Investigation of the clinical and hematological significance of the first observed hemoglobin Ernz variant [?123(H1) Thr>Asn] in the Turkish population

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dc.contributor.authorGunesacar, Ramazan
dc.contributor.authorCelik, Muhammet Murat
dc.contributor.authorOzturk, Oktay Hasan
dc.contributor.authorCelik, Mustafa
dc.contributor.authorTumer, Cemil
dc.contributor.authorCelik, Tanju
dc.date.accessioned2024-09-18T20:55:39Z
dc.date.available2024-09-18T20:55:39Z
dc.date.issued2012
dc.departmentHatay Mustafa Kemal Üniversitesien_US
dc.description.abstractAim: In this report, we aimed to investigate the clinical and hematological significance of the first observed hemoglobin Ernz variant in the Turkish population. Materials and methods: We identified the Hb Ernz variant in 3 nonrelated females (Probands 1, 2, and 3). Proband l's family was also included the study. Hematological data were obtained with an automated cell counter and routine methodology. The beta-globin gene was sequenced by automatic sequencing. Results: Proband 1 was detected as a combination of Hb Ernz/Hb S without any clinical symptoms. Her sister and brother had to be an Hb Ernz/Hb S combination. Her mother and father only showed Hb Ernz and Hb S, respectively. Proband 2 had the Hb Ernz variant with IVS-I 5nt homozygous alpha 2 gene mutation. Proband 3 had a heterozygous Hb Ernz variant. All subjects were clinically and hematologically normal but Proband 2 had low hemoglobin, hematocrit, mean corpuscular volume, mean corpuscular hemoglobin, mean corpuscular hemoglobin concentration, and high red blood cell distribution width levels. Conclusion: In the present study, the Hb Ernz variant is demonstrated for the first time in the Turkish population. Additionally, there is no published report in the world literature of Hb Ernz in combination with IVS-I 5nt homozygote mutation in the alpha-globin gene or Hb S variant. The present report shows that the Hb Ernz variant is not clinically or hematologically significant.en_US
dc.identifier.doi10.3906/sag-1202-17
dc.identifier.endpage1475en_US
dc.identifier.issn1300-0144
dc.identifier.issn1303-6165
dc.identifier.scopus2-s2.0-84870727554en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage1471en_US
dc.identifier.urihttps://doi.org/10.3906/sag-1202-17
dc.identifier.urihttps://hdl.handle.net/20.500.12483/11980
dc.identifier.volume42en_US
dc.identifier.wosWOS:000321226500018en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherTubitak Scientific & Technological Research Council Turkeyen_US
dc.relation.ispartofTurkish Journal of Medical Sciencesen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectRare hemoglobin variantsen_US
dc.subjecthemoglobin Ernzen_US
dc.subjectDNA sequence analysisen_US
dc.titleInvestigation of the clinical and hematological significance of the first observed hemoglobin Ernz variant [?123(H1) Thr>Asn] in the Turkish populationen_US
dc.typeArticleen_US

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