ANEMIA ESFEROCITOSIS HEREDITARIA PDF
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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Clinico-hematological profile of hereditary spherocytosis: For intermediate categories the indication is less clear, being useful in moderate cases before puberty.
Splenectomy for hereditary spherocytosis: Eferocitosis HS categories have been identified: Long-term evaluation of the beneficial effect of subtotal splenectomy for management of hereditary spherocytosis. 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.
HS is caused by mutations in one of the following genes: Summary and related texts.
Esferocitosis hereditaria by Jazmin Cózar Madero on Prezi
A study of 62 Spanish cases. Splenomegaly is frequently observed. 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. Diagnostic methods Diagnosis is based on clinical and family history, physical examination and laboratory test results.
Hereditary Spherocytosis in Neonates with Hyperbilirubinemia. Hereditary spherocytosis, thrombocytosis, and chronic pulmonary emboli: 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.
It is not indicated in patients with HS trait, whereas it is usually necessary in severe cases, albeit delayed if possible until esfsrocitosis age of 6 years. Serum ferritin levels should be checked annually.
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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. Only comments written in English can be processed. 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.
Esferocitodis is based on clinical and family history, physical examination and laboratory test results. Guidelines for the diagnosis and management of hereditary spherocytosis update.
Prognosis The prognosis is variable and depends on the severity of the disease and any associated complications. Etiology HS is caused by mutations in one of the following genes: Health care resources for this disease Expert centres Diagnostic tests 35 Patient organisations 17 Orphan drug s 0. The documents contained in this web site are presented for information purposes only.
Differential diagnoses include hereditary elliptocytosis, hereditary stomatocytosis, Southeast Asian herediaria, glucosephosphate dehydrogenase deficiency, pyruvate kinase deficiency, autoimmune hemolytic anemia, and alpha-thalassemia see these terms. Folate supplement is recommended particularly after infectious events.
Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. The Italian survey on hereditary spherocytosis. Referencias -Mayelin Herrera Garcia. Autosomal recessive inheritance and de novo mutations have also been reported, but esfeerocitosis less common.
Revista Cubana Hematol Inmunol Hemoter ;18 1: Rare complications include poor growth, skin ulceration, chronic dermatitis, high output heart failure, and secondary iron overload.
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.
Other search option s Alphabetical list. Br J Haematol ;93 2: Genetic counseling is recommended in families with a history of HS. 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. Int J Pediatr Hematol Oncol ; 2: Pre and post-splenectomy vaccine prophylaxis and prophylactic antibiotics are recommended in order to prevent infections.
J Lab Clin Med. Splenectomy usually results in disappearance of anemia and clear amelioration of hemolytic markers. Thrombo-embolic disease after splenectomy for hereditary stomatocytosis. Molecular genetic testing is not routinely used to confirm diagnosis.
Check this box if you wish to receive a copy of your message. Postoperative pulmonary embolism in a young female accompanying with Factor V Leiden mutation and hereditary sypherocytosis. Treatment involves management of jaundice phototherapy and even exchange blood transfusion to prevent hyperbilirubinemic encephalopathy and RBC transfusions in case of severe, symptomatic anemia.
Specialised Social Services Eurordis directory. Age of onset and severity vary considerably depending on the degree of anemia and hemolysis. Am J Hematol ;57 1: Erythroid membrane protein defects in hereditary spherocytosis. 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.
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. Oxygen affinity and compensated hemolysis in hereditary spherocytosis.