Test Background

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, the RPL5 gene, the RPS19 gene, and the RPS24 gene.

Disorder(s)

Diamond-Blackfan anemia (DBA)

Gene(s)