Golestan University of Medical Sciences Repository

Investigation of correlation between H63D and C282Y mutations in HFE gene and serum Ferritin level in beta-thalassemia major patients �tude de la corrélation entre les mutations H63D et C282Y du gène HFE et du taux sérique de ferritine chez des patients bêta-thalassémiques majeurs

Rahmani, R. and Naseri, P. and Safaroghli-Azar, A. and Tarighi, S. and hosseini, T. and Hojjati, M.T. (2019) Investigation of correlation between H63D and C282Y mutations in HFE gene and serum Ferritin level in beta-thalassemia major patients �tude de la corrélation entre les mutations H63D et C282Y du gène HFE et du taux sérique de ferritine chez des patients bêta-thalassémiques majeurs. Transfusion Clinique et Biologique, 26 (4). pp. 249-252.

Full text not available from this repository.

Abstract

Introduction: Mutations in the HFE gene have been shown to be associated with hemochromatosis which is observed in beta-thalassemia major. In this study, we determined the HFE gene mutations (C282Y and H63D) among b-thalassemia major patients to investigate the effect of these mutations on serum Ferritin levels. Material and methods: In this cross-sectional study, a total of 105 b-thalassemia subjects with a history of regular blood transfusion were selected. They divided into two distinct groups according cut off 1000 ng/ml of serum Ferritin levels. The HFE gene mutant allele detected by RFLP-PCR. Results: Of 105 thalassemia patients, 29 patients (14 male and 15 female) were heterozygote for H63D mutation, and just one male was homozygote, but for C282Y mutation just one heterozygote and one homozygote was detected, and overall 31 had coexistence of b-thal and HFE gene mutations. As expected, Ferritin levels significantly differed between groups (P = 0.001). Conclusion: The impact of detection of HFE mutations could prognosis the likelihood of iron overload in multi-transfused patients, and allowing early diagnosis and proper management to overcome complications of iron overload in beta-thalassemia patients. © 2019

Item Type: Article
Additional Information: cited By 0
Uncontrolled Keywords: aspartic acid; cysteine; ferritin; hemochromatosis protein; histidine; tyrosine, adult; amino acid substitution; Article; beta thalassemia; blood analysis; blood transfusion; clinical article; controlled study; cross-sectional study; disease association; female; ferritin blood level; gene frequency; gene mutation; heterozygosity; HFE gene; homozygosity; human; Iran; iron overload; male; polymerase chain reaction restriction fragment length polymorphism; prevalence; prognosis; sex difference
Subjects: سیستم های خونی و لنفاوی WH
QU بیوشیمی
آسیب شناسی QZ
مقالات نمایه شده محققین دانشگاه در سایت ,Web of Science ,Scopus
Divisions: معاونت تحقیقات و فناوری
Depositing User: GOUMS
Date Deposited: 10 Dec 2019 08:14
Last Modified: 10 Dec 2019 08:14
URI: http://eprints.goums.ac.ir/id/eprint/10359

Actions (login required)

View Item View Item