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FRCPath Haem Part 1 MCQ-Gen Haem 395

A 19yr-old man presents with recurrent painful crises since childhood. Hb 78g/l and MCV 66fl.HPLC shows: HbS: 88%, HbF: 8%, HbA₂: 4.8% and HbA: 0%. Diagnosis?

  • Homozygous sickle cell disease

  • Sickle cell trait

  • HbSC disease

  • Sickle β⁺ thalassemia


 
 
 

1 Comment

adwaanhemay
an hour ago

Correct Answer: HbS/β⁰-thalassemia (Sickle beta-zero thalassemia)


Step 1: Look at HPLC

  • HbA: 0% → no normal adult haemoglobin, so homozygous or compound heterozygous

  • HbS 88% → predominantly sickle haemoglobin

  • HbF 8% → slightly elevated, common in sickle cell disease (adults usually 1–2%, so 8% is moderate persistence)

  • HbA₂ 4.8% → slightly high (normal 2–3.5%), suggesting coexisting β-thalassemia trait


Step 2: Correlate with clinical features

  • Recurrent painful crises since childhood → classic sickle cell disease phenotype

  • Microcytosis (MCV 66 fL) → points toward coexisting β-thalassemia


Step 3: Interpretation

  • HbS 88%, HbA 0% → no normal HbA, so not trait (heterozygous)

  • HbA₂ 4.8% → suggests β⁰-thalassemia trait

  • Therefore, this is HbS/β⁰-thalassemia

  • In HbS/β⁰-thalassemia:

    • Clinically resembles sickle cell disease

    • HPLC shows no HbA, high HbS, elevated HbA₂, some HbF


✅ Diagnosis:

HbS/β⁰-thalassemia (Sickle…

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