Clinical Guidance

DBA syndrome is characterized by early-onset hypoplastic anemia. Congenital anomalies are observed in approximately 50% of affected individuals and more than one anomaly is observed in up to 25% of individuals. Additional features include growth deficiency and predisposition to malignancy. Table 2. DBA Syndrome: Frequency of Select Features

Source: GeneReviews — "DBA Syndrome"

Penetrance

Penetrance is almost complete with loss-of-function variants in RPL5, RPS19, and RPS26. Penetrance is high with loss-of-function variants in other genes that encode ribosomal subunits. Missense variants (e.g., of RPS19) appear to be less penetrant .

Source: GeneReviews — "DBA Syndrome"

Differential Diagnosis

Acquired Disorders of Bone Marrow Erythroid Hypoplasia

Primary

• Transient erythroblastopenia of childhood

(TEC) is characterized by acquired anemia caused by decreased production of red blood cell precursors in a previously healthy child . The etiology of TEC is unknown, although an association with viral infections has been proposed. TEC is almost always self-resolving within one to several months and only requires clinical intervention (red blood cell transfusion) in severe cases. Features that distinguish TEC from DBA syndrome include older age at diagnosis: more than 80% of children with TEC are age one year or older at diagnosis. Only 10% of children with TEC have elevated erythrocyte adenosine deaminase activity. In children with TEC, anemia is normocytic.

Source: GeneReviews — "DBA Syndrome"

Clinical Guidance

Deferiprone is not recommended in the treatment of iron overload in persons with DBA syndrome except those with severe cardiac iron overload because its side effects include neutropenia . Individuals with DBA syndrome, especially those on corticosteroid treatment, should take reasonable precautions to avoid infections, as steroid-dependent individuals are more prone to complications resulting from immune system dysfunction.

Source: GeneReviews — "DBA Syndrome"

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "DBA Syndrome"