ArticleJournal of clinical laboratory analysis2017
Effect of the Hemochromatosis Mutations on Iron Overload among the Indian β Thalassemia Carriers.
Article in Journal of clinical laboratory analysis, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 10 citations in OpenAlex.
- Article
- Liver Iron Content in Individuals With B-Thalassemia Trait and Hyperferritinemia: Role of Metabolic Alterations,Mediterranean journal of hematology and infectious diseases · 2026Article
- A case series of patients with β-thalassemia trait and iron overload: from multifactorial hepcidin suppression to treatment with mini-phlebotomies.Haematologica · 2025Article
- Impact of genotype on multi-organ iron and complications in patients with non-transfusion-dependent β-thalassemia intermedia.Annals of hematology · 2024Article
- Molecular genetics of β-thalassemia: A narrative review.Medicine · 2021Review
- Association of frequency of hereditary hemochromatosis (HFE) gene mutations (H63D and C282Y) with iron overload in beta-thalassemia major patients in Pakistan.Saudi medical journal · 2019Article
- Late-onset Hemochromatosis: Co-inheritance of β-thalassemia and Hereditary Hemochromatosis in a Chinese Family: A Case Report and Epidemiological Analysis of Diverse Populations.Internal medicine (Tokyo, Japan) · 2018Article
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHereditary 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.
methodsWe 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.
resultsWe 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.
conclusionThis 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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