DNA analysis of a Northern Thai family with a child affected with beta-thalassemia major revealed a novel deletion of 3.4 kb removing the entire beta-globin gene in the proposita and her mother. Detailed mapping of the deletion located the 5' breakpoint in the region between nucleotides -810 and -128 of the beta-globin locus, and the 3' breakpoint between the Ava II and Xmn I sites located downstream of the beta-globin gene. The father transmitted a codon 17 nonsense mutation, a beta-thalassemia variant common in Thailand, to the child.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.3109/03630269009046957 | 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.
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 PDFCoexisting β-Thalassemia Trait, Gilbert Syndrome and Alpha-Globin Gene Triplication in a Child with Non-Transfusion Dependent Thalassemia Phenotype.
Hemoglobin
January 2025
Pediatric Hematology-Oncology Unit, Advanced Pediatrics Center, Department of Pediatrics, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
An 18-Year Review of Hemoglobinopathy Proficiency Testing: Recommendations From the College of American Pathologists Hematology and Clinical Microscopy Committee.
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.
Identification of a β-Globin Gene Mutation with the Genotype β-28(A > G), IVS-I-5(G > A)/βCD 71/72(+A) Using Third-Generation Sequencing.
Hemoglobin
January 2025
Precision Medical Lab Center, People's Hospital of Yangjiang, Yangjiang, Guangdong, People's Republic of China.
This study presents the hematological and genetic analysis of a child with severe β-thalassemia harboring triple heterozygous mutations. The child, diagnosed with anemia at the age of 1 year, became transfusion-dependent and maintained a hemoglobin level of 72.00-84.
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!