Screening for sickle cell disease and thalassaemia saving lives
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《英国医生杂志》
The NHS programme for screening newborn babies for sickle cell disease and thalassaemia now covers more than half of England and is on target to reach all newborn babies by March 2005.
A mother watches as a sample of blood is taken from her baby's heel
Credit: RUTH JENKINSON/MOTHER AND BABY
The programme, which was included in the NHS Plan in 2000 after years of lobbying from doctors and patient groups, was launched in September 2003. Since then more than 100000 babies have been screened for the two blood disorders and 124 have been diagnosed, giving a detection rate of 1.2 per 1000 babies screened.
Antenatal screening for these diseases in pregnant women is also being rolled out across the country and is due to reach full coverage by March 2006. However, many trusts already offer antenatal screening, and 95% of carriers of the diseases are currently being detected, said Dr Allison Streetly, the programme's director and a consultant in public health in southeast London.
The prevalence of sickle cell disease in England has increased by 60% in the past 10 years. An estimated 125000 now have the disorder, and more than 700 people have thalassaemia.
Early detection of the disorders and prompt delivery of penicillin to prevent pneumococcal infections has improved the survival of newborn babies with sickle cell disease, said Dr Streetly. The antenatal arm of the programme is also serving to alert carriers to the disease and offers couples at risk of passing on the diseases the option of fetal screening.
The detection rate of the disorders is similar to that predicted but higher than what will become the national average because of the high prevalence of the disorders in the areas primarily targeted by the programme, which include London and the West Midlands, said Dr Streetly.
"Sickle cell disease and thalassaemia have a similar prevalence among newborn babies as cystic fibrosis, but there is far less awareness of these disorders among both doctors and the general public," she said. "One of the aims of the programme is to raise awareness of these disorders and improve understanding of how it is carried and passed on."(Zosia Kmietowicz)
A mother watches as a sample of blood is taken from her baby's heel
Credit: RUTH JENKINSON/MOTHER AND BABY
The programme, which was included in the NHS Plan in 2000 after years of lobbying from doctors and patient groups, was launched in September 2003. Since then more than 100000 babies have been screened for the two blood disorders and 124 have been diagnosed, giving a detection rate of 1.2 per 1000 babies screened.
Antenatal screening for these diseases in pregnant women is also being rolled out across the country and is due to reach full coverage by March 2006. However, many trusts already offer antenatal screening, and 95% of carriers of the diseases are currently being detected, said Dr Allison Streetly, the programme's director and a consultant in public health in southeast London.
The prevalence of sickle cell disease in England has increased by 60% in the past 10 years. An estimated 125000 now have the disorder, and more than 700 people have thalassaemia.
Early detection of the disorders and prompt delivery of penicillin to prevent pneumococcal infections has improved the survival of newborn babies with sickle cell disease, said Dr Streetly. The antenatal arm of the programme is also serving to alert carriers to the disease and offers couples at risk of passing on the diseases the option of fetal screening.
The detection rate of the disorders is similar to that predicted but higher than what will become the national average because of the high prevalence of the disorders in the areas primarily targeted by the programme, which include London and the West Midlands, said Dr Streetly.
"Sickle cell disease and thalassaemia have a similar prevalence among newborn babies as cystic fibrosis, but there is far less awareness of these disorders among both doctors and the general public," she said. "One of the aims of the programme is to raise awareness of these disorders and improve understanding of how it is carried and passed on."(Zosia Kmietowicz)