44005

The impact of iron regulating genes mutations on iron overload in β-thalassemia patients

Thesis

Last updated: 06 Feb 2023

Subjects

-

Tags

Clinical & Chemical Pathology

Advisors

Muhammad, Hanaa R., Abou-Elaiw, Heba H., Magdi, Ranya E.

Authors

Farhan, Amira Salah

Accessioned

2017-07-12 06:42:27

Available

2017-07-12 06:42:27

type

M.Sc. Thesis

Abstract

Background: Hepcidin encoded by HAMP gene plays a key rolein modulating iron absorption in β-thalassemia. Hepcidin deficiency dueto 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 G71Dof 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 screenedfor the H63D and G71D mutations by polymerase chain reactionrestrictionfragment-length polymorphism (PCR-RFLP). Estimation ofiron overload was based on serum iron, TIBC, ferritin and transferrinsaturation. Results: Among the studied patients, 30 (57.7%) carried thewild-type profile, 13 (25%) carried G71D mutation of HAMP gene, 12(23.1%) carried the H63D mutation of HFE gene and 3 (5.8%) carriedboth mutations. Both HAMP-G71D and HFE-H63D mutations observedamong patients were in the heterozygous condition. Patients with eitherHAMP-G71D or HFE-H63D variants did not show significant differencein iron overload parameters in relation to wild-type patients. Conclusion:The G71D mutation of HAMP gene and H63D mutation of HFE gene arecommon among β-thalassemia major patients. Neither the HAMP-G71Dmutation nor the HFE-H63D mutation is a major determinant of totalbody iron status in patients with β-thalassemia major.

Issued

1 Jan 2012

DOI

http://dx.doi.org/10.21473/iknito-space/37942

Details

Type

Thesis

Created At

31 Jan 2023