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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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.
Management and treatment Treatment involves management of jaundice phototherapy and even exchange blood transfusion to prevent hyperbilirubinemic encephalopathy and RBC transfusions in case esferofitosis severe, symptomatic anemia.
Servicio de ayuda de la revista. Erythroid membrane protein esferocitpsis in hereditary spherocytosis. Molecular genetic testing is not routinely used to confirm diagnosis. Professionals Review article Deutsch English Clinical practice guidelines Deutsch Clinical genetics review English Clinico-hematological profile of hereditary spherocytosis: Prognosis The prognosis is variable and depends on the severity of the disease and any associated complications.
Int J Pediatr Hematol Oncol ; 2: The documents contained in this web site are presented for information purposes only.
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The prognosis is variable and depends on the severity of the disease and any associated complications. Splenomegaly is frequently observed. Specialised Social Services Eurordis directory. 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.
For all other comments, please send your remarks via contact us. Br J Haematol ;93 2: Laparoscopic splenectomy is preferred if performed by experienced surgeons.
Diagnostic methods Diagnosis is based on clinical and family history, physical examination and laboratory test results. Summary and related esferocitoss. Other search option s Alphabetical list.
Check this box if you wish to receive a copy of your message. Etiology HS is esferoctiosis by mutations in one of the following genes: Am J Hematol ;57 1: Thrombo-embolic disease after splenectomy for uereditaria stomatocytosis. Postoperative pulmonary embolism in a young female accompanying with Factor V Leiden mutation and hereditary sypherocytosis. Hereditary spherocytosis, thrombocytosis, and esferocitpsis pulmonary emboli: Long-term evaluation of the beneficial effect of subtotal splenectomy for management of hereditary spherocytosis.
Age of onset and severity vary considerably depending on the degree of anemia and hemolysis. Four HS categories have been identified: HS is caused by mutations in one of the following genes: 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.
Anemia Esferocitosis Hereditaria by Danna flores cuadros on Prezi
Rare complications include poor growth, skin ulceration, chronic dermatitis, hereditaris output heart failure, and secondary iron overload.
A study of 62 Spanish cases. 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. Folate supplement is recommended particularly after infectious events.
Journal of Medical Cases. Hegeditaria 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. Splenectomy for hereditary spherocytosis: J Thromb Thrombolysis ;17 3: Hereditary Spherocytosis in Neonates with Hyperbilirubinemia.
Aires, Argentina; 16 2: