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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This procedure is recommended for patients with severe hemolytic anemia and moderately asymptomatic individuals who have vesicular lithiasis. 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. 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 esffrocitosis the usually mild disease course.

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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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. Polish Academjy of Sciences? Splenectomy usually esferocitoeis in disappearance of anemia and clear amelioration of hemolytic markers.

Laparoscopic splenectomy is preferred if performed by experienced surgeons. Diagnostic methods Diagnosis is based on clinical and family history, physical examination and laboratory test results. 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.


Differential diagnosis 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.

Orphanet: Esferocitosis hereditaria

Check this box if you wish to receive a copy of your message. Autosomal recessive inheritance and de novo mutations have also been reported, but are less common. HS being a hemolytic defect, frequently increased iron overload was not unexpected. Rev Cubana Hematol Inmunol Hemoter [online]. Serum ferritin levels should be checked annually. A combined splenectomy and cholecystectomy may be beneficial in patients with gallstones.

Genetic counseling is recommended in families with a history of HS. HS is caused by mutations in one of the following genes: The treatment of choice in HS is splenectomy, since this is the most effective method in the control of anemia, although red cell survival is still short and spherocytes do not disappear.

Esferocitosis hereditaria: aspectos clínicos, bioquímicos y moleculares

Bienvenido a siicsalud Contacto Inquietudes. Subscriber If you already have your login eferocitosis, please click here. August – September Pages ee78 Pages esferocitois 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. The most used test for diagnosing HS is the osmotic fragility of the red cell. 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: The high association of Esferocitoxis with both diabetes and iron overload suggest damage of the endocrine pancreas by the latter, as it is also seen in genetic hemochromatosis.

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Are you a health professional able to prescribe or dispense drugs? Folate supplement is recommended particularly after infectious events. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.

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Abstract Hematological automates using double beam laser diffraction by artificially spherized red blood cells determine both volume and hemoglobin concentration of a very large number of cells, even indicating percentages of aberrant elements.

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Hereditary spherocytosis HS is a disease characterized by hemolytic anemia of variable severity, with spherocytes in peripheral blood and a clinical response to splenectomy.

Age of onset and severity vary considerably depending on the degree of anemia and hemolysis. Health care resources for this disease Expert centres Diagnostic tests 35 Patient organisations 17 Orphan drug s 0.