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Hemoglobin variants in southern China: results obtained during the measurement of glycated hemoglobin in a large population

  • Anping Xu ORCID logo EMAIL logo , Weidong Chen , Weijie Xie , Yajun Wang and Ling Ji
Published/Copyright: July 20, 2020
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Clinical Chemistry and Laboratory Medicine (CCLM)
From the journal Clinical Chemistry and Laboratory Medicine (CCLM) Volume 59 Issue 1

Abstract

Objectives

Hemoglobin (Hb) variant is one of the most common monogenic inherited disorders. We aimed to explore the prevalence and hematological and molecular characteristics of Hb variants in southern China.

Methods

We collected blood samples from all patients with suspected variants found during HbA1c measurement via a cation-exchange high-performance liquid chromatography system (Bio-Rad Variant II Turbo 2.0) or a capillary electrophoresis method (Sebia Capillarys). Hematological analysis, Sanger sequencing, and gap-PCR were performed for these samples.

Results

Among the 311,024 patients tested, we found 1,074 Hb variant carriers, including 823 identified using Capillarys and 251 using Variant II Turbo 2.0, with a total carrier rate of 0.35%. We discovered 117 types of Hb variants (52 HBB, 47 HBA, and 18 HBD mutations) containing 18 new mutations. The most common variant found was Hb E, followed by Hb New York, Hb J-Bangkok, Hb Q-Thailand, Hb G-Coushatta, Hb G-Honolulu, Hb G-Taipei, and Hb Broomhill. Most heterozygotes for the Hb variant exhibited normal hematological parameters. However, most patients with compound heterozygotes for the Hb variant and thalassemia showed varied degrees of microcytic hypochromic anemia.

Conclusions

The prevalence of hemoglobin variants remains high and exhibits genetic diversity and widespread distribution in the population of southern China.

Keywords: capillary electrophoresis; cation-exchange high-performance liquid chromatography; HbA1c; hemoglobin variant; prevalence; southern China
Corresponding author: Anping Xu, Department of Laboratory Medicine, Peking University Shenzhen Hospital, Lian Hua Road No. 1120, Futian District 518036,Shenzhen, Guangdong, P.R. China, E-mail:

Funding source: Research Foundation of Peking University Shenzhen Hospital

Award Identifier / Grant number: JCYJ2018005

  1. Research funding: This study was supported by the Research Foundation of Peking University Shenzhen Hospital (JCYJ2018005).

  2. Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.

  3. Competing interests: Authors state no conflict of interest.

  4. Informed consent: Informed consent was obtained from all individuals included in this study.

  5. Ethical approval: This study was approved by the Ethics Review Committee of Peking University Shenzhen Hospital.

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Supplementary Material

The online version of this article offers supplementary material (https://doi.org/10.1515/cclm-2020-0767).

Received: 2020-05-21
Accepted: 2020-07-08
Published Online: 2020-07-20
Published in Print: 2021-01-26

© 2020 Walter de Gruyter GmbH, Berlin/Boston

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  42. Letter to the Editors
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https://doi.org/10.1515/cclm-2020-0767
Keywords for this article
capillary electrophoresis; cation-exchange high-performance liquid chromatography; HbA1c; hemoglobin variant; prevalence; southern China

Articles in the same Issue

  1. 10.1515/cclm-2020-frontmatter1
  2. Mario Plebani turns 70
  3. Editorial
  4. Measurement uncertainty and the importance of correlation
  5. Reviews
  6. Untangling the association between prostate-specific antigen and diabetes: a systematic review and meta-analysis
  7. The emerging role of cell senescence in atherosclerosis
  8. Mini Review
  9. Minimum retesting intervals in practice: 10 years experience
  10. Opinion Paper
  11. Cardiotoxic effects and myocardial injury: the search for a more precise definition of drug cardiotoxicity
  12. EFLM Papers
  13. The CRESS checklist for reporting stability studies: on behalf of the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM) Working Group for the Preanalytical Phase (WG-PRE)
  14. Thoughts and expectations of young professionals about the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)
  15. Guidelines and Recommendations
  16. Evidence on clinical relevance of cardiovascular risk evaluation in the general population using cardio-specific biomarkers
  17. Genetics and Molecular Diagnostics
  18. A systematic evaluation of stool DNA preparation protocols for colorectal cancer screening via analysis of DNA methylation biomarkers
  19. General Clinical Chemistry and Laboratory Medicine
  20. The new IVD Regulation 2017/746: a case study at a large university hospital laboratory in Belgium demonstrates the need for clarification on the degrees of freedom laboratories have to use lab-developed tests to improve patient care
  21. Evaluation of serum electrolytes measurement through the 6-year trueness verification program in China
  22. Feasibility for aggregation of commutable external quality assessment results to evaluate metrological traceability and agreement among results
  23. Sample size and rejection limits for detecting reagent lot variability: analysis of the applicability of the Clinical and Laboratory Standards Institute (CLSI) EP26-A protocol to real-world clinical chemistry data
  24. Effects of calcium dobesilate (CaD) interference on serum creatinine measurements: a national External Quality Assessment (EQA)-based educational survey of drug-laboratory test interactions
  25. Mass spectrometric sample identification with indicator compounds introduced via labeled sample tubes
  26. Automation and validation of a MALDI-TOF MS (Mass-Fix) replacement of immunofixation electrophoresis in the clinical lab
  27. A new strategy implementing mass spectrometry in the diagnosis of congenital disorders of N-glycosylation (CDG)
  28. Analytical evaluation of four faecal immunochemistry tests for haemoglobin
  29. Reference Values and Biological Variations
  30. Study of total error specifications of lymphocyte subsets enumeration using China National EQAS data and Biological Variation Data Critical Appraisal Checklist (BIVAC)-compliant publications
  31. Mass spectrometric quantification of urinary 6-sulfatoxymelatonin: age-dependent excretion and biological variation
  32. Establishment of international autoantibody reference standards for the detection of autoantibodies directed against PML bodies, GW bodies, and NuMA protein
  33. Hematology and Coagulation
  34. Appropriate thresholds for accurate screening for β-thalassemias in the newborn period: results from a French center for newborn screening
  35. Cardiovascular Diseases
  36. Analysis of B-type natriuretic peptide impurities using label-free data-independent acquisition mass spectrometry technology
  37. Diabetes
  38. Hemoglobin variants in southern China: results obtained during the measurement of glycated hemoglobin in a large population
  39. Potential of MALDI-TOF mass spectrometry to overcome the interference of hemoglobin variants on HbA1c measurement
  40. Acknowledgment
  41. Acknowledgment
  42. Letter to the Editors
  43. Measurement uncertainty estimation for derived biological quantities
  44. Non-reproducible cardiac troponin results occurring with a particular reagent lot
  45. Successfully meeting analytical expectations for the fast 0/1-h algorithm for NSTEMI by internal control procedures for cardiac troponin T
  46. Performance of perpendicular drop versus tangent skimming gating of M-protein in proficiency testing challenges
  47. Analytical evaluation of Reebio procalcitonin latex-enhanced immunoturbidimetric assay on the HITACHI Labospect 008AS
  48. Assessment of intraindividual agreement in prolactin results after post-polyethylene glycol precipitation test for the estimation of macroprolactin. Should the precipitation procedure be repeated in the same patient?
  49. Aggregation kinetic and temperature optimum of an EDTA-dependent pseudothrombocytopenia
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