cell/haemoglobin C disease (Gardner et al., 2016). Certainly life expectancy is improving but older patients with SCD have an increasing burden of chronic complications and often have complex health needs. A National Confidential Enquiry into Patient Outcome and Death (National Confidential Enquiry into Patient Outcome and Death (NCEPOD), 2008) study in England reported that the most common causes of death in adults with SCD were cerebrovascular accidents, multi-organ failure and acute chest syndrome. The enquiry also called for better evaluation and improved reporting of cause of death in SCD patients. Diagnosis SCD may be suspected clinically if a patient from an at-risk ethnic group presents with clinical features suggestive of a painful crisis or an acute complication of SCD. Ethnicity, however, is not always a marker of who might be at risk of SCD. The large majority of new cases are now diagnosed as a result of the neonatal bloodspot screening programme in England. Chapter 1: Overview Standards for Clinical Care of Adults with Sickle Cell Disease in the UK, 2nd Edition 32 Laboratory tests used to diagnose SCD: a) Indirect methods which detect haemoglobin S on the basis of its physical/chemical properties. · Sickle solubility test (e.g. Sickledex). This test will identify the presence of haemoglobin S if more than 15% of total haemoglobin. It does not differentiate between sickle cell trait, sickle cell anaemia and compound heterozygous states and cannot be used for newborn screening or diagnosis. · Haemoglobin electrophoresis: cellulose acetate membrane at alkaline pH, acid agarose gel, isoelectric focusing (IEF), capillary electrophoresis. · High performance liquid chromatography (HPLC). b) Methods that directly identify haemoglobin S or the underlying mutation: · Tandem mass spectroscopy · Direct detection of the βS mutation. Various methods of DNA analysis may be used. The NHS Screening Programme for Sickle Cell and Thalassaemia publishes antenatal and neonatal laboratory handbooks (Public Health England, 2017b) which provide detailed guidance on laboratory standards, testing algorithms, standardised reporting formats and indications for referral for DNA analysis. All laboratories testing for SCD should adhere to these standards. Screening for sickle cell National screening programme The plan to establish a linked antenatal and neonatal screening programme for Sickle cell and thalassaemia in the NHS was agreed in 2001 and implemented over the next ten years. It has the following aims: · To support people to make informed choices before conception and during pregnancy · To improve infant health through prompt identification of affected babies · To provide high quality and accessible care throughout the UK · To promote greater understanding and awareness of the disorders and the value of screening Neonatal screening Screening of newborns for SCD is part of the National Newborn Screening Programme in the UK. Testing is done on all babies using a heel prick bloodspot sample taken at 5-7 days of age. The Chapter 1: Overview Standards for Clinical Care of Adults with Sickle Cell Disease in the UK, 2nd Edition 33 aim is to identify babies prior to their first clinical presentation. There is compelling evidence from programmes in Jamaica, UK and the United States that early diagnosis can improve clinical outcomes and reduce mortality during childhood. Key interventions include parental education, early initiation of oral penicillin, administration of pneumococcal vaccination and transcranial Doppler risk screening. Antenatal screening Antenatal haemoglobinopathy screening is offered to all women in the UK as part of routine antenatal care. In England, testing for sickle cell carrier status is universal in high prevalence areas (more than 1.5 babies per 10,000 births with SCD) and targeted in low prevalence areas, with risk assessed by determining the family origins of baby’s mother and father using a validated questionnaire (Public Health England, 2012). Carrier mothers should be offered counselling and fathers invited for testing. When both parents are carriers, the pregnancy is regarded as ‘at risk’ (1 in 4 chance of an affected child), and prenatal diagnosis (PND) is offered. Couples found to have an affected foetus require further counselling and are given the option to terminate the affected pregnancy. Emergency and opportunistic screening Preoperative screening may need to be carried out in an emergency, sometimes outside normal laboratory hours. In these cases the first test may be the sickle solubility test. However, this will only detect the presence of haemoglobin S and further investigation is needed to distinguish sickle trait from significant SCD. HPLC will give a quantitative level of haemoglobin S and haemoglobin F, as well as demonstrating the presence of haemoglobin A to clarify the diagnosis. Opportunistic screening requests may come from GP practices, dentists and Family Planning Clinics, and siblings of babies identified through the newborn screening programme should be tested. Laboratories and clinical services need to ensure that a procedure is in place to allow affected individuals to be counselled about their condition and to receive prompt appropriate medical care. Laboratories should have a failsafe mechanism in place when issuing results, to ensure all