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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 PDF[The impact and clinical implication of variants in the start codon of HBA gene on the phenotype of thalassemia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
Precision Medical Lab Center, People's Hospital of Yangjiang, Yangjiang, Guangdong 529500, China.
Objective: To analyze the correlation between variants in the start codon of the α-globin gene and phenotypes of thalassemia, so as to provide a basis for the diagnosis and prevention of α-thalassemia.
Methods: A retrospective study was conducted on 7 patients diagnosed by Yangjiang People's Hospital and Guangzhou Hybribio Co. Ltd.
[Analysis of genetic diagnosis results of 1 501 suspected Cases of thalassemia patients from 2020 to 2022].
Zhongguo Shi Yan Xue Ye Xue Za Zhi
December 2024
Central Laboratory, Guangxi Key Laboratory of Metabolic Reprogramming and Intelligent Medical Engineering for Chronic Diseases, The Second Affiliated Hospital of Guilin Medical University, Guilin 541199, Guangxi Zhuang Autonomous Region, China.
Article Synopsis
- The study investigates the prevalence and genotypes of thalassemia in Lingui District, Guilin City, helping to inform prevention strategies.
- A retrospective analysis of 1,501 suspected cases revealed a 45.17% carrier rate, with 379 α-thalassemia and 270 β-thalassemia cases identified.
- The findings highlight the complexity of thalassemia genotypes in the region, underscoring the need for genetic counseling and prenatal testing efforts.
Molecular Characterization of δβ Thalassemia/Hereditary Persistence of Fetal Hemoglobin and Its Correlation With Clinical and Hematological Profile; a Single Center Study in North India.
Int J Lab Hematol
December 2024
Department of Hematology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.
Background: δβ-thalassemia/HPFH is an uncommon hemoglobinopathy characterized by decreased or the total absence of production of δ- and β-globin and increased HbF levels. Both these disorders have variable genotype and phenotype, but significant overlap in the clinical and laboratory findings. Given the lack of literature in this regard, the study aimed to estimate the prevalence of the disease and evaluate its clinical, hematological, and molecular profile in India.
View Article and Find Full Text PDFA Variable Clinical Presentation of Hemoglobin City of Hope.
Clin Genet
December 2024
Department of Hematology-Oncology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
Hemoglobin City of Hope (Hb-COH), NC_000011.9(NM_000518.5):c.
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