title: The impact of H63D HFE gene carriage on hemoglobin and iron status in children.
abstract: The molecular mechanism that regulates iron homeostasis is based on a network of signals, which reflect on the iron requirements of the body. Hereditary hemochromatosis is a heterogenic metabolic syndrome which is due to unchecked transfer of iron into the bloodstream and its toxic effects on parenchymatous organs. It is caused by the mutation of genes that encode proteins that help hepcidin to monitor serum iron. These proteins include the human hemochromatosis protein -HFE, transferrin-receptor 2, hemojuvelin in rare instances, and ferroportin. HFE-related hemochromatosis is the most frequent form of the disease. Interestingly, the low penetrance of polymorphic HFE genes results in rare clinical presentation of the disease, predominantly in middle-aged males. Taking into account the wide dispersion of HFE mutation in our population and also its unknown role in heterozygotes, we analyzed the impact of H63D HFE carriage in the developmental age, with respect to gender, on the iron status and hemoglobin concentration of carriers in comparison to those of wild-type HFE gene (12.7 ± 3.07 years, 42 boys and 41 girls). H63D carriers presented higher blood iron, transferrin saturation, and ferritin concentration than wild-type probands (p < 0.05.) Interestingly, male H63D carriers showed higher hemoglobin concentration than the unburdened children. Moreover, in the H63D carrier group, a positive correlation between iron and hemoglobin was noted. In conclusion, this study demonstrates that changes in iron metabolism occur at a young age in HFE heterozygotes.
authors.affiliation: Department of Occupational Therapy, Gdansk University of Physical Education and Sport, K Gorski 1 Str., 80-336, Gdansk, Poland. barbara.kaczorowska@awf.gda.pl.
authors.forename: Kaczorowska-Hac
authors.initials: KH
authors.lastname: Barbara
authors.affiliation: Department of Physiology, Gdansk University of Physical Education and Sport, Gdansk, Poland.
authors.forename: Luszczyk
authors.initials: L
authors.lastname: Marcin
authors.affiliation: Department of Bioenergetics and Physiology of Exercise, Medical University of Gdansk, Gdansk, Poland.
authors.forename: Antosiewicz
authors.initials: A
authors.lastname: Jedrzej
authors.affiliation: Department of Bioenergetics and Nutrition, Gdansk University of Physical Education and Sport, Gdansk, Poland.
authors.forename: Ziolkowski
authors.initials: Z
authors.lastname: Wieslaw
authors.affiliation: Department of Pediatrics, Hematology and Oncology, Medical University of Gdansk, Gdansk, Poland.
authors.forename: Adamkiewicz-Drozynska
authors.initials: AD
authors.lastname: Elzbieta
authors.affiliation: Department of Pediatrics, Diabetology and Endocrinology, Medical University of Gdansk, Gdansk, Poland.
authors.forename: Mysliwiec
authors.initials: M
authors.lastname: Malgorzata
authors.affiliation: Laboratory of Molecular Biology at the Medical University of Gdansk, Gdansk, Poland.
authors.forename: Milosz
authors.initials: M
authors.lastname: Ewa
authors.affiliation: Department of Physiotherapy, Gdansk University of Physical Education and Sport, Gdansk, Poland.
authors.forename: Kaczor Jan
authors.initials: KJ
authors.lastname: Jacek
mesh_terms: D000293:Adolescent; D002648:Child; D005260:Female; D014644:Genetic Variation / Q000235:genetics*; D000071020:Hemochromatosis Protein / Q000235:genetics*; D006454:Hemoglobins / Q000378:metabolism*; D006579:Heterozygote; D006801:Humans; D007501:Iron / Q000097:blood*; D008297:Male
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D006454:Hemoglobins; D007501:Iron
keywords: Children; Ferritin; HFE mutation; Hemoglobin; Iron; Transferrin saturation