A 3-year-old child from Southeast Asia presents with severe anemia, hepatosplenomegaly, and skull X-ray showing 'hair-on-end' appearance. Hemoglobin electrophoresis shows predominant HbF with absent HbA. This is consistent with which condition?
- A Sickle cell anemia (HbSS)
- B HbH disease (alpha-thalassemia with 3 gene deletions)
- C Beta-thalassemia major (homozygous beta0-thalassemia) ✓
- D Hemoglobin E disease
Correct answer: C. Beta-thalassemia major (homozygous beta0-thalassemia)
Explanation
Beta-thalassemia major (Cooley's anemia) results from homozygous beta0-thalassemia mutations, causing complete absence of beta-globin chains. Excess alpha chains precipitate and destroy erythroid precursors (ineffective erythropoiesis). Compensatory erythropoiesis causes hepatosplenomegaly and marrow expansion with the classic 'hair-on-end' skull X-ray. Hemoglobin electrophoresis shows predominantly HbF with absent HbA.
Reference: Robbins & Cotran Pathologic Basis of Disease, 10th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.