Mona Hamdy

Citation:

Mokhtara, D. A., M. M. Hamdyb, and A. M. Badr, "Frequency of human hemochromatosis (HFE) gene mutations in Egyptians with b-thalassemia", The Egyptian Society of Haematology, vol. 38, pp. 36-40, 2013.

Abstract:

Background Hereditary hemochromatosis is a disorder of
iron metabolism characterized by increased iron intake and
progressive storage and is related to mutations in the
HFE gene. Two point mutations have been described and
are referred to as H63D and C282Y. On the other hand, iron
overload is a well-documented complication in thalassemia
syndromes. Interactions between thalassemia and
hemochromatosis may further increase iron overload. This
work aimed at studying the frequency of the H63D
and C282Y mutations of the HFE gene in an Egyptian
population with b-thalassemia (thalassemia major,
intermedia, and minor) by comparing it with normal
individuals without hemoglobinopathies.
Participants and methods This study included 86
patients with b-thalassemia; 40 of these patients had
b-thalassemia major and intermedia and the other 46
patients had b-thalassemia minor (carriers). In addition,
70 individuals were included in the study and served as
controls. All the populations studied were screened for
H63D and C282Y mutations of the HFE gene using
the PCR-restriction fragment length polymorphism
(PCR-RFLP) method.
Results The allelic frequencies found for H63D and C282Y
mutations in this study were 18.6 and 0%, respectively,
among the total alleles of individuals with b-thalassemia
and 12.8 and 1.4% among controls without