MBBS OSCE · haematology
OSCE — Hereditary Haemochromatosis
Eight-minute OSCE station on Hereditary Haemochromatosis: focused history, examination priorities, investigations, emergency and definitive management.
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Brief (to candidate)
You will assess a patient with a presentation consistent with Hereditary Haemochromatosis.
You have 8 minutes to take a focused history, outline examination, investigations, and management including red flags.
Clinical context
Hereditary haemochromatosis (HH) is an autosomal recessive disorder of iron homeostasis causing inappropriate, unregulated intestinal iron absorption that progressively deposits in parenchymal organs — liver (cirrhosis, hepatocellular carcinoma), pancreas (diabetes), heart (cardiomyopathy, arrhythmia), skin (bronzing), joints (arthropathy), pituitary and gonads (hypogonadism). The commonest cause is homozygous C282Y mutation in the HFE gene on chromosome 6p (Type 1). Screen with transferrin saturation over 45 percent and serum ferritin; confirm with HFE genetic testing. Cornerstone treatment is therapeutic venesection (phlebotomy) to target ferritin 50 to 100 micrograms per litre, with iron
Candidate tasks
- Clarify onset, severity, associated features, and red-flag symptoms.
- State focused examination priorities.
- List first-line investigations and any named score/criteria.
- Give immediate resuscitation steps.
- Outline definitive management with doses/routes where standard.
- Name complications and disposition (ward / HDU / theatre / discharge safety-net).
- Mention one special-population modifier (pregnancy, child, elderly, CKD).
Examiner checklist
| Domain | Pass behaviours |
|---|---|
| Definition | Correct working diagnosis language |
| Assessment | Focused, prioritised, red flags sought |
| Investigations | Appropriate first-line + interpretation |
| Emergency care | ABC / time-critical actions first |
| Definitive care | Specific drugs/procedures, not generic phrases |
| Safety | Transferrin saturation over 45 percent with ferritin over 300 (men) or 200 (wome |
| Safety | C282Y homozygote with ferritin over 1000 micrograms per litre or elevated ALT — |
| Safety | Established cirrhosis from HH — hepatocellular carcinoma surveillance with 6-mon |
| Communication | Clear plan and safety-netting |
Model outline
Lead with the working diagnosis and life threats. Resuscitate before definitive tests when unstable. Use guideline-standard therapy with named agents and doses. Document escalation criteria and follow-up. A safe candidate is specific, structured, and never delays critical care for non-urgent imaging.