Screening for haemoglobinopathies

Summary 

The NHS Plan in July 2000 outlined a commitment to the implementation of a linked newborn and antenatal screening programme for sickle cell and thalassaemia for England. Implementation of the newborn screening programme for sickle cell disorders is now underway and already half of all babies born in England are being offered screening as part of the existing bloodspot screening programme for phenylketonuria and congenital hypothyroidism. The programme will cover all babies by March 2005. Antenatal screening will be offered, either on a universal basis in high prevalence areas by March 2005, or as selective screening in low prevalence areas by March 2006. The implementation of both the antenatal and neonatal screening programmes has focused on training midwifery and primary care staff to prepare them for this development. As neonatal screening will not be effective without careful follow-up of affected infants, the programme has also highlighted the need for standards of clinical care and training of paediatricians, particularly in low prevalence areas. Sickle cell disease is a variable and unpredictable condition and paediatricians will need to prevent complications as well as recognize and treat emergencies which can be life threatening. Clinical networks of local and more specialist centres will be needed to support the management of these children and ensure complete follow-up of infants diagnosed on the screening programme.

Keywords: Newborn screening, Antenatal screening, Haemoglobinopathies, Sickle cell disease