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HFE Gene Mutations and Iron Status in 100 Healthy Polish Children
Barbara Kaczorowska-Hac1, Marcin Luszczyk, Jedrzej Antosiewicz
1Departments of *Occupational Therapy †Bioenergetics and Nutrition #Physiotherapy, Gdansk University of Physical Education and Sport Departments of ‡Bioenergetics and Physiology of Exercise §Pediatrics, Hematology and Oncology ∥Pediatrics, Diabetology and Endocrinology ¶Laboratory of Molecular Biology, Medical University of Gdansk.
Insights
HFE gene variants in Polish children are linked to higher iron levels and ferritin. This suggests early genetic impact on iron metabolism, potentially influencing disease progression from childhood.
Area of Science:
- Genetics
- Human Physiology
- Biochemistry
Background:
- Iron is crucial for vital biological processes, including oxygen transport and metabolism.
- Iron overload disorders, such as hereditary hemochromatosis, stem from genetic mutations affecting iron regulation.
- The HFE gene is the most common cause of hereditary hemochromatosis.
Purpose of the Study:
- To investigate the relationship between HFE gene status and iron metabolism markers in healthy Polish children.
- To assess the prevalence of different HFE gene mutations within this pediatric cohort.
- To explore potential sex-based differences in iron parameters among HFE gene carriers.
Main Methods:
- Analysis of iron metabolism indicators (serum iron, ferritin, transferrin saturation) in 100 healthy Polish children.
- Genotyping of the HFE gene to identify wild-type, heterozygous, and homozygous mutations (H63D, C282Y, S65C).
- Statistical comparison of iron parameters between children with and without HFE variants, and between sexes.
Main Results:
- The wild-type HFE gene was found in 60% of children; 25% had H63D heterozygosity, and 15% had other HFE mutations.
- Children with HFE variants exhibited significantly higher mean iron concentrations, ferritin levels, and transferrin saturation compared to the wild-type group.
- Male HFE carriers showed elevated iron concentration, transferrin saturation, and ferritin levels compared to female carriers.
Conclusions:
- HFE gene variants are associated with altered iron metabolism in healthy Polish children, even in the absence of overt disease.
- The H63D mutation and other HFE variants appear to influence iron storage and transport.
- These findings highlight the potential for early genetic detection of predisposition to iron overload conditions.
Abstract:
Iron participates in oxygen transport, energetic, metabolic, and immunologic processes. There are 2 main causes of iron overload: hereditary hemochromatosis which is a primary cause, is a metabolic disorder caused by mutations of genes that control iron metabolism and secondary hemochromatosis caused by multitransfusions, chronic hemolysis, and intake of iron rich food. The most common type of hereditary hemochromatosis is caused by HFE gene mutation. In this study, we analyzed iron metabolism in 100 healthy Polish children in relation to their HFE gene status. The wild-type HFE gene was predominant being observed in 60 children (60%). Twenty-five children (25%), presented with heterozygotic H63D mutation, and 15 children (15%), presented with other mutations (heterozygotic C282Y and S65C mutation, compound heterozygotes C282Y/S65C, C282Y/H63D, H63D homozygote). The mean concentration of iron, the level of ferritin, and transferrin saturation were statistically higher in the group of HFE variants compared with the wild-type group. H63D carriers presented with higher mean concentration of iron, ferritin levels, and transferrin saturation compared with the wild-type group. Male HFE carriers presented with higher iron concentration, transferrin saturation, and ferritin levels than females. This preliminary investigation demonstrates allelic impact on potential disease progression from childhood.