite intensive surveillance, control and eradication of ISA, the disease has since spread to most of the Faroe Islands affecting about half of the 23 aquaculture farms. Sampling and laboratory diagnosis of ISA is perfo...... characterisation of the virus causing infectious salmon anemia in Atlantic salmon (Salmo salar L): an orthomyxo-like virus in a teleost....

  15. Anemia as the Main Manifestation of Myelodysplastic Syndromes.

    Science.gov (United States)

    Santini, Valeria

    2015-10-01

    Myelodysplastic syndromes (MDS) are a constellation of different diseases sharing anemia in the great majority of cases, and this cytopenia defines these pathologies and their most dramatic clinical manifestations. Anemia in MDS is due to ineffective erythropoiesis, with a high degree of apoptosis of marrow erythroid progenitors. These progenitors show distinctive dysplastic features that consent diagnosis, and are recognizable and differentiated, although not easily, from other morphologic alterations present in other types of anemia. Reaching the diagnosis of MDS in a macrocytic anemia and alleviating the symptoms of anemia are therefore an essential objective of the treating physician. In this work, the signs and symptoms of anemia in MDS, as well as its peculiar pathophysiology, are discussed. Erythopoietic stimulating agents (ESAs) are providing the best treatment for anemic MDS patients, but their use is still not approved by health agencies. While still waiting for this waiver, their clinical use is widespread and their effectivness is well known, as well as the dismal prognosis of patients who do not respond to ESAs and require transfusions. MDS with del5q constitute a unique model of anemia whose complex pathophysiology has been clarified at least partially, defining its link to ribosomal alterations likewise what observed in hereditary anemias like Blackfan Diamond anemia. Lenalidomide is the agent that has shown striking and specific erythropoietic activity in del5q MDS, and the basis of this response is starting to be understood. Several new agents are under evaluation for ESA refractory/relapsed MDS patients, targeting different putative mechanisms of ineffective erythropoiesis, and are here reviewed.

  16. [Anemia in the elderly].

    Science.gov (United States)

    Maerevoet, M; Sattar, L; Bron, D; Gulbis, B; Pepersack, T

    2014-09-01

    Anaemia is a problem that affects almost 10% over 65 years and 20% over 85 years. There is no physiological anaemia in the elderly. Any anaemia expresses the existence of a pathological process, regardless of its severity. Anaemia in the elderly is always associated with a poor prognosis that is in terms of mortality, morbidity and risk of fragility. The diagnostic approach to anemia in the elderly is the same as in younger individual. There are many causes of anaemia; anaemia balance is a complex diagnostic process. Most anaemias are due to a deficiency, chronic inflammation or comorbidity. However, in the elderly, the etiology of anaemia is often multifactorial. In a number of cases remain unexplained anaemia. In a number of cases, anemia remain unexplained. Treatment of anaemia is the treatment of the cause, but specific therapeutic aspects to the elderly should be considered, as among other martial substitution or use of erythropoietin (EPO).

  17. Hipertensão arterial pulmonar associada à anemia falciforme Sickle cell anemia-associated pulmonary arterial hypertension

    Directory of Open Access Journals (Sweden)

    Roberto Ferreira Pinto Machado

    2007-10-01

    Full Text Available A hipertensão pulmonar é uma complicação comum em pacientes com anemia falciforme. A despeito das elevações leves das pressões pulmonares desses pacientes, a morbimortalidade é alta e, em pacientes adultos com anemia falciforme, a hipertensão pulmonar é um fator de risco muito importante. A patogênese da hipertensão pulmonar relacionada à anemia falciforme é multifatorial e inclui hemólise, baixos níveis de óxido nítrico, hipóxia crônica, tromboembolismo, doença hepática crônica e asplenia. Na maioria dos pacientes, a hipertensão arterial pulmonar é a causa principal para as elevações na pressão arterial pulmonar, mas a hipertensão pulmonar venosa também é um fator contribuinte em alguns pacientes. Existem poucos estudos específicos avaliando os efeitos de tratamento para a hipertensão pulmonar em pacientes com anemia falciforme. É provável que a intensificação da terapia para a anemia hemolítica em todos os pacientes e o tratamento específico para a hipertensão pulmonar em pacientes com doença severa sejam benéficos. Estudos de grande porte avaliando o efeito do tratamento da hipertensão pulmonar em pacientes com anemia falciforme estão em andamento.Pulmonary hypertension is a common complication of sickle cell anemia. Despite the fact that the elevations in pulmonary artery pressures are slight, morbidity and mortality are high. In adult sickle cell anemia patients, pulmonary hypertension is emerging as a major risk factor for death. The pathogenesis of sickle cell anemia-related pulmonary hypertension is multifactorial, including hemolysis, impaired nitric oxide bioavailability, chronic hypoxemia, thromboembolism, chronic liver disease and asplenia. In the majority of patients, pulmonary arterial hypertension is the main cause of elevated pulmonary artery pressures. However, pulmonary venous hypertension also plays a role in a subgroup of patients. Specific data on the effects of treatment

  18. Thiamine– Responsive Megaloblastic Anemia Syndrome

    Directory of Open Access Journals (Sweden)

    F Motavaselian

    2009-01-01

    Full Text Available Thiamine Responsive megaloblastic anemia in DIDMOA (Wolfram syndrome has an autosomal- recessive mode of inheritance . Megaloblastic anemia and sideroblastic anemia is accompanied by diabetes insipidus (DI, diabetes mellitus (DM ,optic atrophy (OA and deafness (D. Neutropenia and thrombocytopenia are also present. We report a 7 month old girl with congenital macrocytic anemia; a rare clinical feature of Wolfram,s syndrome with increased plasma levels of blood glucose, both of which dramatically responded to administration of thiamine in large doses . The patient also had neurosensorial deafness, but no improvement was observed in the deafness. We presented the case because thiamine-responsive megaloblastic anemia is a rare clinical presentation of Wolfram syndrome and after institution of treatment with thiamine, the anemia and hyperglycemia returned to normal.

