A new blood test is being developed by researchers in Oxford and Cambridge that could help identify babies at risk of a severe form of sickle cell disease. For the first time, it offers the chance to begin immediate and intensive treatment where necessary at an early stage.
Sickle cell disease is the UK’s most common severe genetic disorder, affecting over 12 000 people. While symptoms usually start early – in babies between six to nine months old – the most reliable diagnostic tests currently available are complicated and expensive. Crucially, none of the existing tests show how severe the baby’s illness is likely to be.
Dr John Gibson, the project leader from the University of Cambridge, commented, “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.”
The aim of this project is to perfect the diagnostic test, so it can be used routinely at the bedside.”
The test works by detecting abnormal red blood cells carried by babies with sickle cell disease. “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,” said Dr Gibson.
Children with sickle cell disease have an increased chance of infections and anaemia, which can be life threatening. They are also at risk of complications including organ failure, strokes and leg ulcers, and have a shorter life expectancy.
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.’
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.”
