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

Orphanet Journal of Rare Diseases

Research

Liu Sun¹  Ting Zhao²  Shanghua Fan³ 

[1] Department of Information Technology, School of Mathematics and Information Technology, Yuxi Normal University, 653100, Yuxi, China;Department of Neurology, Henan Provincial People’s Hospital, People’s Hospital of Zhengzhou University, 450003, Zhengzhou, China;Department of Neurology, Renmin Hospital of Wuhan University, 430060, Wuhan, China;

关键词: Iron-refractory iron deficiency anaemia (IRIDA);    Carrier frequency;    Genetic prevalence;    Genome aggregation database (gnomAD);    TMPRSS6;    Rare diseases;   

DOI  :  10.1186/s13023-022-02612-2

 received in 2022-11-01, accepted in 2022-12-29,  发布年份 2022

来源: Springer

【 摘 要 】

BackgroundIron-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.MethodsThe pathogenicity of TMPRSS6 variants was interpreted according to the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) standards and guidelines. The minor allele frequency (MAF) of TMPRSS6 gene disease-causing variants in 141,456 unique individuals was examined to estimate the global prevalence of IRIDA in seven ethnicities: African/African American (afr), American Admixed/Latino (amr), Ashkenazi Jewish (asj), East Asian (eas), Finnish (fin), Non-Finnish European (nfe) and South Asian (sas). The global and population-specific carrier frequencies and genetic prevalence of IRIDA were calculated using the Hardy–Weinberg equation.ResultsIn total, 86 pathogenic/likely pathogenic variants (PV/LPV) were identified according to ACMG/AMP guideline. The global carrier frequency and genetic prevalence of IRIDA were 2.02 per thousand and 1.02 per million, respectively.ConclusionsThe prevalence of IRIDA is greater than previous estimates.

【 授权许可】

CC BY   
© The Author(s) 2023

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