Endocrine & metabolic · UKMLA & AKT
Haemochromatosis
A free high-yield preview for the UKMLA Applied Knowledge Test. Below are the key points to recognise haemochromatosis — the full SA Note notes add investigations, management, complications and 10 practice questions.
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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