Molecular spectrum of α-thalassemia in the Iranian population of hormozgan: Three novel point mutation defects

Abstract

We describe the molecular spectrum of α-thalassemia mutations in a population sample of newborns in the South-Iranian province of Hormozgan. Out of 660 randomly collected blood samples 218 (33%) had visibly elevated Hb Bart's. DNA was extracted from 78 samples out of this selection (n = 156), of which 114 alleles were found to carry an α-thalassemia defect. Besides the common -α3.7 (79.1%), -α4.2 (1.7%), and α-5nt α alleles (4.3%), three novel nondeletional α-thalassemia mutations were found; the α2 cd19 (-G) frameshift mutation (12.2%), the α1 IVS1-148(A→G) (0.9%) affecting the splice acceptor site consensus sequence and the cd14 (TGG→TAG) (0.9%), which creates a premature stop codon in the first exon of the α1-gene. A fourth mutation in the α 1-gene, the IVS1-38 (C→T) (0.9%) of undetermined effect, was found in an individual heterozygous for the α2 cd19(-G) mutation. © 2003 Wiley-Liss, Inc.