title: Molecular spectrum of alpha-thalassemia in the Iranian population of Hormozgan: three novel point mutation defects.
abstract: We describe the molecular spectrum of alpha-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 alpha-thalassemia defect. Besides the common -alpha3.7 (79.1%), -alpha4.2 (1.7%), and alpha-5nt alpha alleles (4.3%), three novel nondeletional alpha-thalassemia mutations were found; the alpha2 cd19 (-G) frameshift mutation (12.2%), the alpha1 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 alpha1-gene. A fourth mutation in the alpha1-gene, the IVS1-38 (C-->T) (0.9%) of undetermined effect, was found in an individual heterozygous for the alpha2 cd19(-G) mutation.
mesh_terms: D000483:Alleles; D001483:Base Sequence / Q000235:genetics; D018388:Codon, Terminator; D016384:Consensus Sequence; D005091:Exons; D016368:Frameshift Mutation; D020440:Gene Duplication; D005838:Genotype; D005914:Globins / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000032:analysis; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D007492:Iran; D008969:Molecular Sequence Data; D017354:Point Mutation; D017085:alpha-Thalassemia / Q000097:blood / Q000235:genetics*
chemical_list: D018388:Codon, Terminator; D006455:Hemoglobins, Abnormal; D005914:Globins; C030448:hemoglobin Bart's