title: Alpha-thalassemia mutations in adana province, southern Turkey: genotype-phenotype correlation.
abstract: 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 -α(3.7) (63.3 %), --(MED) (11.7 %), --(20.5) (10.7 %), α2(IVS1(-5nt)) (3.9 %), and α2(polyA-2) (3.5 %). The most frequent genotypes were -α(3.7)/αα (35.8 %), -α(3.7)/-α(3.7)(18.9 %), -(20.5)/αα (11.5 %), and --(MED)/αα (10.4 %), respectively. There were statistically significant differences in hematological findings between -α(3.7)/-α(3.7) 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 -α(3.7) single gene deletion is particularly prevalent at Adana province in agreement to other studies from Turkey.
authors.affiliation: Department of Medical Genetics, Mersin University, Faculty of Medicine, Mersin, Turkey.
authors.forename: Sevcan Tug
authors.initials: ST
authors.lastname: Bozdogan
authors.affiliation: Genetics Diagnosis Center, Seyhan Practice Center, Adana Numune Training and Research Hospital, Adana, 01170 Cukurova Turkey.
authors.forename: Ozge Ozalp
authors.initials: OO
authors.lastname: Yuregir
authors.affiliation: Department of Hematology and Bone Marrow Transplantation Unit, Baskent University Adana Training and Research Hospital, Adana, Turkey.
authors.forename: Nurhilal
authors.initials: N
authors.lastname: Buyukkurt
authors.affiliation: Genetics Diagnosis Center, Seyhan Practice Center, Adana Numune Training and Research Hospital, Adana, 01170 Cukurova Turkey.
authors.forename: Huseyin
authors.initials: H
authors.lastname: Aslan
authors.affiliation: Department of Pediatrics, Division of Pediatric Hematology, Adana Numune Training and Research Hospital, Adana, Turkey.
authors.forename: Zeynep Canan
authors.initials: ZC
authors.lastname: Ozdemir
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX USA.
authors.forename: Tomasz
authors.initials: T
authors.lastname: Gambin
keywords: Alpha-thalassemia; Mutation; Phenotype-genotype correlation
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