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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Only comments written in English can be processed. 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.

Splenomegaly is frequently observed. Age of onset and severity vary considerably depending on the degree of anemia esfwrocitosis hemolysis.

Four HS categories have been identified: Rare complications include poor growth, skin ulceration, chronic dermatitis, high output heart failure, and secondary iron overload. HS is caused by mutations in one of the following genes: 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. Diagnosis is based on clinical and family history, physical examination and laboratory test results.

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.

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Molecular genetic testing is not routinely used to confirm 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. 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.

Autosomal heredigaria inheritance and de novo mutations have also been reported, but are less common.

Genetic counseling is recommended in families with a history of HS. Treatment involves management of jaundice phototherapy and even exchange blood transfusion to prevent hyperbilirubinemic encephalopathy and RBC transfusions in case of severe, symptomatic anemia.

Splenectomy usually results in disappearance of anemia and clear amelioration of hemolytic markers.

Orphanet: Esferocitosis hereditaria

It is not indicated in patients with HS trait, whereas it is usually necessary in severe cases, albeit delayed esferociosis possible until the age of 6 years. For intermediate categories the indication is less clear, being useful in moderate cases before puberty. Laparoscopic splenectomy is preferred if performed by experienced surgeons.

A combined splenectomy and cholecystectomy may be beneficial in patients with gallstones. Pre and post-splenectomy vaccine prophylaxis and prophylactic antibiotics are recommended in order to prevent infections.

Folate supplement is recommended particularly after infectious events.

Serum ferritin levels should be checked annually. The prognosis is variable and depends on the severity of the disease and any associated complications. Other search option s Alphabetical list. Summary and related texts. Check this box if you wish to receive a copy of your message. 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.

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Etiology HS is caused by mutations in one of the following genes: Diagnostic methods Diagnosis is based on clinical and family history, physical examination and laboratory test results.

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.

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. 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.

Prognosis The prognosis is variable and depends on the severity of the disease and any associated complications. Professionals Review article Deutsch English Clinical practice guidelines Deutsch Clinical genetics review English Health care resources for this disease Expert centres Diagnostic tests 35 Patient organisations 17 Orphan drug s 0.

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