Objectives: Cation exchange high-performance liquid chromatography (HPLC) is one of the techniques available for determining glycated hemoglobin (HbA) and also the method of choice for structural hemoglobinopathies screening. The objective of this case is to show how in a routine HbA test it is possible to incidentally find a hemoglobinopathy.
Case Presentation: In a routine blood analysis, an abnormal value for the hemoglobin A2 (HbA) was obtained during the study of HbA with HPLC on the ADAMS™ A1c HA-8180T. After suspecting it could be due to the presence of a hemoglobinopathy, the study of possible variants was expanded using electrophoresis and HPLC on the Hydrasys and Variant II analysers, respectively. Since it could not be identified by these conventional methods, a genetic study was also carried out using Sanger sequencing. The patient presented a low HbA (1.3 %) and a 24.9 % variant with a retention time of 1.95 min, compatible with alpha-globin chain variant. In the genetic study, the pathogenic variant c.138C>G was detected in the gene in heterozygosis, which resulted in the expression of the structural hemoglobinopathy known as hemoglobin Bari.
Conclusions: The initial screening for structural hemoglobinopathies allows its identification or suspicion especially when it was performed with HbA analysis, requiring subsequent confirmation and diagnosis by other techniques.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10701480 | PMC |
| http://dx.doi.org/10.1515/almed-2023-0040 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
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.
Predicting Mortality and Hospitalization in Heart Failure With Preserved Ejection Fraction by Using Machine Learning.
JACC Asia
December 2024
Division of Cardiology, Department of Internal Medicine, Chang Gung Memorial Hospital at Linkou, and Chang Gung University College of Medicine, Taoyuan, Taiwan.
Background: Few studies have incorporated echocardiography and laboratory data to predict clinical outcomes in heart failure with preserved ejection fraction (HFpEF).
Objectives: This study aimed to use machine learning to find predictors of heart failure (HF) hospitalization and cardiovascular (CV) death in HFpEF.
Methods: From the Chang Gung Research Database in Taiwan, 6,092 HFpEF patients (2,898 derivation, 3,194 validation) identified between 2008 and 2017 were followed until 2019.
A β-Thalassemia Cell Biobank: Updates, Further Validation in Genetic and Therapeutic Research and Opportunities During (and After) the COVID-19 Pandemic.
J Clin Med
January 2025
Department of Life Sciences and Biotechnology, Ferrara University, 44121 Ferrara, Italy.
: Cellular biobanks are of great interest for performing studies finalized in the development of personalized approaches for genetic diseases, including β-thalassemia and sickle cell disease (SCD), important diseases affecting the hematopoietic system. These inherited genetic diseases are characterized by a global distribution and the need for intensive health care. The aim of this report is to present an update on the composition of a cellular Thal-Biobank, to describe its utilization since 2016, to present data on its application in studies on fetal hemoglobin induction and on gene editing, and to discuss its employment as a "unique tool" during and after the COVID-19 pandemic.
View Article and Find Full Text PDFGlycated Haemoglobin (HbA) in Cardiac Surgery: A Narrative Review.
J Clin Med
December 2024
Wessex Cardiothoracic Centre, Division of Cardiac Surgery, University Hospital Southampton NHS Foundation Trust, Southampton SO16 6YD, UK.
Perioperative dysglycaemia in cardiac surgery is associated with poor outcomes. Glycaemic variability rather than glucose levels is a predictor of the length of an ICU stay, a rise in creatinine and acute kidney injury after cardiac surgery. Glycated haemoglobin (HbA) values correspond closely to average blood glucose levels and cut-off values can be used to define a diabetic and pre-diabetic status.
View Article and Find Full Text PDFDiabetic Retinopathy Disease Burden in Patients With Lower Household Incomes vs Higher Household Incomes.
J Vitreoretin Dis
January 2025
Department of Ophthalmology, Duke University School of Medicine, Durham, NC, USA.
To assess the differences in measures of diabetic retinopathy (DR) disease burden between patients in high-income vs low-income ZIP codes when presenting to retina specialists. This retrospective cohort study comprised patients who presented to a retina specialist at Duke Eye Center between 2014 and 2023 for the management of DR. The quartile of patients with the highest income was compared with the quartile with the lowest income.
View Article and Find Full Text PDFWant 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!