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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Defects in these proteins lead to a loss in RBC membrane cohesion and membrane surface area, resulting esferocktosis erythrocyte sphering, decreased deformability and premature destruction in the spleen. Autosomal recessive inheritance and de novo mutations have also been reported, but are less common. Postoperative pulmonary embolism in a young female accompanying with Factor V Leiden mutation and hereditary sypherocytosis.

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Am J Hematol ;57 1: Long-term evaluation of the beneficial effect of subtotal splenectomy for management of hereditary spherocytosis. Specialised Social Services Eurordis directory. Laparoscopic splenectomy is preferred if performed by experienced surgeons. Guidelines for the diagnosis and management of hereditary spherocytosis update.

Int J Pediatr Hematol Oncol ; 2: Diagnostic methods 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 Revista Cubana Hematol Inmunol Hemoter ;18 1: 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.

Genetic counseling is recommended in families with a history of HS. Antenatal diagnosis 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 in Neonates with Hyperbilirubinemia.

Aires, Argentina; 16 2: Only comments seeking to improve the quality and accuracy of esferocitoosis on the Orphanet website are accepted. The Italian survey on hereditary spherocytosis. Molecular genetic testing is not routinely used to confirm diagnosis.

Anemia Esferocitosis Hereditaria by Danna flores cuadros on Prezi

Splenectomy for hereditary spherocytosis: Laparoscopic partial vs total splenectomy in children with hereditary spherocytosis. J Lab Clin Med. Age of onset and severity vary considerably depending on the degree of anemia and hemolysis.

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.

Check this box if you wish to receive a copy of your message. Referencias -Mayelin Herrera Garcia. 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. Prognosis The prognosis is variable and depends on the severity of the disease and any associated complications.

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.

Thrombo-embolic disease after splenectomy for hereditary stomatocytosis.

Esferocitosis hereditaria by Jazmin Cózar Madero on Prezi

The documents contained in this web site are presented for information purposes only. Differential diagnosis Differential diagnoses include hereditary elliptocytosis, hereditary stomatocytosis, Southeast Asian ovalocytosis, glucosephosphate dehydrogenase deficiency, pyruvate esferocktosis deficiency, autoimmune hemolytic anemia, and alpha-thalassemia see these terms.

For all other comments, please send your remarks via contact us. Four HS categories have been identified: HS is caused by mutations in one of the following genes: Blood Cells Mol Dis ; Folate supplement is recommended particularly after infectious events.