  19. Hereditary sideroblastic anemia with associated platelet abnormalities.

    Science.gov (United States)

    Soslau, G; Brodsky, I

    1989-12-01

    A 62 year old male (R.H.) presented with a mild anemia (Hb 11-12 gm%) and a history of multiple hemorrhagic episodes. The marrow had 40-50% sideroblasts. Marrow chromosomes were normal. His wife was hematologically normal, while one daughter, age 30 years, had a sideroblastic anemia (Hb 11-12 gm%) with 40-50% sideroblasts in the marrow. Her anemia was first noted at age 15 years. Administration of vitamin B6 did not correct the anemia in either the father or daughter. Platelet abnormalities inherited jointly with this disorder are described for the first time. Both R.H. and his daughter had prolonged bleeding times, with normal PTT, PT times, fVIII:C, fVIII:Ag levels, and vWF multimers, which may rule out a von Willebrand's disease. They have normal platelet numbers but abnormally low platelet adhesiveness and greatly depressed ADP, collagen, and epinephrine responsiveness. Response to ristocetin was in the low normal range, and aggregation with thrombin was normal. While desmopressin completely normalized R.H.'s bleeding time, none of these platelet parameters were improved. No differences in the SDS PAGE protein patterns of RH platelets could be detected in comparison to normal samples. His platelets took up and released serotonin (5HT) normally, and electron micrographs defined no morphological abnormalities. However, no ATP was released from platelets activated with collagen, and when followed by thrombin about fourfold greater ATP was released by control platelets as compared to RH platelets. The dense granule fraction derived from RH platelets contained about 20% the level of ATP, 40% the level of ADP, and 50% the level of 5HT detected in a normal sample. The results indicate that the bleeding disorder is related to a non-classical heritable storage pool defect. The connection between the inherited sideroblastic anemia and platelet defects is obscure.

  20. Analysis of the Relationship between Anemia and Heart Function in Patients with Chronic Heart Failure Caused by Coronary Heart Disease%冠心病慢性心力衰竭患者贫血与心功能关系的研究

    Institute of Scientific and Technical Information of China (English)

    赵媛媛; 王林; 宋芳; 郭慧卿

    2011-01-01

    Objective: To investigate the relationship between anemia and heart function in hospitalized patients with chronic heart failure caused by coronary heart disease. Methods: Patients with chronic heart failure caused by coronary heart disease, who were hospitalized in the Second Hospital of Tianjin Medical University between December 2005 and January 2007, were included in this study. Based on hemoglobin (Hb) levels, patients were divided into anemia group and non-anemia group. The relationship of the incidence data and the cardiac functions was retrospectively analyzed between two groups. Results: There were 1 816 patients in this study, and the proportion of male and female patients with anemia were 16.34% (151/925) and 17.28% (154/891) respectively. The average age was higher in patients of anemia group than that of the non-anemia gronp (t = 6.823, P < 0.01). The proportion of ≥60 years of age was higher in patients of anemia group than that of non-anemia group (x2=13.312, P < 0.01 ). With the progression of the heart function classification, the value of hemoglobin had a lower gradually trend, and the proportion of anemia had a higher gradually trend. There was a negative correlation between the heart function classification and the value of hemoglobin ( r= -0.192, P <0.05). The value of left ventricular end diastolic diameter (LVEDD) was higher, but interventricular septum thickness (IVS) was lower. in patients of anemia group than that of non-anemia group. The majority proportion of left ventricular ejection fraction (LVEF)was ≤0.45 in patients of anemia group. The proportion of E/A ≤ 1 was significantly higher than E/A>1 in patients of two groups.Conclusion: The chronic heart failure should be treated with the correction of anemia at the same time. which could significantly improve the prognosis of patients with chronic heart failure.%目的:探讨冠心病慢性心力衰竭住院患者贫血与心功能之间的

  1. Anemia associated with chronic heart failure: current concepts.

    Science.gov (United States)

    Shah, Ravish; Agarwal, Anil K

    2013-01-01

    Anemia is a frequent comorbidity of heart failure and is associated with poor outcomes. Anemia in heart failure is considered to develop due to a complex interaction of iron deficiency, kidney disease, and cytokine production, although micronutrient insufficiency and blood loss may contribute. Currently, treatment of anemia of heart failure lacks clear targets and specific therapy is not defined. Intravenous iron use has been shown to benefit anemic as well as nonanemic patients with heart failure. Treatment with erythropoietin-stimulating agents has been considered alone or in combination with iron, but robust evidence to dictate clear guidelines is not currently available. Available and emerging new agents in the treatment of anemia of heart failure will need to be tested in randomized, controlled studies.

  2. Management of Iron Deficiency Anemia

    OpenAIRE

    Jimenez, Kristine; Kulnigg-Dabsch, Stefanie; Gasche, Christoph

    2015-01-01

    Anemia affects one-fourth of the world’s population, and iron deficiency is the predominant cause. Anemia is associated with chronic fatigue, impaired cognitive function, and diminished well-being. Patients with iron deficiency anemia of unknown etiology are frequently referred to a gastroenterologist because in the majority of cases the condition has a gastrointestinal origin. Proper management improves quality of life, alleviates the symptoms of iron deficiency, and reduces the need for blo...

  3. Iron-Deficiency Anemia (For Parents)

    Science.gov (United States)

    ... Your 1- to 2-Year-Old Iron-Deficiency Anemia KidsHealth > For Parents > Iron-Deficiency Anemia Print A ... common nutritional deficiency in children. About Iron-Deficiency Anemia Every red blood cell in the body contains ...

  4. Special Issues for People with Aplastic Anemia

    Science.gov (United States)

    ... Menu Donate Special Issues for People with Aplastic Anemia Because you have aplastic anemia , everyday events can ... bleeding, such as contact sports. Pregnancy and Aplastic Anemia Pregnancy is possible for women who have been ...

  5. Drug-induced immune hemolytic anemia

    Science.gov (United States)

    Immune hemolytic anemia secondary to drugs; Anemia - immune hemolytic - secondary to drugs ... Drugs that can cause this type of hemolytic anemia include: Cephalosporins (a class of antibiotics), most common ...

  6. Iron-Deficiency Anemia (For Parents)

    Science.gov (United States)

    ... Your 1- to 2-Year-Old Iron-Deficiency Anemia KidsHealth > For Parents > Iron-Deficiency Anemia A A ... common nutritional deficiency in children. About Iron-Deficiency Anemia Every red blood cell in the body contains ...

