Results from a reference laboratory for prenatal diagnosis of sickle cell disorders in Cuba

A nationwide programme for the prevention of sickle cell (SS and SC) disorders was initiated in Cuba in 1983. Couples at risk were identified by screening pregnant women and the partners of those who carry an abnormal haemoglobin, followed by genetic counselling and the offer of prenatal diagnosis. Prenatal diagnosis was performed in one laboratory, which had carried out 1068 prenatal tests for Hb SS and SC disorders by the end of 1992. The centralization of the service has permitted rapid identification and resolution of problems.     

Prenatal diagnosis of haemoglobinopathies by ion exchange hplc of haemoglobins

A new method, the cation exchange HPLC of haemoglobins, has been compared to the classical carboxymethyl cellulose (CMC) chromatography of globin chains for the prenatal diagnosis of beta thalassaemia and sickle cell disease. The two methods correlated highly. The HPLC procedure can use two independent and reliable means—optical density at 405 nm and radioactivity to determine the adult Hb/HbF + Fac ratio. The diagnosis is obtained in 15 mm by cation exchange HPLC.