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

Bozdogan S. T., Yuregir O. O., Buyukkurt N., Aslan H., Ozdemir Z. C., Gambin T.

INDIAN JOURNAL OF HEMATOLOGY AND BLOOD TRANSFUSION, cilt.31, sa.2, ss.223-228, 2015 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 31 Sayı: 2
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1007/s12288-014-0406-0
  • Dergi Adı: INDIAN JOURNAL OF HEMATOLOGY AND BLOOD TRANSFUSION
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.223-228
  • Anahtar Kelimeler: Alpha-thalassemia, Mutation, Phenotype-genotype correlation, MOLECULAR CHARACTERIZATION, SPECTRUM, POPULATION, DISEASE, REGION, GENE, HYBRIDIZATION, FREQUENCY, DIAGNOSIS, DELETION
  • Eskişehir Osmangazi Üniversitesi Adresli: Evet

Özet

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.