Balkan Journal of Medical Genetics (Dec 2022)
Rare and New Mutations of B-Globin in Azari Population of Iran, a Considerable Diversity
Abstract
Thalassemia, as the most common single-gene genetic disorder, is related to a defect in the synthesis of one or more hemoglobin chains. More than 200 mutations have been identified in the β-globin gene. Globally, every susceptible racial group has its own specific spectrum of the common mutations that are well-known to a particular geographic region. On the other hand, varying numbers of diverse rare mutations may occur.
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