alpha-Globin Gene Mutations in Isfahan Province, Iran

作者：Karamzade Arezo; Mirzapour Hadi; Hoseinzade Majid; Asadi Sara; Gholamrezapour Tahere; Tavakoli Parvaneh; Selebi Mansoor^*

来源：Hemoglobin, 2014, 38(3): 161-164.

DOI：10.3109/03630269.2014.893531

• alpha-Thalassemia (alpha-thal)
• Iran
• Isfahan Province
• mutations

alpha-Thalassemia (alpha-thal) encompasses a spectrum of mutations including deletion and point mutations on the alpha-globin chains that is characterized by a reduction or complete absence of alpha-globin genes. Most of the alpha-thal cases are deletions involving one (alpha(+)) or both (alpha(0)) alpha-globin genes, although point mutations (alpha(T)alpha or alpha alpha(T)) are found as well. In this study, 314 individuals with low hematological values, normal Hb A(2) who were not affected with beta-thal or iron deficiency, were investigated for the presence of alpha-thal mutations. The most common deletion was -alpha(3.7) (rightward) with a frequency of 70.7%, followed by alpha(-5 nt) (-TGAGG) (8.7%), -alpha(4.2) (leftward) (4.7%), the polyadenylation signal (polyA2) site (AATAAA>AATGAA) (4.2%), -(alpha)(20.5) (3.8%), Hb Constant Spring [Hb CS, alpha 142, Stop -> Gln; HBA2: c.427T>C] (2.9%), polyA1 (AATAAA>AATAAG) and alpha(codon 19) (GCG>GC-, alpha 2) (16%), and - -(MED) (0.9%). The results of this study may be valuable for designing a plan for carrier screening, premarital genetic counseling, prenatal diagnosis (PND) and reducing excessive health care costs to an affordable level in Isfahan Province, Iran.

• 出版日期2014