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Researchers developing blood test to improve diagnosis of sickle cell disease in babies
06 September 2011
Action Medical Research
A new blood test is being developed by researchers in Cambridge and Oxford, which, for the first time, could help identify babies at risk of a severe form of sickle cell disease, allowing immediate and more intensive treatment to be given, thanks to a grant from children’s charity Action Medical Research.
Over 12,000 people in the UK have sickle cell disease – the UK’s most common severe genetic disorder. An estimated 20 million people are affected worldwide.1-3 Symptoms usually start early – in babies who are just six to nine months old.
Children with sickle cell disease face a lifetime of ill health. They have attacks of intense pain – called crises – which can last several days. They are prone to infections and anaemia, which can be life-threatening. They are at risk of a variety of complications, including organ failure, strokes and leg ulcers, and they have a shortened life expectancy.
Project leader, Dr John Gibson from the University of Cambridge, said: “Currently, the most reliable diagnostic tests for sickle cell disease are complicated, requiring skilled technicians and sophisticated, expensive equipment. The tests are time consuming and are often not useful in an emergency situation.
“What’s more, none of the existing tests can predict how severe a baby’s illness is likely to be. Babies who are at risk of the most severe symptoms, who might benefit greatly from early and intensive treatment, cannot be easily identified before they become poorly.
“Babies with the disease have abnormal red blood cells. The test works by detecting these cells. It involves mixing a blood sample with a special sugar solution in low oxygen. Red blood cells from a baby who has sickle cell disease burst in the liquid, which becomes pink. Cells from a healthy baby do not burst, and the liquid stays clear. The aim of this project is to perfect the diagnostic test, so it can be used routinely at the bedside,” he said.
The project team includes Dr John Gibson, Professor Clive Ellory, from the University of Oxford and Dr David Rees of King’s College Hospital, London. Around 120 children and adults with sickle cell disease who attend clinics at Kings are donating blood samples for use in this research.
Dr Alexandra Dedman, Senior Research Evaluation Manager, at Action Medical Research said: “The researchers are hoping the new test could be simpler, cheaper and easy to distribute and more children in developing countries might therefore have access to testing - in some parts of Africa the disease is particularly common, with up to one in 60 babies being affected.2
“The new test could give faster results, making it suitable for use in emergencies. If children need emergency surgery, for example, it is important to know whether they have sickle cell disease,” she added.
1. NHS Choices. Sickle cell anaemia.http://www.nhs.uk/conditions/sickle-cell-anaemia/Pages/Introduction.aspx Website accessed 11 January 2011.
2. Howard J, Davies SC. Sickle cell disease in North Europe. Scand J Clin Lab Invest 2007; 67:27-38.
3. Aliyu ZY, Kato GJ, Taylor J, Babadoko A, Mamman AI, Gordeuk VR, Gladwin MT. Sickle cell disease and pulmonary hypertension in Africa: A global perspective and review of epidemiology, pathophysiology, and management. Am J Hematol 2008; 83:63-70.