You are here:

Anaemia – improving diagnosis and treatment for severe anaemia

Published on


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. 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 LeaderDr Chris Babbs Bsc (Hons) DPhil
Project TeamDr Veronica Buckle BSc DPhilProfessor Doug R Higgs FRSDr Noemi B Roy BSc DPhil MBChB FRCPath MRCP
Project LocationWeatherall Institute of Molecular Medicine, University of Oxford
Project duration3 years
Date awarded25 July 2014
Project start date12 January 2015
Project end date11 January 2018
Grant amount£172,229
Grant codeGN2300

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. Please see our useful links page for some links to health information, organisations we are working with and other useful organisations. We hope you will find these useful. We are not responsible for the content of any of these sites.