Not only should symptomatic children with DBA be considered for further investigations, but also their families need genetic counseling as so-called silent DBA or carriers of RP mutations were found in relatives (sibling or parent) who are not anemic but have isolated macrocytosis, elevated eADA (erythrocyte adenosine deaminase enzyme) levels and/or a genetic mutation of the ribosomal protein [53]. This evidence concerns the gene BLOC1S3 and Diamond-Blackfan anemia.