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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Int J Pediatr Hematol Oncol ; 2: Erythroid membrane protein defects in hereditary spherocytosis. Serum ferritin levels should be checked annually.
Esferocitosis hereditaria by Jazmin Cózar Madero on Prezi
Splenomegaly is frequently observed. Am J Hematol ;57 1: Revista Cubana Hematol Inmunol Hemoter ;18 1: Splenectomy for hereditary spherocytosis: It is not indicated in patients with HS trait, whereas it is usually necessary in severe cases, albeit delayed if possible until the anema of 6 years.
The prognosis is variable and depends on the severity of the disease and any associated complications. Hereditary spherocytosis, thrombocytosis, and chronic pulmonary emboli: Molecular genetic testing is not routinely used to confirm diagnosis.
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Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. 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.
Rare complications include poor growth, skin ulceration, chronic dermatitis, high output heart failure, and secondary iron overload. For intermediate categories the indication is less clear, being useful in moderate herrditaria before puberty.
Referencias -Mayelin Herrera Garcia. Oxygen affinity and compensated hemolysis in hereditary spherocytosis. A study of 62 Spanish cases. Prognosis The prognosis is variable and depends on the severity of the disease and any associated complications.
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.
Laparoscopic partial vs total splenectomy in children with hereditary spherocytosis. J Lab Clin Med.
Orphanet: Esferocitosis hereditaria
King on behalf of the General Haematology Task Force of the British Committee for Standards in Haematology Guidelines for the diagnosis and management of eeferocitosis spherocytosis. The Italian survey on hereditary spherocytosis. For all other comments, please send your remarks via contact us.
Check this box if you wish to receive a copy of your message. 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. 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.
Aires, Argentina; 16 2: Hereditary Spherocytosis in Neonates with Hyperbilirubinemia. Servicio de ayuda de la revista. Professionals Review article Deutsch English Clinical practice guidelines Deutsch Clinical genetics review English Etiology HS is caused by mutations in one of the following genes: Diagnostic methods Diagnosis is based on clinical and family history, physical examination and laboratory test results.
Guidelines for the diagnosis and management of hereditary spherocytosis update.