Alpha-Thalassemia Mutations in Adana Province, Southern Turkey: Genotype-Phenotype Correlation

作者：Bozdogan Sevcan Tug^*; Yuregir Ozge Ozalp; Buyukkurt Nurhilal; Aslan Huseyin; Ozdemir Zeynep Canan; Gambin Tomasz

来源：Indian Journal of Hematology and Blood Transfusion, 2015, 31(2): 223-228.

DOI：10.1007/s12288-014-0406-0

• Alpha-thalassemia
• Mutation
• Phenotype-genotype correlation

To look over the distribution of the mutations in a large series from Adana province, Southern Turkey, and determine the genotype-phenotype correlation of the frequent mutations. Among the 2500 individuals with mild or moderate anemia, microcytosis, and normal iron levels that were referred to our Genetic Diagnosis Center, a population consisting of 539 individuals were included in the study and tested for alpha-thalassemia mutations by using reverse dot blot hybridization technique. Twelve different mutations were detected in 539 patients. Among the 12 different mutations found, the most frequent mutations were the -alpha(3.7) (63.3 %), --(MED) (11.7 %), --(20.5) (10.7 %), alpha 2(IVS1(-5nt)) (3.9 %), and alpha 2(polyA-2) (3.5 %). The most frequent genotypes were -alpha(3.7)/alpha alpha (35.8 %), -alpha(3.7)/-alpha(3.7)(18.9 %), -(20.5)/alpha alpha (11.5 %), and --(MED)/alpha alpha (10.4 %), respectively. There were statistically significant differences in hematological findings between -alpha(3.7)/-alpha(3.7) and --(MED)/alpha alpha, even though both have two mutated genes in the genotype. Our results show that alpha-thalassemia mutations are highly heterogeneous as well as deletional and -alpha(3.7) single gene deletion is particularly prevalent at Adana province in agreement to other studies from Turkey.

• 出版日期2015-6