appropriate parties are informed of the result. Predictive factors and variability in phenotype SCD, although the result of a single genetic defect, is variable in clinical severity. Sickle cell anaemia and haemoglobin S/β0 thalassaemia are regarded as most severe, but there is remarkable variation in clinical phenotype between individuals with these genotypes. We are yet to fully understand the reasons for this. Further, life threatening events can arise in ‘less severe’ SCD. Genetic and environmental elements have a significant influence on disease severity. Chapter 1: Overview Standards for Clinical Care of Adults with Sickle Cell Disease in the UK, 2nd Edition 34 The best characterised genetic factors are: · Genetic determinants of increased haemoglobin F production · Coexisting alpha thalassaemia · Beta globin haplotype · Linked genetic polymorphisms associated with specific acute and chronic complications · Environmental factors include infection, climate, nutrition, psychosocial factors, socioeconomic status and access to medical care Rationale for therapies The goals of management are to improve survival, reduce acute and chronic complications, and improve quality of life. Patients require ongoing continuity of care, starting in early infancy and continuing throughout the life course. This document will describe the appropriate levels of care required to achieve these goals. Standards for Clinical Care of Adults with Sickle Cell Disease in the UK, 2nd Edition 35 Chapter 2: Organisation of care "We require respect, care, dignity and candour. We require mandated standards that can be challenged by patients when failures occur. Commissioning that reflects need that has parity with other specialised illnesses given SCD is the world’s most common genetic condition." General principles “We need more nurses, more community services, more adult care support services and a dedicated team to support us with the phases of change we experience as sickle patients.” Introduction Sickle cell disease (SCD) is a lifelong chronic disease causing complex multi-system medical problems, which can be associated with variable clinical presentations and significant social and psychological challenges. This leads to variable care pathways and the need to work with large numbers of different practitioners. Care therefore needs to be provided by a multi-disciplinary team, working across sector and agency boundaries. This will include health and social care provision, community nursing care, primary health care and secondary/tertiary care in specialist centres as well as third sector organisations. Services need to take account of the chronic nature of the condition and its impact on further education, work and family life, as well as the variable and unpredictable need for acute hospital care. Service users with a clear understanding of their condition can manage their disease optimally. An emphasis on patient education and independent self-care is fundamental to successful outcomes, particularly given the uncertainties associated with the condition. Partnership between ‘expert patients’ and professionals, which enhances care and patient choice, is central to management decisions. Health professionals need to be aware of the challenges of navigating these complex care pathways and of the importance of consistent and clear communication. Standards · Adults with SCD should be offered care as close to home where possible, but should also have access to highly specialist multidisciplinary care including specialist nursing support. · All patients should have a named key contact and a number to phone if needing advice. · All hospitals with emergency departments should have protocols to guide management of uncomplicated acute presentations of SCD. Chapter 2: Organisation of care Standards for Clinical Care of Adults with Sickle Cell Disease in the UK, 2nd Edition 36 · All local hospitals should be linked with a named specialist centre with agreed pathways and protocols for advice and referral for acute and chronic complications including when to seek specialist advice. · All adults with SCD should be offered comprehensive review from a specialist centre at least annually. All patients should be offered regular outpatient review to ensure screening for chronic disease complication and early instigation of treatment according to local protocols and national guidance. · All patients with evidence of chronic organ dysfunction should have access to review in multidisciplinary or specialist clinics. · All patients should have access to specialist psychology support. Background evidence The appropriate model offers care for the patient as close to home as possible whilst offering access to highly specialist health care when needed for expert assessment or management. These requirements are thought to be best addressed by care networks but different models of care have been developed, based on local availability and patient preference, with little evidence about which is best. Much care can be offered in the home or community setting, with clinical support from the local hospital, which will provide routine health checks and acute and on-going care for less complex complications. Primary and community services are commissioned by Clinical Commissioning Groups (CCGs) and there should be dialogue and seamless service