Revisión de los niños diagnosticados de esferocitosis hereditaria (EH) antes de los 2 Se objetivó anemia en el % de los pacientes e ictericia en el 44%. Download Citation on ResearchGate | Esferocitosis hereditaria: Aspectos clínicos , characterized by hemolytic anemia of variable severity, with spherocytes in. Esferocitosis Hereditaria Anemia Esferocitosis Hereditaria 1) Defecto de la membrana del eritrocito. 2) Retención selectiva por el bazo normal.

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Am J Hematol ;57 1: Specialised Social Services Eurordis directory. Hereditary esferocktosis 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.

Esfericitosis supplement is recommended particularly after infectious events. It is not indicated in patients with HS trait, whereas it is usually necessary in severe cases, albeit delayed if possible until the age of 6 years.

For all other comments, please send your remarks via contact us. Autosomal recessive inheritance and de novo mutations have also been reported, but are less common.

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. J Hereditsria Clin Med. Hereditary Spherocytosis in Neonates with Hyperbilirubinemia.

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Int J Pediatr Hematol Oncol ; 2: Thrombo-embolic disease after splenectomy for hereditary stomatocytosis. Professionals Review article Deutsch English Clinical practice guidelines Deutsch Clinical genetics review English Erythroid membrane protein defects in hereditary spherocytosis. Other search option s Alphabetical list. 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.

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. For intermediate categories the indication is less clear, being useful in moderate cases before puberty. Clinico-hematological profile of hereditary spherocytosis: Treatment involves management of jaundice phototherapy and even exchange blood transfusion to prevent hyperbilirubinemic encephalopathy and RBC transfusions in case of severe, symptomatic anemia.

Esferocitosis hereditaria by Jazmin Cózar Madero on Prezi

Only comments written in English can be processed. Antenatal diagnosis Prenatal diagnosis for at-risk pregnancies is possible if disease-causing mutations have been identified in a heredditaria, but it is not routinely performed due to the usually mild disease course.

Molecular genetic testing is not routinely used to confirm diagnosis. Postoperative pulmonary embolism in a young female accompanying with Factor V Leiden mutation and hereditary sypherocytosis. The Italian survey on hereditary spherocytosis.

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Aires, Argentina; 16 2: Red cell morphology, osmotic resistance, hypertonic cryohemolysis test, eosinmaleimide binding in flow cytometry, sodium dodecyl sulfate-poly acrylamide gel electrophoresis and ektacytometry are all used to diagnose HS. Servicio de ayuda de la revista. Laparoscopic splenectomy is preferred if performed by experienced surgeons.

Anemia Esferocitosis Hereditaria by Danna flores cuadros on Prezi

J Thromb Thrombolysis ;17 3: Rare complications include poor growth, skin ulceration, chronic dermatitis, high output heart failure, and secondary iron overload. Revista Cubana Hematol Inmunol Hemoter ;18 1: Four HS categories have been identified: Br J Haematol ;93 2: Splenectomy usually results in disappearance of anemia and clear amelioration of hemolytic markers. Defects in these proteins lead to a loss in RBC membrane cohesion and membrane surface area, resulting in erythrocyte sphering, decreased deformability and premature destruction in the spleen.

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