تقرير
False HbA1cValue due to a Rare Variant of Hemoglobin J-Cubujuqui.
| العنوان: | False HbA1cValue due to a Rare Variant of Hemoglobin J-Cubujuqui. |
|---|---|
| المؤلفون: | Ye L, Huang Y, Zheng L, Shen X, Liang L, Li Y |
| المصدر: | Clinical laboratory [Clin Lab] 2023 Oct 01; Vol. 69 (10). |
| نوع المنشور: | Case Reports |
| اللغة: | English |
| بيانات الدورية: | Publisher: Clinical Laboratory Publications Country of Publication: Germany NLM ID: 9705611 Publication Model: Print Cited Medium: Internet ISSN: 1433-6510 (Print) Linking ISSN: 14336510 NLM ISO Abbreviation: Clin Lab Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: 2010- : Mainz : Clinical Laboratory Publications Original Publication: Heidelberg : Verlag Klinisches Labor, [1997- |
| مواضيع طبية MeSH: | Hemoglobin J*/analysis , Hemoglobin J*/genetics , Hemoglobins, Abnormal*/genetics , Hemoglobins, Abnormal*/analysis, Humans ; Female ; Infant, Newborn ; Mutation ; Glycated Hemoglobin/genetics ; Electrophoresis, Capillary ; Chromatography, High Pressure Liquid |
| مستخلص: | Background: Hemoglobin (Hb) J-Cubujuqui is a rare Hb variant, and reports about it are very limited. There are no descriptions that it affects the results of glycated Hb. Methods: In this study, we describe a rare variant discovered during newborn screening. Both high-performance liquid chromatography (HPLC) and capillary electrophoresis for hemoglobin analysis displayed abnormal peaks. The Hb variant was confirmed by Sanger sequencing. Results: The pedigree study shows the variant was inherited from the newborn's father. His fasting blood glucose (FBG) level was 5.5 mmol/L. HbA1c measured by HPLC was falsely low in her father (2.41%), whereas that measured by immunoassay was normal (5.11%). Sanger sequencing revealed a heterozygous mutation (CGT˃AGT) at amino acid position 141 of the α1 gene, corresponding to Hb J-Cubujuqui [α1 141(HC3) Arg→Ser (CGT˃AGT); HBA1:c.424C˃A (or HBA2)]. Conclusions: This is the first report that Hb J-Cubujuqui interferes with the measurement of HbA1cand prompts clinicians to pay attention to the accuracy of glycated Hb results. |
| المشرفين على المادة: | 58128-48-6 (Hemoglobin J) 0 (Hemoglobins, Abnormal) 0 (Glycated Hemoglobin) |
| تواريخ الأحداث: | Date Created: 20231016 Date Completed: 20231101 Latest Revision: 20231101 |
| رمز التحديث: | 20231215 |
| DOI: | 10.7754/Clin.Lab.2023.230502 |
| PMID: | 37844042 |
| قاعدة البيانات: | MEDLINE |
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