Implementation of universal newborn bloodspot screening for sickle cell disease and other clinically significant haemoglobinopathies in England: screening results for 2005–7

• Published in: Journal of clinical pathology Vol. 62; no. 1; pp. 26 - 30
• Main Authors: Streetly, A, Latinovic, R, Hall, K, Henthorn, J
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd and Association of Clinical Pathologists 01.01.2009; BMJ Publishing Group; BMJ Publishing Group LTD
• Subjects: Anemia, Sickle Cell - diagnosis; Anemia, Sickle Cell - epidemiology; Anemias. Hemoglobinopathies; Biological and medical sciences; Blood Specimen Collection; Children & youth; Chromatography, High Pressure Liquid; Diseases of red blood cells; England - epidemiology; Genetic Carrier Screening - methods; Health services; Hematologic and hematopoietic diseases; Hemoglobinopathies - diagnosis; Hemoglobinopathies - epidemiology; Heterozygote; Humans; Infant, Newborn; Investigative techniques, diagnostic techniques (general aspects); Isoelectric Focusing; Laboratories; Medical sciences; Medical screening; Neonatal Screening - methods; Original; Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques; Program Evaluation; Quality control; Sickle cell disease; State Medicine - organization & administration; England; United Kingdom; Great Britain; Europe; United Kingdom > UK; Human; Hemoglobinopathy; Anatomic pathology; Hemolytic anemia; Sickle cell anemia; Newborn; Hemopathy; Medical screening; Implementation; Genetic disease
• ISSN: 0021-9746; 1472-4146
• DOI: 10.1136/jcp.2008.058859

Early results from the National Health Service Sickle Cell and Thalassaemia Screening programme covering the whole of England are reported following the implementation of the national newborn blood-spot screening programme. Of the 13 laboratories performing screening, 10 chose high-performance liquid chromatography as the first screen, with isoelectric focusing as the second confirmatory test. Screening results for April 2005 to March 2007 are presented and include data from all the laboratories screening newborns in England, and almost 1.2 million infants. The screen-positive results show a national birth prevalence of almost 1 in 2000. The birth prevalence in London is five times that of most of the rest of the country. Over 17 000 carriers have been identified. Approximately seven per 1000 samples are reported as post-transfusion with wide ethnic category variation. Given the prevalence of the conditions, and coverage by ethnicity, 3–4 screen-positive cases could be missed each year. National implementation of newborn screening in England has increased the number of children identified with sickle cell disease, in many areas almost doubling the workload. Underascertainment of the condition has allowed a downplaying of the scale of need. It may also have contributed to infant mortality rates in urban areas as babies died without a diagnosis or treatment. The value of a co-ordinated national approach to policy development and implementation is emphasised by the English experience. The programme provides a model for Europe as well as other countries with significant minority populations, such as Canada. Potentially it also offers important lessons for Africa where the World Health Organization is supporting the introduction of newborn screening.