HFE Gene Mutations and Iron Status in 100 Healthy Polish Children
| Autor: | Malgorzata Mysliwiec, Ewa Milosz, Jan J. Kaczor, Barbara Kaczorowska-Hac, Jedrzej Antosiewicz, Elżbieta Adamkiewicz-Drożyńska, Marcin Luszczyk, Wieslaw Ziolkowski |
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| Rok vydání: | 2017 |
| Předmět: |
Male
0301 basic medicine congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Adolescent Genotype Iron Compound heterozygosity medicine.disease_cause 03 medical and health sciences Sex Factors 0302 clinical medicine children transferrin saturation Internal medicine medicine Humans Child Hemochromatosis Protein Mutation biology Transferrin saturation business.industry ferritin Metabolic disorder Transferrin Oxygen transport nutritional and metabolic diseases Hematology medicine.disease Ferritin 030104 developmental biology Endocrinology Oncology Child Preschool 030220 oncology & carcinogenesis Hereditary hemochromatosis Ferritins Pediatrics Perinatology and Child Health biology.protein Female HFE Hemochromatosis Poland business Online Articles: Original Articles |
| Zdroj: | Journal of Pediatric Hematology/Oncology |
| ISSN: | 1077-4114 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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