The DBA registry
Diamond-Blackfan anaemia (DBA) has been the subject of intensive research in German-speaking countries since the early 1990s based on studies and registers run by the Society of Paediatric Oncology and Haematology (Gesellschaft der Pädiatrischen Hämatologie und Onkologie or GPOH) and the German Society for Haematology and Medical Oncology (Deutsche Gesellschaft für Hämatologie und Onkologie or DGHO). The current DBA register builds on the DBA 2000 study carried out by the GPOH and DGHO. More than 600 patients with DBA are currently on the register, most of them resident in Germany.
The goals of the DBA register are to optimise treatment of DBA patients by issuing standardised recommendations on diagnosis and treatment and recording the various progressions of the disease. It focuses particularly on the use of molecular genetics to clarify the aetiology of the disease in, as far as possible, all patients with DBA and on recording the health status of adult DBA patients with respect to potential long-term complications. An online module for self-submission of patient data will shortly be available for this purpose..
The DBA register collaborates closely with patients and their families in the Diamond-Blackfan-Anämie- Selbsthilfe e.V. (www.diamond-blackfan.de). The management of the DBA register is pleased to provide consultancy/advice to attending doctors and patients. It also coordinates diagnostics referrals, including diagnosis of blood smears and bone marrow samples, conducting molecular genetic diagnostic tests and cytogenetic testing. See the Download section for more information.
The DBA Register is sponsored by the Eva Uth Foundation, Friesenheim (Baden).
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.