Diagnosis of thalassaemias and haemoglobinopathies by HPLC (high performance liquid chromatography): study of 627 patients

Red cell haemolysates of 627 patients with mainly microcytic anaemia were s ubjected to HPLC for diagnosis of thalassaemia (thal) or haemoglobinopathy during 1998. Thalassaemia was diagnosed in 16.3% (95 beta-thal minor, 1 bet a-thal major, 2 delta beta-thal heterozygote, 4 alpha-thal(1)), haemoglobin opathies in 3.5% (10 Hb S including 3 Hb S-alpha-thal, 1 homozygote, 1 Hb S C and 1 Hb SE; 6 Hb E including 3 homozygotes; 3 Hb Lepore heterozygotes; 1 Hb K; 1 Hb O-Arab*; 1 Hb K-Ibadan* [* = confirmed by DNA sequencing]). In 10.7% of patients severe iron-deficiency (ferritin <7 mu g/l) was the cause of microcytosis (MCV 72.1 +/- 2.6 fl) and anaemia (Hb 97.2 +/- 9.8 g/l). T he beta-thal minor group showed prominent microcytosis (MCV 66.9 +/- 2.6 fl ) but only mild anaemia (I-Ib 114.1 +/- 12.9 gf). Variant Hb K-Ibadan und H la O-Arab were found during quantification of HbA(1c). Patients with beta-t hal minor or severe iron-deficiency anaemia were identified with equal freq uency in adult females, children and adolescents of both sexes; however, in adult males beta-thal minor was the most frequent aetiology (>90%) of micr ocytic anaemia. Our results demonstrate the diagnostic value of red cell ly sate HPLC and ferritin determination when evaluating unclear microcytic ana emia. This approach, together with die HbA(1c)-quantification by HPLC, will render possible detailed diagnosis of thalassaemia and haemoglobinopathies .