Molecular spectrum of α‐thalassemia in the Iranian population of Hormozgan: Three novel point mutation defects

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 −α 3.7 (79.1%), −α 4.2 (1.7%), and α ‐5nt α alleles (4.3%), three novel nondeletional α‐thalassemia mutations were found; the α 2 cd19 (‐G) frameshift mutation (12.2%), the α 1 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 α 1 ‐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 α 2 cd19(‐G) mutation. Am. J. Hematol. 74:99–103, 2003. © 2003 Wiley‐Liss, Ins.