How are children’s lives affected now?

Children born with congenital dyserythropoietic anaemia type 1 (CDA-1) have problems with the development of red blood cells. A shortage of these important cells prevents their blood from transporting enough oxygen around their body.

“A child with CDA-1 will usually have moderate to severe anaemia – with symptoms including tiredness, weakness, pale skin, shortness of breath and persistent headaches,” says Dr Babbs.

CDA-1 also causes the child’s body to absorb too much iron, which builds up and can damage tissues and organs – leading to other complications including heart failure, diabetes and liver disease.

Current treatments include regular blood transfusions and injections of a medicine called interferon-alpha – however, both can cause side effects. “Blood transfusions are time-consuming and carry a risk of infection, and  interferon-alpha doesn’t always work and can often cause unwanted short- or long-term effects that can reduce the child’s quality of life.”

How could this research help?

“We aim to gain a better understanding of the biological causes of CDA-1 – and identify key processes involved in red blood cell production,” says Dr Babbs.

Scientists have so far identified faults in two genes – CDAN1 and CDIN1 – that can cause CDA-1.

“We will carry out laboratory experiments on blood cells to explore how the protein molecules produced from these genes work – and how gene faults found in children with CDA-1 can change their behaviour,” says Dr Babbs.

The team will also investigate which biological processes are switched on by interferon-alpha and how this leads to improved red blood cell production. This could help them identify medicines that work similarly, but are more effective at treating CDA-1 with fewer side effects.

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.