Molecular Study of Deletional and Nondeletional Mutations on the α-Globin Locus in the Azeri Population of Northwestern Iran

• Published in: Hemoglobin 2016-09, Vol.40 (5), p.319-322
• Main Authors: Derakhshan, Sima M., Khaniani, Mahmoud S., Afkhami, Fateme, PourFeizi, Abbasali H.
• Format: Article
• Language: English
• Subjects: alpha-Globins - genetics; alpha-Thalassemia - epidemiology; alpha-Thalassemia - genetics; Azeri population; Female; Gene Frequency; Genetic Association Studies; Genotype; Heterozygote; Humans; Iran; Iran - epidemiology; Male; multiplex gap-polymerase chain reaction (gap-PCR); Mutation; Pregnancy; Sequence Deletion - genetics; α-Thalassemia (α-thal)
• ISSN: 0363-0269; 1532-432X
• DOI: 10.1080/03630269.2016.1240688

The aim of this study was to determine the molecular spectrum and frequency of deletional and nondeletional α-thalassemia (α-thal) mutations and the genotype-phenotype correlation in common mutations in the Azeri population of Northwestern Iran. A total of 1256 potential carriers with microcytic and hypochromic anemia and normal Hb A 2 levels (AATGAA); HBA2: c.*96G>A] with frequencies of 1.08% and 0.92%, respectively. Meanwhile, 7.71% of individuals with a proven β-thalassemia (β-thal) mutation were found to also carry an α-thal mutation. Persons having two functional α-globin genes showed lower mean corpuscular volume (MCV) and mean corpuscular hemoglobin (Hb) (MCH) values compared to those with one mutated α-globin gene, provided that they had normal β-globin genes. Overall, the incidence of α-thal was 2.7% in the Azeri population in Northwestern Iran. Our results showed that the variability of α-thal mutations are high in the Azeri population and that α-thal mutations are highly heterogeneous in both deletional and nondeletional genotype aspects.