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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 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.
First Reported Case of Hemoglobin H Disease Caused by the Rare α-Globin Gene Mutation ( c.244delT) in a Chinese Family.
Hemoglobin
January 2025
Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center affiliated with Guangzhou Medical University, Guangzhou, Guangdong Province, China.
Microcytosis of red cells and mild anemia are common in thalassemia carriers but those phenotypes are not specific. It is really a challenge for clinical interpretation of those variants. Co-segregation with disease in affected family members or specific phenotypes such as the abnormal Hb H are very helpful to assess the pathogenicity of rare variants.
View Article and Find Full Text PDF[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.
[Application Analysis of Screening for Thalassemia in the Population of Childbearing Age in Quanzhou].
Zhongguo Shi Yan Xue Ye Xue Za Zhi
December 2024
Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou 362000, Fujian Province, China.
Objective: To analyze the application value of MCV, MCH and HbA in screening for thalassemia in the population of childbearing age in Quanzhou area, and to determine the optimal screening cut-off value of relevant indicators in this area.
Methods: 2 725 couples of childbearing age were included in the study and underwent routine blood test, capillary hemoglobin electrophoresis, and α and β thalassemia gene test. Statistical methods were used to analyze the distribution of thalassemia genotypes, and compare the performance of MCV, MCH, and HbA in screening various types of thalassemia.
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