The Spectrum of α-Thalassemia Mutations in Kermanshah Province, West Iran.
Thalassemia is a hereditary blood disorder that results from genetic defects causing deficient synthesis of hemoglobin (Hb) polypeptide chains. Although thalassemia mostly affects developing countries, there is limited knowledge of its accurate frequency and distribution in these regions. Knowing the prevalence of thalassemia and the frequency of responsible mutations is therefore an important step in the prevention and control program as well as treatment strategies. α-Thalassemia (α-thal) is prevalent in Middle East Asian populations, including Iran. In this study, 678 unrelated α-thal carriers, attending the Kermanshah Medical Genetics Laboratory, Kermanshah, Iran, were investigated for α-globin gene mutations by multiplex polymerase chain reaction (PCR) and direct sequencing. The most common mutation among our patients was -α(3.7) (rightward) (60.9%) deletion, which is also known to occur in high frequencies in other parts of Iran, in Southeast Asia and Mediterranean countries. Other prevalent α-thal mutations were α(-5 nt) (10.6%), α(polyA4) (9.9%), α(polyA6) (3.7%), - -(MED) (3.2%), -α(4.2) (leftward) (3.1%) deletion and codon 59 (Hb Adana; HBA1: c.179 G > A) (2.5%). These comprehensive new data are useful for establishing a screening strategy for the effective control of α-thal in Kermanshah Province.
a Department of Biochemistry , School of Medicine, Kermanshah University of Medical Sciences , Kermanshah , Iran.
Reza
R
Alibakhshi
b Medical Biology Research Centre, Kermanshah University of Medical Sciences , Kermanshah , Iran.
Masomeh
M
Mehrabi
c Medical Genetics Laboratory , Kermanshah University of Medical Sciences , Kermanshah , Iran.
Leila
L
Omidniakan
c Medical Genetics Laboratory , Kermanshah University of Medical Sciences , Kermanshah , Iran.
Samaneh
S
Shafieenia
D004252:DNA Mutational Analysis; D004909:Erythrocyte Indices; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D007492:Iran / Q000453:epidemiology; D008297:Male; D009154:Mutation; D010641:Phenotype; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000097:blood / Q000453:epidemiology* / Q000235:genetics*
D055542:alpha-Globins
Hb Adana (HBA1: c.179 G > A); Kermanshah Province; West Iran; α-Thalassemia (α-thal) mutation