Azza Aboul Enein¹, Nermine A. El Dessouky¹, Khalda S. Mohamed², Shahira K.A. Botros^1*, Mona F. Abd El Gawad², Nehal Dyaa<sup>3

1</sup>Clinical Pathology Department, Kasr El Ainy Medical School, Cairo, Egypt; ²National Research Center, Cairo, Egypt; ³Aboul Riche Pediatric Teaching Hospital, Cairo University, Cairo, Egypt

AIM: This study aimed to detect the most common HFE gene mutations (C282Y, H63D, and S56C) in Egyptian beta thalassemia major patients and its relation to their iron status.

SUBJECTS AND METHODS: The study included 50 beta thalassemia major patients and 30 age and sex matched healthy persons as a control group. Serum ferritin, serum iron and TIBC level were measured. Detection of the three HFE gene mutations (C282Y, H63D and S65C) was done by PCR-RFLP analysis. Confirmation of positive cases for the mutations was done by sequencing.

RESULTS: Neither homozygote nor carrier status for the C282Y or S65C alleles was found. The H63D heterozygous state was detected in 5/50 (10%) thalassemic patients and in 1/30 (3.3%) controls with no statistically significant difference between patients and control groups (p = 0.22). Significantly higher levels of the serum ferritin and serum iron in patients with this mutation (p = 001).

CONCLUSION: Our results suggest that there is an association between H63D mutation and the severity of iron overload in thalassemic patients.
 

Citation: Enein AA, El Dessouky NA, Mohamed KS, Botros SKA, El Gawad MF, Dyaa N. Frequency of Hereditary Hemochromatosis (HFE) Gene Mutations in Egyptian Beta Thalassemia Patients and its Relation to Iron Overload. Open Access Maced J Med Sci. http://dx.doi.org/10.3889/oamjms.2016.055
Keywords: Thalassemia; Iron overload; HFE; genes; PCR.
*Correspondence: Dr. Shahira Kamal Anis Botros. Assistant professor of clinical pathology, Kasr El Einy medical school, Cairo, Egypt. Address: 26 Atbara st. Mohandessin ,Giza, Egypt, PO 12411. Tel: +201223780160. E-mail: shahirabotros75@outlook.com
Received: 17-Mar-2016; Revised: 18-Apr-2016; Accepted: 19-Apr-2016; Online first: 01-Jun-2016
Copyright: © 2016 Azza Aboul Enein, Nermine A. El Dessouky, Khalda S. Mohamed, Shahira K.A. Botros, Mona F. Abd El Gawad, Nehal Dyaa.   This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Competing Interests: The authors have declared that no competing interests exist.
 

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