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Thalassemia genetic screening of pregnant women with anemia in Northern China through comprehensive analysis of thalassemia alleles (CATSA).
Clin Chim Acta
January 2025
Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, National Clinical Research Centre for Obstetric & Gynecologic Disease, Beijing 100730 China. Electronic address:
Thalassemia is an inherited blood disorder and traditionally considered more prevalent in Southern China. However, with increased migration and intermarriage, more and more thalassemia carriers had been reported in Northern China. The lack of screening for thalassemia carriers may also result in missed diagnosis in Northern China.
View Article and Find Full Text PDFHemoglobinopathies Among Patients Referred to Single Centre in Central India: An Observational Study.
Indian J Clin Biochem
January 2025
ICMR-National Institute of Research in Tribal Health, Jabalpur, 482003 India.
Sickle cell disease (SCD) and thalassemia are the most common hereditary disorders encountered in Central India. Timely identification of these disorders is critical to reduction in severe clinical manifestations and for identifying disease burden. Present study reports spectrum of hemoglobinopathies among the referred anemia patients to single centre in central India.
View Article and Find Full Text PDFA next-generation sequencing-based universal target panel and algorithm for one-stop detection of copy number alterations and single-nucleotide variations in the HBB gene cluster for rapid diagnosis of β-thalassemia.
Mol Biol Rep
January 2025
Department of Zoology, The University of Burdwan, Bardhaman, West Bengal, 713104, India.
Background: This study aimed to develop and validate a targeted next-generation sequencing (NGS) panel along with a data analysis algorithm capable of detecting single-nucleotide variants (SNVs) and copy number variations (CNVs) within the beta-globin gene cluster. The aim was to reduce the turnaround time in conventional genotyping methods and provide a rapid and comprehensive solution for prenatal diagnosis, carrier screening, and genotyping of β-thalassemia patients.
Methods And Results: We devised a targeted NGS panel spanning an 80.
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.
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.
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