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Hemoglobin Yamagata [beta 132(H10)Lys -> Asn; (HBB: c.399A > T)]: a mosaic to be put together
- Source :
- Clinical Chemistry and Laboratory Medicine (CCLM), 59(10), 1670-1679. WALTER DE GRUYTER GMBH
- Publication Year :
- 2021
- Publisher :
- WALTER DE GRUYTER GMBH, 2021.
-
Abstract
- Objectives Artifactually altered glycated hemoglobin (HbA1c) concentrations are frequently linked to hemoglobin (Hb) variants. Their expression and detection require in-depth analysis. Methods Cation exchange high performance liquid chromatography (HPLC) (Bio-Rad Variant™ II; Trinity Biotech Premier Hb9210 Resolution), capillary electrophoresis (CE) (Sebia Capillarys 2 Flex Piercing) and mass spectrometry (MS) (Waters) were used for variant detection; Sanger sequencing, multiplex ligation-dependent probe amplification (MLPA) and next generation sequencing (NGS) were used for DNA analysis; HbA1c was measured with cation exchange HPLC (Bio-Rad Variant™ II; Arkray Adams HA-8180V; Tosoh HLC-723 G7), CE (Sebia Capillarys 2 Flex Piercing), boronate affinity HPLC (Trinity Biotech Hb9210 Premier), immunoassay (Cobas c501 Tina-quant HbA1c Gen. 3; Nihon Kohden CHM-4100 Celltac chemi HbA1c HA-411V) and enzymatic assay (Abbott Architect c 8000 HbA1c). Results Hb Yamagata [β132(H10)Lys→Asn; (HBB: c.399A>T)] was identified in the proband by MS after the observation of an abnormal peak in HPLC and CE. A mosaic expression of this variant was detected by NGS (mutant: 8%; wild type: 92%), after negative results in Sanger sequencing. Hb Yamagata interfered with HbA1c measurements by cation exchange HPLC and CE whereas immuno and enzymatic assay values showed good agreement with boronate affinity HPLC measurement. Conclusions A mosaicism of Hb Yamagata was found in a patient with altered HbA1c values. This rare gene variant was detected only by advanced technologies as MS and NGS. The variant interfered with common HbA1c determination methods.
- Subjects :
- 0301 basic medicine
Clinical Biochemistry
capillary electrophoresis
High-performance liquid chromatography
DNA sequencing
03 medical and health sciences
symbols.namesake
0302 clinical medicine
Capillary electrophoresis
medicine
Multiplex
HbA(1c)
Multiplex ligation-dependent probe amplification
mass spectrometry
Sanger sequencing
Hb Yamagata
Chromatography
medicine.diagnostic_test
Chemistry
Biochemistry (medical)
General Medicine
030104 developmental biology
mosaicism
030220 oncology & carcinogenesis
Immunoassay
symbols
Hemoglobin
HPLC
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Journal :
- Clinical Chemistry and Laboratory Medicine (CCLM), 59(10), 1670-1679. WALTER DE GRUYTER GMBH
- Accession number :
- edsair.doi.dedup.....d553f2ca79c560cd0ebd06a5643512cb