Diamond-Blackfan anaemia: understanding the causes to improve diagnosis and treatment of children with the condition

Diamond-Blackfan anaemia (DBA) is a rare genetic condition where a child’s bone marrow fails to produce enough red blood cells. Affected children are usually diagnosed with severe anaemia in their first year of life. Currently, there is no cure and long-term treatment involving regular blood transfusions or steroid drugs can cause complications. Professor John Strouboulis of King’s College London is aiming to improve understanding of the underlying biological causes of the condition. This work could ultimately lead to new treatments – and improved diagnosis for around three in 10 children with DBA who do not currently have a confirmed genetic explanation.

How are children’s lives affected now?

Children born with DBA have problems with the production of red blood cells. As a result, they can’t carry enough oxygen around their body – leading to severe anaemia.

“An affected child will experience symptoms such as tiredness, breathlessness, headaches and pale skin,” says Professor Strouboulis. “Around half also have physical changes when they are born – and they are often short for their age and may have delayed puberty.” Children with DBA also have an increased risk of developing cancer later in life.

Researchers have identified several faulty ribosomal protein (RP) genes that cause the condition, which account for around seven out of 10 children with DBA. Most of these genes code the building blocks for tiny structures in cells called ribosomes, which process the cell’s genetic instructions to make proteins.

“If a cell’s ribosomes aren’t working properly, this leads to low levels of a protein called GATA1 that is essential for producing new red blood cells,” explains Professor Strouboulis.

Rare faults in the GATA1 gene itself have also been found in DBA patients, further highlighting the critical involvement of this protein in this type of anaemia.

How could this research help?

“We aim to improve understanding of the biology of DBA – and to identify other faulty genes that cause the condition,” says Professor Strouboulis.

The researchers have found evidence suggesting that the GATA1 protein, as part of its role in red blood production, may also be involved in  controlling genes that build the ribosomes themselves.

“We will carry out laboratory research to find out whether the GATA1 protein directly controls ribosome production in red blood cells – and if rare faults in this gene found in patients affect this process, leading to DBA,” says Professor Strouboulis.

The team will also explore the development of a new test that can identify faults in ribosomal genes switched on by the GATA1 protein that may account for some children with DBA who currently have no genetic diagnosis.

We do not provide medical advice. If you would like more information about a condition or would like to talk to someone about your health, contact NHS Choices or speak to your GP.