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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A combined splenectomy and cholecystectomy may be beneficial in patients with gallstones. Check this box if you wish to receive a copy of your message. Rare complications include poor growth, skin ulceration, chronic dermatitis, high output heart failure, and secondary iron overload. Clinico-hematological profile of hereditary spherocytosis: The prognosis is variable and depends on the severity of the disease and any associated complications.
Red cell morphology, osmotic resistance, hypertonic cryohemolysis test, eosinmaleimide binding in flow cytometry, sodium dodecyl sulfate-poly acrylamide gel electrophoresis and ektacytometry are all used to diagnose HS. 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. Journal of Medical Cases.
Splenectomy usually results in disappearance of anemia and clear amelioration of hemolytic markers. Blood Cells Mol Dis ; Hereditary Spherocytosis in Neonates with Hyperbilirubinemia. HS is caused by mutations in one of the following genes: Age of onset and severity vary considerably depending on the degree of anemia and hemolysis.
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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. Treatment involves management of jaundice phototherapy and even exchange aemia transfusion to prevent hyperbilirubinemic encephalopathy and RBC transfusions in case of severe, symptomatic anemia. 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.
Splenomegaly is frequently observed. Folate supplement is recommended particularly after infectious events. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Oxygen affinity and compensated hemolysis in hereditary spherocytosis. Management and treatment Treatment involves management of jaundice phototherapy and even exchange blood transfusion to prevent hyperbilirubinemic encephalopathy and RBC transfusions in case of severe, symptomatic anemia.
Anemia Esferocitosis Hereditaria by Danna flores cuadros on Prezi
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For all other comments, please send your remarks via contact us. The Italian survey on hereditary spherocytosis. Servicio de ayuda de la revista. Molecular genetic testing is esferocitosia routinely used to confirm diagnosis. Int J Pediatr Hematol Oncol ; 2: 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.
Postoperative pulmonary embolism in a young female accompanying with Factor V Leiden mutation and hereditary sypherocytosis. Thrombo-embolic disease after splenectomy for hereditary stomatocytosis.
Long-term evaluation of the beneficial effect of subtotal splenectomy for management of hereditary spherocytosis. Differential diagnosis Differential diagnoses ewferocitosis hereditary elliptocytosis, hereditary stomatocytosis, Southeast Asian ovalocytosis, glucosephosphate dehydrogenase deficiency, pyruvate kinase deficiency, autoimmune hemolytic anemia, and alpha-thalassemia see these terms.
J Thromb Thrombolysis ;17 3: Am J Hematol ;57 1: Referencias -Mayelin Herrera Garcia. Diagnostic methods Diagnosis is based on clinical and family history, physical examination and laboratory test results.
Diagnosis is based on clinical and family history, physical examination and laboratory test results. 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. Aires, Argentina; 16 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.
Autosomal recessive inheritance and de novo mutations have also been reported, but are less common.
Orphanet: Esferocitosis hereditaria
Professionals Review article Deutsch English Clinical practice guidelines Deutsch Clinical genetics review English Serum ferritin levels should be checked annually. Splenectomy for hereditary spherocytosis: 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.
J Lab Clin Med. Four HS categories have been identified: Other search option s Alphabetical list. Revista Cubana Hematol Inmunol Hemoter ;18 1: A study of 62 Spanish cases. Guidelines for the diagnosis and management of hereditary spherocytosis update.
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