The impact of H63D HFE gene carriage on hemoglobin and iron status in childrenReportar como inadecuado

The impact of H63D HFE gene carriage on hemoglobin and iron status in children - Descarga este documento en PDF. Documentación en PDF para descargar gratis. Disponible también para leer online.

Annals of Hematology

, Volume 95, Issue 12, pp 2043–2048

First Online: 24 August 2016Received: 01 July 2016Accepted: 05 August 2016DOI: 10.1007-s00277-016-2792-x

Cite this article as: Barbara, KH., Marcin, L., Jedrzej, A. et al. Ann Hematol 2016 95: 2043. doi:10.1007-s00277-016-2792-x


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.

KeywordsChildren HFE mutation Iron Ferritin Transferrin saturation Hemoglobin  Download fulltext PDF

Autor: Kaczorowska-Hac Barbara - Luszczyk Marcin - Antosiewicz Jedrzej - Ziolkowski Wieslaw - Adamkiewicz-Drozynska Elzbieta - Mysli


Documentos relacionados