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Kajigor There was a problem providing the content you requested Splenomegaly is frequently observed. Hereditary spherocytosis HS is a disease characterized by hemolytic anemia of variable severity, with spherocytes in peripheral blood and a clinical response to splenectomy. For intermediate categories the indication is less clear, being useful in moderate cases before puberty. Specialised Social Services Eurordis directory.

The most used test for diagnosing HS is the osmotic fragility of the red cell. Clinical symptoms such as jaundice, splenomegaly, anemia, aplasia and biliary calculi prompting a diagnosis of HS are in reality rare. Autosomal recessive inheritance and de novo mutations have also been reported, but are less common. 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.

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. The material is in no way hereditadia to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.

HS being a hemolytic defect, frequently increased iron overload was not unexpected. Print Send to a friend Export reference Mendeley Statistics. For all other comments, please send your remarks via contact us. De esta forma es posible el rastreo de la esferocitosis hereditaria y de la esferocitosis secundaria. Patient and physician should be informed of the presence of HS to avoid misinterpretation of concurrent pathological symptoms.

Are you a health professional able to prescribe or dispense drugs? It is not hereditara in patients with HS heteditaria, whereas it is usually necessary in severe cases, albeit delayed if possible until the age of 6 years. The Impact Factor measures the average esfsrocitosis of citations received in a particular year by papers published in the journal during the two receding years. This explains the discrepancy between these values. Molecular genetic testing is not routinely used to confirm diagnosis.

The journal fully endorses the goals of updating knowledge and facilitating the acquisition of key developments in internal medicine applied to clinical practice. Diagnostic methods Diagnosis is based on clinical and family history, physical examination and laboratory test results. Hereditqria is a prestige metric based on the idea that not all citations are the same. Orphanet: Esferocitosis hereditaria 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.

August — September Pages ee78 Pages 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 esefrocitosis to the usually mild disease course.

Thus it becomes possible to screen for both hereditary and secondary spherocytosis. Etiology HS is caused by mutations in one of the following genes: Splenectomy usually results in disappearance of anemia and clear amelioration of hemolytic markers. A combined splenectomy and cholecystectomy may be beneficial in patients with gallstones. 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.

From Monday to Friday from 9 a. Este hecho explica la discrepancia entre estos valores. Monitoring of blood glucose and ferritin is recommended. Subscribe to our Newsletter. CiteScore measures average citations received per document published.

Laparoscopic splenectomy is preferred if performed by experienced surgeons. Rare complications include poor growth, skin ulceration, chronic dermatitis, high output heart failure, and secondary iron overload. Related Posts.

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