What is Diamond Blackfan Anaemia?

Diamond Blackfan Anaemia (DBA) is a blood condition caused by a failure within the bone marrow. It is characterized by an inability to produce red blood cells (necessary to transport oxygen around the body). It is typically diagnosed before the patients 2nd birthday with the majority of cases found before 4 months old. The condition is extremely rare, affecting approximately 125 people in the UK and only 600-700 world-wide.
The exact cause is not clear, but the problem seems to be a fault in one of the early steps of red blood cell production. In up to 25 per cent of affected children there is a fault within a gene called RPS19 (short for 'small ribosomal protein 19'). Research is taking place to try to identify the genes that are damaged in the other 75 per cent, with some promising leads, but no definite answers as yet.
The condition is named after the 2 doctors who first documented cases in the 1930's. Dr. Louis Diamond (the founder of the Haematology/Oncology branch at Children's Hospital in Boston, USA) and Dr. Kenneth D. Blackfan (the Chief of the Pediatric Department).
Synonyms
- Congenital Pure Red Cell Anaemia
- Congenital Pure Red Cell Aplasia
- Chronic Congenital Aregenerative Anaemia
- Constitutional Erythroid Hypoplasia
- DBA
- DBS
- Diamond-Blackfan Anaemia
- Erythrogenesis Imperfecta
- Estren-Dameshek variant of Fanconi Anaemia
- Hypoplastic Congenital Anaemia
- Blackfan-Diamond Anaemia
About DBA-UK
DBA UK is the UK based parent support group for the condition Diamond Blackfan Anaemia (DBA), and a registered charity - No.1083179. With so few cases in the UK this rare condition leaves parents and patients feeling very isolated, as many of the Health Service staff they come into contact with will have never heard of the condition, let alone be aware of its treatment and prognosis.
The support group is made up of parents, family and friends of patients with DBA, along with the patients themselves. The charity aims to provide support for these families by bringing them together to provide mutual help. Sometimes just talking to someone who understands can be a relief in itself.
Thanks to MacHosting for providing the web hosting for the group