Hereditary hemochromatosis
Genetic iron-overload disease. Iron gradually accumulates over decades and damages liver, heart and pancreas. Highly treatable if caught before organ damage — bloodletting (phlebotomy) is the mainstay.
What it is
Hereditary hemochromatosis is a genetic disorder (most commonly C282Y homozygous in the HFE gene) in which the small bowel absorbs about three times more dietary iron than it should. Excess iron accumulates over decades in liver, pancreas, heart, joints and skin. Untreated, it causes cirrhosis, hepatocellular carcinoma, diabetes ('bronze diabetes'), cardiomyopathy and arthritis. Penetrance is incomplete — many genetic carriers never develop overt disease — but the carrier frequency in Northern European populations is roughly 1 in 200, making it one of the commonest inherited diseases. Early identification + therapeutic phlebotomy completely prevents the morbidity.
Key lab markers
- Transferrin saturation (TSAT = serum iron / TIBC × 100) — the screening test; values >45% in men or >40% in women warrant follow-up.
- Ferritin — rises with body iron stores; >300 ng/mL in men or >200 ng/mL in women alongside elevated TSAT raises suspicion strongly.
- HFE genetic test (C282Y, H63D) — confirms the diagnosis genetically.
- Liver enzymes (ALT, AST, GGT) — may rise from iron-driven hepatic injury.
- Glucose, HbA1c — screen for the diabetes component.
Symptoms
Usually silent for decades; classical presentation in middle age:
- Chronic fatigue
- Joint pain (especially the second and third metacarpophalangeal joints — 'iron fist')
- Loss of libido, erectile dysfunction
- Bronze or grey skin pigmentation (late finding)
- Abdominal pain
- Symptoms of diabetes (thirst, frequent urination)
- Heart failure, arrhythmia (late)
- Liver cirrhosis (late)
When to discuss with a doctor
Persistent TSAT >45% with elevated ferritin warrants evaluation by a primary-care doctor; HFE genetic testing confirms or excludes the diagnosis. Treatment is straightforward — therapeutic phlebotomy weekly until iron is depleted, then maintenance every few months — and prevents virtually all complications when started before cirrhosis develops. First-degree relatives should be screened. Mediora.AI flags the iron-panel pattern; treatment belongs with a clinician.