A Pitfall in HbA1c Testing Caused by Hb Long Island Hemoglobin Variant.
Adult
Chromatography, High Pressure Liquid
/ standards
Diagnostic Errors
Diagnostic Tests, Routine
/ standards
Electrophoresis, Capillary
/ standards
Female
Genetic Testing
/ standards
Glycated Hemoglobin
/ analysis
Hemoglobinometry
/ standards
Humans
Mutation, Missense
Polymerase Chain Reaction
/ standards
Sequence Analysis, DNA
/ standards
HbA1c
diabetes
hemoglobin variant
β-gene
Journal
Laboratory medicine
ISSN: 1943-7730
Titre abrégé: Lab Med
Pays: England
ID NLM: 0250641
Informations de publication
Date de publication:
02 Jan 2020
02 Jan 2020
Historique:
pubmed:
4
6
2019
medline:
4
6
2020
entrez:
2
6
2019
Statut:
ppublish
Résumé
Although many factors may interfere with hemoglobin (Hb)A1c measurement, Hb variants are among the most important factors. We tested the HbA1c levels of the patient, a 32 year old Manchu Chinese woman, during a routine health check. We used different methods, including high-performance liquid chromatography (HPLC) and capillary electrophoresis, to test specimens from the patient. Next, we tested the specimen further using polymerase chain reaction (PCR) and sequencing. We discovered that our patient, who had an HbA1c value of 0, also has an Hb variant, Hb Long Island, which we found during the HbA1c analysis as part of her routine health check at the Health Management Center in the General Hospital of Tianjin Medical University, Tianjin, China. Also, we discovered that the exon 1 of β gene contained transversion mutations, with 1 heterozygous and 1 homozygous variant (HBB:c.8A > C, 9T > C). These gene mutations resulted in an amino-acid change (His to Pro) and a decrease in HbA1c value. When there is no correlation between the clinical signs, glycemic status, and glycated Hb levels of the patient, the chromatogram of HbA1c should be carefully checked to detect possible variants that cause interference in the measurement.
Sections du résumé
BACKGROUND
BACKGROUND
Although many factors may interfere with hemoglobin (Hb)A1c measurement, Hb variants are among the most important factors.
METHODS
METHODS
We tested the HbA1c levels of the patient, a 32 year old Manchu Chinese woman, during a routine health check. We used different methods, including high-performance liquid chromatography (HPLC) and capillary electrophoresis, to test specimens from the patient. Next, we tested the specimen further using polymerase chain reaction (PCR) and sequencing.
RESULTS
RESULTS
We discovered that our patient, who had an HbA1c value of 0, also has an Hb variant, Hb Long Island, which we found during the HbA1c analysis as part of her routine health check at the Health Management Center in the General Hospital of Tianjin Medical University, Tianjin, China. Also, we discovered that the exon 1 of β gene contained transversion mutations, with 1 heterozygous and 1 homozygous variant (HBB:c.8A > C, 9T > C). These gene mutations resulted in an amino-acid change (His to Pro) and a decrease in HbA1c value.
CONCLUSIONS
CONCLUSIONS
When there is no correlation between the clinical signs, glycemic status, and glycated Hb levels of the patient, the chromatogram of HbA1c should be carefully checked to detect possible variants that cause interference in the measurement.
Identifiants
pubmed: 31152169
pii: 5509892
doi: 10.1093/labmed/lmz023
doi:
Substances chimiques
Glycated Hemoglobin A
0
hemoglobin A1c protein, human
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e1-e5Informations de copyright
© American Society for Clinical Pathology 2019. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.