The landscape of pediatric Diamond-Blackfan anemia in Switzerland: genotype and phenotype characteristics

Diamond-Blackfan anemia (DBA) is caused mainly by genetic mutations in large (RPL) or small ribosomal subunit genes (RPS) and presents with macrocytic congenital malformations. Clinical differences between genotypes are insufficiently understood. The aim of this study was to assess clinical features, treatment strategies, the Swiss pediatric DBA population. We retrospectively reviewed medical charts patients Switzerland stratified RPL versus RPS mutations. report 17 who were all genetically investigated. In our cohort, showed a wide spectrum presentations needs. found high proportion physical malformations (77%) including lower limb (17%) anorectal (12%) two presented both antepositioning anus needing surgery within first 15 months life. One these had sphincteric dysfunction, other coccygeal agenesis. that included an mutation more frequently tended have milder compared (median hemoglobin at diagnosis 76 g/l 22 g/l). Conclusion: illustrate Switzerland. Our findings highlight need take into consideration severe but also mild where present. Lower malformation extend DBA-associated