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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Hereditary spherocytosis, thrombocytosis, and chronic pulmonary emboli: Serum ferritin levels should be checked annually. J Lab Clin Med.
Professionals Review article Deutsch English Clinical practice guidelines Deutsch Clinical genetics review English Diagnosis is based on clinical and family history, physical examination and laboratory test results.
J Thromb Thrombolysis ;17 3: Herwditaria recessive inheritance and de novo mutations have also been reported, but are less common. Other search option s Alphabetical list. Pre and post-splenectomy vaccine prophylaxis and prophylactic antibiotics are recommended in order to prevent infections. Four HS wnemia have been identified: Blood Cells Mol Dis ; Am J Hematol ;57 1: Etiology HS is caused by mutations in one of the following genes: Summary and related texts.
Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Int J Pediatr Hematol Oncol ; 2: 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.
Clinico-hematological profile of hereditary spherocytosis: 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.
Diagnostic methods Diagnosis is based on clinical and family history, physical examination and laboratory test results. A herediaria splenectomy and cholecystectomy may be beneficial in patients with gallstones. Servicio de ayuda de la revista.
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. Postoperative pulmonary embolism in a young female accompanying with Ehreditaria V Leiden mutation and hereditary sypherocytosis. Only comments written in English can be processed. Andmia partial vs total splenectomy in children with hereditary spherocytosis.
Check this box if you wish to receive a copy of your message. Molecular genetic testing is not routinely used to confirm diagnosis.
King on behalf of the General Haematology Task Force of the British Committee for Standards in Haematology Guidelines for the diagnosis and management of hereditary spherocytosis. Long-term evaluation of the beneficial effect of subtotal splenectomy for management of hereditary spherocytosis.
Age esffrocitosis onset and severity vary considerably depending on the degree of anemia and hemolysis.
Journal of Medical Cases. Laparoscopic splenectomy is preferred if performed by experienced surgeons.
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Hereditary Spherocytosis in Neonates with Hyperbilirubinemia. Thrombo-embolic disease after splenectomy for hereditary stomatocytosis. 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.
Oxygen affinity and compensated hemolysis in hereditary spherocytosis.
Orphanet: Esferocitosis hereditaria
Aires, Argentina; 16 2: The documents contained in this web site are presented for information purposes only. A esferocitoeis of 62 Spanish cases. Genetic counseling is recommended in families with a history of HS. Referencias -Mayelin Herrera Garcia. For all other comments, please send your remarks via contact us. Prognosis The prognosis is variable and depends on the severity of the disease ssferocitosis any associated complications.
Guidelines for the diagnosis and management of hereditary spherocytosis update. Splenectomy usually results in disappearance of anemia and clear amelioration of hemolytic markers. 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.
Splenomegaly is frequently observed. 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. Revista Cubana Hematol Inmunol Hemoter ;18 1: Erythroid membrane protein defects in hereditary spherocytosis.
HS is caused by abemia in one of the following genes: Splenectomy for hereditary spherocytosis: Folate supplement is recommended particularly after infectious events. Br J Haematol ;93 2: The prognosis is variable and depends on the severity of the disease and esferocitossi associated complications.