IVSII-74 T > G: As harmless as we thought?

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dc.contributor.authorHocaoglu-Emre, F. Sinem
dc.contributor.authorYenmis, Guven
dc.contributor.authorSaribal, Devrim
dc.contributor.authorYakicier, Cengiz
dc.date.accessioned2023-02-21T12:36:54Z
dc.date.available2023-02-21T12:36:54Z
dc.date.issued2019-01-01
dc.description.abstractBackground: IVSII-74 T > G is one of the most frequently identified polymorphic sites on the beta-globin gene. In our report, we present three cases with low mean corpuscular volume (MCV) value in three and high red blood cell (RBC) value in two of the cases. The objective of this study was to further analyse the reason for condition of three patients, who were referred for the investigation of persistent anemia. Materials and Methods: Following the HPLC analyses of Hb migration pattern, direct nucleotide sequencing of alpha-and beta-globin genes was performed for all cases. Results: The common finding was the homozygosity for the intronic change, IVSII-74 T > G. Conclusion: In the intersection point of the variations on our patients, we claim a homozygous change at position 74 on the intron II of the beta-globin gene alone may be sufficient to cause a beta-thalassemia carrier phenotype.
dc.description.issue1
dc.description.issueFEB
dc.description.pages41-46
dc.description.volume44
dc.identifier.doi10.1515/tjb-2018-0332
dc.identifier.urihttps://hdl.handle.net/11443/2168
dc.identifier.urihttp://dx.doi.org/10.1515/tjb-2018-0332
dc.identifier.wosWOS:000461427300006
dc.publisherWALTER DE GRUYTER GMBH
dc.relation.ispartofTURKISH JOURNAL OF BIOCHEMISTRY-TURK BIYOKIMYA DERGISI
dc.subjectIVSII-74 T > G
dc.subjectbeta-Globin gene
dc.subjectbeta-Globin gene polymorphism
dc.subjectbeta-Thalassemia
dc.subjectbeta-Thalassemia carrier phenotype
dc.titleIVSII-74 T > G: As harmless as we thought?
dc.typeArticle

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