A 30-year-old man is found to have a microcytic, hypochromic anaemia with haemoglobin 9.2 g/dL. Serum ferritin is 560 µg/L and transferrin saturation is 72%. Peripheral smear shows target cells. HPLC reveals HbA2 3.8%, HbF 2.1%, HbA 94.1%. Family history is positive for anaemia. What is the most likely diagnosis?
- A Thalassaemia intermedia (beta-thalassaemia with mildly elevated HbA2 and iron loading) ✓
- B Iron deficiency anaemia
- C Sideroblastic anaemia
- D Alpha-thalassaemia trait (silent carrier with two alpha deletions)
Explanation
This patient has microcytic anaemia with iron overload (high ferritin and transferrin saturation), target cells, mildly elevated HbA2 (3.8%) consistent with beta-thalassaemia trait-range, and a family history — together with a degree of anaemia (Hb 9.2) and iron loading suggesting thalassaemia intermedia (non-transfusion-dependent beta-thalassaemia). Iron deficiency would produce low ferritin and transferrin saturation. Sideroblastic anaemia shows ring sideroblasts. Alpha-thalassaemia trait shows normal HbA2 and HPLC; silent carrier (two-alpha deletion) rarely produces significant anaemia. The iron loading in thalassaemia intermedia results from increased iron absorption due to chronic ineffective erythropoiesis and hepcidin suppression.
Reference: Harrison's Principles of Internal Medicine, 21st ed.
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