α-Globin gene mutations in Isfahan Province, Iran.
α-Thalassemia (α-thal) encompasses a spectrum of mutations including deletion and point mutations on the α-globin chains that is characterized by a reduction or complete absence of α-globin genes. Most of the α-thal cases are deletions involving one (α(+)) or both (α(0)) α-globin genes, although point mutations (α(T)α or αα(T)) are found as well. In this study, 314 individuals with low hematological values, normal Hb A2 who were not affected with β-thal or iron deficiency, were investigated for the presence of α-thal mutations. The most common deletion was -α(3.7) (rightward) with a frequency of 70.7%, followed by α(-5 nt) (-TGAGG) (8.7%), -α(4.2) (leftward) (4.7%), the polyadenylation signal (polyA2) site (AATAAA > AATGAA) (4.2%), -(α)(20.5) (3.8%), Hb Constant Spring [Hb CS, α142, Stop→Gln; HBA2: c.427T > C] (2.9%), polyA1 (AATAAA > AATAAG) and α(codon 19) (GCG > GC-, α2) (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.
Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences , Isfahan , Iran.
Arezo
A
Karamzade
Hadi
H
Mirzapour
Majid
M
Hoseinzade
Sara
S
Asadi
Tahere
T
Gholamrezapour
Parvaneh
P
Tavakoli
Mansoor
M
Salehi
Mansoor
M
Selebi
D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D005260:Female; D006801:Humans; D007492:Iran / Q000453:epidemiology; D008297:Male; D017384:Sequence Deletion; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000453:epidemiology / Q000235:genetics*
D055542:alpha-Globins
Iran; Isfahan Province; mutations; α-Thalassemia (α-thal)