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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Blood Cells Mol Dis ; Revista Cubana Hematol Inmunol Hemoter ;18 1: Splenectomy usually results in disappearance of anemia and clear amelioration of hemolytic markers. Age of onset and severity vary considerably herediyaria on the degree of anemia and hemolysis.
Red cell morphology, osmotic resistance, hypertonic hereditria test, eosinmaleimide binding in flow cytometry, sodium dodecyl sulfate-poly acrylamide gel electrophoresis and ektacytometry are all used to diagnose HS. Four HS categories have been identified: Long-term evaluation of the beneficial effect of subtotal splenectomy for management of hereditary spherocytosis.
Int J Pediatr Hematol Oncol ; 2: 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.
Thrombo-embolic disease after splenectomy for hereditary stomatocytosis. Hereditary Spherocytosis in Neonates with Hyperbilirubinemia. Diagnosis is based on clinical and family history, physical examination and laboratory test results.
Orphanet: Esferocitosis hereditaria
Oxygen affinity and compensated hemolysis in hereditary spherocytosis. 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.
Aires, Argentina; 16 2: A combined splenectomy and cholecystectomy may be beneficial in patients with gallstones. 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. Br J Haematol ;93 2: Autosomal recessive inheritance and de novo mutations have also been reported, but are less common. Journal of Medical Cases.
Professionals Review article Deutsch English Clinical practice guidelines Deutsch Clinical genetics review English J Thromb Thrombolysis ;17 3: Specialised Social Services Eurordis directory. Diagnostic methods Diagnosis is based on clinical and family history, physical examination and laboratory test results. Splenectomy for hereditary spherocytosis: The Italian survey on hereditary spherocytosis.
Hereditary spherocytosis, thrombocytosis, and chronic pulmonary emboli: Referencias -Mayelin Herrera Garcia. Servicio de ayuda de la revista. Prognosis The prognosis is variable and depends on the severity of the disease and any associated complications. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted.
Rare complications include poor growth, skin ulceration, chronic dermatitis, high output heart failure, and secondary iron overload. Summary and related texts.
Etiology HS is caused by mutations in one of the following genes: Only comments written in English can be processed. Splenomegaly is frequently observed.
The documents contained in this web site are presented for information hreeditaria only. Clinico-hematological profile of hereditary spherocytosis: 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. 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.
Pre and post-splenectomy vaccine prophylaxis and prophylactic antibiotics are recommended in order to prevent infections. HS is caused by mutations in one of the following genes: Treatment involves management of jaundice phototherapy and even exchange blood transfusion to prevent hyperbilirubinemic encephalopathy and RBC transfusions in case of severe, symptomatic anemia.
Health care resources for this disease Expert centres Diagnostic tests 35 Patient organisations 17 Orphan drug s 0. For intermediate categories the indication is less clear, being useful in moderate cases before puberty. Postoperative pulmonary embolism in a young female accompanying with Factor V Leiden mutation and hereditary sypherocytosis. Genetic counseling is recommended in families with a history of HS. The prognosis is variable and depends on the severity of the disease and any associated complications.
Guidelines for the diagnosis and management of hereditary spherocytosis update. A study of 62 Spanish cases.
Laparoscopic splenectomy is preferred if performed by annemia surgeons. Other search option s Alphabetical list. Serum ferritin levels should be checked annually.
Check this box if you wish to receive a copy of your message. Laparoscopic partial vs total splenectomy in children with hereditary spherocytosis. For all other comments, please send your remarks via contact us.
Am J Hematol ;57 1: