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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Orphanet: Esferocitosis hereditaria
Revista Cubana Hematol Inmunol Hemoter ;18 1: Am J Hematol ;57 1: Splenectomy usually results in disappearance of anemia and clear amelioration of hemolytic markers. Specialised Social Services Eurordis directory. Pre and post-splenectomy vaccine prophylaxis and prophylactic antibiotics are recommended in order to prevent herediaria. Thrombo-embolic disease after splenectomy for hereditary stomatocytosis.
Splenectomy for hereditary spherocytosis: The documents contained in this web site are presented for information purposes only. Age of onset and severity vary considerably depending on the degree of anemia and hemolysis. For intermediate categories the indication is less clear, being useful in moderate cases before puberty. Professionals Review article Deutsch English Clinical practice guidelines Deutsch Clinical genetics review Esterocitosis Laparoscopic splenectomy is preferred if performed by experienced surgeons.
Genetic counseling is recommended in families with a history of HS. A study of 62 Spanish cases. Only comments written in English can be processed. Splenomegaly is frequently observed.
Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. 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.
Rare complications include poor growth, skin ulceration, chronic dermatitis, high output heart failure, and secondary iron overload. Autosomal recessive inheritance and de novo mutations have also been reported, but are less common.
Molecular genetic testing is not routinely used to confirm diagnosis. J Lab Clin Med. Summary and related texts. Postoperative pulmonary embolism in a young female accompanying with Factor V Leiden mutation and hereditary sypherocytosis. The Italian survey on hereditary spherocytosis. Diagnostic methods Diagnosis is based on clinical and family esferocirosis, physical examination and laboratory test results.
Etiology HS is caused by mutations in one of the following genes: 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. Health care resources for this disease Expert centres Diagnostic tests 35 Patient organisations esfegocitosis Orphan drug s 0.
It is not indicated in patients with HS trait, whereas it is usually necessary in severe cases, ane,ia delayed if possible until the age of 6 years. Erythroid membrane protein defects in hereditary spherocytosis.
Hereditary spherocytosis, thrombocytosis, and chronic pulmonary emboli: Journal of Medical Qnemia. 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. Treatment involves management of jaundice phototherapy and even exchange blood transfusion to prevent hyperbilirubinemic encephalopathy and RBC transfusions in case of severe, symptomatic anemia.
Four HS categories have been identified: Servicio de ayuda de la revista. 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.
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The material is in no way intended to esferocifosis professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. Clinico-hematological profile of hereditary spherocytosis: Br J Haematol ;93 2: Prognosis The prognosis is variable and depends on the severity of the disease and any associated complications.
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Blood Cells Mol Dis ; Long-term evaluation of the beneficial effect of subtotal splenectomy for management of hereditary spherocytosis.