Identification of two novel β°‐thalassemia mutations in a filipino family: Frameshift codon 67 (− TG) and a β‐globin gene deletion

The frequency of β‐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 β‐thalassemia major. Molecular studies of the family revealed that the proband is a compound heterozygote for two previously unreported β°‐thalassemia alleles: a frameshift mutation ( − TG) at codon 67 and a deletion of the entire β‐globin gene. The 5′ endpoint of this novel deletion is located ∼3.9 kb to ∼4.3 kb upstream of β‐globin gene, and the deletion extends 3′ beyond the β‐globin gene for an undetermined distance. The occurrence of two novel β‐thalassemia alleles in a single family suggests that the Filipino population may have a unique spectrum of β‐thalassemia alleles. © 1993 Wiley‐Liss, Inc.