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Managing sickle cell disease

Managing sickle cell disease

Key learning points:

– Sickle cell disease is the most common clinically significant genetic disorder affecting newborn children in England

– It is characterised by painful crises and increased risk of infection, chronic organ damage and early death

– Patients with sickle cell disease require multidisciplinary approach to their management and primary care is pivotal in overseeing delivery of care

Sickle cell disease (SCD) is a group of inherited disorders of the blood that causes a chronic multisystem disease, leading to organ damage and premature death.1 Its name is derived from the unusual ‘sickle’ shaped red blood cells that forms the hallmark of this syndrome. SCD commonly occurs in people of African, Middle Eastern and South Asian origin where the mutation has been preserved through evolution due to the anti-malarial properties of the abnormal haemoglobin molecule.2 Population migration over recent history has resulted in increased prevalence of SCD in Europe and America.3 SCD is now the most common clinically significant genetic disorder affecting newborn children in England with approximately 300 children being born annually with this condition.4


SCD is caused by a mutation in the gene encoding the beta globin protein of the haemoglobin molecule, which results in the ability of the sickle red blood cells to change from the usual doughnut shape to the pathological ‘sickle’ shape. The pathological shape change worsens when the subject is dehydrated or deprived of oxygen or has an infection. This leads to the blockage of small blood vessels by the ‘sickled’ red blood cells that in turn causes a lack of oxygen supply to tissues, resulting in tissue necrosis and pain. The sickled red blood cells often break down within the blood stream, spilling their internal contents, including a toxic product called heme, which damages the lining of the blood vessels. This is often coupled with activated platelets and increased white cell count, which leads to further blockage and necrosis. This constant sickling and tissue necrosis leads to damage of virtually every organ in the body.5


It is estimated that around 12,000 to 15,000 individuals live in the UK with a significant haemoglobin disorder such as SCD.6 Although the vast majority of affected individuals are from London and Greater London areas, screening data indicates that affected babies are born in virtually every health economy in the UK,4 therefore it is important that health professionals from all over the country are familiar with the management of this condition. A confidential enquiry of deaths in the UK of SCD in 2008 revealed significant gaps in service provision and equity of access to care.7

Clinical Features

SCD is a multisystem disorder characterised by anaemia, episodic pain (also known as painful crises), increased susceptibility to infection and increased mortality. Table 1 highlights the most common acute and chronic complications of SCD and outlines how to manage them. Painful crises are a common cause of hospital admission and patients often require treatment with opioids for pain relief. SCD leads to dysfunction of the spleen from a very young age,8 which leads to an increased risk of infection with encapsulated bacteria such as pneumococcus and meningococcus.

Living with SCD

Childhood death from infection in SCD has been virtually eliminated in Western Europe and North America where newborn screening for SCD allows for all affected babies to receive penicillin prophylaxis by three months of age, along with targeted vaccination against encapsulated bacteria and close clinical follow up.9 Table 2 highlights the current vaccination recommendation for individuals with SCD. Reduction in childhood mortality has resulted in the majority of patients surviving through to adulthood, only to face the burden of chronic organ damage and debility at a huge personal and social cost. Frequent hospital admissions lead to school absences, which, when compounded by loss of cognitive function due to chronic brain damage leads to educational underachievement and poor job prospects. The unpredictable and episodic nature of the crises, and need for frequent hospital or GP visits makes it difficult for many affected individuals to remain in full-time employment. A lack of healthcare provider understanding of the nature of painful crises may result in stigmatisation and allegations of opioid dependence. Poverty, immigration issues, lack of access to benefits advice, language difficulties, lack of education and poor cognition often dominate and lead to difficulty in engagement with healthcare provision. A recent study has shown a 50% increase in short-term acute hospital admissions with SCD in England in the past decade,10 highlighting the importance of implementing strategies to improve self-management through support, education and engagement with health promotion activities.

