Authors' objectives:

The objectives of this review were: - to review the literature on haemoglobinopathy screening - to review the literature on gene prevalence in the various British populations for the sickle and beta-thalassaemia genes - to apply these to Census data in order to develop evidence-based estimates for the prevalence of sickle cell disease (SCD) and beta-thalassaemia in England - to evaluate local data from North West London (Brent) to illuminate debate regarding the outcome of haemoglobinopathy screening programmes and their costs.

Authors' recommendations: The evidence supports previous national guidance (Standing Medical Advisory Committee) that commissioners should develop appropriate population-based haemoglobinopathy screening programmes. Because this study makes no comparison with other programmes, the generalisability of the cost models on which the conclusions are based could usefully be considered in the planning process. Other programmes may have very different structures and therefore costs. There is currently little cooperation between health authorities and across regions. The evidence suggests that the creation of partnerships when building programmes would ensure efficiencies of scale and expert input, while maintaining closeness to the clinical services. Commissioners are not currently required to have a quality framework for any implementation plan for their screening programmes. Such a plan would include the linkage to and provision of both counselling and specialist care. This review suggests a need for all haemoglobinopathy screening programmes to have defined paths of responsibility for every aspect of the work, with agreed service standards for the purpose of audit. Audit depends on outcome measures (including timetables) being defined for the respective screening processes. The indications are that there is a need to address the current lack of systematic data collection in this area, particularly: - ethnic monitoring (for instance, there is no standard instrument currently used in laboratories to record ethnic group or ethnic origin) - ethnic-specific data on screening uptake - patient registries to monitor long-term outcomes and mortality.

Authors' methods: Systematic review

Project Status: Completed

URL for project: http://www.hta.ac.uk/916

Year Published: 2000

English language abstract: An English language summary is available

Publication Type: Not Assigned

Country: England, United Kingdom

Organisation Name: NIHR Health Technology Assessment programme

Contact Address: NIHR Journals Library, National Institute for Health and Care Research, Evaluation, Trials and Studies Coordinating Centre, Alpha House, University of Southampton Science Park, Southampton SO16 7NS, UK

Contact Name: journals.library@nihr.ac.uk

Contact Email: journals.library@nihr.ac.uk

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