Hereditary hemochromatosis in a pediatric practice
DOI:
https://doi.org/10.13112/pc.975Keywords:
Hereditary hemochromatosis, Iron, Ferritin, ChildrenAbstract
Hereditary hemochromatosis is a clinical-pathological syndrome characterized by excessive accumulation of iron in parenchymal organs, leading to subsequent damage of the affected organs. The aim of this paper is to highlight the signs that should raise a suspicion of hemochromatosis in routine pediatric practice. We present three children referred for hematological evaluation due to elevated serum iron levels and transferrin saturation. Genetic testing confirmed a homozygous C282Y variant in the HFE gene in all cases, thereby confirming the diagnosis of hereditary hemochromatosis. The patients were further regularly followed-up by a multidisciplinary team. Conclusion: Timely diagnosis of hereditary hemochromatosis in asymptomatic patients is crucial for the early iintervention and prevention of irreversible organ damage.
References
1. Pietrangelo A. Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment. Gastroenterology. 2010;139(2):393-408, 408.e1-2. doi: 10.1053/j.gastro.2010.06.013.
2. Katsarou MS, Papasavva M, Latsi R, Drakoulis N. Hemochromatosis: Hereditary hemochromatosis and HFE gene. Vitam Horm. 2019;110:201-222. doi: 10.1016/bs.vh.2019.01.010.
3. Adams P, Altes A, Brissot P, et. al. Contributors and Hemochromatosis International Taskforce. Therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype. Hepatol Int. 2018;12(2):83-86. doi: 10.1007/s12072-018-9855-0.
4. Kowdley KV, Brown KE, Ahn J, Sundaram V. ACG Clinical Guideline: Hereditary Hemochromatosis. Am J Gastroenterol. 2019;114(8):1202-1218. doi: 10.14309/ajg.0000000000000315.
5. Porter JL, Rawla P. Hemochromatosis. In: StatPearls [Internet]. 2024 Oct 6. Dostupno na: https://www.ncbi.nlm.nih.gov/books/NBK430862/
6. Moyer TP, Highsmith WE, Smyrk TC, Gross JB Jr. Hereditary hemochromatosis: laboratory evaluation. Clin Chim Acta. 2011;412(17-18):1485-92. doi: 10.1016/j.cca.2011.04.007.
7. Srivastava NK, Mukherjee S, Mishra VN. One advantageous reflection of iron metabolism in context of normal physiology and pathological phases. Clin Nutr ESPEN. 2023;58:277-294. doi: 10.1016/j.clnesp.2023.10.006.
8. Haddy TB, Castro OL, Rana SR. Hereditary hemochromatosis in children, adolescents, and young adults. Am J Pediatr Hematol Oncol. 1988;10(1):23-34. doi: 10.1097/00043426-198821000-00006.
9. Štimac D, Milić S. Nasljedna hemokromatoza - mogućnosti u dijagnostici i terapiji. Acta medica Croatica: Časopis Akademije medicinskih znanosti Hrvatske. 2003;57:237-240.
10. Corti P, Ferrari GM, Faraguna MC et al. Haemochromatosis in children: A national retrospective cohort promoted by the A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica) study group. Br J Haematol. 2024;204(1):306-314. doi: 10.1111/bjh.19208.
11. Piperno A, Bertola F, Bentivegna A. Juvenile Hemochromatosis. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. 2005. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1170/?utm_source=chatgpt.com
12. Villa Nogueyra S, Trujillo Rodríguez MF, Garcia Oliva ML et al. The Genetic Diagnostics of Hemochromatosis: Disparities in Low- Versus High-Income Countries. Cureus. 2024;16(7):e64074. doi: 10.7759/cureus.64074.
13. Tavill AS, Adams PC. A diagnostic approach to hemochromatosis. Can J Gastroenterol. 2006;20(8):535-40. doi: 10.1155/2006/934098.
14. Turbiville D, Du X, Yo J, Jana BR, Dong J. Iron Overload in an HFE Heterozygous Carrier: A Case Report and Literature Review. Lab Med. 2019;50(2):212-217. doi: 10.1093/labmed/lmy065.
15. Gurrin LC, Bertalli NA, Dalton GW et al. HealthIron Study Investigators. HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity. Hepatology. 2009;50(1):94-101. doi: 10.1002/hep.22972.
16. Barton JC, Acton RT. Hemochromatosis and Vibrio vulnificus wound infections. J Clin Gastroenterol. 2009;43(9):890-3. doi: 10.1097/MCG.0b013e31819069c1.
17. Whittington CA, Kowdley KV. Review article: haemochromatosis. Aliment Pharmacol Ther. 2002;16(12):1963-75. doi: 10.1046/j.1365-2036.2002.01371.x.
18. Bassett ML, Hickman PE, Dahlstrom JE. The changing role of liver biopsy in diagnosis and management of haemochromatosis. Pathology. 2011;43(5):433-9. doi: 10.1097/PAT.0b013e3283490e04.
19. Barton JC, Parker CJ. HFE-Related Hemochromatosis. Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2000 Apr 3. Dostupno na: https://pubmed.ncbi.nlm.nih.gov/20301613/.
20. Adams PC, Barton JC. Haemochromatosis. Lancet. 2007 Dec 1;370(9602):1855-60. doi: 10.1016/S0140-6736(07)61782-6.
21. Babar S, Saboor M. Erythroferrone in focus: emerging perspectives in iron metabolism and hematopathologies. Blood Sci. 2024;6(4):e00198. doi: 10.1097/BS9.0000000000000198.
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