📋 MOCK OSCE · FCPS, MCPS, MD PAEDIATRICS ⏱ 10 min · THALASSAEMIA

Thalassaemia · Microcytic Anaemia

Candidate task: perform focused examination on a child with suspected thalassaemia major / intermedia.
Then discuss differential diagnosis, investigations, management & follow‑up.
Pre‑exam Protocol
⏤ · Wash, Warm, Introduce, Position, Expose, Approach ▾

Standard pre‑examination protocol – must be demonstrated:

🖐 Wash hands with sterilizing solution.
🔥 Warm hands and stethoscope.
👋 Introduce yourself to child & parent.
🧍 Position child: supine, sitting, then left lateral (for spleen palpation).
👕 Exposure — chest, abdomen, limbs; warm environment.
➡️ Approach from the right side.
✔ CPSP marker: Pre‑exam Protocol is observed and scored.
1. Clinical Examination (≈6 min)
02 General Look (Inspection from end of bed) ▾

Key observations:

  • Colour: pallor (anaemia), jaundice (haemolysis), sallow complexion.
  • Facial features: frontal bossing, maxillary overgrowth, depressed nasal bridge – “thalassaemic facies”.
  • Respiratory rate: tachypnoea if severe anaemia or heart failure.
  • Nutritional status: failure to thrive (chronic anaemia).
  • Abdominal: distension (hepatosplenomegaly).
  • Activity: lethargy, exercise intolerance.
👁 Red flags: severe pallor + frontal bossing + hepatosplenomegaly + microcytic anaemia → thalassaemia major.
03 Systemic Haematological Examination ▾

Focused examination:

  • Skin: pallor, icterus, hyperpigmentation (iron overload), leg ulcers (chronic).
  • Lymph nodes: lymphadenopathy (uncommon; if present → consider other diagnosis).
  • Abdomen: splenomegaly (massive in β‑thalassaemia major), hepatomegaly (extramedullary haematopoiesis, iron overload).
  • Skeletal: frontal bossing, maxillary hyperplasia, prominent cheekbones, dental malocclusion.
  • Cardiovascular: flow murmur (anaemia), signs of heart failure (if severe).
  • Endocrine: short stature, delayed puberty (iron overload).
🔍 Key: pallor + jaundice + massive splenomegaly + bone changes → thalassaemia major.
04 General Physical Exam (Hands → Face → Chest → Limbs) ▾

Systematic examination:

  • Hands: pallor, clubbing (if cyanotic heart disease), koilonychia (iron deficiency – but thalassaemia usually has elevated ferritin).
  • Face: conjunctival pallor, scleral icterus, frontal bossing, maxillary hyperplasia.
  • Chest: cardiac murmurs (flow murmur), signs of heart failure.
  • Pulses: normal volume; may be bounding if anaemia.
  • Blood pressure: usually normal.
  • Abdomen: hepatosplenomegaly – firm, non‑tender spleen (may extend to pelvis).
  • Lower limbs: oedema (heart failure), leg ulcers.
📏 Anthropometry: weight, length – plot growth; short stature is common.
05 Developmental Assessment & Associated Signs ▾

Assess:

  • Motor milestones: may be delayed (chronic anaemia, iron overload).
  • Growth: failure to thrive; short stature (endocrine dysfunction).
  • Pubertal development: delayed or absent (iron overload → hypogonadism).
  • Bone changes: facial dysmorphism, pathological fractures (osteopenia).
  • Skin: hyperpigmentation (iron overload), leg ulcers.
  • Endocrine: diabetes mellitus (iron overload → pancreatic damage).
🧠 Key: thalassaemia major is a multisystem disease – monitor growth, puberty, and endocrine function.

📋 Case Presentation – (fill in during exam)

This is a _____-year-old child, referred for _____ (pallor / poor weight gain / jaundice). On examination, the child appears _____ (pale / icteric / lethargic), with _____ (frontal bossing / maxillary hyperplasia). Abdominal examination: spleen palpable _____ cm below costal margin, liver _____ cm. Cardiovascular: flow murmur _____. Growth: weight _____ percentile, height _____ percentile. Associated signs: _____ (short stature / delayed puberty / skin hyperpigmentation).

