During development, the α- and β-globin genes exhibit a highly conserved pattern of expression, giving rise to several developmental stage-specific hemoglobin variants. Networks of regulatory proteins interact with epigenetic complexes to regulate DNA accessibility and histone modifications, thereby determining appropriate patterns of globin gene expression. In this review, we focus on recent advances in the understanding of the molecular mechanisms that underpin globin gene expression, focusing on multi-subunit regulatory complexes that bind to specific regions of DNA to orchestrate globin gene transcription throughout development.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1016/j.bbagrm.2017.01.014 | DOI Listing |
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.
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 PDFHemoglobin
January 2025
Pediatric Hematology-Oncology Unit, Advanced Pediatrics Center, Department of Pediatrics, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
Arch Pathol Lab Med
January 2025
the Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, Philadelphia (Pozdnyakova).
Context.—: The College of American Pathologists Hematology and Clinical Microscopy Committee implemented a hemoglobinopathy proficiency testing and education program to monitor and assess the performance of participating laboratories.
Objective.
Mol Biotechnol
January 2025
Department of Pharmaceutical Chemistry, Faculty of Pharmacy, University of Tabuk, Tabuk, Saudi Arabia.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!