Alpha-Thalassemia Mutations in Adana Province, Southern Turkey: Genotype-Phenotype Correlation
Indian Journal of Hematology and Blood Transfusion, cilt.31, sa.2, ss.223-228, 2015 (SCI-Expanded, Scopus)
- 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
- Sağlık Bilimleri 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 –α3.7 (63.3 %), --MED (11.7 %), --20.5 (10.7 %), α2IVS1(−5nt) (3.9 %), and α2polyA−2 (3.5 %). The most frequent genotypes were –α3.7/αα (35.8 %), –α3.7/-α3.7(18.9 %), –20.5/αα (11.5 %), and --MED/αα (10.4 %), respectively. There were statistically significant differences in hematological findings between –α3.7/–α3.7 and --MED/αα, 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 –α3.7 single gene deletion is particularly prevalent at Adana province in agreement to other studies from Turkey.