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

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A 12-month-old infant of African descent undergoes screening for hemoglobinopathy. High-performance liquid chromatography (HPLC) reveals HbA 0%, HbS 88%, HbF 9%, and HbA2 3.0%. Both parents are confirmed carriers of the sickle cell trait (HbAS). Which diagnosis is most consistent with these laboratory findings?

Sickle Hereditary Persistence of Fetal Hemoglobin (HbS/HPFH) Sickle Cell Trait (HbAS) Sickle Beta-Plus Thalassemia (HbS/β+) Homozygous Sickle Cell Anaemia (HbSS)

Correct Answer:

Homozygous Sickle Cell Anaemia (HbSS)

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