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Improving diagnosis and treatments for children with Diamond-Blackfan anaemia

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Action-funded researchers have found a potentially new explanation for anaemia in children with the rare disease, Diamond-Blackfan anaemia. This work can lead to new genetic screening for children with the disease and it is hoped these findings will provide new opportunities for earlier diagnosis and treatments.

Finley, a five-year-old boy, who has Diamond-Blackfan anaemia.

Diamond-Blackfan anaemia (DBA) is a rare genetic condition where a child’s bone marrow fails to produce enough red blood cells. Children with DBA, like Finley pictured above, are usually diagnosed with severe anaemia in their first year of life. They experience tiredness, breathlessness and headaches, and, along with delays in growth and puberty, they can also have an increased risk of developing cancer later in life.

Currently, the only cure is bone marrow transplantation which carries serious risks, whereas long-term treatment involving regular blood transfusions or steroid drugs can also cause complications.

Professor John Strouboulis and a team of researchers at King’s College London aimed to improve understanding of the underlying biological causes of the condition. The researchers tested specific faults in genes that are vital in the production of new red blood cells and, as a result of their Action-funded work, they now believe a vicious cycle involving genetic changes and reduced protein production, leads to decreasing production of red blood cells.

The team has also developed a diagnostic test to identify specific gene changes in over a quarter of children who previously had no genetic diagnosis for their DBA. The test can help improve diagnosis and assists doctors in providing appropriate treatment and care for these children.

Professor Strouboulis said: “Overall this work can lead to improved diagnosis and treatment of DBA at an early stage in the disease process, and it may open up new avenues for developing drugs to treat anaemia in DBA. There is hope a new diagnostic test could be available for use in the clinic in the next two years, or so.”