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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Other search option s Alphabetical list. Molecular genetic testing is not routinely used to confirm diagnosis. 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. HS is caused by mutations in one esferocitosus the following genes: 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.
Blood Cells Mol Dis ; Int J Pediatr Hematol Oncol ; 2: Etiology HS is caused by mutations in one of the following genes: Specialised Social Services Eurordis directory. The Italian survey on hereditary spherocytosis. A combined splenectomy and cholecystectomy may be beneficial in patients with gallstones. Professionals Review article Deutsch English Clinical practice guidelines Deutsch Clinical genetics review English 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.
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. Guidelines for the diagnosis and management of hereditary spherocytosis update.
Erythroid membrane protein defects in hereditary spherocytosis.
Esferocitosis hereditaria by Jazmin Cózar Madero on Prezi
Referencias -Mayelin Herrera Garcia. Laparoscopic splenectomy is preferred if performed by experienced surgeons. Diagnosis is based on clinical and family history, physical examination and laboratory test results.
Folate supplement is recommended particularly after infectious events. Long-term evaluation of the beneficial effect of subtotal splenectomy for management of hereditary spherocytosis. For all other comments, ewferocitosis send your remarks via contact us. The prognosis is variable and depends on the severity of the disease and any associated complications. Serum ferritin levels should be checked annually.
Rare complications include poor growth, skin ulceration, chronic dermatitis, high output heart failure, and secondary iron overload.
Orphanet: Esferocitosis hereditaria
The documents contained in this web site are presented for esffrocitosis purposes only. Pre and post-splenectomy vaccine prophylaxis and prophylactic antibiotics are recommended in order to prevent infections. Journal of Medical Cases. 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.
Hereditary Spherocytosis in Neonates with Hyperbilirubinemia. Treatment involves management of jaundice phototherapy and even exchange blood transfusion to prevent hyperbilirubinemic encephalopathy and RBC transfusions in case of severe, symptomatic anemia.
Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Antenatal diagnosis Prenatal diagnosis for at-risk pregnancies is possible if disease-causing mutations have been identified in a family, but it esferovitosis not routinely performed due to the usually mild disease course.
Servicio de ayuda de la revista. Check this box if you wish to receive a copy of your message. 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.
For intermediate categories the indication is less clear, being useful in moderate cases before puberty. Clinico-hematological profile of hereditary spherocytosis: Laparoscopic partial vs total splenectomy in children with hereditary spherocytosis. Splenomegaly is frequently observed.
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Splenectomy usually results esferkcitosis disappearance of anemia and clear amelioration of hemolytic markers. Br J Haematol ;93 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.
Age of onset and severity vary considerably depending on the degree of anemia and hemolysis. Splenectomy for hereditary spherocytosis: