| dc.contributor.author | Grimholt, Runa Marie | |
| dc.contributor.author | Fjeld, Bente | |
| dc.contributor.author | Selsås, Hilde | |
| dc.contributor.author | Schwettmann, Lutz | |
| dc.contributor.author | Klingenberg, Olav | |
| dc.date.accessioned | 2019-10-08T12:54:16Z | |
| dc.date.accessioned | 2019-10-15T12:48:49Z | |
| dc.date.available | 2019-10-08T12:54:16Z | |
| dc.date.available | 2019-10-15T12:48:49Z | |
| dc.date.issued | 2019-04-03 | |
| dc.identifier.citation | Grimholt RM, Fjeld B, Selsås H, Schwettmann L, Klingenberg O. Hb 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 Chromatography.. Hemoglobin. 2019;43(2):122-125 | en |
| dc.identifier.issn | 0363-0269 | |
| dc.identifier.issn | 0363-0269 | |
| dc.identifier.issn | 1532-432X | |
| dc.identifier.uri | https://hdl.handle.net/10642/7675 | |
| dc.description.abstract | A 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. | en |
| dc.language.iso | en | en |
| dc.publisher | Informa Healthcare | en |
| dc.relation.ispartofseries | Hemoglobin;Volume 43, Issue 2 | |
| dc.rights | This is an Accepted Manuscript of an article published by Taylor & Francis in Hemoglobin on 30/05/2019, available online:
https://www.tandfonline.com/doi/full/10.1080/03630269.2019.1614048 | en |
| dc.subject | α-Globin genes | en |
| dc.subject | Hemoglobinopathies | en |
| dc.subject | Hb A1c | en |
| dc.subject | Hemolytic anemia | en |
| dc.subject | Unstable hemoglobin (Hb) | en |
| dc.title | Hb 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 Chromatography. | en |
| dc.type | Journal article | en |
| dc.type | Peer reviewed | en |
| dc.date.updated | 2019-10-08T12:54:16Z | |
| dc.description.version | acceptedVersion | en |
| dc.identifier.doi | https://dx.doi.org/10.1080/03630269.2019.1614048 | |
| dc.identifier.cristin | 1711085 | |
| dc.source.journal | Hemoglobin | |
