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Influence of Iron Regulating genes mutations on iron overload in sickle cell disease

Thesis

Last updated: 06 Feb 2023

Subjects

-

Tags

Clinical &Chemical Pathology

Advisors

Abdel-Rahman, Hala A., Yusri, Elham, Abou-Elaiw, Heba H.

Authors

El-Shourbagi, Rim Mussttafa

Accessioned

2017-07-12 06:42:23

Available

2017-07-12 06:42:23

type

M.Sc. Thesis

Abstract

A case-control study aimed to determine the prevalence of G71D mutation of HAMP gene and H63D mutation of HFE gene in Sickle cell disease patients as well as to assess their impact on iron overload in these patients. A total of 47-sickle cell patients and 45 healthy control subjects were screened for the H63D and G71D mutations by polymerase chain reaction-restriction fragment-length polymorphism (PCR-RFLP). Estimation of iron overload was based on serum iron, TIBC, ferritin and transferrin saturation. Among the studied patients, 27 (57.4%) carried the wild-type profile 6 (12.8%) carried heterozygous type and 1(2.1 %) carried homozygous G71D mutation of HAMP gene, 13 (27.7%) carried the H63D mutation of HFE gene and 2 (4.3%) carried both mutations. Patients with either HAMP-G71D or HFE-H63D variants did not show significant difference in iron overload parameters in relation to wild-type patients.

Issued

1 Jan 2012

DOI

http://dx.doi.org/10.21473/iknito-space/37880

Details

Type

Thesis

Created At

28 Jan 2023