Detection of maternal carriers of common α-thalassemia deletions from cell-free DNA.

ABSTRACT: α-Thalassemia is a common inherited blood disorder manifested mainly by the deletions of α-globin genes. In geographical areas with high carrier frequencies, screening of α-thalassemia carrier state is therefore of vital importance. This study presents a novel method for identifying female carriers of common α-thalassemia deletions using samples routinely taken for non-invasive prenatal tests for screening of fetal chromosomal aneuploidies. A total of 68,885 Vietnamese pregnant women were recruited and α-thalassemia statuses were determined by gap-PCR, revealing 5344 women (7.76%) carried deletions including αα/--^SEA (4.066%), αα/-α^3.7 (2.934%), αα/-α^4.2 (0.656%), and rare genotypes (0.102%). A two-stage model was built to predict these α-thalassemia deleti

SUBMITTER: Doan PL 

PROVIDER: S-EPMC9363435 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature