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Article

The global prevalence and ethnic heterogeneity of iron-refractory iron deficiency anaemia.

Orphanet journal of rare diseases - 5 Jan 2023

Fan Shanghua, Zhao Ting, Sun Liu

Abstract excerpt

BACKGROUND: Iron-refractory iron deficiency anaemia (IRIDA) is an autosomal recessive iron deficiency anaemia caused by mutations in the TMPRSS6 gene. Iron deficiency anaemia is common, whereas IRIDA is rare. The prevalence of IRIDA is unclear. This study aimed to estimate the carrier frequency and genetic prevalence of IRIDA using Genome Aggregation Database (gnomAD) data. METHODS: The pathogenicity of TMPRSS6...

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Identifiers

PMID: 36604716
DOI: 10.1186/s13023-022-02612-2
PMCID: PMC9814447

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