AI Article Synopsis
- Hereditary hemochromatosis is a condition linked to excessive iron absorption, primarily caused by mutations in the HFE gene, particularly C282Y and H63D.
- A study involving 100 individuals with β thalassemia traits and 100 healthy controls investigated the impact of these HFE mutations on iron levels, finding no C282Y mutation and similar H63D allele frequencies in both groups.
- Results indicated that individuals with H63D mutations had significantly higher serum ferritin levels, suggesting that having this mutation along with β thalassemia increases iron overload, pointing to a shared genetic background with European populations.
Article 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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6816897 | PMC |
| http://dx.doi.org/10.1002/jcla.22054 | DOI Listing |
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