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All UK newborns screened for sickle cell disease

23 October 2006
Appeared in BioNews 381

All newborn babies in the UK are now screened for sickle cell disease within two weeks of birth, the NHS Sickle Cell and Thalassaemia Steering Group told stakeholders last week. The check, carried out as part of the routine 'heel prick' test, is expected to identify more than 300 affected babies every year. Early diagnosis can help avoid the risk of severe complications in children who inherit the blood disorder. The event also saw the launch of new guidelines for the care of children affected by sickle cell disease.

Developed by the UK Forum for Haemoglobin Disorders with support from the Programme, the Sickle Cell Society, the British Society of Haematology, and the Royal College of Paediatrics and Child Health, the new guidance sets out clinical standards for those receiving treatment for sickle cell disease. It also represents the first step in a process 'designed to integrate screening and care of those affected by sickle cell disorders'.

Sickle cell disease is caused by a gene mutation that affects the oxygen-carrying protein haemoglobin, found in red blood cells. People with sickle cell disease have an altered form of haemoglobin, which tends to join together in long 'sickle-shaped' strands when it is not carrying oxygen. These sickle cells can get stuck in small blood vessels, causing pain in the chest and joints. People with sickle cell disease often become anaemic, and may also be affected by gallstones, eye problems and strokes. It has a recessive pattern of inheritance, which means that two unaffected carrier parents have a one in four chance of passing the condition on to each of their children.

In the UK, sickle cell disease is most common in people of African and Carribean descent, but it can affect anyone. According to Allison Streetly, director of the NHS Sickle Cell and Thalassaemia Steering Programme, screening is crucial to spot those at risk because 'it is no longer possible to assume who may or may not be affected'. An antenatal screening programme to identify pregnant women who are sickle cell carriers is also being rolled out across Britain. It is already offered to women who live in areas where the prevalence of the disorder is high, but it is hoped that the programme will cover the entire country by summer 2007.

Dr John Sentamu, Archbishop of York and chair of the NHS Sickle Cell and Thalassaemia Steering Group told the BBC News website that he was 'delighted' to see the investment in screening for sickle cell disease, but that investment in care was now needed. A spokeswoman for the Sickle Cell Society said that couples should also consider testing before trying for a baby.

SOURCES & REFERENCES
All babies given sickle cell test
BBC News Online |  19 October 2006
Stakeholder Launch
NHS Sickle Cell & Thalassaemia Screening Programme |  19 October 2006
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