β-Thalassemia (β-thal) is the most common hereditary disease in Iran which has been the home to one of the world's oldest and major civilizations. Different ethnic groups and tribes live in Iran, and there are more than two million carriers of β-thal in Iran. In the last two decades, β-thal mutations have been investigated in several Iranian provinces. This ethnic/genetic heterogeneity has resulted in a high number of different β-thal mutations. Comparison between different provinces shows that the mutation spectrum differs substantially in types and frequencies. A total of 60 mutations have been reported in Iranian patients and we present a review of these findings and describe the distribution, spectrum and experience of detection of β-thal mutations in Iran.

Keywords: β-thalassemia, Mutation, Iran

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