Low HbA1c With Normal Hemoglobin in a Diabetes Patient Caused by PIEZO1 Gene Variant: A Case Report.

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  • Additional Information
    • Source:
      Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE
    • Publication Information:
      Original Publication: [Lausanne : Frontiers Research Foundation]
    • Subject Terms:
      Polymorphism, Single Nucleotide*; Biomarkers/*analysis ; Blood Glucose/*analysis ; Diabetes Mellitus, Type 2/*pathology ; Glycated Hemoglobin/*analysis ; Ion Channels/*genetics; Diabetes Mellitus, Type 2/blood ; Diabetes Mellitus, Type 2/drug therapy ; Diabetes Mellitus, Type 2/genetics ; Female ; Glucose Tolerance Test ; Humans ; Middle Aged ; Prognosis
    • Abstract:
      Background: Diabetes is a global disease with rapidly increasing prevalence in the world. Glycated hemoglobin (HbA1c) as an important indicator of diabetes could reflect the average serum glucose level over 120 days. However, when using HbA1c to diagnose diabetes, it is important to consider other factors that may impact HbA1c level including age, race/ethnicity, detection method, and co-morbidities. Here we report a case of diabetes with normal hemoglobin but reduced HbA1c. Case report: A 57-year-old female patient was diagnosed with diabetes by oral glucose tolerance test results. However, the HbA1c level was repeatedly decreased, glycated albumin level was high, with normal levels of hemoglobin and albumin, and a slightly elevated level of bilirubin. Moreover, life span of red blood cells was significantly shortened. Further examination of whole exome sequencing of the patient and her daughter showed heterozygous variant in PIEZO1 gene (c.6017T > A) in both, which is associated with dehydration hereditary stomatocytosis (DHS). After this diagnosis, we changed nateglinide to sitagliptin to reduce the burden of the pancreas islet function. Conclusion: In case of abnormally low HbA1c, we recommend that GA and reticulocyte should be measured simultaneously. Moreover, the methodology for hemoglobin measurement and the diseases that could cause abnormal quantity and quality of red blood cells and hemoglobin be considered.
      (Copyright © 2020 Song, Lu, Li, Lin, Yuan, Cheng, Xia, Wang and Xing.)
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    • Contributed Indexing:
      Keywords: PIEZO1 gene; diabetes; glycated albumin; glycated hemoglobin; hemolytic anemia
    • Accession Number:
      0 (Biomarkers)
      0 (Blood Glucose)
      0 (Glycated Hemoglobin A)
      0 (Ion Channels)
      0 (PIEZO1 protein, human)
      0 (hemoglobin A1c protein, human)
    • Publication Date:
      Date Created: 20200709 Date Completed: 20210528 Latest Revision: 20221207
    • Publication Date:
      20221213
    • Accession Number:
      PMC7318866
    • Accession Number:
      10.3389/fendo.2020.00356
    • Accession Number:
      32636802