Description:
<jats:title>Summary</jats:title><jats:p>Diamond‐Blackfan anaemia (<jats:styled-content style="fixed-case">DBA</jats:styled-content>) is an inherited disease characterized by pure erythroid aplasia that has been tagged as a ‘ribosomopathy’. We report a multi‐centre study focused on the analysis of <jats:styled-content style="fixed-case">rRNA</jats:styled-content> processing of 53 Italian <jats:styled-content style="fixed-case">DBA</jats:styled-content> patients using capillary electrophoresis analysis of <jats:styled-content style="fixed-case">rRNA</jats:styled-content> maturation of the 40S and 60S ribosomal subunits. The ratio of 28S/18S <jats:styled-content style="fixed-case">rRNA</jats:styled-content> was higher in patients with mutated ribosomal proteins (<jats:styled-content style="fixed-case">RP</jats:styled-content>s) of the small ribosomal subunit. In contrast, patients with mutated <jats:styled-content style="fixed-case">RP</jats:styled-content>s of the large ribosomal subunit (<jats:styled-content style="fixed-case">RPL</jats:styled-content>s) had a lower 28S/18S ratio. The assay reported here would be amenable for development as a diagnostic tool.</jats:p>