title: Broader spectrum of β-thalassemia mutations in Oman: regional distribution and comparison with neighboring countries.
abstract: The objective of this study was to expand and study the molecular spectrum of β-thalassemia (β-thal) mutations in Oman by examining cases from seven different regions and comparing the prevalence with neighboring countries. A total of 446 cases of β hemoglobinopathies was obtained and analyzed to determine the frequency and distribution of the different β alleles. The molecular spectrum of β-thal in Oman revealed the presence of 32 mutations from different origins and 11 alleles are reported for the first time in the Omani population. The wide heterogeneous spectrum of β-thal mutations found can be associated with the history of trade and migration as well as the past domination from other countries. The presented data will facilitate the development of a comprehensive prevention strategy in Oman.
authors: Molecular Genetic Laboratory, National Genetic Centre , Muscat , Sultanate of Oman and.
authors: Suha M
authors: SM
authors: Hassan
authors: Cornelis L
authors: CL
authors: Harteveld
authors: Egbert
authors: E
authors: Bakker
authors: Piero C
authors: PC
authors: Giordano
mesh_terms: D000483:Alleles; D005091:Exons; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007438:Introns; D009154:Mutation; D009850:Oman / Q000453:epidemiology; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000453:epidemiology* / Q000235:genetics*
chemical_list: D055544:beta-Globins
keywords: Oman; β Gene mutation spectrum; β-thalassemia (β-thal)