A PCR-BASED STRATEGY TO DETECT THE COMMON SEVERE DETERMINANTS OF ALPHA-THALASSEMIA

A rapid and inexpensive polymerase chain reaction (PCR) based strategy is described which detects the three common, severe alpha-thalassaemia determinants observed in southeast Asia (--SEA) and the Mediterranean (--MED and -(alpha)20.5). Oligonucleotide primers have been chosen which allow specific identification of both normal (alpha-alpha) and abnormal (--) chromosomes using identical conditions in either the same or parallel PCR reactions. This strategy should be useful in the development of screening programmes to identify carriers of alpha-thalassaemia (--/alpha-alpha) and prenatal diagnosis of the Hb Bart's hydrops fetalis syndrome (--/--) for those populations in which this represents a major cause of perinatal death.