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In a previous study, we described a form of nondeletion alpha-thalassemia (alpha T Saudi alpha) found in subjects of Saudi Arabian origin. In the current study, using synthetic oligoprobe hybridization and restriction enzyme analysis, we have demonstrated that the molecular basis of alpha T Saudi alpha is due solely to a single base mutation (AATAAA----AATAAG) in the polyadenylation signal of the alpha 2 gene and that the frameshift mutation in codon 14 of the linked alpha 1 gene is the result of a cloning artefact. The alpha 2 polyadenylation signal mutation occurs in other Middle Eastern and the Mediterranean populations and is responsible for the clinical phenotype of Hb H disease in some Saudi Arabian individuals with five alpha genes (alpha T Saudi alpha/(alpha alpha alpha)T Saudi). Evidence suggests that the (alpha alpha alpha)T Saudi haplotype has arisen as a result of a recombination between two misaligned chromosomes bearing the alpha T Saudi alpha defect.

Type

Journal article

Journal

Blood

Publication Date

1988

Volume

71

Pages

313 - 319

Keywords

Alleles Gene Frequency Globins/*genetics Hemoglobin H Human Israel/ethnology Multigene Family Mutation Oligodeoxyribonucleotides/diagnostic use Pedigree Poly A/*genetics RNA Processing, Post-Transcriptional Saudi Arabia/ethnology Support, Non-U.S. Gov't Thalassemia/*genetics