A 3-year-old child presents with pallor, jaundice, and splenomegaly. Blood film shows target cells, microcytes, and nucleated RBCs. Hb is 5.8 g/dL. HbA2 is 5.5% on HPLC. The father has HbA2 of 4.2%. What is the DIAGNOSIS in the child?
- A Thalassemia trait
- B HbE disease
- C Beta-thalassemia major ✓
- D Sickle cell anemia
Correct answer: C. Beta-thalassemia major
Explanation
Beta-thalassemia major (Cooley anemia) results from homozygous or compound heterozygous mutations in the beta-globin gene, causing severe transfusion-dependent hemolytic anemia presenting in the first 2 years of life. Elevated HbA2 (>3.5%) is the hallmark of beta-thalassemia. In thalassemia major, most Hb is HbF; HbA is absent or minimal. The father's elevated HbA2 indicates thalassemia trait. Management requires regular transfusions, chelation therapy, and consideration for stem cell transplantation.
Reference: Ghai Essential Pediatrics, 10th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.