Study of the effect of HFE gene mutations on iron overload in Egyptian thalassemia patients

Joint Authors

Said, Fadwa
Wilson, Manal Michel
al-Wakil, Hanan
al-Ghamrawi, Muna K.
Asad, Mari
aI-Bashlawi, Amal

Source

The Egyptian Journal of Medical Human Genetics

Issue

Vol. 16, Issue 2 (30 Apr. 2015), pp.129-133, 5 p.

Publisher

Egyptian Society of Human Genetics

Publication Date

2015-04-30

Country of Publication

Egypt

No. of Pages

5

Main Subjects

Medicine

Topics

Abstract EN

HFE gene mutations have been shown to be responsible for hereditary hemochromatosis.

Their effect on iron load in b-thalassemia patients and carriers remains controversial.

Objectives : We aimed to determine the prevalence of HFE gene mutations (C282Y and H63D) in b-thalassemia patients and carriers and to investigate its effect on their serum ferritin levels.

Patients and methods: A total of 100 b-thalassemia subjects; 75 patients and 25 carriers were screened for HFE gene mutations by PCR-RFLP.

Serum ferritin measured by ELISA was evaluated in relation to HFE mutations.

Results : Twenty-eight b-thalassemia patients (37.3 %) were heterozygotes for H63D mutation (H / D), 8 (10.7%) were D / D and 39 (52 %) were negative (H / H).

Among carriers, 4 (16 %) were D/D and 21 (84 %) were H/H homozygotes.

C282Y mutant allele was not detected in any of the subjects.

Serum ferritin levels were significantly higher in b-thalassemia patients heterozygotes or homozygotes for H63D mutation compared to those without mutation (p= 0.000).

Carriers homozygotes for H63D mutation showed significantly higher serum ferritin levels compared to those without mutation (p < 0.001).

Conclusion : Homozygosity for H63D mutation tends to be associated with higher ferritin levels in beta-thalassemia patients and carriers suggesting its modulating effect on iron load in these cases.

American Psychological Association (APA)

Wilson, Manal Michel& al-Wakil, Hanan& Said, Fadwa& al-Ghamrawi, Muna K.& Asad, Mari& aI-Bashlawi, Amal. 2015. Study of the effect of HFE gene mutations on iron overload in Egyptian thalassemia patients. The Egyptian Journal of Medical Human Genetics،Vol. 16, no. 2, pp.129-133.
https://search.emarefa.net/detail/BIM-564647

Modern Language Association (MLA)

Wilson, Manal Michel…[et al.]. Study of the effect of HFE gene mutations on iron overload in Egyptian thalassemia patients. The Egyptian Journal of Medical Human Genetics Vol. 16, no. 2 (Apr. 2015), pp.129-133.
https://search.emarefa.net/detail/BIM-564647

American Medical Association (AMA)

Wilson, Manal Michel& al-Wakil, Hanan& Said, Fadwa& al-Ghamrawi, Muna K.& Asad, Mari& aI-Bashlawi, Amal. Study of the effect of HFE gene mutations on iron overload in Egyptian thalassemia patients. The Egyptian Journal of Medical Human Genetics. 2015. Vol. 16, no. 2, pp.129-133.
https://search.emarefa.net/detail/BIM-564647

Data Type

Journal Articles

Language

English

Notes

Includes bibliographical references : p. 132-133

Record ID

BIM-564647