Anaemia: understanding the causes of a rare inherited anaemia to improve its diagnosis and treatment

Congenital dyserythropoietic anaemia type 1 (CDA-1) is a rare, inherited type of anaemia. The condition is usually diagnosed in childhood and can seriously affect a child’s everyday life. Dr Chris Babbs of the University of Oxford is carrying out laboratory research on blood cells to improve understanding of the underlying biology of CDA-1. The results could help improve diagnosis and lead to safe and effective new treatments for children with the condition. In the longer term, developing drugs that can boost red blood cell production could help large numbers of children worldwide who are affected with more common anaemias.

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.

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