MBBS OSCE · General Medicine
OSCE — Thalassaemia (Alpha & Beta)
Eight-minute OSCE station on Thalassaemia (Alpha & Beta): focused history, examination priorities, investigations, emergency and definitive management.
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Brief (to candidate)
You will assess a 9-month-old infant with pallor, failure to thrive and hepatosplenomegaly, consistent with beta-thalassaemia major. You have 8 minutes to take a focused history, outline examination, investigations, and management including red flags.
Clinical context
Thalassaemia is an inherited quantitative globin-chain defect causing microcytic hypochromic anaemia. Beta-thalassaemia major presents between six and 24 months (GeneReviews) / the second six months of life (Muncie) with pallor, poor growth, jaundice and hepatosplenomegaly. Trait is asymptomatic microcytosis with a high RBC count, normal iron, and HbA2 greater than 3.5%. Alpha-thalassaemia trait has a normal electrophoresis. Four-gene alpha deletion causes Hb Bart hydrops fetalis, usually fatal. Iron-overload heart failure is the leading cause of death in transfusion-dependent disease (Pennell).
Candidate tasks
- Clarify onset (six to 24 months), ancestry, family history, consanguinity, and feeding/growth.
- Examine for pallor, jaundice, frontal bossing, hepatosplenomegaly, and high-output flow murmur.
- First-line tests: FBC and film, iron studies, HPLC/electrophoresis; DNA testing if alpha-thal trait is suspected; Mentzer index (MCV/RBC) <13 supports trait vs iron deficiency.
- If the infant is severely anaemic, transfuse cautiously (chronic anaemia physiology).
- Definitive care: regular transfusion (Hb >9.5 g/dL / 9.5–10.5 g/dL) plus chelation (DFX 20–40 or DFP 75–100 mg/kg/day), T2-star surveillance, and HSCT counselling if a matched sibling exists.
- Name iron-overload cardiomyopathy (T2* <10 ms) and OPSI after splenectomy as life threats.
- India modifier: ISHBT — millions of carriers and over 12,000 affected births annually; Agarwal antenatal HPLC 6.8% carriers (2,268/33,270).
Examiner checklist
| Domain | Pass behaviours |
|---|---|
| Definition | Beta-thalassaemia major (Cooley); gene-dose language for alpha vs beta |
| Assessment | Infancy onset, bony facies, hepatosplenomegaly, ancestry/family history |
| Investigations | HPLC (raised HbF, absent HbA); iron studies; Mentzer <13 for trait vs IDA; DNA if electrophoresis normal |
| Emergency care | Cautious transfusion in decompensated anaemia; OPSI = cultures then parenteral antibiotics |
| Definitive care | Transfusion Hb >9.5 g/dL; DFX 20–40 or DFP 75–100 mg/kg/day; T2-star <10 ms intensifies chelation |
| Safety | Do not give iron to trait; fever after splenectomy is an emergency |
| Communication | Prenatal diagnosis / partner screening; HSCT DFS >90% in low-risk children; beti-cel 20/22 TI |
Model outline
This is beta-thalassaemia major until HPLC says otherwise. Confirm with electrophoresis (HbF dominant, HbA absent) and start a regular transfusion programme targeting Hb higher than 9.5 g/dL, then mandatory chelation once iron accumulates (EPIC start deferasirox 20 mg/kg/day on 2–4 units/month). Surveillance is cardiac T2-star, not ferritin alone. Offer genetic counselling and, if a matched sibling exists, HSCT (GeneReviews DFS greater than 90% without pretransplant hepatomegaly/fibrosis/heavy iron). Do not treat coincidental microcytosis in relatives with iron until ferritin is low.