PCR-based diagnosis of the Filipino (--FIL) and Thai (--THAI) -thalassemia-1 deletions

In southeast Asia, the carrier frequency of two-gene -thalassemia deletions is quite high, ranging from 4% to 14% depending on the population. The most common -thalassemia-1 deletion is the so-called southeast Asian deletion (--SEA). In addition, a significant proportion of cases involve two other deletions, the Filipino (--FIL) and Thai (--THAI) deletions. In this report, we identify the deletion breakpoints for the (--FIL) and (--THAI) deletions, and describe PCR-based protocols for rapid and reliable DNA diagnosis of these deletions. Am. J. Hematol. 63:54-56, 2000.