Identification of Two Novel P"-Thalassemia Mutations in a Filipino Family: Frameshift

The frequency of P-thalassemia alleles among Filipinos is estimated to be 0.02, although little is known about the actual mutations represented in this population. Here, we describe a Filipino family in which a child has severe P-thalassemia major. Molecular studies of the family revealed that the proband is a compound heterozygote for two previously unreported Po-thalassemia alleles: a frameshift mutation (-TG) at codon 67 and a deletion of the entire P-globin gene. The 5’ endpoint of this novel deletion is located -3.9 kb to -4.3 kb upstream of P-globin gene, and the deletion extends 3‘ beyond the P-globin gene for an undetermined distance. The occurrence of two novel P-thalassemia alleles in a single family suggests that the Filipino population may have a unique spectrum of P-thalassemia alleles. 0 1993 Wiley-Liss, Inc.