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

Conclusion: We illustrate the wide clinical and genetic spectrum of DBA in Switzerland. Our findings highlight the need to take this diagnosis into consideration in patients with severe anemia but also in patients with mild anemia where malformations are present. Lower limb and anorectal malformation extend the spectrum of DBA-associated malformations.What is Known?•There is a large variation in the phenotype of Diamond-Blackfan Anemia (DBA) and diversity of genetic mutations.•Malformation of the upper limbs, head and face, heart, and genitourinary system is frequently identified.What is New?• Patients with lower limb and anorectal malformations were repetitively found in our cohort enlarging the clinical spectrum of malformations.• We show two patients of the same family with a DBA-like condition where the same RPL17 variant was identified.
Source: European Journal of Pediatrics - Category: Pediatrics Source Type: research