Esferocitosis hereditaria. Carolina Cózar Trastorno hemolítico familiar caracterizado por: anemia ictericia intermitente esplenomegalia. El estudio realizado en Luxemburgo demuestra que la prevalencia de esferocitosis hereditaria es mucho más alta que la considerada hasta ahora. Resumen. HERRERA GARCIA, Mayelín y ESTRADA DEL CUETO, Marianela. Hereditary spherocytosis: Clinical, biochemical and molecular aspects.
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You can change the settings or obtain more information by clicking here. Serum ferritin levels should be checked annually.
Splenectomy usually results in disappearance of anemia and clear amelioration of hemolytic markers. Se recomienda el monitoreo de glucemia y ferritina. Professionals Review article Deutsch English Clinical practice guidelines Deutsch Clinical genetics review English SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field.
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. Diagnosis is based on clinical and family history, physical examination and laboratory test results. For intermediate categories the indication is less clear, being useful in moderate cases before puberty.
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August – September Pages ee78 Pages Print Send to a friend Export reference Mendeley Heredotaria. This procedure is recommended for patients with severe hemolytic anemia and moderately asymptomatic individuals who have vesicular lithiasis.
The development of new techniques allowed finding out the first biochemical alterations in erythrocyte membrane proteins and later on, the recombinant DNA techniques made possible to detect molecular alternations. To improve our services and products, we use “cookies” own or third parties authorized to esferocitosks advertising related to client preferences through the analyses of navigation customer behavior.
De esta forma es posible el rastreo de la esferocitosis hereditaria y de la esferocitosis secundaria. Check this box if you wish to receive a copy of your message. The high association of HS with both diabetes and iron overload suggest damage of the endocrine pancreas by the latter, as it is also seen in genetic hemochromatosis.
Hereditary spherocytosis complicated with lower limb ulcers in a pregnant patient. Patient and physician should be informed of the presence of HS to avoid misinterpretation of concurrent pathological symptoms.
Molecular genetic testing is not routinely used to confirm diagnosis. Si continua hereditarla, consideramos que acepta su uso. Autosomal recessive inheritance and de novo mutations have also been reported, but are less common. The treatment of choice in HS is splenectomy, since this is the most effective method in the control of anemia, although red cell survival is still short and spherocytes do not disappear.
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Etiology HS is caused by mutations heredotaria one of the following genes: It is not indicated in patients with HS trait, whereas it is usually necessary in severe cases, albeit delayed if possible until the age of 6 years.
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. 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.
Esferocitosis hereditaria: aspectos clínicos, bioquímicos y moleculares
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Specialised Social Services Eurordis directory. Clinical, biochemical and molecular aspects.
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. The prognosis is variable and depends on the severity of the disease and any associated complications. 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.
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