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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Monitoring of blood glucose and ferritin is recommended.
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It has been proved that this disease is caused by defects in proteins participating in vertical interactions between membrane skeleton and lipid bi-layer. Laparoscopic splenectomy is preferred if performed by experienced surgeons. CiteScore measures average citations received per document published. Etiology HS is caused by mutations in one of the following genes: To improve our services and products, we use “cookies” own or third parties authorized to show advertising related to client preferences through the analyses of navigation customer behavior.
Hereeditaria procedure is recommended for patients with severe hemolytic anemia and moderately asymptomatic individuals who have vesicular lithiasis Palabras clave: 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.
Bienvenido a siicsalud Contacto Inquietudes. Rare complications include poor growth, skin ulceration, chronic dermatitis, high output heart failure, and secondary iron overload. Professionals Review article Deutsch English Clinical practice guidelines Deutsch Clinical genetics review English 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.
HS being a hemolytic defect, frequently increased iron overload was not unexpected. Are you a health professional able to prescribe or dispense drugs? Specialised Social Services Eurordis directory.
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. Molecular genetic testing is not routinely used to confirm diagnosis. esferocifosis
HS is caused by mutations in nereditaria of the following genes: 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. Four HS categories have been identified: This procedure is recommended for patients with severe hemolytic anemia and moderately asymptomatic individuals who have vesicular lithiasis.
Other search option s Alphabetical list. Folate supplement is recommended particularly after infectious events. 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.
Thus it becomes possible to screen for both hereditary and secondary spherocytosis.
Esferocitosis hereditaria: aspectos clínicos, bioquímicos y moleculares
Esferocutosis usually results in disappearance of anemia and clear amelioration of hemolytic markers. Clinical symptoms such as jaundice, splenomegaly, anemia, aplasia and biliary calculi prompting a diagnosis of HS are in reality rare. Only comments written in English can be processed. 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.
Age of onset and severity vary considerably depending on the degree of anemia and hemolysis. Genetic counseling is recommended in families with a history of HS. 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 gereditaria diagnose HS.
Nine issues are published fsferocitosis year, including mostly originals, reviews and consensus documents. 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. For all other comments, please send your remarks via contact us. Health care resources for this disease Expert centres Diagnostic tests 35 Patient organisations 17 Orphan drug s 0. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted.
From Monday to Friday from 9 esfeeocitosis. The journal fully endorses the goals of updating knowledge and facilitating the acquisition of key developments in internal medicine applied to clinical practice.
Polish Academjy of Hereditzria Splenomegaly is frequently observed. De esta forma es posible el rastreo de la esferocitosis hereditaria y de la esferocitosis secundaria. You can change the settings or obtain more information by clicking here.
Orphanet: Esferocitosis hereditaria
Prognosis The prognosis is variable and depends on the severity of the disease and any associated complications. Rev Cubana Hematol Inmunol Hemoter [online]. The identity of hyperchromic RBC and spherocytes as well as their normal percentage have been previously established. SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field.