Publications by authors named "Bi-Yan Chen"
[Analysis of Thalassemia Gene Mutation Types and Ethnic Distribution Characteristics in Hechi Area, Guangxi].
Zhongguo Shi Yan Xue Ye Xue Za Zhi
August 2024
Objective: To investigate the genotype, mutation type, and ethnic distribution characteristics of thalassemia in the population of Hechi area, Guangxi, and to provide a reference basis for prevention and control of thalassemia and eugenic counseling in the region.
Methods: Gap-polymerase chain reaction (gap-PCR) and reverse dot blot (RDB) were used for genetic testing on suspected thalassemia persons, and the results were analyzed.
Results: Among 29 136 samples, a total of 17 016 (58.
[Analysis of Genotype and Hematological Characteristics in South Guangxi].
Zhongguo Shi Yan Xue Ye Xue Za Zhi
December 2023
Objective: To investigate the detection rate and hematologic phenotype of thalassemia in south Guangxi, in order to provide reference for the prevention and control of thalassemia and prenatal and postnatal care consultation in this region.
Methods: Gene testing was performed on pre-marital medical examinations, pre-pregnancy eugenic health examinations, prenatal examinations and hospitalized thalassemia-positive persons in south of Guangxi, and the results were analyzed.
Results: A total of 183 190 thalassemia patients were included in this study, the age was mainly concentrated in 26-35 years old (101 709 cases, accounting for 55.
[Gene Mutation Types of Thalassemia in Chongzuo Childbearing-age Population of Guangxi Zhuang Autonomous Region of China].
Zhongguo Shi Yan Xue Ye Xue Za Zhi
December 2023
Article Synopsis
- The study aimed to analyze thalassemia gene mutations in childbearing age individuals in the Chongzuo area of Guangxi, identifying various gene mutations using specific genetic testing methods.
- Out of 29,266 cases tested, 65.36% were identified with thalassemia, with α-thalassemia being the most prevalent at 45.25%, followed by β-thalassemia at 15.47%.
- The research found different genotypes and mutation rates, revealing specific dominant gene mutations and their relation to anemia severity in detected cases.
Article Synopsis
- Thalassemia is the most prevalent genetic disorder globally, where identifying mutations is crucial for proper diagnosis and management.
- Standard tests often miss rare mutations, creating challenges for clinical labs in accurately diagnosing patients.
- A case study revealed a novel 71.8kb deletion affecting crucial genes responsible for α-thalassemia, leading to a proposed procedure for better identifying unusual mutations in thalassemia patients.
[Genotypes and clinical features of 595 children with HbH disease in Guangxi, China].
Zhongguo Dang Dai Er Ke Za Zhi
September 2015
Objective: To investigate the genotypes and clinical features of children with HbH disease in Guangxi Zhuang Autonomous Region, China.
Methods: A total of 595 children from Guangxi were recruited. Single-tube multiplex polymerase chain reaction combined with agarose gel electrophoresis, as well as reverse dot blotting, were performed to detect the three α-globin gene deletion mutations (--(SEA), -α(3.