Effect of the Hemochromatosis Mutations on Iron Overload among the Indian β Thalassemia Carriers.

Abstract

BACKGROUND:

Hereditary hemochromatosis is a disorder of iron metabolism characterized by increased iron absorption.HFE gene mutations C282Y and H63D are responsible for the majority of hereditary hemochromatosis cases.

METHODS:

We tried to look at the effect of HFE mutations on the iron status. A total of 100 β thalassemia traits (BTT) with 100 normal individuals were screened for the C282Y and H63D mutations using PCR-RFLP. The serum ferritin levels were determined using ELISA kit.

RESULTS:

We did not find the C282Y mutation in our study group. The allelic frequencies for H63D mutation did not differ significantly between β-thalassemia traits (8.5%) and normal controls (9%). ΒΤΤ with H63D genotype of H/D (143.16 ± 80.3 ng/ml) and D/D (504 ng/ml) showed higher ferritin levels as against H/H genotype (88.64 ± 92.43 ng/ml). The statistically significant difference was observed in the mean serum ferritin levels among the individuals showing H/H and D/D genotypes (P < 0.002) and H/D and D/D genotype (P < 0.01) in both the groups.

CONCLUSION:

This suggests that iron load in BTT tends to aggravated with the co-inheritance of the H63D mutation. The mutant H63D gene showed the presence of haplotype 6 which is reported in the European population suggesting a common origin.

• Authors: Anita H Nadkarni, Aradhana A Singh, Stacy Colaco, Priya Hariharan, Roshan B Colah, Kanjaksha Ghosh
• Journal: Journal of clinical laboratory analysis (J Clin Lab Anal) Vol. 31 Issue 3 (May 2017) ISSN: 1098-2825 [Electronic] United States
• PMID: 27561698 (Publication Type: Journal Article)
• Copyright: © 2016 Wiley Periodicals, Inc.

Chemical References

• HFE protein, human
• Hemochromatosis Protein
• Hemoglobins
• Ferritins

Topics

• Ferritins (blood)
• Gene Frequency
• Hemochromatosis (genetics)
• Hemochromatosis Protein (genetics)
• Hemoglobins (analysis)
• Heterozygote
• Humans
• India
• Mutation (genetics)
• White People (genetics)
• beta-Thalassemia (genetics)