Cert Clin Haematology(SA) Paed Practice Questions - CMSA Sub-specialty Certificate In Clinical Haematology (Paediatrics) Exam

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An 8-month-old infant presents with progressive pallor, failure to thrive, hepatosplenomegaly, and severe microcytic hypochromic anaemia (Hb 4.8 g/dL, MCV 54 fL). Hemoglobin analysis reveals HbF 94%, HbA2 4.5%, and HbA 0%. What is the underlying genetic condition?
Correct Answer:
Beta-Thalassemia Major (β0/β0)

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