IDENTIFICATION OF 2 NOVEL BETA-DEGREES-THALASSEMIA MUTATIONS IN A FILIPINO FAMILY - FRAMESHIFT CODON 67 (-TG) AND A BETA-DEGREES-GLOBIN GENE DELETION

The frequency of beta-thalassemia alleles among Filipinos is estimated to be 0.02, although little is known about the actual mutations repre sented in this population. Here, we describe a Filipino family in whic h a child has severe beta-thalassemia major. Molecular studies of the family revealed that the proband is a compound heterozygote for two pr eviously unreported beta-degrees-thalassemia alleles: a frameshift mut ation (-TG) at codon 67 and a deletion of the entire beta-globin gene. The 5' endpoint of this novel deletion is located approximately 3.9 k b to approximately 4.3 kb upstream of beta-globin gene, and the deleti on extends 3'-beyond the beta-globin gene for an undetermined distance . The occurrence of two novel beta-thalassemia alleles in a single fam ily suggests that the Filipino population may have a unique spectrum o f beta-thalassemia alleles. (C) 1993 Wiley-Liss, Inc.