Diamond-Blackfan anemia (DBA) is a rare disease that is characterized by a shortage of red blood cells. Platelets and white blood cell counts are typically normal. Some patients with DBA have malformed thumbs, or cleft lip or palate, receeding chin, kidney abnormalities, or heart abnormalities, and may be short in stature. Although, some patients have no apparent clinical signs of this disease other than anemia.
About seven in one million will be diagnosed. Up to 50 percent of DBA cases are inherited. Although a diagnosis of DBA can be made throughout a person’s life, most often it is diagnosed before the age of one year. DBA patients at higher risk for developing leukemia or sarcoma than that of the general population.
DBA belongs to a rare group of genetic disorders called inherited bone marrow failure syndromes that lead to bone marrow failure, congenital anomalies, and possibly cancer.
DBA symptoms of anemia include pale skin, fatigue, shortness of breath, tiring during feeding in infants, and tachycardia (fast heartbeat). Physical characteristics may include short stature, clef lip and clef palate, and thumb malformations.
Children usually appear to be affected with DBA by about two months of age but some patients may have anemia at birth. Most patients are diagnosed within the first year of life, but in some cases the disease may not be diagnosed until adulthood. The severity of the anemia is highly variable and may change over time.
Genetic testing may identify mutations in one of the genes associated with DBA.
DBA is a rare condition. Twenty-five percent of patients have mutations in the RPS19 genes. (The RPS19 gene encodes a ribosomal protein that is a component of the 40S subunit.) Mutations in additional ribosomal genes, such as RPS17, RPS24, RPL35A, RPL11, and RPL5, also cause DBA. Over half of patients with DBA do not have a mutation in one of the known DBA genes and it is likely that additional DBA genes remain to be identified. Patients with DBA usually have increased red cell enzymes called adenosine deaminase.