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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Folate supplement is recommended particularly after infectious events. 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. 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.
Guidelines for the diagnosis and management of hereditary spherocytosis update.
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Prognosis The prognosis is variable and depends on the severity of the disease and any associated complications. Rare complications include esferoitosis growth, skin ulceration, chronic dermatitis, high output heart failure, and secondary iron overload. Age of onset and severity vary considerably depending on the degree of anemia and hemolysis. Autosomal recessive inheritance and de novo mutations have also been reported, but are less common. Prenatal diagnosis for at-risk pregnancies is possible if disease-causing mutations have been identified in a family, but it is not esferociosis performed due to the usually mild disease course.
Serum ferritin levels should be checked annually. Hereditary spherocytosis, thrombocytosis, and chronic pulmonary emboli: 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.
Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. 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.
Oxygen affinity and compensated hemolysis in hereditary spherocytosis. 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.
Postoperative pulmonary embolism in a young female accompanying with Factor V Leiden mutation and hereditary sypherocytosis. It is not indicated esferoctosis patients with HS trait, whereas it is usually necessary in severe cases, albeit delayed if possible until the age of 6 years.
Specialised Social Services Eurordis directory. Summary and related texts.
Esferocitosis hereditaria by Jazmin Cózar Madero on Prezi
Health care resources for this disease Expert centres Diagnostic tests 35 Patient organisations 17 Orphan drug s 0. Journal of Medical Cases. J Thromb Thrombolysis ;17 3: Other search option s Alphabetical list.
Four HS categories have been identified: Diagnosis is based on clinical and family history, physical examination and laboratory test results.
Splenectomy usually results in disappearance of anemia and clear amelioration of hemolytic markers. esferocitosid
Anemia Esferocitosis Hereditaria by Danna flores cuadros on Prezi
A study of 62 Spanish cases. Differential 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. Int J Pediatr Hematol Oncol ; 2: Laparoscopic partial vs total splenectomy in children with hereditary spherocytosis. Erythroid membrane protein defects in hereditary spherocytosis.
J Lab Clin Med.
The Italian survey on hereditary spherocytosis.