The genetic landscape of congenital neutropenia in Poland: summary of the nationwide screening campaign.

ABSTRACT: This work summarizes 15 years of genetic research on neutropenia in the Polish pediatric cohort, explores the distribution and spectrum of disease-causing genetic variants associated with congenital neutropenia in Poland, and demonstrates the impact of a nationwide information campaign on increasing the efficiency of patient recruitment. The study included 126 patients with suspected congenital neutropenia recruited in 2008-2019 and 291 patients recruited in 2020-2023 as part of the FixNet project, which featured a nationwide information campaign. Molecular analyses were performed using Sanger sequencing (91 patients) and targeted next-generation sequencing (NGS) (326 patients) in a panel of neutropenia-related genes. The information campaign significantly increased the number of referred

SUBMITTER: Babol-Pokora K 

PROVIDER: S-EPMC12689915 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature