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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Only comments written in English can be processed. HS is caused by mutations in one of the following genes: 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. Health care resources for this disease Expert centres Diagnostic tests 35 Patient organisations 17 Orphan drug s 0.
Br J Haematol ;93 2: 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.
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Hereditary Spherocytosis in Neonates with Hyperbilirubinemia. 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.
Am J Hematol ;57 1: Other search option s Alphabetical list. Thrombo-embolic disease after splenectomy for hereditary stomatocytosis.
J Thromb Thrombolysis ;17 3: Professionals Review article Deutsch English Clinical practice guidelines Deutsch Clinical genetics review English Splenectomy for hereditary spherocytosis: Revista Cubana Hematol Inmunol Hemoter ;18 1: Etiology HS is caused by mutations in one of the following genes: 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.
Referencias -Mayelin Herrera Garcia. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Splenectomy usually results in disappearance of anemia hereditaeia clear amelioration of hemolytic markers.
Serum esferrocitosis levels should be checked annually.
Four HS categories have been identified: Prenatal diagnosis for at-risk pregnancies is possible if hereditaira mutations have been identified in a family, but it is not routinely performed due to the usually mild disease course. Splenomegaly is frequently observed.
Esferocitosis hereditaria by Jazmin Cózar Madero on Prezi
For intermediate categories the indication is less clear, being useful in moderate cases before puberty. Servicio de ayuda de la revista.
Clinico-hematological profile of hereditary spherocytosis: 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. A study of 62 Spanish cases.
Laparoscopic splenectomy is preferred if performed by experienced surgeons. Int J Pediatr Hematol Oncol ; 2: Summary and related texts. Laparoscopic essferocitosis vs total splenectomy in children with hereditary spherocytosis. The Italian survey hereditatia hereditary spherocytosis. Journal of Medical Cases. The documents contained in this web site are presented for information purposes only.
Guidelines for the diagnosis and management of hereditary spherocytosis update. Autosomal recessive inheritance and de novo mutations have also been reported, but are less common. J Lab Clin Med. The prognosis is variable and depends on the severity of the disease and any associated complications. For esterocitosis other comments, please send your remarks via contact us. Folate supplement is recommended particularly after infectious events.
Hereditary spherocytosis, thrombocytosis, and chronic pulmonary emboli: Oxygen affinity and compensated hemolysis in hereditary spherocytosis.