  7. ANEMIA SEL SABIT

    Directory of Open Access Journals (Sweden)

    Gede Agus Suwiryawan

    2013-09-01

    Full Text Available Normal 0 false false false EN-US X-NONE X-NONE MicrosoftInternetExplorer4 Anemia is a form of blood disorder most often occurs in the community. Sickle cell anemia is anemia due to hemoglobinopathy caused by a change in the amino acid-6 of the ? globin chain. Sickle cell anemia is common in tropical areas of Africa and some parts of the region Saudi Arabia, India and the Mediterranean as well as black people in America. In addition there are also careers in various European countries. In pathophysiology, there are amino acid change from glutamic acid to valine in the ?-globin chain that causes red blood cells become sickle-shaped when deoxygenatied, but still be able to return to its normal shape when experiencing oxygenation. When the red blood cell membrane have been amended, the polymerization of red blood cells has become irreversible. Clinical picture seen in sickle cell anemia can be divided into two, namely: acute and chronic. Diagnosis can be done is to distinguish between heterozygous or homozygous sickle cell. Treatment provided in accordance with the clinical picture appears. Treatment that can be done is by blood transfusion, bone marrow transplant, anti-sickling drug delivery, and drug delivery to trigger the synthesis of HbF. Treatment still in the development stage is to use stem cells. /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Table Normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-priority:99; mso-style-qformat:yes; mso-style-parent:""; mso-padding-alt:0in 5.4pt 0in 5.4pt; mso-para-margin:0in; mso-para-margin-bottom:.0001pt; mso-pagination:widow-orphan; font-size:11.0pt; font-family:"Calibri","sans-serif"; mso-ascii-font-family:Calibri; mso-ascii-theme-font:minor-latin; mso-fareast-font-family:"Times New Roman"; mso-fareast-theme-font:minor-fareast; mso-hansi-font-family:Calibri; mso-hansi-theme-font:minor-latin; mso-bidi-font-family:"Times New Roman"; mso-bidi-theme-font:minor-bidi;}

  8. Hemolytic anemia caused by chemicals and toxins

    Science.gov (United States)

    ... This list is not all-inclusive. Alternative Names Anemia - hemolytic - caused by chemicals or toxins References Michel M. Autoimmune and intravascular hemolytic anemias. In: Goldman L, Schafer ...

  9. Anemia Aplástica e Gravidez: Relato de Caso Aplastic Anemia and Pregnancy: A Case Report

    Directory of Open Access Journals (Sweden)

    Rosiane Alves de Sousa Teles

    2002-06-01

    Full Text Available A anemia aplástica é distúrbio caracterizado por pancitopenia e medula óssea hipocelular, com substituição gordurosa dos elementos e sem nenhum sinal de transformação maligna ou doença mieloproliferativa. Acomete geralmente adultos jovens e idosos, sem preferência sexual. A maioria dos casos é adquirida, mas pode ocorrer hereditariamente, por distúrbio molecular (anemia de Fanconi. A associação com gravidez é rara, estando relacionada com alta morbidade e mortalidade materna e fetal. Os autores descrevem o caso de uma paciente com anemia aplástica, diagnosticada previamente, cuja gestação complicou com infecção do trato urinário, doença hipertensiva específica da gestação e restrição de crescimento fetal, com parto prematuro eletivo. Apesar das condições adversas na gravidez e parto, mãe e recém-nascido tiveram evolução clínica satisfatória.Aplastic anemia is characterized by a circulating pancytopenia, hypocellularity, and fatty replacement of cellular marrow elements, without evidence of malignant transformation or myeloproliferative disease. It usually affects young and senior adults, without any sexual preference. Most cases of aplastic anemia are acquired, but the disease may also be inherited due to a molecular disorder (Fanconi's anemia. Aplastic anemia in pregnancy is an extremely rare condition with high maternal and fetal morbidity and mortality rates. The authors describe a case of a patient with previously diagnosed aplastic anemia, whose pregnancy was complicated with urinary tract infection, preeclampsia and fetal growth restriction, with elective preterm birth. In spite of the adverse conditions in pregnancy and delivery, mother and newborn had a satisfactory clinical evolution.

  10. O hemograma nas anemias microcíticas e hipocrômicas: aspectos diferenciais Blood tests in microcytic and hypochromic anemias: differential aspects

    Directory of Open Access Journals (Sweden)

    Januária Fonseca Matos

    2012-08-01

    Full Text Available O diagnóstico diferencial das anemias microcíticas é clinicamente importante. Na tentativa de tornar esse diagnóstico menos oneroso e mais eficiente, o uso de parâmetros dos contadores automáticos tem sido sugerido. O objetivo deste estudo foi avaliar a eficiência diagnóstica de alguns parâmetros do hemograma na diferenciação das anemias microcíticas. Foram comparados os parâmetros hematológicos de 395 pacientes portadores de anemia ferropriva, anemia de doença crônica ou talassemia menor. O número de hemácias apresentou os maiores valores combinados de sensibilidade e especificidade na diferenciação dessas anemias. Em conclusão, a contagem de hemácias pode ser útil no diagnóstico diferencial de anemias microcíticas.Differential diagnosis of microcytic anemia is clinically important. In an attempt to make this diagnosis more cost-effective, the use of some parameters obtained from automated blood count analyzers has been suggested. The objective of this study was to evaluate the efficiency of blood count parameters in differentiating microcytic anemias. Blood parameters were compared in 395 patients with iron deficiency anemia, chronic disease anemia or thalassemia minor. The number of red blood cells showed the highest combined sensitivity and specificity in differentiating these anemias. Hence, blood counts may be a useful tool in the differential diagnosis of microcytic anemias.

