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.
journal_name
Hemoglobinjournal_title
Hemoglobinauthors
Grimholt RM,Fjeld B,Selsås H,Schwettmann L,Klingenberg Odoi
10.1080/03630269.2019.1614048subject
Has Abstractpub_date
2019-03-01 00:00:00pages
122-125issue
2eissn
0363-0269issn
1532-432Xjournal_volume
43pub_type
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