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Anaemia – improving diagnosis and treatment for severe anaemia

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What did the project achieve?

“Our work has helped improve the accurate diagnosis of children with anaemia, which will help guide their treatment and enable more families to access genetic counselling,” says Dr Christian Babbs of the MRC Weatherall Institute of Molecular Medicine in Oxford. “We also improved our understanding of how the protein molecules involved in inherited anaemia work – which we hope will help us to identify other genetic causes and ultimately lead to new drug treatments.”

Anaemia is a condition that affects red blood cells. A child may feel tired, weak and have pale skin – and sometimes will need regular blood transfusions. Many different things can cause anaemia, including a poor diet, infectious disease – or it can also be inherited. A child’s treatment will depend on the exact cause of their condition.

Dr Babbs’ team is studying a rare, inherited form of anaemia called congenital dyserythropoietic anaemia type 1 (CDA-1). Scientists have so far identified faults in two genes – CDAN1 and C15ORF41 – that can cause the disease.

“We have now carried out screening on 600 patients with unexplained anaemia, identifying six new genetic faults that cause the condition,” says Dr Babbs. “So these families now have an accurate diagnosis to help support their genetic counselling.”

“We also discovered that an eighteen-month-old boy who was thought to have CDA–1 actually had another inherited anaemia caused by a different faulty gene, which had an immediate impact on his treatment – enabling his doctor to recommend an operation to remove his spleen. As a result, he is now no longer dependent on blood transfusions, radically improving his quality of life and long-term prospects.”

The researchers also carried out a series of laboratory experiments to find out, in more detail, how the protein molecules produced from the CDAN1 and C15ORF41 genes work. They found that these two protein molecules work together and move to structures within cells that make other proteins – shedding light on how things can go wrong in red blood cells if either of these genes contains specific faults found in patients with CDA–1 anaemia.

“For some families, the impact of this project will be immediate and life-long as a precise genetic diagnosis enables accurate genetic counselling and personalised treatment,” says Dr Babbs. “And, even for those whose treatment may not change, just having a genetic diagnosis is a milestone psychologically.”

In the longer term, the researchers are working to make sure that these findings will ultimately lead to new treatments for children with CDA-1 and other forms of inherited anaemia.

This research was completed on

Anaemia is a global public health problem that can have a major effect on children’s health.1 Usually, the cause of a child’s illness can be identified using simple diagnostic tests. However, sometimes the cause remains a mystery. This makes it difficult to identify the best treatment and predict how a child’s life will be affected. Dr Chris Babbs, of the University of Oxford, is searching for genes for inherited anaemia. His work could give more children an exact diagnosis. Over the longer term, it might also lead to new treatments for what can be a serious and lifelong condition.

How are children’s lives affected now?

“Children with anaemia feel tired and short of breath, which affects their concentration and ability to join in with sports,” says Dr Babbs. “At its most severe, anaemia can be life threatening.”

Many different things can cause anaemia, including a poor diet and infectious disease. Anaemia can also be inherited.

It is important to find out the cause of a child’s anaemia so they can be given the correct treatment.

“We estimate that each year in the UK 40 to 50 children find the cause of their anaemia remains unexplained even though they’ve undergone numerous, sometimes unpleasant, tests at specialist clinics that can be far from home,” says Dr Babbs.

“Without an exact diagnosis, it can be difficult to decide how best to treat children and predict how their illness might progress,” continues Dr Babbs. “Uncertainty about their child’s future health, and a lack of information about the likelihood of recurrence in any subsequent pregnancies, are also great sources of anxiety for parents.”

How could this research help?

“We aim to improve the diagnosis and treatment of anaemia,” says Dr Babbs. “We are focusing on a rare, inherited form of anaemia called congenital dyserythropoietic anaemia type 1 or CDA-1. We already know that changes in two genes cause some cases of CDA-1. We are looking for more of the genetic changes that cause CDA-1. We are also investigating how these changes affect red blood cells, which could help in the development of new treatments.”

The team’s work could bring about almost immediate benefits by improving genetic tests for anaemia and giving more children an explanation for their problems. “Having an accurate diagnosis is an enormous help,” says Dr Babbs. “It can bring relief to families to find out why they’ve been affected. It can give everyone a clearer idea about how a child’s health might be affected in the future and help guide treatment. It can also enable people to access genetic counselling, so they can find out what their chances are of having another baby with anaemia.”


1. World Health Organization. Worldwide prevalence of anaemia 1993–2005 WHO Global Database on Anaemia. 2008. http://www.who.int/nutrition/publications/micronutrients/anaemia_iron_de... Website accessed 19 September 2014.


You can read more about this form of anaemia in a Weatherall Institute of Molecular Medicine, University of Oxford blog.




Project Leader Dr Chris Babbs Bsc (Hons) DPhil
Project Team Dr Veronica Buckle BSc DPhilProfessor Doug R Higgs FRSDr Noemi B Roy BSc DPhil MBChB FRCPath MRCP
Project Location Weatherall Institute of Molecular Medicine, University of Oxford
Project duration 3 years
Date awarded 25 July 2014
Project start date 12 January 2015
Project end date 11 January 2018
Grant amount £172,229
Grant code GN2300


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