  11. Environmental lead exposure as a risk for childhood aplastic anemia.

    Science.gov (United States)

    Ahamed, M; Akhtar, M J; Verma, S; Kumar, A; Siddiqui, M K J

    2011-01-01

    Concern about environmental lead exposure as a significant public health threat has increased as evidence has accumulated regarding adverse health effects at successively lower levels. Aplastic anemia is a hematological disorder of unknown etiology with a high lethality rate. Lead is a known toxicant for the hematopoietic system. Oxidative stress appears to be the possible mode of lead toxicity. We evaluated the effects of blood lead level on oxidative stress parameters in children suffering from aplastic anemia disease. Seventeen children with aplastic anemia disease (15 male and 2 female, age 3-12 y) were recruited in the study group. Fifty one healthy children (45 male and 6 female, age 3-12 y) having normal blood profiles and not suffering from any chronic disease(s) were used as controls. Blood lead level and oxidative stress parameters were determined. Mean blood lead level was significantly higher while δ-aminolevulinic acid dehydratase (δ-ALAD) activity, a biomarker for lead exposure was significantly lower in the study group as compared to the control group (p lead levels with δ-ALAD (r = -0.45; p lead induces oxidative stress in children suffering from aplastic anemia. Lead-induced oxidative stress as an underlying mechanism for aplastic anemia warrants further research.

  12. [A case of steroid resistant autoimmune hemolytic anemia in ulcerative colitis].

    Science.gov (United States)

    Choi, Hyun Jong; Hong, Su Jin; Kim, Young Jee; Ko, Bong Min; Lee, Moon Sung; Shim, Chan Sup; Kim, Hyun Jung; Hong, Dae Sik

    2008-02-01

    Autoimmunity is thought to play a central role in the pathogenesis of inflammatory bowel disease and associated extraintestinal manifestations. Autoimmune hemolytic anemia associated with ulcerative colitis is a rare occurrence. No more than 50 cases have been described in the international literatures, and only 2 cases reported in Korea. A 29-year-old woman who was diagnosed as ulcerative colitis two years ago was complicated with autoimmune hemolytic anemia, and did not respond to steroid therapy. Ultimately, total colectomy and splenectomy were carried out for the treatment of ulcerative colitis and hemolytic anemia. After the operation, anemia was resolved. We present the case with a review of literature.

  13. Iron overload complicating sideroblastic anemia--is the gene for hemochromatosis responsible?

    Science.gov (United States)

    Barron, R; Grace, N D; Sherwood, G; Powell, L W

    1989-04-01

    Idiopathic hemochromatosis is a hereditary disease that is associated with human leucocytic antigens A3, B7, and B14. A genetic association between human leucocytic antigen-linked hemochromatosis and idiopathic refractory sideroblastic anemia has been suggested that may predispose some patients with idiopathic refractory sideroblastic anemia to develop gross iron overload. Study of the family of a patient with idiopathic refractory sideroblastic anemia and hemochromatosis revealed that 2 of 5 first-degree relatives had significant elevations of serum ferritin, and a shared human leucocytic antigen haplotype, supporting the concept that patients with idiopathic refractory sideroblastic anemia and significant iron overload have at least one allele for hemochromatosis.

  14. Imaging Diagnosis of Neonatal Anemia: Report of Two Unusual Etiologies

    Directory of Open Access Journals (Sweden)

    Shabnam Bhandari Grover

    2013-01-01

    Full Text Available Anemia in neonatal period is rare, with the common causes being Rh and ABO blood group incompatibility, hemorrhagic disease of newborn, congenital hemolytic anemia, hemoglobinopathies, and TORCH (toxoplasmosis, rubella, cytomegalovirus, herpes virus infections. Congenital leukemia and infantile osteopetrosis (OP are among the rare causes of neonatal anemia. A review of the literature shows approximately 200 reported cases of congenital leukemia. Articles describing the imaging features of congenital leukemia are still rarer. Infantile OP, another rare disorder with a reported incidence of 1 in 250,000 has characteristic imaging features, which are diagnostic of the disease. We report a case each, of two rare diseases: Congenital leukemia and infantile osteopetrosis. Additionally, our report highlights the radiological and imaging features of congenital leukemia and infantile OP and their crucial role in arriving at an early diagnosis.

  15. Investıgatıon of malignancy in diabetic patients with anemia

    Directory of Open Access Journals (Sweden)

    Selcuk Yaylaci

    2014-01-01

    Full Text Available Introduction: The etiology of anemia is multifactorial in diabetes and covers inflammation, diabetes, nutritional deficiencies, autoimmune diseases, medications and hormonal changes, in addition to the kidney diseases or may be malignancy. In this study, it was aimed to study the profile of the malignancy in patients with type 2 diabetes mellitus (DM and anemia. Materials and Methods: The files of the follow-up patients with type 2 diabetes were retrospectively reviewed and 103 patients with type 2 DM and anemia were included in the study. The demographic, hematological and biochemical analysis of the data was performed in the diabetic patients with anemia. The frequency of malignancy in diabetic patients with anemia, the etiology of malignancy, the relationship between the presence of malignancy and anemia type and depth, biochemical parameters in the determination of malignancy, the effects of endoscopic and imaging methods, the presence of anemia in patients without malignancy and the effect of in-depth glomerular filtration rate were investigated. Results: The iron deficiency anemia (69.9% was the most common. Malignancy was found in 11 of the 103 patients (10.7%. 2 patients (1.9% had stomach cancer, 4 patients (6.3% had colon cancer in endoscopic procedures. In computerized tomography images, 5 patients were found to be malignant in addition to the stomach and colon cancer. The erythrocyte sedimentation rate was significantly higher in the group with malignancy. No correlation was found between malignancy and anemia type and depth. Conclusion: Screening for malignancy should be considered in diabetic patients with anemia, especially in patients with elevated erythrocyte sedimentation rate, regardless of the type and depth of the anemia. In addition, tomography should be recommended for malignancy screening in diabetic patients with anemia that have a normal gastrointestinal examination.

  16. Slow Hematological Recovery in Children With IBD-associated Anemia in Cases of "Expectant Management"

    NARCIS (Netherlands)

    Pels, Lise P. M.; de Vijver, Els Van; Waalkens, Herman J.; Uitentuis, Jan; Gonera-de Jong, Gieneke; van Overbeek, Lidy A. T.; Norbruis, Obbe F.; Rings, Edmond H. H. M.; van Rheenen, Patrick F.

