Investigation of Alpha Globin Gene Mutations byComplementary Methods in Antalya

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dc.contributor.authorBilgen, Türker
dc.contributor.authorArıkan, Yunus
dc.contributor.authorKüpesiz, Alphan
dc.contributor.authorCanatan, Duran
dc.contributor.authorKeser, Ibrahim
dc.contributor.authorMercan, Tuğba Karaman
dc.date.accessioned2023-01-12T20:36:41Z
dc.date.available2023-01-12T20:36:41Z
dc.date.issued2021
dc.departmentN/A/Departmenten_US
dc.description.abstractAlpha (?) thalassemia is one of the hemoglobinopaties that is inherited by autosomal recessive mode. It is caused by mutations on alpha-1 and alpha-2 globin genes. Deletional type mutations of globin genes have commonly been seen in alpha thalassemias. While small deletional mutations such as -3.7 cause ?+-thalassemia, large deletions such as -26.5 -20.5 cause ?0-thalassemia. The objective of our study was to determine the profile of deletional and non-deletional ?-globin gene mutations in the Antalya population, Turkey.In present study, the presence of ?-thalassemia mutations were investigated by RDBH (reverse dot blot hybridization) among 250 patients with microcytic anemia and beta globin normal. Some positive and negative cases were confirmed by MLPA (multiplex ligation dependent probe amplification) and at the latest DNA sequencing. Eight different mutations were determined in 112 (44.8%) of patients in our study. The -??3.7 deletion was the most common mutation(73.3%). Others common mutations were the – ? 20.5 (13.0%) and –MED (6.5%), --FIL (2.4%), Hb Adana (2.4%). The 97.5 % of total mutations consisted of these five mutations. Three patients with Hb H disease were found related with - ? 3.7 /-(?) -20.5 genotype. One patient (2.04%) had the ??? anti-3.7 gene triplication. Two rare mutations, ?2 codon 64 (G>C) (Hb Fontainebleau) and ?2 codon 193 (G>A) (Hb G- Waimanalo), were determined by DNA sequencing firstly in Antalya Province, Turkey.Our results may be valuable to give accurate premarital genetic counseling and to apply classical prenatal and preimplantation genetic diagnosis by the complementary methods such as RDBH, MLPA and DNA sequencing for the screening of alpha thalassemia carriers.en_US
dc.identifier.doi10.5505/ejm.2021.04796
dc.identifier.endpage122en_US
dc.identifier.issn1301-0883
dc.identifier.issn1339-3886
dc.identifier.issue1en_US
dc.identifier.startpage117en_US
dc.identifier.trdizinid407003en_US
dc.identifier.urihttps://doi.org/10.5505/ejm.2021.04796
dc.identifier.urihttps://search.trdizin.gov.tr/yayin/detay/407003
dc.identifier.urihttps://hdl.handle.net/11454/81361
dc.identifier.volume26en_US
dc.indekslendigikaynakTR-Dizinen_US
dc.language.isoenen_US
dc.relation.ispartofEastern Journal of Medicineen_US
dc.relation.publicationcategoryMakale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.titleInvestigation of Alpha Globin Gene Mutations byComplementary Methods in Antalyaen_US
dc.typeArticleen_US

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