A Distinctive Case of Hereditary Haemochromatosis with Multiorgan Involvement in a Pakistani Male Harbouring H63D Mutation in the HFE Gene: A Case Report
Keywords:
Haemochromatosis, HFE gene, Transferrin saturation, Iron chelationAbstract
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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