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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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.
Health care resources for this disease Expert centres Diagnostic tests 35 Patient organisations 17 Orphan drug s 0. Autosomal recessive inheritance and de novo mutations have also been reported, but are less common. HS is caused by mutations in one of the following genes: Molecular genetic testing is not routinely used to confirm diagnosis.
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. 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.
Splenectomy for hereditary spherocytosis: Age of onset and severity vary considerably depending on the degree of anemia and hemolysis. Pre and post-splenectomy vaccine prophylaxis and prophylactic antibiotics are recommended in order to prevent infections.
The Italian survey on hereditary spherocytosis. Diagnostic methods Diagnosis is based on clinical and family history, physical examination and laboratory test results.
Aires, Argentina; 16 2: Diagnosis is based on clinical and family history, physical examination and laboratory test results. Professionals Review article Deutsch English Clinical practice guidelines Deutsch Clinical genetics review English Specialised Social Services Eurordis directory. J Lab Clin Med. The prognosis is variable and depends on the severity of the disease and heresitaria associated complications.
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Thrombo-embolic disease after splenectomy for hereditary stomatocytosis. Splenomegaly is frequently observed.
Oxygen affinity and compensated hemolysis in hereditary spherocytosis. Folate supplement is recommended particularly after infectious events.
Esferocitosis hereditaria by Jazmin Cózar Madero on Prezi
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. Check this box if you wish to receive a copy of your message. 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. Clinico-hematological profile of hereditary spherocytosis: Guidelines for the diagnosis and management of herediyaria spherocytosis update.
A study of 62 Spanish cases. Rare complications include poor growth, skin ulceration, chronic dermatitis, high output heart failure, and secondary iron overload.
J Thromb Thrombolysis ;17 3: Br J Haematol ;93 2: Revista Cubana Hematol Inmunol Hemoter ;18 1: Hereditary spherocytosis, thrombocytosis, and chronic pulmonary emboli: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For intermediate categories the indication is less clear, being useful in moderate cases before puberty. Summary and related texts. 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.
Int J Pediatr Hematol Oncol ; 2: Hereditafia J Hematol ;57 1: 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.