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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Prognosis The prognosis is variable and depends on the severity of the disease and any associated complications. Splenomegaly is frequently observed. Hereditary Spherocytosis in Neonates with Hyperbilirubinemia.
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.
Folate supplement is recommended particularly after infectious events. Serum ferritin levels should be checked annually. Int J Pediatr Hematol Oncol ; 2: Pre and post-splenectomy vaccine prophylaxis and prophylactic antibiotics are recommended in order to prevent infections. 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.
Hereditary spherocytosis, thrombocytosis, and chronic pulmonary emboli: Rare complications esferocitosos poor growth, skin ulceration, chronic dermatitis, high output heart failure, and secondary iron overload. Oxygen affinity and compensated hemolysis in hereditary spherocytosis. Differential diagnosis Differential diagnoses include hereditary elliptocytosis, hereditary stomatocytosis, Southeast Asian ovalocytosis, glucosephosphate esfferocitosis deficiency, pyruvate kinase deficiency, autoimmune hemolytic anemia, and alpha-thalassemia see these terms.
Etiology HS is caused by mutations in one of the following genes: Diagnosis is based on clinical and family history, physical examination and laboratory test results.
J Lab Clin Med. Professionals Review article Deutsch English Clinical practice guidelines Deutsch Clinical genetics review English Thrombo-embolic disease after splenectomy for hereditary stomatocytosis.
Referencias -Mayelin Herrera Garcia. Molecular genetic testing is not routinely used to confirm diagnosis.
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Anemia Esferocitosis Hereditaria by Danna flores cuadros on Prezi
A combined splenectomy and cholecystectomy may be beneficial in patients with gallstones. 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. Guidelines for the diagnosis and management of hereditary heereditaria update. Summary and related texts. Health care resources for this disease Expert centres Diagnostic tests 35 Patient organisations 17 Orphan drug s 0.
Splenectomy for hereditary spherocytosis: Splenectomy usually results in disappearance of anemia and clear amelioration of hemolytic markers. Laparoscopic splenectomy is preferred if performed by experienced surgeons. Servicio de ayuda de la revista.
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Long-term evaluation of the beneficial effect of subtotal splenectomy for management of hereditary spherocytosis. HS is caused by mutations in one of the following genes: King on behalf of the General Haematology Task Force abemia the British Committee for Standards in Haematology Guidelines for the diagnosis and management of hereditary spherocytosis.
Erythroid membrane protein defects in hereditary spherocytosis. Four HS categories have been identified: The prognosis is variable and depends on the severity of the disease and any associated complications. Only comments written in English can be processed. Laparoscopic partial vs total splenectomy in children with hereditary spherocytosis.
The documents contained in this web site are presented for information esfdrocitosis only. Age of onset and severity vary considerably depending on the degree of anemia and hemolysis. Revista Cubana Hematol Inmunol Hemoter ;18 1: Check this box if you wish to receive a copy of your message. For all other comments, please send your remarks via contact us. Journal of Medical Cases.
Specialised Social Services Eurordis directory. J Thromb Thrombolysis ;17 3: Clinico-hematological profile of hereditary spherocytosis: Genetic counseling is recommended in families with a history of HS.
Orphanet: Esferocitosis hereditaria
anwmia 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. A study of 62 Spanish cases.
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.