FILIPINO BETA-THALASSEMIA DUE TO A LARGE DELETION - IDENTIFICATION OFTHE DELETION END-POINTS AND POLYMERASE CHAIN-REACTION (PCR)-BASED DIAGNOSIS

The gene frequency of beta-thalassemia among Filipinos is estimated to be 0.02, although little is known about the mutations involved. Recen tly, an extensive beta-thalassemia deletion was reported in several un related individuals of Filipino descent. The deletion begins approxima tely 4 kb upstream of the beta-globin gene, and extends 3' beyond the beta-globin gene. In this report, we identify the 5' and 3' deletion e ndpoints and present a polymerase chain reaction (PCR) strategy for ra pid DNA diagnosis of the Filipino beta-thalassemia deletion.