AI Article Synopsis

  • * A 53-year-old woman showed high HbA1c levels due to a hemoglobin variant discovered by capillary electrophoresis; her family also carried the same genetic mutation.
  • * Identifying the right HbA1c testing methods is essential for accurate results, especially in cases with abnormal readings; timely communication with clinicians and effective screening can enhance overall health outcomes.

Article Abstract

Background: Over a thousand types of hemoglobin variants have been reported. It is necessary to understand the impact of variants on the accuracy of various methods. The effect of hemoglobin variants on HbA1c determination depends on different detection methods.

Methods: A 53-year-old female presented with abnormally elevated glycated hemoglobin (HbA1c) in a routine medical check-up. Capillary electrophoresis (CE) indicated the presence of hemoglobin variant. In the family screening, we found her mother, sister, and daughter all had the same heterozygous mutation (c.397A > G, K133E) in the HBB gene.

Results: This is the first known familial case of Hb Takasago in China. Improving the understanding of hemoglobin variants has important medical significance. In the case of abnormal HPLC chromatograms, it is crucial to apply appropriate detection methods, find accurate causes, and communicate with clinicians in a timely manner.

Conclusions: The use of appropriate HbA1c detection methods that are not affected by related variants can ensure the accuracy of the results. In the existence of abnormal HPLC chromatograms, it is necessary to communicate with clinical clinicians. Given its heredity and prevalence, effective screening for abnormal hemoglobinopathies is of great significance for improving the quality of the population.

Download full-text PDF

Source
http://dx.doi.org/10.7754/Clin.Lab.2024.240729DOI Listing

Publication Analysis

Top Keywords

hemoglobin variants
12
abnormal hplc
8
hplc chromatograms
8
detection methods
8
hemoglobin
5
variants
5
abnormal
4
abnormal high
4
hba1c
4
high hba1c
4

Similar Publications

Background: Epidemics and pandemics have been shown to have widespread effects on health systems. Diabetes is a condition of particular risk during national emergencies such as the COVID-19 pandemic. The aim of this study is to determine the influence of COVID-19 in the patient's diabetes quality management.

View Article and Find Full Text PDF

Background: This study aimed to evaluate the efficacy of third-generation sequencing (TGS) and a thalassemia (Thal) gene diagnostic kit in identifying Thal gene mutations.

Methods: Blood samples (n = 119) with positive hematology screening results were tested using polymerase chain reaction (PCR)-based methods and TGS on the PacBio-Sequel-II-platform, respectively.

Results: Out of the 119 cases, 106 cases showed fully consistent results between the two methods, with TGS identified HBA1/2 and HBB gene mutations in 82 individuals.

View Article and Find Full Text PDF

Background: Hemoglobin G-Siriraj is a rare hemoglobin variant caused by a β-globin gene mutation (HBB: c.22G>A). The focus of this paper is aimed mainly at the chromatographic and electrophoretic properties of hemoglobin G-Siriraj for a presumptive identification.

View Article and Find Full Text PDF

Background: Glycosylated hemoglobin (HbA1c) is a stable compound in human blood that covalently binds the N-terminal valine residue of the β-chain in hemoglobin A to the free aldehyde group of glucose. It can reflect the average blood glucose level of patients in the past 2 - 3 months. Therefore, the accuracy of HbA1c detection results is of great significance for the diagnosis and differential diagnosis of diabetes.

View Article and Find Full Text PDF

Interaction between genetic risk score and dietary carbohydrate intake on high- density lipoprotein cholesterol levels: Findings from the Study of Obesity, Nutrition, Genes and Social factors (SONGS).

Clin Nutr ESPEN

January 2025

Hugh Sinclair Unit of Human Nutrition, Department of Food and Nutritional Sciences and Institute for Cardiovascular and Metabolic Research (ICMR), University of Reading, Reading, RG6 6DZ, UK; Institute for Food, Nutrition, and Health (IFNH), University of Reading, Reading, RG6 6AP, UK. Electronic address:

Background & Aims: Cardiometabolic traits are complex interrelated traits that result from a combination of genetic and lifestyle factors. This study aimed to assess the interaction between genetic variants and dietary macronutrient intake on cardiometabolic traits [body mass index, waist circumference, total cholesterol, high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol, triacylglycerol, systolic blood pressure, diastolic blood pressure, fasting serum glucose, fasting serum insulin, and glycated haemoglobin].

Methods: This cross-sectional study consisted of 468 urban young adults aged 20 ± 1 years, and it was conducted as part of the Study of Obesity, Nutrition, Genes and Social factors (SONGS) project, a sub-study of the Young Lives study.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!