Repository of Research and Investigative Information

Repository of Research and Investigative Information

Ilam University of Medical Sciences

Prevalence of the C282Y and H63D mutations of the HFE hemochromatosis gene in Azerian major β-thalassemia and iron overload

Mon Apr 22 23:32:44 2024

(2016) Prevalence of the C282Y and H63D mutations of the HFE hemochromatosis gene in Azerian major β-thalassemia and iron overload. Comparative Clinical Pathology. pp. 151-154. ISSN 16185641 (ISSN)

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Official URL: https://www.scopus.com/inward/record.uri?eid=2-s2....

Abstract

In this study, we have determined the allele frequency of HFE mutations H63D and C282Y in a group of Azerian beta-thalassemia major patients. These two mutations are implicated in hereditary hemochromatosis among Caucasians. In this study, we wanted to outbreak these mutations with the iron status in major beta-thalassemia patients. Sixty Azerian major beta-thalassemias were screening for the C282Y and H63D by digestion of polymerase chain reaction products (PCRP). Serum ferritin level was measured by enzyme-linked immunosorbent assay (ELISA). The allele frequency of H63D mutation was 20 . C282Y mutation was not present in our studied patients. No statistically significant difference of serum ferritin level was found between major beta-thalassemia with and without HFE mutations. Our data suggest that H63D mutation is so frequent in Azerian major beta-thalassemia patients than in the general population and that the coinheritance of H63D mutation does not influence the severity of iron overload in these patients. © 2015, Springer-Verlag London.

Item Type: Article
Creators:
CreatorsEmail
Ghaderi, A.UNSPECIFIED
Ahmadi, M. R. H.UNSPECIFIED
Hosseini, E.UNSPECIFIED
Akbari, A. A. M.UNSPECIFIED
Feyzi, A. A. H. P.UNSPECIFIED
Hiradfar, A.UNSPECIFIED
Hagh, M. F.UNSPECIFIED
Keywords: Azerian Beta-thalassemia major HFE gene mutations Iron overload Patient
Divisions:
Page Range: pp. 151-154
Journal or Publication Title: Comparative Clinical Pathology
Journal Index: Scopus
Volume: 25
Number: 1
Identification Number: https://doi.org/10.1007/s00580-015-2156-2
ISSN: 16185641 (ISSN)
Depositing User: مهندس مهدی شریفی
URI: http://eprints.medilam.ac.ir/id/eprint/1408

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