    2010-01-01

    Background and Objective: Allowing children with inflammatory bowel disease (IBD) to live with subnormal hemoglobin (Hb) levels affects their quality of life. The therapeutic approach to normalize Hb varies according to the cause of IBD-associated anemia. In exclusive iron-deficiency anemia (IDA) re

  17. Prevention of Iron-Deficiency Anemia in Infants and Children of Preschool Age.

    Science.gov (United States)

    Fomon, Samuel J.

    Iron-deficiency anemia is almost certainly the most prevalent nutritional disorder among infants and young children in the United States. Anemia is frequently seen among children of low socioeconomic status but is probably also the most frequent nutritional deficiency disease seen among children cared for by private doctors. Possible reasons for…

  18. Management of aplastic anemia in a woman during pregnancy: A case report

    NARCIS (Netherlands)

    K.J.M. Stibbe (Krista J. M.); H.I.J. Wildschut (Hajo); P.J. Lugtenburg

    2011-01-01

    textabstractIntroduction. Aplastic anemia is a rare disease caused by destruction of pluripotent stem cells in bone marrow. During pregnancy it could be life-threatening for both mother and child. The only causal therapy for aplastic anemia is bone marrow transplantation, which is contraindicated du

  19. Prevalence of Anemia and Its Impact on Mortality and Hospitalization Rate in Predialysis Patients

    NARCIS (Netherlands)

    Voormolen, N.; Grootendorst, D. C.; Urlings, T. A. J.; Boeschoten, E. W.; Sijpkens, Y. W.; Huisman, R. M.; Krediet, R. T.; Dekker, F. W.

    2010-01-01

    Background/Aim: Anemia is associated with increased mortality and morbidity in both early and very late stages of chronic kidney disease (CKD). The aim of this study was to assess whether anemia is a risk factor for mortality or hospitalization in CKD stage 4-5 predialysis patients not yet on dialys

  20. Sobrecarga e quelação de ferro na anemia falciforme Iron overload and iron chelation in sickle cell disease

    Directory of Open Access Journals (Sweden)

    Rodolfo D. Cançado

    2007-09-01

    Full Text Available Pacientes cronicamente transfundidos desenvolvem sobrecarga de ferro que ocasiona lesão orgânica e morte. Nos últimos trinta anos, pacientes com sobrecarga de ferro transfusional dependem de infusões noturnas de desferroxamina para quelação de ferro. Apesar da dramática melhora da expectativa de vida na era da desferroxamina para pacientes com anemias dependentes de transfusão, 50% dos pacientes com talassemia maior morrem antes dos 30 anos de idade, predominantemente devido à insuficiência cardíaca induzida pelo ferro. A difícil natureza desse tratamento com infusão subcutânea prolongada por meio de aparelho infusor portátil motivou o desenvolvimento de formas alternativas de tratamento que facilitasse a aderência do paciente. Estratégias para reduzir a sobrecarga de ferro e suas conseqüências, através da melhora dos regimes de quelação, foram as prioridades mais importantes nos últimos anos. Nesta revisão, descrevemos os avanços mais importantes da terapia quelante de ferro. Em particular, analisamos os dois quelantes de ferro ativos por via oral: deferiprona e o novo quelante de ferro oral deferasirox.Patients who are chronically dependent on transfusions will develop iron overload that leads to organ damage and eventually to death. For nearly 30 years, patients with transfusional iron overload have been subject to overnight deferoxamine infusions for iron chelation. Despite dramatic gains in terms of life expectancy in the deferoxamine era for patients with transfusion-dependent anemias, 50% of patients with thalassemia major die before the age of 35 years, predominantly due to iron-induced heart failure. The very demanding nature of this treatment with prolonged subcutaneous infusion via portable pump infusions has been the motivation for attempts to develop alternative forms of treatment that would facilitate the patients' compliance. Strategies to reduce iron overload and its consequences by improving chelation

  1. A replication study for association of ITPKC and CASP3 two-locus analysis in IVIG unresponsiveness and coronary artery lesion in Kawasaki disease.

    Directory of Open Access Journals (Sweden)

    Ho-Chang Kuo

    Full Text Available Single-nucleotide polymorphisms (SNPs in inositol 1,4,5-trisphosphate 3-kinase C (ITPKC, rs28493229 and caspase-3 (CASP3, rs113420705 are associated with susceptibility to KD in Japanese and Taiwanese populations. This study was conducted to investigate the involvement of these 2 SNPs in the risk for intravenous immunoglobulin (IVIG resistance and coronary artery lesion (CAL in Taiwanese population. A total of 340 KD patients were subjected to assess by the identification of 2-locus genes model. A combinatorial association between ITPKC (rs28493229 and CASP3 (rs113420705 was found in CAL formation (P = 0.0227, OR: 3.06. KD patients with high-risk genotype had a trend of overrepresentation in IVIG resistance compared with individual SNPs. Our findings suggest the existence of genetic factors affecting patients' risk for CAL formation and IVIG responsiveness in a Taiwanese population.

  2. Giant cell hepatitis and autoimmune hemolytic anemia after chickenpox.

    Science.gov (United States)

    Baran, Maşallah; Özgenç, Funda; Berk, Ömer; Gökçe, Demir; Kavakli, Kaan; Yilmaz, Funda; Şen, Sait; Yağci, Raşit Vural

    2010-12-01

    Autoimmune hemolytic anemia with giant cell hepatitis is a distinct entity in children. It is usually fatal with progressive liver disease. Immunosuppressive treatment with conventional drugs offers some response; however, it is usually only temporary. Alternative therapeutic options with monoclonals have been reported with promising remission of the disease. We report a case with autoimmune hemolytic anemia+giant cell hepatitis after varicella infection. She was resistant to standard immunosuppressive combinations, and rescue therapy with rituximab was used. Remission was not achieved with the drug and the child died with septic complication.

