Diamond-Blackfan anemia is a rare form of anemia that is often accompanied by several physical anomalies. Blood workup may reveal a lack of production of red blood cells, however, other cell lines remain normal.
Diamond-Blackfan anemia (DBA) is a rare inherited bone marrow failure syndrome that usually presents in the first few years of life . Less than a quarter of cases are familial, following an autosomal dominant pattern . The majority of cases are sporadic mutations that can then be passed down to offspring.
DBA is thought to arise from a disturbance in ribosome formation, coded for by the ribosomal protein S19 (RPS19) gene . It is mainly defined by a hypoplastic, macrocytic anemia that may be accompanied by various congenital abnormalities . The white cell and platelet counts typically remain within, or just below, normal ranges .
DBA often presents with severe anemia in infancy or childhood, which may be fatal . Newborns may have a low birth weight, followed by growth retardation. Outward signs of disease are pallor, especially while feeding, and shortness of breath. There is usually no associated organomegaly.
It is estimated that half of the children affected by DBA also exhibit physical abnormalities. The craniofacial features of DBA are the most commonly occurring abnormalities, some of which are hypertelorism, microcephaly, microtia, cleft palate, and a flattened nasal bridge. Pierre-Robin syndrome, congenital glaucoma, and cataracts have also been described.
Musculoskeletal features include short stature, webbed neck, and upper limb deformities such as triphalangeal thumbs, and complete absence of the radius or forearm. Puberty may be delayed, however, the rest of the developmental history is normal. In contrast, intellectual disability is not a part of the syndrome. Other systems that are characteristically disturbed are the urogenital and cardiovascular systems . This results in conditions such as hypospadias, horseshoe kidneys, ventricular septal defect, atrial septal defect, and coarctation of the aorta.
In addition to the above, children with DBA have a higher risk of developing leukemia and various solid tumors, exemplified by acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and osteosarcoma .
The diagnosis of Diamond-Blackfan anemia can be made based on family history, prenatal genetic testing in cases of known mutations, as well as a raised erythrocyte adenosine deaminase (EAD) .
Further laboratory tests include: