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

Abstract

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. 

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Published
2021-10-21
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
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