A 25-year-old woman of Mediterranean origin presents with mild anaemia (Hb 10 g/dL), splenomegaly, and jaundice. Her MCV is 65 fL and MCH is 20 pg. HPLC shows HbA2 of 5.8% (normal < 3.5%). Serum ferritin is 120 ng/mL. The diagnosis and the key counselling point are:

• A Iron deficiency anaemia — replete iron before pregnancy
• B HbE trait — no treatment required as usually asymptomatic
• C Beta-thalassaemia trait (heterozygous) — patient should be counselled for partner screening before pregnancy ✓
• D Alpha-thalassaemia minor — HPLC is normal, diagnose by DNA analysis

Explanation

Beta-thalassaemia trait is characterised by microcytic hypochromic anaemia with elevated HbA2 (>3.5%) and HbF on HPLC, with normal ferritin ruling out iron deficiency. The most crucial clinical issue is genetic counselling: if both partners carry beta-thalassaemia trait, there is a 25% risk of homozygous beta-thalassaemia major in offspring. Prenatal diagnosis and partner screening are mandatory. Iron supplementation is not indicated as stores are adequate.

Reference: Harrison's Principles of Internal Medicine, 21st ed.

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Written and medically reviewed by the StethoPrep medical team.