  3. Observação de anemia hemolítica auto-imune em artrite reumatóide Observation of autoimmune hemolytic anemia in rheumatoid arthritis

    Directory of Open Access Journals (Sweden)

    Ricardo A. S. Souza

    2003-01-01

    Full Text Available Artrite reumatóide é uma doença difusa do tecido conjuntivo que se caracteriza pelo acometimento articular e sistêmico. Disfunções hematológicas como anemia ocorrem em até 65% dos pacientes, sendo a anemia das doenças crônicas a forma mais comum. A anemia hemolítica auto-imune pode estar associada à difusa do tecido conjuntivo, sendo classicamente associada ao lúpus eritematoso sistêmico e fazendo parte dos seus critérios de classificação. A presença de anemia hemolítica auto-imune em artrite reumatóide é relatada raramente na literatura e os mecanismos etiopatogênicos para o seu desenvolvimento ainda não estão esclarecidos. Descrevemos um caso de artrite reumatóide no adulto e outro de artrite reumatóide juvenil que desenvolveram anemia hemolítica auto-imune e discutimos os prováveis mecanismos etiopatogênicos envolvidos.Rheumatoid arthritis is a connective tissue disease characterized by articular and systemic involvement. Hematological abnormalities such as anemia may occur in up to 65% of the patients, with chronic disease anemia being the commonest form. Autoimmune hemolytic anemia can be associated with different connective tissue diseases, particularly systemic lupus erythematosus and it is part of its classification criteria. On the other hand, the presence of autoimmune hemolytic anemia in rheumatoid arthritis has rarely been described in the literature and the pathogenic mechanisms for its development remain unclear. We describe here a case of rheumatoid arthritis and another of juvenile rheumatoid arthritis that developed to autoimmune hemolytic anemia and present the probable etiopathogenic mechanisms.

  4. Addison disease

    Science.gov (United States)

    ... amounts of some or all of its hormones ( hypopituitarism ) Autoimmune disorder that affects the nerves and the ... disease) Dermatitis herpetiformis Diabetes Graves disease Hyperthyroidism Hypoparathyroidism Hypopituitarism Immune response Myasthenia gravis Ovarian hypofunction Pernicious anemia ...

  5. Pure red cell aplasia following autoimmune hemolytic anemia: An enigma

    Directory of Open Access Journals (Sweden)

    M Saha

    2013-01-01

    Full Text Available A 26-year-old previously healthy female presented with a 6-month history of anemia. The laboratory findings revealed hemolytic anemia and direct antiglobulin test was positive. With a diagnosis of autoimmune hemolytic anemia (AIHA, prednisolone was started but was ineffective after 1 month of therapy. A bone marrow trephine biopsy revealed pure red cell aplasia (PRCA showing severe erythroid hypoplasia. The case was considered PRCA following AIHA. This combination without clear underlying disease is rare. Human parvovirus B19 infection was not detected in the marrow aspirate during reticulocytopenia. The patient received azathioprine, and PRCA improved but significant hemolysis was once again documented with a high reticulocyte count. The short time interval between AIHA and PRCA phase suggested an increased possibility of the evolution of a single disease.

  6. Pure red cell aplasia following autoimmune hemolytic anemia: an enigma.

    Science.gov (United States)

    Saha, M; Ray, S; Kundu, S; Chakrabarti, P

    2013-01-01

    A 26-year-old previously healthy female presented with a 6-month history of anemia. The laboratory findings revealed hemolytic anemia and direct antiglobulin test was positive. With a diagnosis of autoimmune hemolytic anemia (AIHA), prednisolone was started but was ineffective after 1 month of therapy. A bone marrow trephine biopsy revealed pure red cell aplasia (PRCA) showing severe erythroid hypoplasia. The case was considered PRCA following AIHA. This combination without clear underlying disease is rare. Human parvovirus B19 infection was not detected in the marrow aspirate during reticulocytopenia. The patient received azathioprine, and PRCA improved but significant hemolysis was once again documented with a high reticulocyte count. The short time interval between AIHA and PRCA phase suggested an increased possibility of the evolution of a single disease.

  7. [Iron deficiency and iron deficiency anemia are global health problems].

    Science.gov (United States)

    Dahlerup, Jens; Lindgren, Stefan; Moum, Björn

    2015-03-10

    Iron deficiency and iron deficiency anemia are global health problems leading to deterioration in patients' quality of life and more serious prognosis in patients with chronic diseases. The cause of iron deficiency and anemia is usually a combination of increased loss and decreased intestinal absorption and delivery from iron stores due to inflammation. Oral iron is first line treatment, but often hampered by intolerance. Intravenous iron is safe, and the preferred treatment in patients with chronic inflammation and bowel diseases. The goal of treatment is normalisation of hemoglobin concentration and recovery of iron stores. It is important to follow up treatment to ensure that these objectives are met and also long-term in patients with chronic iron loss and/or inflammation to avoid recurrence of anemia.

  8. A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K

    Directory of Open Access Journals (Sweden)

    Cassereau Julien

    2011-12-01

    Full Text Available Abstract Background The ganglioside-induced differentiation-associated protein 1 gene (GDAP1, which is involved in the Charcot-Marie-Tooth disease (CMT, the most commonly inherited peripheral neuropathy, encodes a protein anchored to the mitochondrial outer membrane. The phenotypic presentations of patients carrying GDAP1 mutations are heterogeneous, making it difficult to determine genotype-phenotype correlations, since the majority of the mutations have been found in only a few unrelated patients. Locus-specific databases (LSDB established in the framework of the Human Variome Project provide powerful tools for the investigation of such rare diseases. Methods and Results We report the development of a publicly accessible LSDB for the GDAP1 gene. The GDAP1 LSDB has adopted the Leiden Open-source Variation Database (LOVD software platform. This database, which now contains 57 unique variants reported in 179 cases of CMT, offers a detailed description of the molecular, clinical and electrophysiological data of the patients. The usefulness of the GDAP1 database is illustrated by the finding that GDAP1 mutations lead to primary axonal damage in CMT, with secondary demyelination in the more severe cases of the disease. Conclusion Findings of this nature should lead to a better understanding of the pathophysiology of CMT. Finally, the GDAP1 LSDB, which is part of the mitodyn.org portal of databases of genes incriminated in disorders involving mitochondrial dynamics and bioenergetics, should yield new insights into mitochondrial diseases.

  9. Severe autoimmune hemolytic anemia with renal neoplasm.

    Science.gov (United States)

    Rhodes, Emily C; Parikh, Sahil P; Bhattacharyya, Nishith

    2014-02-01

    Autoimmune hemolytic anemia is a type of hemolytic anemia characterized by autoantibodies directed against red blood cells shortening their survival. When autoimmune hemolytic anemia is secondary to a paraneoplastic process, severe anemia can occur leading to significant morbidity and even mortality. Here we discuss the literature and present the case of a child with autoimmune hemolytic anemia from a paraneoplastic syndrome secondary to a renal tumor.

