Case Study: Iron Overload in a 53-Year-Old Male with HFE Heterozygous Mutation (January 2025)

Diogo Gomes, Advanced Nurse Practitioner, Haemochromatosis UK

This case report focuses on a 53-year-old caucasian man with a long-standing raised Serum Ferritin (SF) with no other identified causes. Genetic testing confirmed that he was heterozygous for the C282Y mutation. His laboratory results showed chronically elevated serum ferritin levels with a normal transferrin saturation (TSAT). Significant debilitating fatigue over the preceding 6 years, cognitive difficulties/ brain fog and mood swings and depression. To manage this and prevent the onset of further complications, the patient was recommended to commence a regimen of regular therapeutic phlebotomy following hepatology advice.

Although some existing literature suggests that HFE carriers do not load iron, this case demonstrates the importance of regularly monitoring TSAT and SF levels in C282Y carriers, as iron overload can be unpredictable due to various genetic and environmental factors. 

This case has shown that therapeutic phlebotomy, has likely played a key role in managing his health outcomes and improvement of his symptoms (fatigue and cognitive difficulties/brain fog).

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