2. Viva Discussion (≈4 min)
06 Viva · Differential, Investigations, Management, Follow‑up ▾
🔹 Differential Diagnosis

• β‑thalassaemia major (Cooley anaemia)
• β‑thalassaemia intermedia
• α‑thalassaemia (HbH disease, Bart's hydrops)
• Iron deficiency anaemia (microcytic, low ferritin)
• Sideroblastic anaemia
• Anaemia of chronic disease
• Lead poisoning (microcytic, basophilic stippling)
• HbE / HbC disease
• Myelodysplastic syndromes (rare)

🔹 Investigations – Diagnosis

• Complete blood count: Hb ↓, MCV ↓, MCH ↓, RDW ↑ (thalassaemia: normal or ↑).
• Peripheral smear: microcytes, hypochromia, target cells, basophilic stippling.
• Hb electrophoresis: HbF ↑, HbA₂ ↑ (β‑thal trait), HbA ↓.
• Serum ferritin: normal or ↑ (thalassaemia), ↓ in iron deficiency.
• Iron studies: serum iron, TIBC, transferrin saturation.
• Genetic testing: for β‑globin gene mutations.

🔹 Investigations – Aetiology

• Family history: parental screening (thalassaemia trait).
• Parental CBC & Hb electrophoresis: to confirm carrier status.
• Prenatal diagnosis: CVS or amniocentesis (if at risk).
• Genetic counselling: for family planning.

🔹 Investigations – Exclude Others

• Ferritin & iron studies: to rule out iron deficiency.
• Hb electrophoresis: to rule out HbE, HbC, sickle cell.
• Bone marrow: if sideroblastic anaemia or aplasia suspected.
• Lead levels: if lead poisoning suspected.

🔹 Investigations – Rule Out Complications

• MRI T2* (liver, heart): iron overload (transfusional hemosiderosis).
• Serum ferritin (trend): monitor iron burden.
• Echocardiography: cardiac function (iron overload cardiomyopathy).
• Liver function tests: hepatic iron overload.
• Endocrine screen: glucose, thyroid, gonadal, growth hormone.
• Bone density: DEXA scan (osteopenia).

🔹 Management – Across Organ Systems

Anaemia / Transfusion

Regular packed red cell transfusions (every 3‑4 weeks) to maintain Hb >9‑10 g/dL.

Iron Chelation

Deferasirox (oral) or deferoxamine (SC) to prevent iron overload.

Heart (Cardiac)

Monitor cardiac iron (MRI T2*); treat heart failure if present; ACE inhibitors if LV dysfunction.

Endocrine

Monitor growth, puberty, thyroid, glucose; hormone replacement if needed.

Bone / Skeletal

Calcium + vitamin D; bisphosphonates if osteopenia; orthodontic care.

Folic Acid

Supplementation (1 mg daily) to support erythropoiesis.

Splenectomy

Consider if hypersplenism (increasing transfusion requirements) – after age 5‑6 years.

Hematopoietic Stem Cell Transplant (HSCT)

Curative option (especially in children with HLA‑matched sibling).

Gene Therapy

Emerging option; lentiviral β‑globin gene addition.

Immunisation

Pneumococcal, meningococcal, Hib, influenza; hepatitis B (if transfused).

📈 Prognosis

  • Thalassaemia major (transfused & chelated): survival into 40s‑50s.
  • Thalassaemia intermedia: variable; may survive without transfusions, but risk of iron overload, thrombosis, PAH.
  • HSCT: disease‑free survival >80% (with matched sibling).
  • Iron overload: leading cause of morbidity (cardiac, endocrine).
  • Gene therapy: promising early results; transfusion independence achieved.

📋 Follow‑up Schedule

  • Monthly: CBC, ferritin (if on chelation).
  • Every 3‑6 months: growth, puberty, development, physical exam.
  • Annual: cardiac MRI (T2*), liver MRI, echocardiography.
  • Annual: endocrine screen (thyroid, glucose, gonadal).
  • Bone density: DEXA every 2‑3 years (if at risk).
  • Ophthalmology & audiology: annually if on deferoxamine.
💡 Examiner expectation: systematic differential (thalassaemia vs iron deficiency vs other microcytic anaemias), appropriate investigations (CBC, iron studies, Hb electrophoresis, ferritin), and comprehensive management (transfusion, chelation, HSCT, organ‑specific monitoring). Understand the role of prenatal diagnosis and genetic counselling.
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Mock OSCE · Thalassaemia · Based on Wyne‑Harris, Nelson & Paediatric Haematology