A New Mutation, Hb A2-Canakkale [?10(A7)Ala?Val; HBD: c.32C>T], and Other Well-Known ? Variants Identified in a Selected Cohort with Low Hb A2 Levels

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dc.contributor.authorKarakaya, Taner
dc.contributor.authorSılan, Fatma
dc.contributor.authorÖzdemir, Öztürk
dc.date.accessioned2025-01-27T20:32:06Z
dc.date.available2025-01-27T20:32:06Z
dc.date.issued2022
dc.departmentÇanakkale Onsekiz Mart Üniversitesi
dc.description.abstractHemoglobinopathies are the most common single-gene disorders, and beta-thalassemia (beta-thal) imposes a tremendous health burden on Turkey. Thus, premarital carrier screening is obligatory in Turkey, as it is in some other countries. As a result of this mandatory procedure, at routine clinical checkups, many individuals who had undergone premarital screening but did not have any clinical symptoms and/or hematological findings, have compulsorily been required to undergo further evaluation due to abnormal levels of hemoglobin (Hb) fractions (Hb A, Hb A(2) and Hb F). Many consequences, such as mutations in unrelated gene(s) or someone's nutritional status, have been reported to affect the Hb fractions levels. In the present study, we aimed to determine whether HBD has a molecular causative role in patients with low Hb A(2) levels (below 1.8%). The study was conducted with 20 individuals with low Hb A(2) levels who had applied to our outpatient clinic. All DNA samples were analyzed for the HBD gene. Nineteen of the 20 subjects were diagnosed to carry a mutation with one of four different delta-globin variants. Three of them had been described previously [Hb A(2)-Yialousa (HBD: c.82G>T), Hb A(2)-Bornova (HBD: c.350G>C) and Hb A(2)-Yokoshima (HBD: c.77G>A)]. The novel [delta 10(A7)Ala -> Val, HBD: c.32C>T] mutation was defined as a new delta variant and reported to the HbVar database as Hb A(2)-Canakkale. In conclusion, the molecular characterization of Hb A(2) low levels has been suggested to be significant for a definite diagnosis and counseling.
dc.identifier.doi10.1080/03630269.2022.2083968
dc.identifier.endpage90
dc.identifier.issn0363-0269
dc.identifier.issn1532-432X
dc.identifier.issue2
dc.identifier.pmid35930292
dc.identifier.scopus2-s2.0-85135476154
dc.identifier.scopusqualityQ3
dc.identifier.startpage87
dc.identifier.urihttps://doi.org/10.1080/03630269.2022.2083968
dc.identifier.urihttps://hdl.handle.net/20.500.12428/23353
dc.identifier.volume46
dc.identifier.wosWOS:000836643200001
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherTaylor & Francis Ltd
dc.relation.ispartofHemoglobin
dc.relation.publicationcategoryinfo:eu-repo/semantics/openAccess
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_WoS_20250125
dc.subjectdelta-Thalassemia (delta-thal)
dc.subjectHBD
dc.subjectlow Hb A(2) level
dc.titleA New Mutation, Hb A2-Canakkale [?10(A7)Ala?Val; HBD: c.32C>T], and Other Well-Known ? Variants Identified in a Selected Cohort with Low Hb A2 Levels
dc.typeArticle

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