A Distinctive Case of Hereditary Haemochromatosis with Multiorgan Involvement in a Pakistani Male Harbouring H63D Mutation in the HFE Gene: A Case Report

  • Maymoona suhail Haematology Department,Armed Forces Institute of Pathology. Rawalpindi, 46000, Pakistan
  • Asad Mahmood Head of Haematology Department, Armed Forces Institute of Pathology, Rawalpindi, 46000, Pakistan
  • Rafia Mahmood
  • Sadia Ali
Keywords: Haemochromatosis, HFE gene, Transferrin saturation, Iron chelation


Hereditary haemochromatosis (HH) is an inherited disorder of iron metabolism characterized by excessive iron overload and end organ damage. It is a genetically heterogenous hereditary disease caused by mutations that are broadly categorized into HFE and non HFE hereditary haemochromatosis (including Hemojuvelin, hepcidin (HAMP), Transferrin receptor 2 gene (TFR2) and Ferroportin (SLC11A3) gene mutation). We are reporting a case of a 55-year-old man resident of Baluchistan who was investigated for non-viral causes of cirrhosis and thrombocytopenia. His transferrin saturation was 63.7% and was found to have a Metavir score of F3 (moderate to severe fibrosis) on Ultrasonography Shear Wave Elastography of liver. His molecular analysis revealed Homozygous HFE: H63D mutation. Transferrin saturation, serum ferritin and liver transaminases were normalized following Iron chelation. 


. Murphree CR, Nguyen NN, Raghunathan V, Olson SR, DeLoughery T, Shatzel JJ. Diagnosis and management of hereditary haemochromatosis. Vox Sang. 2 020 May;115(4):255262. doi: 10.1111/vox.12896. Epub 2020 Feb 20. PMID: 32080859.

. Brissot P, Pietrangelo A, Adams PC, de Graaff B, McLaren CE, Loréal O. Haemochromatosis. Nat Rev Dis Primers. 2018 Apr 5;4:18016. doi:

. 10.1038/nrdp.2018.16. PMID: 29620054; PMCID: PMC7775623.

. Janssen MC, Swinkels DW. Hereditary haemochromatosis. Best Pract Res Clin

. Gastroenterol. 2009;23(2):171-83. doi: 10.1016/j.bpg.2009.02.004. PMID: 19414144.

. Bacon BR. Hemochromatosis: Diagnosis and management. Gastroenterology 2001;120:718-25.

. Pedersen P, Milman N. Genetic screening for HFE hemochromatosis in 6,020 Danish men: Penetrance of C282Y, H63D, and S65C variants. Ann Hematol 2009;88:775-84.

. Pilling LC, Tamosauskaite J, Jones G, Wood AR, Jones L, Kuo CL, Kuchel GA, Ferrucci L, Melzer D. Common conditions associated with hereditary haemochromatosis genetic variants: cohort study in UK Biobank. BMJ. 2019 Jan 16;364:k5222. doi:

. 10.1136/bmj.k5222. Erratum in: BMJ. 2019 Oct 23;367:l6157. PMID: 30651232; PMCID: PMC6334179.

. Gochee PA, Powell LW, Cullen DJ, et al. A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation. Gastroenterology 2002;122:646-51.

. Kelley M, Joshi N, Xie Y, Borgaonkar M. Hemochromatosis gene mutations in Newfoundland and their association with iron indices and transaminase levels. Gut 2010;59:A313.

. Radford-Smith DE, Powell EE, Powell LW. Haemochromatosis: a clinical update for the practising physician. Intern Med J. 2018 May;48(5):509-516. doi: 10.1111/imj.13784. PMID: 29722188.

. Aranda N, Viteri FE, Montserrat C, Arija V. Effects of C282Y, H63D, and S65C HFE gene mutations, diet, and life-style factors on iron status in a general Mediterranean population from Tarragona, Spain. Ann Hematol 2010;89:767-73.

. Neghina AM, Anghel A. Hemochromatosis genotypes and risk of iron overload – a metaanalysis. Ann Epidemiol 2011;21:1-14.

. Kelley M, Joshi N, Xie Y, Borgaonkar M. Iron overload is rare in patients homozygous for the H63D mutation. Can J Gastroenterol Hepatol 2014;28(4):198-202.

. Ismail AA, Ismail A, Ismail Y. Diagnosis of hereditary haemochromatosis. Ann Clin Biochem. 2020 Mar;57(2):192-193. doi: 10.1177/0004563219868253. Epub 2019 Aug 1. PMID: 31324120.

. Mohamed M, Phillips J. Hereditary haemochromatosis. BMJ. 2016 Jun 30;353:i3128. doi:

. 10.1136/bmj.i3128. PMID: 27365180.

How to Cite
Maymoona suhail, Asad Mahmood, Rafia Mahmood, & Sadia Ali. (2021). A Distinctive Case of Hereditary Haemochromatosis with Multiorgan Involvement in a Pakistani Male Harbouring H63D Mutation in the HFE Gene: A Case Report. International Journal of Applied Sciences: Current and Future Research Trends , 11(1), 67-71. Retrieved from https://ijascfrtjournal.isrra.org/index.php/Applied_Sciences_Journal/article/view/1150