  10. Anemia in the general population

    DEFF Research Database (Denmark)

    Martinsson, Andreas; Andersson, Charlotte; Andell, Pontus

    2014-01-01

    Low hemoglobin concentration is associated with increased mortality, but there is disagreement with regard to the clinical definition of anemia. We aimed to evaluate the prevalence, clinical correlates and association with total and cause-specific long-term mortality across the hemoglobin...... distribution and for previously proposed definitions of anemia. Blood hemoglobin concentration and mean corpuscular volume was measured in participants of the Malmö diet and cancer study-a prospective cohort study, and related to baseline characteristics and outcomes during follow-up. Primary endpoints were...... of anemia, hazard ratio: 1.36, 1.94 and 2.16 for hemoglobin

  11. Aplastic anemia: A common hematological abnormality among peripheral pancytopenia

    Directory of Open Access Journals (Sweden)

    Haldar Biswajit

    2012-01-01

    Full Text Available Background: Aplastic anemia is a well-recognized form of marrow failure. The incidence of aplastic anemia is subjected to wide variation. Most cases are acquired and immune-mediated but there are also inherited forms. Aim: The study was conducted to assess the magnitude of the problem, morphological changes and determinants of aplastic anemia in North Bengal. Materials and Methods: A cross-sectional study had been conducted for a period of one year among 5 to 70 years age group. Initially complete blood count followed by bone marrow examination was done for diagnosis. Results: Out of 48 cases, 38 (79.17% had hypocellular diagnosed as aplastic anemia, 5 (10.42% each had normocellular and hypercellular bone marrow. Histopathology shows that 30 (78.95% cases had increased iron stores in bone marrow and 8 (21.05% cases had decreased iron stores. Subjects less than 20 years of age mostly (31.58% suffered from non-severe disease in contrast to subjects in higher age groups who had severe or very severe disease, though the trend was not significantly different (χ2 for linear trend 0.171, P > 0.05. Conclusion: The study shows aplastic anemia is a common hematological abnormality among peripheral pancytopenia in North Bengal region where males were affected more than females.

  12. Eliana Machado, Locus Brasilis

    OpenAIRE

    Ramos, Domingo

    2013-01-01

    Locus Brasilis es un complejo libro de la poeta brasileña y trilingüe Eliana Machado, que actualmente radica en Europa y por primera vez publica en el Perú. El volumen, el segundo de la autora luego de Blanco en el blanco, que apareció en Sao Paulo, consta de tres partes bien definidas, que corresponden a los tres reinos de la naturaleza. En poesía esto se traslada al hombre con sus respectivos correlatos del animal como ser destructivo, pero también conciliador y hasta protector de un mundo ...

  13. A suppressor locus for MODY3-diabetes

    Science.gov (United States)

    Garcia-Gonzalez, Miguel A.; Carette, Claire; Bagattin, Alessia; Chiral, Magali; Makinistoglu, Munevver Parla; Garbay, Serge; Prévost, Géraldine; Madaras, Cécile; Hérault, Yann; Leibovici, Michel; Pontoglio, Marco

    2016-01-01

    Maturity Onset Diabetes of the Young type 3 (MODY3), linked to mutations in the transcription factor HNF1A, is the most prevalent form of monogenic diabetes mellitus. HNF1alpha-deficiency leads to defective insulin secretion via a molecular mechanism that is still not completely understood. Moreover, in MODY3 patients the severity of insulin secretion can be extremely variable even in the same kindred, indicating that modifier genes may control the onset of the disease. With the use of a mouse model for HNF1alpha-deficiency, we show here that specific genetic backgrounds (C3H and CBA) carry a powerful genetic suppressor of diabetes. A genome scan analysis led to the identification of a major suppressor locus on chromosome 3 (Moda1). Moda1 locus contains 11 genes with non-synonymous SNPs that significantly interacts with other loci on chromosomes 4, 11 and 18. Mechanistically, the absence of HNF1alpha in diabetic-prone (sensitive) strains leads to postnatal defective islets growth that is remarkably restored in resistant strains. Our findings are relevant to human genetics since Moda1 is syntenic with a human locus identified by genome wide association studies of fasting glycemia in patients. Most importantly, our results show that a single genetic locus can completely suppress diabetes in Hnf1a-deficiency. PMID:27667715

  14. Low serum levels of prohepcidin, but not hepcidin-25, are related to anemia in familial amyloidosis TTR V30M.

    NARCIS (Netherlands)

    Beirao, I.; Almeida, S.; Swinkels, D.W.; Costa, P.M.; Moreira, L.; Fonseca, I.; Freitas, C.; Cabrita, A.; Porto, G.

    2008-01-01

    Familial amyloidosis TTR V30M (FAP-I) usually presents as a sensorimotor and autonomic neuropathy. Anemia was first described in this disease more than 20 years ago and classified as an anemia of chronic disease. However, so far no studies have addressed the role of inflammatory proteins in this dis

  15. ANEMIA DAN ANEMIA GIZI BESI PADA KEHAMILAN: HUBUNGANNYA DENGAN ASUPAN PROTEIN DAN ZAT GIZI MIKRO

    OpenAIRE

    Nur Handayani Utami; Bunga CH. Rosha

    2015-01-01

    Anemia masih menjadi permasalahan kesehatan pada wanita hamil. Zat besi dianggap sebagai salah satu zat gizi mikro yang berperan terhadap terjadinya anemia. Kekurangan gizi besi dalam tingkat lanjut dapat menyebabkan anemia, yang disebut sebagai anemia gizi besi. Tujuan studi ini adalah untuk menganalisis perbedaan antara asupan protein dan gizi mikro serta menghitung odd ratio (OR) kejadian anemia dan anemia gizi besi akibat asupan protein dan gizi mikro pada wanita hamil di lokasi studi. An...

