Presentation of two new mutations in the 3?untranslated region of the ?-globin gene and evaluating the molecular spectrum of thalassemia mutations in the Mediterranean region of Turkey

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dc.authoridILHAN, GUL/0000-0003-1616-6358
dc.authoridozcan, oguzhan/0000-0001-7486-503X
dc.authoridUNLU GUL, BAHAR/0000-0002-1772-5871
dc.authoridDIRICAN, EMRE/0000-0003-3550-1326
dc.contributor.authorArpaci, Abdullah
dc.contributor.authorGul, Bahar Unlu
dc.contributor.authorOzcan, Oguzhan
dc.contributor.authorIlhan, Gul
dc.contributor.authorEl, Cigdem
dc.contributor.authorDirican, Emre
dc.contributor.authorElmacioglu, Sibel
dc.date.accessioned2024-09-18T20:59:21Z
dc.date.available2024-09-18T20:59:21Z
dc.date.issued2021
dc.departmentHatay Mustafa Kemal Üniversitesien_US
dc.description.abstractThalassemia is a common genetic disorder. We aimed to present thalassemia mutation data that covers a period of 7 years from the Mediterranean region of Turkey by comparing with hemoglobin indices and to contribute to prenatal diagnosis and genetic counseling studies which should be decided very quickly. In this study, in which a retrospective archive was scanned, the cases were first grouped as alpha and beta thalassemia, and then beta thalassemia mutations were examined in a total of 5 groups as UTR-Pro, Codon, IVS, beta(0), and beta(+). We have reached the family of the proband that analyzed their Hb indices and genetic mutation. All mutations were statistically compared with Hb indices, HbF, and HbA(2). We have identified two new beta thalassemia mutations that have the feature of not being defined previously [HBB:C*62 A>G. (3 ' UTR+1536 A>G) and HBB:C*1 G>A (3 ' UTR+1475 G>A)]. The most commonly encountered 23 mutations account for 74.7% of all mutations which is unlike the literature. In the beta thalassemia group, 73 different mutations were detected. The most common beta thalassemia mutation was HBB: c.93-21 G>A (IVS I-110 G>A) with a frequency of 19.72%. A statistically significant difference was found when comparing the mutation groups with Hb indices. We think that it may be useful to evaluate the mutations we have newly identified too together with the Hb indices especially in evaluating the carriers of thalassemia and it will contribute to prenatal diagnosis and genetic counseling studies which should be decided very quickly.en_US
dc.identifier.doi10.1007/s00277-021-04509-9
dc.identifier.endpage1438en_US
dc.identifier.issn0939-5555
dc.identifier.issn1432-0584
dc.identifier.issue6en_US
dc.identifier.pmid33851260en_US
dc.identifier.scopus2-s2.0-85104656994en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage1429en_US
dc.identifier.urihttps://doi.org/10.1007/s00277-021-04509-9
dc.identifier.urihttps://hdl.handle.net/20.500.12483/12534
dc.identifier.volume100en_US
dc.identifier.wosWOS:000639696500001en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSpringeren_US
dc.relation.ispartofAnnals of Hematologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectThalassemiaen_US
dc.subjectNew mutationsen_US
dc.subjectHemoglobinopathyen_US
dc.subjectHemoglobin indicesen_US
dc.subjectPrenatal diagnosisen_US
dc.titlePresentation of two new mutations in the 3?untranslated region of the ?-globin gene and evaluating the molecular spectrum of thalassemia mutations in the Mediterranean region of Turkeyen_US
dc.typeArticleen_US

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