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dc.contributor.authorBozdogan, Sevcan Tug
dc.contributor.authorYuregir, Ozge Ozalp
dc.contributor.authorBuyukkurt, Nurhilal
dc.contributor.authorAslan, Huseyin
dc.contributor.authorOzdemir, Zeynep Canan
dc.contributor.authorGambin, Tomasız
dc.date.accessioned2019-12-05T07:13:59Z
dc.date.available2019-12-05T07:13:59Z
dc.date.issued2015
dc.identifier.issn0971-4502
dc.identifier.urihttp://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC4375160&blobtype=pdf
dc.identifier.urihttp://hdl.handle.net/11727/4318
dc.description.abstractTo 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.en_US
dc.language.isoengen_US
dc.relation.isversionof10.1007/s12288-014-0406-0en_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectAlpha-thalassemiaen_US
dc.subjectMutationen_US
dc.subjectPhenotype-genotype correlationen_US
dc.titleAlpha-Thalassemia Mutations in Adana Province, Southern Turkey: Genotype-Phenotype Correlationen_US
dc.typearticleen_US
dc.relation.journalINDIAN JOURNAL OF HEMATOLOGY AND BLOOD TRANSFUSIONen_US
dc.identifier.volume31en_US
dc.identifier.issue2en_US
dc.identifier.startpage223en_US
dc.identifier.endpage228en_US
dc.identifier.wos000352281200011en_US
dc.identifier.scopus2-s2.0-84939874788en_US
dc.contributor.pubmedID25825562en_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergien_US


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