Screening for the genetic disorder sickle cell anaemia

Title: Screening for the genetic disorder sickle cell anaemia.

Description:

The NHS Sickle Cell and Thalassaemia Steering Group are holding an event in Westminster to celebrate the fact that screening for the genetic disorder sickle cell anaemia is now offered to all newborn babies in England, and to launch new standards and guidelines for the clinical care of sickle cell diseases in childhood.

Content:

The NHS Sickle Cell and Thalassaemia Steering Group are holding an event in Westminster to celebrate the fact that screening for the genetic disorder sickle cell anaemia is now offered to all newborn babies in England, and to launch new standards and guidelines for the clinical care of sickle cell diseases in childhood. These have been developed by the UK Forum for Haemoglobin Disorders in conjunction with the NHS steering group, the Sickle Cell Society, the British Society of Haematology, and the Royal College of Paediatrics and Child Health; they provide the first formal clinical quality standards for those receiving treatment for sickle cell disease and “signify a first step in a process designed to integrate screening and care of those affected by sickle cell disorders”. Sickle-cell disease one of a group of haemoglobinopathies, inherited blood disorders that primarily affect people of Afro-Caribbean origin, but are also present in other populations. Briefly, the guidelines set out measures for the implementation of antenatal and newborn screening, and for the linking of information between the two stages of screening. The programme standards cover issues not only of practical implementation, but also of patient satisfaction. It is intended that the new standards, combined with those for another important genetic haemoglobinopathy, thalassaemia, should provide a foundation for the development of nationwide quality care (see stakeholder briefing); they are supported by the Professional Education for Genetic Assessment and Screening (PEGASUS) scheme, which facilitates training of health professionals involved in antenatal and newborn screening. Screening for sickle-cell disease, which is performed as part of the standard ‘heel-prick’ neonatal screening procedure, is expected to identify more than 300 affected babies each year in England. Early identification of the disorder minimises complications and mortality in such children, for example by allowing prompt intervention with penicillin to prevent overwhelming infections. Screening programmes are already in place in area of England with the highest prevalence, but it is intended that national coverage will be complete by the middle of 2007 (see BBC news. Early antenatal testing to identify mothers who are carriers of the disease should also be offered; couples found to be at high risk of having an affected child are offered counselling and prenatal diagnosis.

Source:

http://phgu.org.uk/ecard?link_ID=2739
Dr Philippa Brice
20 October 2006

Disclaimer:

Any views or opinions expressed are solely those of the author and do not represent those of The Federation of Antenatal Educators (FEDANT) unless specifically stated.