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dc.contributor.authorGrimholt, Runa Marie
dc.contributor.authorFjeld, Bente
dc.contributor.authorSelsås, Hilde
dc.contributor.authorSchwettmann, Lutz
dc.contributor.authorKlingenberg, Olav
dc.date.accessioned2019-10-09T12:24:09Z
dc.date.available2019-10-09T12:24:09Z
dc.date.created2019-07-10T13:08:16Z
dc.date.issued2019
dc.identifier.citationHemoglobin. 2019, 43 (2), 122-125.nb_NO
dc.identifier.issn0363-0269
dc.identifier.urihttp://hdl.handle.net/11250/2621185
dc.description.abstractA new unstable hemoglobin (Hb) variant, named Hb Aalesund, was detected during Hb A1c measurement in a patient with a nearly compensated hemolytic anemia. Sequencing of the α-globin genes revealed a 7 bp deletion in exon 3 of the HBA2 gene (HBA2: c.400_406delAGCACCG) (NM_000517.4) causing a frameshift and a premature termination codon (PTC) two positions downstream. Apparently, the transcript bypassed nonsense-mediated decay (NMD), and a truncated protein was translated. The unstable Hb variant presumably underwent rapid denaturation, as heterozygosity of Hb Aalesund was associated with mild hemolytic anemia. In addition, the Hb variant interfered with Hb A1c measurement by cation exchange high performance liquid chromatography (HPLC), causing a falsely high Hb A1c result when using the Bio-Rad D10™ Hemoglobin Analyzer fast Hb A1c Program.nb_NO
dc.language.isoengnb_NO
dc.publisherTaylor & Francisnb_NO
dc.titleHb Aalesund (HBA2: c.400_406delAGCACCG), an Unstable α-Globin Variant Found in a Norwegian Patient Causing Moderate Hemolytic Anemia and Falsely High Hb A1c Using Ion Exchange High Performance Liquid Chromatographynb_NO
dc.typeJournal articlenb_NO
dc.typePeer reviewednb_NO
dc.description.versionacceptedVersionnb_NO
dc.source.pagenumber122-125nb_NO
dc.source.volume43nb_NO
dc.source.journalHemoglobinnb_NO
dc.source.issue2nb_NO
dc.identifier.doi10.1080/03630269.2019.1614048
dc.identifier.cristin1711085
dc.description.localcodeLocked until 30.5.2020 due to copyright restrictions. This is an [Accepted Manuscript] of an article published by Taylor & Francis in [JOURNAL] on [date], available at https://doi.org/10.1080/03630269.2019.1614048nb_NO
cristin.unitcode194,66,45,0
cristin.unitnameInstitutt for biologiske fag Ålesund
cristin.ispublishedtrue
cristin.fulltextoriginal
cristin.fulltextpostprint
cristin.qualitycode1


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