Balkan Journal of Medical Genetics (Dec 2022)

Rare and New Mutations of B-Globin in Azari Population of Iran, a Considerable Diversity

  • Abbasali F.H.,
  • Mahmoud K.Sh.,
  • Hengameh N.,
  • Mina D.H.,
  • Setare D.,
  • Hale D.M,
  • Sima D.M.

DOI
https://doi.org/10.2478/bjmg-2022-0016
Journal volume & issue
Vol. 25, no. 2
pp. 51 – 62

Abstract

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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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