Analysis of thalassemia genotypes and HbA2 test results in pregnant women in Shenzhen, China.

ABSTRACT: To examine the thalassemia genotypes and distribution among pregnant women in Shenzhen, as well as the diagnostic value of HbA2 in thalassemia screening, in order to provide scientific evidence for thalassemia prevention and control in this region. From January 2018 to June 2024, Shenzhen recorded 3243 cases of suspected thalassemia carriers. HbA2 was detected by hemoglobin electrophoresis analysis. The deletions of α-thalassemia mutation by gap-polymerase chain reaction (gap-PCR), and the non-deletion α-thalassemia mutations and β-thalassemia mutations were detected by reverse dot-blot hybridization (RDB-PCR). The receiver operating characteristic curve (ROC) was utilized to analyze the diagnostic value of HbA2 for pregnant women's thalassemia. A total of 656 carriers were detected in 324

SUBMITTER: Qian H 

PROVIDER: S-EPMC11876367 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature