RAPID MIDTRIMESTER PRENATAL-DIAGNOSIS OF BETA-THALASSEMIA AND OTHER HEMOGLOBINOPATHIES USING A NONRADIOACTIVE ANION-EXCHANGE HPLC TECHNIQUE- AN INDIAN EXPERIENCE

Anion exchange high performance liquid chromatography (AX-HPLC) has be en widely used for separating and quantifying various haemoglobin frac tions especially in the haemoglobinopathies. We have evaluated the rel iability of this technique to measure low concentrations of adult haem oglobin (HbA) in fetal blood to enable differentiation between affecte d and unaffected fetuses at risk for beta-thalassaemia (85) and other haemoglobinopathies such as delta beta/beta-thalassaemia (1), E-beta-t halassaemia (2), S-beta-thalassaemia (1), and sickle cell anaemia (1). The HbA values obtained ranged between 0 and 9.51 per cent. The HbA f or 27 affected fetuses was 0 per cent, while two showed a HbA value of 0.5 per cent. The mean HbA for 61 unaffected fetuses was 4.8 +/- 2.08 per cent. Thirty cord blood samples (cord abortus in cases of affecte d fetuses and cord full term in cases of unaffected fetuses) were anal ysed to reconfirm the diagnosis. Ten babies between 8 and 18 months of age could be followed up for confirmation. AX-HPLC was found to be a simple and rapid procedure with high sensitivity and there was a good correlation between the HbA values obtained by AX-HPLC and the diagnos is by carboxymethyl cellulose (CMC) chromatography. (C) 1997 by John W iley & Sons, Ltd.