NGS identifies novel HLA-DQA1 and DPB1 associations with aplastic anemia in the Kazakhstani population.

ABSTRACT:

Background

Aplastic anemia (AA) is a rare but serious blood disorder defined by autoimmune-driven destruction of bone marrow stem and progenitor cells. HLA polymorphisms are AA risk factors, with population-specific associations influencing disease susceptibility, treatment response, and transplant outcomes. While the genetic pathways driving AA development remain incompletely elucidated, a link between HLA variants and AA predisposition has been documented across diverse ethnic groups, though not in Central Asian communities, particularly in Kazakhstan.

Objective

We investigated the relationship between HLA Class I and Class II alleles and the risk of AA in the Kazakhstani population using high-resolution NGS genotyping.

Methods

The study included 91 patients with AA

SUBMITTER: Turganbekova A 

PROVIDER: S-EPMC12916586 | biostudies-literature | 2026

REPOSITORIES: biostudies-literature