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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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Anemia Esferocitosis Hereditaria by Danna flores cuadros on Prezi

Int J Pediatr Hematol Oncol ; 2: Health care resources for this disease Expert centres Diagnostic tests 35 Patient organisations 17 Orphan drug s 0.

Diagnostic methods Diagnosis is based on clinical and family history, physical examination and laboratory test results. Hereditary Spherocytosis in Neonates with Hyperbilirubinemia. A combined splenectomy and cholecystectomy may be beneficial herediyaria patients with gallstones. Clinico-hematological profile of hereditary spherocytosis: The material is in no way intended to replace professional medical care by a qualified esferocitosiss and should not be used as a basis for diagnosis or treatment.


Guidelines for the diagnosis and management of hereditary spherocytosis update.

Orphanet: Esferocitosis hereditaria

For all other comments, please send your remarks via contact us. Erythroid membrane protein defects in hereditary spherocytosis.

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. 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. Thrombo-embolic disease after splenectomy for hereditary stomatocytosis.

Aires, Argentina; 16 2: Molecular genetic testing is not routinely used to confirm diagnosis. Oxygen affinity and compensated hemolysis in hereditary spherocytosis. Referencias -Mayelin Herrera Garcia.

Specialised Social Services Eurordis directory. 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.

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Autosomal recessive inheritance and de novo mutations have also been reported, but are less common. Prognosis The prognosis is variable and depends on the severity of the disease and any associated complications.

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. Folate supplement snemia recommended particularly after infectious events. Genetic counseling is recommended in families with a history of HS. Journal of Medical Cases. Four HS categories have been identified: Splenomegaly is frequently observed.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. HS is caused by mutations in one of the following genes: Long-term evaluation of the beneficial effect of subtotal splenectomy for management of hereditary spherocytosis.

Professionals Review article Deutsch English Clinical practice guidelines Deutsch Clinical genetics review English The documents contained in this web site are presented for information purposes only. Serum ferritin levels should be checked annually. Splenectomy usually results in disappearance of anemia and clear amelioration of hemolytic markers.

The Italian survey on hereditary spherocytosis.

Splenectomy for hereditary spherocytosis: