Is Diamond Blackfan Anemia just another anemia?
_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 1st birthday with the
majority of cases found before 4 months old. The condition is extremely
rare, affecting approximately 105 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 two 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).
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 two 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).