Antenatal diagnosis of haemoglobinopathies by improved method of isoelectric focusing of haemoglobins

An improved method of isoelectric focusing (IEF) of haemoglobins, utilizing a spacer molecule to increase the separation between HbA and acetylated HbF, was carried out in parallel with carboxymethylcellulose (CMC) chromatography in 85 antenatal diagnoses for haemoglobinopathies (mainly thalassaemia). In 19 of 21 affected fetuses no HbA band was detectable on IEF while in two a very faint band was observed; in heterozygotes or normal fetuses a more obvious HbA band was present. Moreover, IEF was useful for the demonstration of HbLepore in two cases at risk for β thalassaemia/HbLepore and for interpreting a radioactive pre-β globin on peak CMC chromatography. Pure fetal blood is needed for IEF. It can therefore be used for most cases in centres using fetoscopy for fetal blood sampling. About 80% of antenatal diagnosis of haemoglobinopathies may be carried out by IEF which is a very simple, rapid and inexpensive method.