A 25-year-old woman from the Mediterranean region has microcytic hypochromic anemia (Hb 8.5 g/dL, MCV 62 fL). Serum iron and TIBC are normal. Serum ferritin is normal. HbA2 is 5.8% on HPLC. Which diagnosis is confirmed?
- A Beta-thalassemia trait (heterozygous beta-thalassemia minor) ✓
- B Iron deficiency anemia
- C HbC trait
- D Sideroblastic anemia
Correct answer: A. Beta-thalassemia trait (heterozygous beta-thalassemia minor)
Explanation
Beta-thalassemia trait (minor) is characterized by mild microcytic hypochromic anemia, normal iron studies, and a raised HbA2 level of 3.5–7% on HPLC (normal HbA2 <3.5%). The elevated HbA2 (comprising delta-globin chains that compensate for reduced beta-globin production) is the diagnostic hallmark. MCV is disproportionately low relative to the mild degree of anemia (low MCV with nearly normal RBC count — high RBC count differentiates it from IDA). HbC trait shows HbC peak on HPLC. Iron deficiency has low serum ferritin and elevated TIBC.
Reference: Harrison's Principles of Internal Medicine, 21st ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.