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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Applying criteria such as permanence of an increased percentage of spherocytes, family history, biochemical symptoms of hemolysis and clinical data, we claim a prevalence of generally asymptomatic hereditary spherocytosis HS of 1: The most used test for diagnosing HS is the osmotic fragility of the red cell.

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Folate supplement is recommended particularly after infectious events. 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.

This procedure is esfeerocitosis for patients with severe hemolytic anemia and moderately asymptomatic individuals who have vesicular lithiasis. You can change the settings or obtain more information by clicking here. Continuing navigation will esferocitosks considered as acceptance of this use. Professionals Review article Deutsch English Clinical practice guidelines Deutsch Clinical genetics review English Autosomal recessive inheritance and de novo mutations have also been reported, but are less common.

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 esfrocitosis genetic hemochromatosis. It has been proved that this disease is caused by defects in proteins participating in vertical interactions between membrane skeleton and lipid bi-layer.

Health care resources for this disease Expert centres Diagnostic tests 35 Patient organisations 17 Orphan drug s 0. Check this box if you wish to receive a copy of your message. Diagnosis is based on clinical and family history, esferocitosiw examination and laboratory test results. A combined splenectomy and cholecystectomy may be beneficial in patients with gallstones. Polish Academjy of Sciences? Splenectomy usually results in disappearance of anemia and clear amelioration of hemolytic markers.


Se recomienda el monitoreo de glucemia y ferritina.

Disease definition Hereditary spherocytosis is a congenital hemolytic anemia esfedocitosis a wide clinical spectrum from symptom-free carriers to severe hemolysis characterized by anemia, variable jaundice, splenomegaly and cholelithiasis. For all other comments, please send your remarks via contact us. This procedure is recommended for patients with severe hemolytic anemia and moderately asymptomatic individuals who have vesicular lithiasis Palabras clave: The journal fully endorses the goals of updating knowledge and facilitating the acquisition of key developments in internal medicine applied to clinical practice.

Orphanet: Esferocitosis hereditaria

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esferocitoeis Diagnostic methods Diagnosis is based on clinical and family history, physical examination and laboratory test results. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted.

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The Impact Factor measures the average number of citations received in a particular year by papers published in the journal during the two receding years. For intermediate categories the indication is less clear, being useful in moderate cases before puberty.

HS is caused by mutations in one of the following genes: SJR uses a similar algorithm as the Google page rank; it provides a quantitative and qualitative measure of the journal’s impact.

Thus it becomes possible to screen for both hereditary and secondary spherocytosis. CiteScore measures average citations received per esferocitosus published.

Clinical, biochemical and molecular aspects. Hereditary spherocytosis HS is a disease characterized by hemolytic anemia of variable severity, with spherocytes in peripheral blood and a clinical response to splenectomy.

Clinical symptoms such as jaundice, splenomegaly, esefrocitosis, aplasia and biliary calculi prompting a diagnosis of HS are in reality rare. August – September Pages ee78 Pages 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.


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 hfreditaria customer behavior.

SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field. De esta forma es posible el rastreo de la esferocitosis hereditaria y de la esferocitosis secundaria. Molecular genetic testing is not routinely used to confirm diagnosis. The documents contained in this web site are presented for information purposes only. HS is a very heterogeneous disease caused by an intrinsic defect of red cells; there are other secondary disorders to this affection.

Esferocitosis hereditaria by Jazmin Cózar Madero on Prezi

Pre and post-splenectomy vaccine prophylaxis and prophylactic antibiotics are recommended in order to prevent infections. Nine issues hereditari published each year, including mostly originals, reviews and consensus documents.

Patient and physician should be informed of the presence of HS to avoid misinterpretation of concurrent pathological symptoms. 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. Prognosis The prognosis is variable and depends on the severity of the disease and any associated complications.

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. From Monday to Friday from 9 a. HS being a hemolytic defect, frequently increased iron overload was not unexpected.