الفهرس 
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Abstract
Background: Hepcidin encoded by HAMP gene plays a key role
in modulating iron absorption in β-thalassemia. Hepcidin deficiency due
to either mutations in HFE gene encoding the hemochromatosis protein
(HFE) or in the HAMP gene have been implicated in iron overload.
Objectives: A case-control study aimed to verify the influence of G71D
of HAMP gene and H63D of HFE gene variants on iron overload in β-
thalassemia major patients. Material & Methods: A total of 52 β-
thalassemia major patients and 46 healthy control subjects were screened
for the H63D and G71D mutations by polymerase chain reactionrestriction
fragment-length polymorphism (PCR-RFLP). Estimation of
iron overload was based on serum iron, TIBC, ferritin and transferrin
saturation. Results: Among the studied patients, 30 (57.7%) carried the
wild-type profile, 13 (25%) carried G71D mutation of HAMP gene, 12
(23.1%) carried the H63D mutation of HFE gene and 3 (5.8%) carried
both mutations. Both HAMP-G71D and HFE-H63D mutations observed
among patients were in the heterozygous condition. Patients with either
HAMP-G71D or HFE-H63D variants did not show significant difference
in iron overload parameters in relation to wild-type patients. Conclusion:
The G71D mutation of HAMP gene and H63D mutation of HFE gene are
common among β-thalassemia major patients. Neither the HAMP-G71D
mutation nor the HFE-H63D mutation is a major determinant of total
body iron status in patients with β-thalassemia major.
Keywords: HAMP-G71D, HFE-H63D, β-thalassemia major and iron
overload.
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