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.
Keywords: Oman; β Gene mutation spectrum; β-thalassemia (β-thal).