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HFE gene mutations in patients with altered iron metabolism in Argentina
M V Rossetti1, M Méndez, S Afonso
1Centro de Investigaciones sobre Porfirinas y Porfirias (CIPYP), University of Buenos Aires, Argentina.
Insights
Hereditary Hemochromatosis (HH) is an iron overload disorder. This study found HFE gene mutations, particularly H63D, are common in patients with iron metabolism alterations, aiding early HH diagnosis.
Area of Science:
- Genetics
- Internal Medicine
- Biochemistry
Background:
- Hereditary Hemochromatosis (HH) is a genetic disorder characterized by excessive iron absorption.
- Iron overload leads to deposition in organs like the liver, potentially causing cirrhosis, diabetes, and cardiac issues.
- Six types of HH exist, often linked to mutations in genes regulating iron metabolism, with Type I associated with HFE gene mutations.
Purpose of the Study:
- To investigate the prevalence of specific HFE gene mutations (C282Y, H63D, S65C) in individuals with iron metabolism alterations.
- To establish early diagnosis of Hereditary Hemochromatosis.
- To correlate mutation prevalence with patient origin, particularly Mediterranean populations.
Main Methods:
- Genotyping analysis of 95 individuals (77 males, 18 females) with detected iron metabolism alterations.
- Screening for C282Y, H63D, and S65C mutations within the HFE gene.
- Statistical analysis of mutation frequencies in heterozygous and homozygous states.
Main Results:
- 58% of the studied population carried HFE gene mutations.
- The H63D mutation was prevalent (32.6%), found in both heterozygous (29.5%) and homozygous (3.15%) states.
- C282Y mutation was found in 15.8% (heterozygous) and 4.15% (homozygous), while S65C mutation was detected only in heterozygous form (5.3%).
- Findings align with Mediterranean populations where H63D is more common than C282Y.
Conclusions:
- HFE gene mutations are frequent in individuals with iron metabolism alterations.
- The H63D mutation is a significant finding in this population, suggesting its importance in HH diagnosis.
- Mutation patterns observed support a Mediterranean origin for a majority of the patients studied.
Abstract:
Hereditary Hemochromatosis (HH) is an iron overload syndrome caused by increased duodenal iron absorption, which leads to excessive iron deposition in parenchymal cells of the liver and mayor organs, causing cirrhosis, diabetes, cardiac failure, endocrine complications and arthritis. There are 6 types of HH related to mutations in the genes that encode proteins of iron metabolism. HH Type I is inherited as an autosomal recessive trait of mutations in HFE gene. We investigate the prevalence of C282Y, H63D and S65C mutations in 95 individuals (77 males, 18 females) bearing iron metabolism alterations to establish an early diagnosis of HH. Among this population, 58% carried mutations in the HFE gene (45 males, 10 females). H63D mutation was found in 32.6% of the subjects (29.5% in heterozygocity, 3.15% in homozygocity). S65C mutation was only detected in the heterozygous form (5.3% of the patients), 2 of them carried also H63D mutation. C282Y in heterozygocity was found in 15.8% of the individuals; but only 4.15% carried this mutation in homozygocity. Our findings are in agreement with the prevalence of the Mediterranean origin of most of our patients, where C282Y mutation is not as common as H63D mutation.
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