Background: Hemoglobinopathies include thalassemia syndromes, where production of one or more globin subunits of hemoglobin (Hb) is reduced, and structural Hb variants. Over 1000 disorders of Hb synthesis and/or structure have been identified and characterized, with phenotypes ranging from having severe clinical manifestations to clinically silent. Various analytical methods are used to phenotypically detect Hb variants. However, molecular genetic analysis is a more definitive method for Hb variant identification.
Case Report: Here, we report a case of a 23-month-old male with results from capillary electrophoresis, gel electrophoresis (acid and alkaline), and high-performance liquid chromatography most consistent with HbS trait. Specifically, capillary electrophoresis showed slightly elevated HbF and HbA2, HbA of 39.4% and HbS of 48.5%. The HbS percentage was consistently higher than expected (typically 30-40%) for HbS trait with no concurrent thalassemic indices. The patient has not experienced any clinical complications due to the hemoglobinopathy and he is thriving.
Conclusion: Molecular genetic analysis revealed the presence of compound heterozygosity for HbS and Hb Olupona. Hb Olupona is an extremely rare beta-chain variant that appears as HbA on all three common methods used for phenotypic Hb analysis. When the fractional concentration of Hb variants is unusual, more definitive methods should be used, such as mass spectrometry or molecular genetic testing. In this case, incorrectly reporting this result as HbS trait is unlikely to have a significant clinical impact, as current evidence suggests Hb Olupona is not a clinically significant variant.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.clinbiochem.2023.110589 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Molecular mechanisms of cis-oxygen bridge neonicotinoids to Apis mellifera Linnaeus chemosensory protein: Surface plasmon resonance, multiple spectroscopy techniques, and molecular modeling.
Ecotoxicol Environ Saf
January 2025
State Key Laboratory for Biology of Plant Diseases and Insect Pests, Institute of Plant Protection, Chinese Academy of Agricultural Sciences, Beijing 100193, China. Electronic address:
Honeybees, essential pollinators for maintaining biodiversity, are experiencing a sharp population decline, which has become a pressing environmental concern. Among the factors implicated in this decline, neonicotinoid pesticides, particularly those belonging to the fourth generation, have been the focus of extensive scrutiny due to their potential risks to honeybees. This study investigates the molecular basis of these risks by examining the binding interactions between Apis mellifera L.
View Article and Find Full Text PDFInducers of Autophagy and Cell Death: Focus on Copper Metabolism.
Ecotoxicol Environ Saf
January 2025
State Key Laboratory of Swine and Poultry Breeding Industry, Farm Animal Genetic Resources Exploration and Innovation Key Laboratory of Sichuan Province, College of Animal Science and Technology, Sichuan Agricultural University, Chendu 611130, PR China. Electronic address:
Copper is an essential trace element in biological systems, playing a key role in various physiological functions, including redox reactions and energy metabolism. However, an imbalance in copper homeostasis can induce oxidative stress, mitochondrial dysfunction, and inhibition of the ubiquitin-proteasome system, ultimately leading to significant cytotoxicity and cell death. According to recent research, copper can bind to lipoylation sites on proteins involved in the tricarboxylic acid cycle, causing aggregation of lipoylated proteins, the loss of Fe-S cluster proteins, proteotoxic stress, and ultimately, cell death.
View Article and Find Full Text PDFAcute physical exercise and ambulatory blood pressure in resistant hypertension.
J Hypertens
November 2024
Faculty of Sport Sciences, Universidad Europea de Madrid.
Objectives: The effects of acute physical exercise in patients with resistant hypertension remain largely unexplored compared with hypertensive patients in general. We assessed the short-term effects of acute moderate-intensity (MICE) and high-intensity interval exercise (HIIE) on the clinic (BP) and 24-h ambulatory blood pressure (ABP) of patients with resistant hypertension.
Methods: Using a crossover randomized controlled design, 10 participants (56 ± 7 years) with resistant hypertension performed three experimental sessions: MICE, HIIE, and control.
Guest Segregation in Heteromeric Multicage Systems.
J Am Chem Soc
January 2025
Department of Chemistry and Chemical Biology, TU Dortmund University, Otto-Hahn Str. 6, 44227 Dortmund, Germany.
Dynamically interconvertible metallo-supramolecular multicomponent assemblies, coexisting orthogonally in solution, serve as simplified mimics for complex networks found in biological systems. Building on recent advances in controlling the nonstatistical self-assembly of heteroleptic coordination cages and heteromeric completive self-sorting, i.e.
View Article and Find Full Text PDFArtificial Intelligence-Powered Human Epidermal Growth Factor Receptor 2 and Tumor Microenvironment Analysis in Human Epidermal Growth Factor Receptor 2-Amplified Metastatic Colorectal Cancer: Exploratory Analysis of Phase II TRIUMPH Trial.
JCO Precis Oncol
January 2025
Translational Research Support Office, National Cancer Center Hospital East, Chiba, Japan.
Purpose: Human epidermal growth factor receptor 2 (HER2)-targeted therapies have shown promise in treating -amplified metastatic colorectal cancer (mCRC). Identifying optimal biomarkers for treatment decisions remains challenging. This study explores the potential of artificial intelligence (AI) in predicting treatment responses to trastuzumab plus pertuzumab (TP) in patients with -amplified mCRC from the phase II TRIUMPH trial.
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!