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dc.date.accessioned2020-02-03T19:40:11Z
dc.date.available2020-02-03T19:40:11Z
dc.date.created2018-11-10T12:14:39Z
dc.date.issued2018
dc.identifier.citationGrimholt, Runa Marie Vestli, Anne Urdal, Petter Bechensteen, Anne Grete Fjeld, Bente Dalhus, Bjørn Klingenberg, Olav . Hb Oslo [β42(CD1)Phe→Ile; HBB: c.127T>A]: A novel unstable hemoglobin variant found in a Norwegian patient. Hemoglobin. 2018, 42(2), 78-83
dc.identifier.urihttp://hdl.handle.net/10852/72649
dc.description.abstractUnstable hemoglobin (Hb) variants are the result of sequence variants in the globin genes causing precipitation of Hb molecules in red blood cells (RBCs). Intracellular inclusions derived from the unstable Hb reduce the life-span of the red cells and may cause hemolytic anemia. Here we describe a patient with a history of hemolytic anemia and low oxygen saturation. She was found to be carrier of a novel unstable Hb variant, Hb Oslo [β42(CD1)Phe→Ile (TTT>ATT), HBB: c.127T>A] located in the heme pocket of the β-globin chain. Three-dimensional modeling suggested that isoleucine at position 42 creates weaker interactions with distal histidine and with the heme itself, which may lead to altered stability and decreased oxygen affinity. At steady state, the patient was in good clinical condition with a Hb concentration of 8.0–9.0 g/dL. During virus infections, the Hb concentration fell and on six occasions during 4 years, the patient needed a blood transfusion.
dc.languageEN
dc.publisherTaylor & Francis
dc.titleHb Oslo [β42(CD1)Phe→Ile; HBB: c.127T>A]: A novel unstable hemoglobin variant found in a Norwegian patient
dc.typeJournal article
dc.creator.authorGrimholt, Runa Marie
dc.creator.authorVestli, Anne
dc.creator.authorUrdal, Petter
dc.creator.authorBechensteen, Anne Grete
dc.creator.authorFjeld, Bente
dc.creator.authorDalhus, Bjørn
dc.creator.authorKlingenberg, Olav
cristin.unitcode185,53,18,14
cristin.unitnameAvdeling for medisinsk biokjemi
cristin.ispublishedtrue
cristin.fulltextpostprint
cristin.qualitycode1
dc.identifier.cristin1628932
dc.identifier.bibliographiccitationinfo:ofi/fmt:kev:mtx:ctx&ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Hemoglobin&rft.volume=42&rft.spage=78&rft.date=2018
dc.identifier.jtitleHemoglobin
dc.identifier.volume42
dc.identifier.issue2
dc.identifier.startpage78
dc.identifier.endpage83
dc.identifier.doihttps://doi.org/10.1080/03630269.2018.1468773
dc.identifier.urnURN:NBN:no-75799
dc.type.documentTidsskriftartikkel
dc.type.peerreviewedPeer reviewed
dc.source.issn0363-0269
dc.identifier.fulltextFulltext https://www.duo.uio.no/bitstream/handle/10852/72649/1/Fulltekst_HbOslo.pdf
dc.type.versionAcceptedVersion


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