Information
Diamond-Blackfan anaemia
Diamond-Blackfan anaemia (DBA) is a rare congenital disease that presents as anaemia in most patients. It was first described in 1938 by the US paediatricians Louis Diamond and Kenneth Blackfan.
The leading symptom of DBA is a disorder of erythropoiesis (decreased production of red blood cells) in the bone marrow resulting in secondary anaemia. Anaemia predominantly occurs in infants or early childhood (10% at birth), but some patients are not diagnosed until they reach adulthood. In addition to anaemia, DBA is frequently associated with restricted growth and congenital malformations of, for example, the face, underarms and thumbs. Recent data suggests that DBA patients are at increased risk of cancer. There are now many known symptoms of DBA, with very variable presentations. There are many patients who have anaemia only, whilst others do not have anaemia requiring treatment but do have DBA-typical malformations. There are also cases where the anaemia goes into spontaneous remission and treatment is no longer required.
DBA is caused by mutations (defects in our genes or hereditary dispositions) that cause ribosomal malfunctions. Ribosomes are the body’s protein factories. The genetic defects that cause DBA to develop are either inherited from a parent or occur at very early stages in the embryo of the DBA patients.
The DBA register aims to record all patients with mutations in ribosomal genes but also patients with mutations in other genes such as CECR1 (the gene for ADA2), GATA1 or TSR2 where the underlying pathogenesis can lead to the clinical presentation of DBA despite there being no impairment in ribosome function.
Prognoses of patients with DBA have improved significantly in recent years. This is mainly due to a better understanding of the illness, compilation of treatment recommendations, greater awareness of the disease among medical professionals and generally steady progress on diagnostic and treatment options. Numerous complications can be avoided if DBA is identified at an early stage and specialist treatment provided. Many patients can live a mostly normal life with normal life expectancy. For DBA patients to receive optimal treatment they must be under the care of a specialist treatment team that works closely with GPs and paediatricians as well as haematologists and oncologists.
This section contains answers to some of the key questions that, in our experience, patients with DBA and their attending doctors have, and which are very important for understanding and coping with this congenital disease.