Endocrine & metabolic · UKMLA & AKT
Haemochromatosis
A free high-yield preview for the UKMLA Applied Knowledge Test, covering how to recognise this condition. The full SA Note notes add investigations, management and complications, with practice questions on this topic.
Key high-yield points
- Autosomal recessive disorder of iron overload - most common genetic disorder in Northern European descent (~1 in 200)
- Caused by HFE gene mutation (chromosome 6) - most commonly C282Y homozygosity
- Mechanism: HFE mutation → reduced hepcidin → ferroportin remains active → unregulated duodenal iron absorption → progressive organ iron deposition
- Men present earlier/more severely; pre-menopausal women protected by menstrual iron loss
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