ESFEROCITOSIS HEREDITARIA PDF

Esferocitosis hereditaria. Carolina Cózar Trastorno hemolítico familiar caracterizado por: anemia ictericia intermitente esplenomegalia. El estudio realizado en Luxemburgo demuestra que la prevalencia de esferocitosis hereditaria es mucho más alta que la considerada hasta ahora. Resumen. HERRERA GARCIA, Mayelín y ESTRADA DEL CUETO, Marianela. Hereditary spherocytosis: Clinical, biochemical and molecular aspects.

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Polish Academjy of Sciences? Patient and physician should be informed of the presence of HS to efserocitosis misinterpretation of concurrent pathological symptoms. You can change the settings or obtain more information by clicking here.

The documents contained in this web site are presented for information purposes only. Previous article Next article. Continuing navigation will be considered as acceptance of this use. Hereditary spherocytosis HS is a disease characterized by hemolytic anemia of variable severity, with spherocytes in peripheral blood and a clinical response to splenectomy.

Differential diagnosis Differential diagnoses include hereditary elliptocytosis, hereditary stomatocytosis, Southeast Asian ovalocytosis, glucosephosphate dehydrogenase deficiency, pyruvate kinase deficiency, autoimmune hemolytic anemia, and esferocitosia see these terms.

Differential diagnoses include hereditary elliptocytosis, hereditary stomatocytosis, Southeast Asian ovalocytosis, glucosephosphate dehydrogenase deficiency, pyruvate kinase deficiency, autoimmune hemolytic anemia, and alpha-thalassemia see these terms.

Rev Cubana Hematol Inmunol Hemoter [online].

Are you a health professional able to prescribe or dispense drugs? Monitoring of blood glucose and ferritin is heteditaria.

For all other comments, please send your remarks via contact us. August – September Pages ee78 Pages A combined splenectomy and cholecystectomy may be beneficial in patients with gallstones.

Esferocitosis hereditaria by Jazmin Cózar Madero on Prezi

Este hecho explica la discrepancia entre estos valores. Laparoscopic splenectomy is preferred if performed by experienced surgeons. Rare complications include poor growth, skin ulceration, chronic dermatitis, high output heart failure, and secondary iron overload. This procedure is recommended for patients with severe hemolytic anemia and moderately asymptomatic individuals who have vesicular lithiasis Palabras clave: The journal fully endorses the goals of updating knowledge and facilitating the acquisition of key developments in internal medicine applied to clinical practice.

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The development of new techniques allowed finding out the first biochemical alterations in erythrocyte membrane proteins and later on, the recombinant DNA techniques made possible to detect molecular alternations.

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Orphanet: Esferocitosis hereditaria

Only comments seeking to improve the quality and accuracy of information on the Orphanet ezferocitosis are accepted. To improve our services and products, we use “cookies” own or third parties authorized to show advertising related to client preferences through the analyses of navigation customer behavior. Pre and post-splenectomy vaccine prophylaxis and prophylactic antibiotics are recommended in order to prevent infections. From Monday to Friday from 9 a.

This explains the discrepancy between these values. Subscribe to our Newsletter.

HS being a hemolytic defect, frequently increased iron overload was not unexpected. SRJ is a prestige metric based on the idea that not all citations are the same. Disease definition Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum from symptom-free carriers to severe hemolysis characterized by anemia, variable jaundice, splenomegaly and cholelithiasis. Treatment involves management of jaundice phototherapy and even exchange blood transfusion to prevent hyperbilirubinemic encephalopathy and RBC transfusions in case of severe, symptomatic anemia.

Splenectomy usually results in disappearance of anemia and clear amelioration of hemolytic markers.

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It has been proved that this disease is caused by defects in proteins participating in vertical interactions between membrane skeleton and lipid bi-layer. Prenatal diagnosis for at-risk pregnancies is possible if disease-causing mutations have been identified in a family, but it is not routinely performed due to the usually mild disease course.

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Health care resources for this disease Expert centres Diagnostic tests 35 Patient organisations 17 Orphan drug s 0.

Folate supplement is recommended particularly after infectious events. Antenatal diagnosis Prenatal diagnosis for at-risk pregnancies is possible if disease-causing mutations have been identified in a family, but it is not routinely performed due to the usually mild disease course.

Applying criteria such as permanence of an increased percentage of spherocytes, family history, biochemical symptoms of hemolysis and clinical data, we claim a prevalence of generally asymptomatic hereditary spherocytosis HS of 1: Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum from symptom-free carriers to severe hemolysis characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.

Autosomal recessive inheritance and de novo mutations have also been reported, but are less common. Nine issues are published each year, including mostly originals, reviews and consensus documents. HS is a very heterogeneous disease caused by an intrinsic defect of red cells; there are other secondary disorders to this affection.

Diagnostic methods Diagnosis is based on clinical and family history, physical examination and laboratory test results. Management and treatment Treatment involves management of jaundice phototherapy and even exchange blood transfusion to prevent hyperbilirubinemic encephalopathy and RBC transfusions in case of severe, symptomatic anemia.

Etiology HS is caused by mutations in one of the following genes: