TMPRSS6 Non-Coding Variants in the Expression of Iron Refractory Iron Deficiency Anemia in Monoallelic Subjects.

ABSTRACT:

Background

Iron-refractory iron deficiency anemia (IRIDA) is a rare hereditary disorder caused by pathogenic variants in TMPRSS6, characterized by microcytic anemia, low circulating iron levels, and inappropriately high hepcidin levels. Although IRIDA is typically an autosomal recessive disorder, some individuals with a monoallelic pathogenic exonic TMPRSS6 variant exhibit the phenotype, suggesting additional contributing factors. The mechanisms underlying monoallelic IRIDA remain unclear, complicating diagnosis. This study aimed to investigate the potential role of non-coding TMPRSS6 variants and polygenic inheritance in monoallelic IRIDA.

Methods

We performed full-gene sequencing of TMPRSS6 in a cohort of 27 subjects, including 6 families (7 sym

SUBMITTER: Hoving V 

PROVIDER: S-EPMC12841354 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature