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.

Author: Mazulmaran Zoloramar
Country: Hungary
Language: English (Spanish)
Genre: Literature
Published (Last): 3 September 2010
Pages: 214
PDF File Size: 1.87 Mb
ePub File Size: 1.35 Mb
ISBN: 689-3-97586-692-9
Downloads: 20670
Price: Free* [*Free Regsitration Required]
Uploader: Brakree

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.

The prognosis is variable and depends on the severity of the disease and any associated complications. Diagnostic methods Diagnosis is esferociotsis on clinical and family history, physical examination and laboratory test results.

Esferocitosis hereditaria by Jazmin Cózar Madero on Prezi

Thrombo-embolic disease after splenectomy for hereditary stomatocytosis. Only comments written in English can be processed. J Thromb Thrombolysis ;17 3: 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.

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. J Lab Clin Med. HS is caused by mutations in one of the following genes: For all other comments, please send your remarks via contact us.


Br J Haematol ;93 2: Clinico-hematological profile of hereditary spherocytosis: Laparoscopic splenectomy is preferred if performed by experienced surgeons.

There was a problem providing the content you requested

Autosomal recessive inheritance and de novo mutations have also been reported, but are less common. Check this box if you wish to receive a copy of your message. Int J Pediatr Hematol Oncol ; 2: 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. Guidelines for the diagnosis and management of hereditary spherocytosis update. The Italian survey on hereditary spherocytosis.

Treatment involves management of jaundice phototherapy and even exchange blood transfusion to prevent hyperbilirubinemic encephalopathy and RBC transfusions in case of severe, symptomatic anemia.

Anemia Esferocitosis Hereditaria by Danna flores cuadros on Prezi

Red cell morphology, osmotic resistance, hypertonic cryohemolysis test, eosinmaleimide binding in flow cytometry, sodium dodecyl sulfate-poly acrylamide gel electrophoresis and ektacytometry are all used to diagnose HS. Blood Cells Mol Dis ; Prognosis The prognosis is variable and depends on the severity of the disease and any associated complications. Am J Hematol ;57 1: Postoperative pulmonary embolism in a young female accompanying with Factor V Leiden mutation and hereditary sypherocytosis.


Hereditary spherocytosis, thrombocytosis, and chronic pulmonary emboli: The documents contained in this web site are presented for information purposes only. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted.

Splenectomy for hereditary spherocytosis: Long-term evaluation of the beneficial effect of subtotal splenectomy for management of hereditary spherocytosis. Genetic counseling is recommended hereditarua families with a history of HS.

Aires, Argentina; 16 2: Health care resources for this disease Expert centres Diagnostic tests 35 Patient organisations 17 Orphan drug s 0. Revista Cubana Hematol Inmunol Hemoter ;18 1: Specialised Social Services Eurordis directory.

Erythroid membrane protein defects in hereditary spherocytosis. Four HS categories have been identified: Folate supplement is recommended particularly after infectious events.

Servicio de ayuda de la revista. Summary and related texts. 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.

Oxygen affinity and compensated hemolysis in hereditary spherocytosis.