Patients with Diamond-Blackfan anemia (DBA) usually present in infancy with hypoplastic anemia and macrocytosis. Approximately 50% of patients have congenital malformations including anomalies of the thumb and/or upper limbs and congenital heart malformations. About 30% have delayed growth. Patients with DBA are at increased risk of developing leukemia. Most cases (55-60%) of DBA are sporadic, while 40-45% of cases are familial. Most familial cases show an autosomal dominant inheritance pattern. Approximately 25% of patients with DBA have a mutation in the gene encoding ribosomal protein S19 (RPS19), 2% have a mutation in the gene encoding ribosomal protein S24 (RPS24), 6.6% have a mutation in the gene encoding ribosomal protein L5 (RPL5), and 4.8% have a mutation in the gene encoding ribosomal protein L11 (RPL11). This laboratory performs Sanger sequencing of the RPL11 gene.
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The majority of cases are due to variants in the RPS19 gene. Therefore, it is recommended to start with sequencing of RPS19 followed by sequencing of the remaining three genes, RPS24, RPL5, and RPL11.
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