Romina Rahmani1, Parisa Naseri2, Ava Safaroghli-Azar3, Shahriar Tarighi4, Tahereh Hosseini5, Mohammad Taher Hojjati6. 1. Department of hematology, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Electronic address: rominarahmani86@googlemail.com. 2. Department of Biostatistics, Faculty of Paramedical Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Electronic address: pnaseri.89@gmail.com. 3. Department of hematology, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Electronic address: ava_azari@yahoo.com. 4. Department of medical laboratory sciences, school of allied medical sciences, shahid Beheshti University of medical sciences, Tehran, Iran. Electronic address: shahryartarighi@sbmu.ac.ir. 5. Student Research Committee, Mazandaran University of Medical Sciences, Sari, Iran. Electronic address: nasrin801@gmail.com. 6. Laboratory Science research center, faculty of Paramedicine of Golestan University of medical sciences, Gorgan, Iran. Electronic address: dr.hojati@goums.ac.ir.
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 1000ng/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.
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 majorpatients 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 1000ng/ml of serum Ferritin levels. The HFE gene mutant allele detected by RFLP-PCR. RESULTS: Of 105 thalassemiapatients, 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-thalassemiapatients.