Screening for sickle cell disease and thalassaemia: a systematic review with supplementary research.

Abstract

Screening for sickle cell disease and thalassaemia: a systematic review with supplementary research. Health Technol Assess 2000;4(3). Health Technology Assessment is indexed in Index Medicus/MEDLINE and Excerpta Medica/ EMBASE. Copies of the Executive Summaries are available from the NCCHTA web site (see overleaf). NHS R&D HTA Programme T he overall aim of the NHS R&D Health Technology Assessment (HTA) programme is to ensure that high-quality research information on the costs, effectiveness and broader impact of health technologies is produced in the most efficient way for those who use, manage and work in the NHS. Research is undertaken in those areas where the evidence will lead to the greatest benefits to patients, either through improved patient outcomes or the most efficient use of NHS resources. The Standing Group on Health Technology advises on national priorities for health technology assessment. Six advisory panels assist the Standing Group in identifying and prioritising projects. These priorities are then considered by the HTA Commissioning Board supported by the National Coordinating Centre for HTA (NCCHTA). This report is one of a series covering acute care, diagnostics and imaging, methodology, pharmaceuticals, population screening, and primary and community care. It was identified as a priority by the Population Screening Panel and funded as project number 93/33/03. The views expressed in this publication are those of the authors and not necessarily those of the Standing Group, the Commissioning Board, the Panel members or the Department of Health. The editors wish to emphasise that funding and publication of this research by the NHS should not be taken as implicit support for the recommendations for policy contained herein. In particular, policy options in the area of screening will be considered by the National Screening Committee. This Committee, chaired by the Chief Medical Officer, will take into account the views expressed here, further available evidence and other relevant considerations. Reviews in Health Technology Assessment are termed 'systematic' when the account of the search, appraisal and synthesis methods (to minimise biases and random errors) would, in theory, permit the replication of the review by others. Criteria for inclusion in the HTA monograph series Reports are published in the HTA monograph series if (1) they have resulted from work either prioritised by the Standing Group on Health Technology, or otherwise commissioned for the HTA Programme, and (2) they are of a sufficiently high scientific quality as assessed by the referees and editors.

Adjusting for treatment refusal in rationing decisions

“…Thus, the QALY gain would be underestimated by a half if just 30% of a clinical group lose expected QALYs and decline treatment. Situations where more than 30% of an eligible patient population are prospective losers and will decline treatment include prenatal diagnosis for sickle cell disease,4 hormone replacement therapy for prevention of osteoporosis and colon cancer,5 bilateral prophylactic mastectomy for autosomal dominant breast cancer,6 and screening for prostate cancer 7 8…”

Advances in analytical mass spectrometry to improve screening for inherited metabolic diseases

“…The risks associated with sickle cell disease, thalassaemias and other untreated haemoglobinopathies have led to neonatal screening programmes in many regions worldwide [1,9]. Clinical haemoglobin analysis has traditionally been based on combining various techniques such as electrophoresis, isoelectric focusing, and ion-exchange HPLC.…”

Sudden Death During Prolonged Religious Fasting

“…S ickle cell disease (SCD) is a very common disorder in the UK, 1 and heterozygous carriers of the sickle cell gene (HBA/S) are referred to as having sickle cell trait (SCT). The heterozygous rate in parts of the UK has been estimated as 3.2%.…”