Haemochromatosis & Disorders of Iron Metabolism: GP Guide

Haemochromatosis is a systemic disorder of excessive iron absorption from the gut → progressive iron overload → iron deposition in organs (liver, heart, pancreas, joints, skin) → risk of irreversible damage if untreated.

Among the most common genetic disorders in people of Northern European ancestry.
Primary care relevance: Often asymptomatic early; picked up via ↑ ferritin or LFTs, or family screening.

Type	Cause	Key Features
Primary (Hereditary)	HFE gene mutations (esp. C282Y homozygosity)	Autosomal recessive; ↑ intestinal iron absorption
Secondary	Chronic transfusions, haemolytic anaemia, liver disease, iron-loading anaemias (e.g. thalassaemia major)	Acquired iron overload from exogenous or pathological sources
Other iron disorders (DDx)	Iron deficiency anaemia, anaemia of chronic disease, sideroblastic anaemia	Varying iron studies; distinguish via transferrin saturation & ferritin pattern

Clinical Presentation of Haemochromatosis

Onset: usually adulthood, often asymptomatic for years
Early symptoms: nonspecific & insidious → delayed diagnosis
Higher penetrance in men; women often present post-menopause (due to loss of menstrual iron)

🧩 Common Symptoms (early/nonspecific)

Fatigue, weakness (most common, ~70%)
Joint pain/arthritis (esp. MCP joints, ankles, knees; ~80%)
Abdominal pain (liver discomfort)
Mood & cognition: depression, brain fog, memory issues (~40–60%)
Skin changes: hyperpigmentation/bronze or grey tone (“bronze diabetes”, ~70%)
Sexual dysfunction...

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