  16. Iron deficiency decreases hemolysis in sickle cell anemia Anemia ferropriva diminui hemólise em anemia falciforme

    Directory of Open Access Journals (Sweden)

    Oswaldo Castro

    2009-02-01

    Full Text Available A woman with homozygous sickle cell disease developed severe iron deficiency due to long-standing uterine bleeding. At this point, the serum lactic dehydrogenase level was normal and the reticulocyte count was only minimally elevated. This suggested that the low red cell hemoglobin concentration that resulted from iron deficiency also decreased Hb S polymerization and lowered the hemolytic rate. Iron replacement led first to a substantially improved hemoglobin concentration with only a minimal increase in the hemolytic rate and secondarily to a modest further improvement in the hemoglobin concentration and a marked increase in the hemolytic rate. The hematologic changes observed in this patient, and those in other iron deficient sickle cell patients reported in the literature, suggest that it may be appropriate to consider the induction of an intermediate iron deficient stage as experimental treatment in adult sickle cell patients.Uma mulher com anemia falciforme homozigose para a Hb S evoluiu com anemia ferropriva grave devido a sangramento uterino prolongado. A dosagem de dehidrogenase lática era normal e a contagem de reticulócitos estava levemente aumentada. Isto sugere que concentrações baixas de hemoglobina, que resulta de anemia ferropriva, também diminuem a polimeração de Hb S e reduz a taxa de hemólise. O complemento de ferro levou, primeiramente, a uma concentração substancialmente maior de hemoglobina com apenas um aumento mínimo na taxa hemolítica e subsequentemente a um aumento leve adicional na concentração da hemoglobina e um aumento notável na taxa hemolítica. As mudanças hematológicas observadas nesta paciente e aquelas em outras pacientes com anemia falciforme e também deficientes de ferro relatadas na literatura sugerem que pode ser interessante considerar a indução de deficiência de ferro como tratamento experimental em pacientes adultos com anemia falciforme.

  17. Iron, anemia and hepcidin in malaria

    Directory of Open Access Journals (Sweden)

    Natasha eSpottiswoode

    2014-05-01

    Full Text Available Malaria and iron have a complex but important relationship. Plasmodium proliferation requires iron, both during the clinically silent liver stage of growth and in the disease-associated phase of erythrocyte infection. Precisely how the protozoan acquires its iron from its mammalian host remains unclear, but iron chelators can inhibit pathogen growth in vitro and in animal models. In humans, iron deficiency appears to protect against severe malaria, while iron supplementation increases risks of infection and disease. Malaria itself causes profound disturbances in physiological iron distribution and utilization, through mechanisms that include hemolysis, release of heme, dyserythropoiesis, anemia, deposition of iron in macrophages, and inhibition of dietary iron absorption. These effects have significant consequences. Malarial anemia is a major global health problem, especially in children, that remains incompletely understood and is not straightforward to treat. Furthermore, the changes in iron metabolism during a malaria infection may modulate susceptibility to coinfections. The release of heme and accumulation of iron in granulocytes may explain increased vulnerability to non-typhoidal Salmonella during malaria. The redistribution of iron away from hepatocytes and into macrophages may confer host resistance to superinfection, whereby blood-stage parasitemia prevents the development of a second liver-stage Plasmodium infection in the same organism. Key to understanding the pathophysiology of iron metabolism in malaria is the activity of the iron regulatory hormone hepcidin. Hepcidin is upregulated during blood-stage parasitemia and likely mediates much of the iron redistribution that accompanies disease. Understanding the regulation and role of hepcidin may offer new opportunities to combat malaria and formulate better approaches to treat anemia in the developing world.

  18. Genetic/metabolic effect of iron metabolism and rare anemias

    Directory of Open Access Journals (Sweden)

    Clara Camaschella

    2013-03-01

    Full Text Available Advances in iron metabolism have allowed a novel classification of iron disorders and to identify previously unknown diseases. These disorders include genetic iron overload (hemochromatosis and inherited iron-related anemias, in some cases accompanied by iron overload. Rare inherited anemias may affect the hepcidin pathway, iron absorption, transport, utilization and recycling. Among the genetic iron-related anemias the most common form is likely the iron-refractory iron-deficiency anemia (IRIDA, due to mutations of the hepcidin inhibitor TMPRSS6 encoding the serine protease matriptase-2. IRIDA is characterized by hepcidin up-regulation, decrease iron absorption and macrophage recycling and by microcytic- hypochromic anemia, unresponsive to oral iron. High serum hepcidin levels may suggest the diagnosis, which requires demonstrating the causal TMPRSS6 mutations by gene sequencing. Other rare microcytic hypochromic anemias associated with defects of iron transport-uptake are the rare hypotransferrinemia, and DMT1 and STEAP3 mutations. The degree of anemia is variable and accompanied by secondary iron overload even in the absence of blood transfusions. This is due to the iron-deficient or expanded erythropoiesis that inhibits hepcidin transcription, increases iron absorption, through the erythroid regulator, as in untransfused beta-thalassemia. Sideroblastic anemias are due to decreased mitochondrial iron utilization for heme or sulfur cluster synthesis. Their diagnosis requires demonstrating ringed sideroblasts by Perl’s staining of the bone marrow smears. The commonest X-linked form is due to deltaamino- levulinic-synthase-2-acid (ALAS2 mutations. The recessive, more severe form, affects SLC25A38, which encodes a potential mitochondrial importer of glycine, an amino acid essential for ALA synthesis and thus results in heme deficiency. Two disorders affect iron/sulfur cluster biogenesis: deficiency of the ATP-binding cassette B7 (ABCB7 causes X

  19. How Is Hemolytic Anemia Treated?

    Science.gov (United States)

    ... G6PD) deficiency can avoid substances that may trigger anemia. For example, avoid fava beans, naphthalene (a substance found in some moth balls), and certain ... INDEX ACCESSIBILITY PRIVACY STATEMENT FOIA NO FEAR ACT OIG ...

  20. Malarial anemia and STAT6

    OpenAIRE

    Robson, Kathryn J.H.; Weatherall, David J

    2009-01-01

    Understanding the mechanisms behind malarial anemia should lead to new approaches to the management and treatment of children. In this perspective article Drs. Robson and Weatherall examine the pathophysiology of this condition. See related article on page 195.