HFE mutation H63D predicts risk of iron over load in thalassemia intermedia irrespective of blood transfusions.

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dc.contributor.authorSharma, Vineetaen_US
dc.contributor.authorPanigrahi, Inushaen_US
dc.contributor.authorDutta, Pankhien_US
dc.contributor.authorTyagi, Seemaen_US
dc.contributor.authorChoudhry, Ved Prakashen_US
dc.contributor.authorSaxena, Renuen_US
dc.date.accessioned2007-01-04en_US
dc.date.accessioned2009-05-29T13:00:38Z
dc.date.available2007-01-04en_US
dc.date.available2009-05-29T13:00:38Z
dc.date.issued2007-01-04en_US
dc.description.abstractIron overload is a well-documented complication in thalassemia intermedia. Moreover, it is seen that the number of blood transfusions received does not correlate with the degree of overload. Since, HFE gene is associated with iron overload; the present study was conducted in an attempt to evaluate its role in thalassemia intermedia. The subjects were consecutive thalassemia intermedia cases attending the Hematology outpatient clinic. Controls were healthy hospital staff with negative family history of hemolytic anemia or liver disease. The molecular analysis for HFE mutations H63D and C282Y were done with primers described earlier. ELISA was used to measure serum ferritin. Sixty-three patients of thalassemia intermedia including 48 beta-homozygous/heterozygous thalassemia intermedia and 15 HbE-beta-thalassemia were studied. Six (12.5%) of the former and two (13.3%) of the latter were heterozygous for H63D; one of which, a 51-year old male also had clinical features of hemochromatosis. In healthy controls, prevalence of H63D heterozygosity was 7.5% (6/80). An interesting feature observed was that though the age and transfusions taken were similar in both groups, the serum ferritin greater than 500 ng/dl were observed in all patients (100%) with HFE mutation whereas it was seen in 12/42 (28.6 %) of patients without the mutation (p = 0.002). Thus, it is concluded that thalassemia intermedia patients with co-existent HFE mutation have a higher likelihood of developing iron overload and may require early iron chelation.en_US
dc.description.affiliationDepartment of Hematology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi.en_US
dc.identifier.citationSharma V, Panigrahi I, Dutta P, Tyagi S, Choudhry VP, Saxena R. HFE mutation H63D predicts risk of iron over load in thalassemia intermedia irrespective of blood transfusions. Indian Journal of Pathology & Microbiology. 2007 Jan; 50(1): 82-5en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/75199
dc.language.isoengen_US
dc.source.urihttps://www.ijpmonline.orgen_US
dc.subject.meshAdolescenten_US
dc.subject.meshAdulten_US
dc.subject.meshAmino Acid Substitution --geneticsen_US
dc.subject.meshBlood Transfusionen_US
dc.subject.meshChilden_US
dc.subject.meshChild, Preschoolen_US
dc.subject.meshEnzyme-Linked Immunosorbent Assayen_US
dc.subject.meshFemaleen_US
dc.subject.meshFerritins --blooden_US
dc.subject.meshGenetic Predisposition to Diseaseen_US
dc.subject.meshHemochromatosis --geneticsen_US
dc.subject.meshHistocompatibility Antigens Class I --geneticsen_US
dc.subject.meshHumansen_US
dc.subject.meshInfanten_US
dc.subject.meshIron --toxicityen_US
dc.subject.meshMaleen_US
dc.subject.meshMembrane Proteins --geneticsen_US
dc.subject.meshMutation, Missenseen_US
dc.subject.meshProspective Studiesen_US
dc.subject.meshThalassemia --complicationsen_US
dc.titleHFE mutation H63D predicts risk of iron over load in thalassemia intermedia irrespective of blood transfusions.en_US
dc.typeJournal Articleen_US
dc.typeResearch Support, Non-U.S. Gov'ten_US
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