Author/Authors :
Wilson, Manal Michel Cairo University - Department of Clinical Pathology, Egypt , Al-Wakeel, Hanan Cairo University - Department of Clinical Pathology, Egypt , Said, Fadwa Cairo University - Department of Clinical Pathology, Egypt , El-Ghamrawy, Mona Cairo University - Faculty of Medicine - Department of Pediatrics, Egypt , Assaad, Mary Egyptian National Scientific and Technical information network, Egypt , El-Beshlawy, Amal Cairo University - Faculty of Medicine - Department of Pediatrics, Egypt
Abstract :
Background: HFE gene mutations have been shown to be responsible for hereditary hemochromatosis. Their effect on iron load in β-thalassemia patients and carriers remains controversial. Objectives: We aimed to determine the prevalence of HFE gene mutations (C282Y and H63D) in β-thalassemia patients and carriers and to investigate its effect on their serum ferritin levels. Patients and methods: A total of 100 β-thalassemia subjects; 75 patients and 25 carriers were screened for HFE gene mutations by PCR-RFLP. Serum ferritin measured by ELISA was evaluated in relation to HFE mutations. Results: Twenty-eight β-thalassemia patients (37.3%) were heterozygotes for H63D mutation (H/D),8 (10.7%) were D/D and 39 (52%) were negative (H/H). Among carriers,4 (16%) were D/D and 21 (84%) were H/H homozygotes. C282Y mutant allele was not detected in any of the subjects. Serum ferritin levels were significantly higher in β-thalassemia patients heterozygotes or homozygotes for H63D mutation compared to those without mutation (p = 0.000). Carriers homozygotes for H63D mutation showed significantly higher serum ferritin levels compared to those without mutation (p 0.001). Conclusion: Homozygosity for H63D mutation tends to be associated with higher ferritin levels in beta-thalassemia patients and carriers suggesting its modulating effect on iron load in these cases. © 2015 The Authors.
