Family trios/quartets analysis based on the Newborn Genomic Atlas for Thalassemia project in Guangxi.

ABSTRACT:

Background

Thalassemia, a hereditary hemolytic blood disorder, is characterized by high global allele prevalence and a gradually expanding variant spectrum. In Guangxi, China, routine genetic screening targeting hotspot variants of thalassemia has been implemented for over a decade, significantly reducing the incidence of severe cases. This study assessed the efficacy of the existing thalassemia screening protocol in Guangxi, China, by applying long-read sequencing (LRS) in family trios/quartets analysis for newborns.

Methods

This study enrolled 1491 families for the family trios/quartets analysis, among which at least one of the parents had undergone routine genetic screening for thalassemia. A total of 1516 newborns from these families were tested using LRS. The efficacy o

SUBMITTER: Wei W 

PROVIDER: S-EPMC12817661 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature