Diamond-Blackfan anaemia
Understanding the causes to improve diagnosis and treatment of children with this condition
Diamond-Blackfan anaemia (DBA) is a rare genetic condition caused by a lack of healthy red blood cells that carry oxygen around the body, which leads to severe anaemia.
Children endure symptoms such as persistent tiredness, breathlessness, pale skin, headaches, rapid heartbeat and difficulty in concentrating. Around half of children also have physical changes. They are often short for their age and may have delayed puberty.
Children can also experience heart and kidney complications and have an increased risk of developing certain cancers, especially leukaemia.
Currently, there is no cure and long-term treatment involving regular blood transfusions or steroid drugs can cause serious complications.
For most children, DBA is caused by faulty ribosomal genes that result in low levels of a protein called GATA1 that are essential for producing new red blood cells. But for some children there is currently no genetic explanation.
The research, led by Professor John Strouboulis at King’s College London, hopes to change this by better understanding the genetic causes of DBA, that could help unlock vital new treatments.
Professor Strouboulis and his team have already found exciting new evidence to suggest that the GATA1 protein, as part of its role in producing new red blood cells, may also control the genes that build the ribosomes themselves.
In addition, faults in the GATA1 gene itself have also been identified within DBA patients. The researchers now plan to investigate these discoveries further and carry out laboratory research to better understand the critical role of this protein in causing DBA.
If successful this work could ultimately lead to new treatments and help with the development of a new diagnostic test, to provide important answers for children who currently have no genetic diagnosis for the disease.
Building knowledge about the underlying causes of anaemia in DBA could lead to new treatments and improved diagnosis for children and their families affected by this condition.
GIVE CHILDREN FIGHTING DBA THE GREATEST GIFT
100% of your donation* this Christmas will support this vital research, that could help give children born with DBA the best chance in life.
*Any donations raised in excess of the £105,826 project cost, will be used wherever the need is greatest.