Another important area of concern is when patients transfer from paediatric to adult services. Young adults who fall through the two services face danger of significant morbidity and death.11 Greater insight into the experiences of SCD patients, in terms of both accessing services and the standard of care received can facilitate improvements into each of these areas. The recent development of a patient reported experience measure (PREM) specifically designed to capture the care experiences of people with SCD is working to shed light on this little known condition and drive key service improvements. The tool’s development has been led by Picker Institute Europe, a charity committed to using people’s experiences to improve the quality of health and social care provided. Commissioned by the National Institute for Health Research Collaboration for Leadership in Applied Health Research and Care Northwest London, at Imperial College London, the work has been launched in partnership with the Sickle Cell Society. Questions for patients, parents and carers were refined and tested in London, with a final version now available for use across England, with the initial survey set to close in autumn 2015, for the first round of analysis.


The mainstay of management can be outlined under the following headlines:

1.Newborn screening and early entry to healthcare, penicillin prophylaxis and vaccination against encapsulated bacteria and influenza.12,13

2.Long-term programmes of parental education, support and clinical follow up.14

3.Prompt management of acute painful episodes and infections.

4.Institution of specific interventions such as hydroxycarbamide,15 transfusion therapy16 or bone marrow transplantation.17

5.Institution of transcranial doppler monitoring for assessment of stroke risk and commencement of chronic transfusions in children at a high risk of strokes.18

6.Robust transition arrangement from paediatric to adult services.11

7.Chronic monitoring and management of organ damage in the adult patient – renal, liver, brain, lungs, leg ulcers, priapism, retinopathy, arthropathy and pregnancy.19

Primary care management of sickle cell disease

Patients with SCD and their carers in the UK often prefer to use hospital emergency services for acute management of complications rather than visiting their primary care provider. Focus group work has revealed patient anxiety, with regard to a lack of access to their GP, the GP’s knowledge in management of their condition, and continuity of care following discharge from hospital.20 Nonetheless, there is little doubt that well-engaged primary care providers could assist with both disease related and non sickle cell related issues.

The primary care team can assist with the following:

1. Promotion and provision of vaccination, including those specific to SCD.

2. Early provision of penicillin prophylaxis and facilitate easy access to prescriptions.

3. Health visitor support to promote breast feeding and encourage compliance with penicillin prophylaxis in the newborn.

4. Coordinate complex health needs of patients, including facilitation of specialist referrals.

5. Health promotion, smoking cessation and healthy living advice including sexual health and contraception.

6. Travel advice including malaria prophylaxis.

7. Timely clinical assessment of acute exacerbations such as painful crises.

8. School nurse support with vaccination, health care plans, administration of simple analgesia, increasing awareness of disease among teachers and students, reducing stigma and contraception advice.


SCD is a chronic multisystem disorder and is a common inherited disorder in England. Significant inequity in care provision is still in existence in the country, which results in worsening health outcomes.

As patients survive through to adulthood their disease burden increases and patients require increasing healthcare support. Self-management, crises prevention, healthy living and good medication compliance help with improved outcomes.


1. Rees DC, Williams TN, Gladwin MT. Sickle-cell disease. Lancet 2011;376(9757):2018-31. DOI: 10.1016/S0140-6736(10)61029-X. (accessed 3 September 2015).

2. Piel FB, Patil AP, Howes RE, Nyangiri OA, Gething PW, Williams TN, et al. Global distribution of the sickle cell gene and geographical confirmation of the malaria hypothesis. Nature communications 2010;1:104

3. Piel FB, Tatem AJ, Huang Z, Gupta S, Williams TN, Weatherall DJ. Global migration and the changing distribution of sickle haemoglobin: a quantitative study of temporal trends between 1960 and 2000. The Lancet Global Health 2014;2(2):e80-e9.

4. Programme NSCaTS. Data Report 2013/14-Trends and performance analysis. London: Public Health England; 2015.

5. Chakravorty S, Williams TN. Sickle cell disease: a neglected chronic disease of increasing global health importance. Archives of disease in childhood 2015;100(1):48-53

6. Foster M. National Haemoglobinopathy Registry Report 2013/14. United Kingdom: National Haemoglobinopathy Register.

7. Lucas SB, Mason D.G. A Sickle Crisis? A report of the National Confidential Enquiry into Patient Outcome and Death, 2008. (accessed 3 September 2015).

8. Wang WC, Ware RE, Miller ST, Iyer RV, Casella JF, Minniti CP, et al. Hydroxycarbamide in very young children with sickle-cell anaemia: a multicentre, randomised, controlled trial (BABY HUG). Lancet 2011;377(9778):1663-72.

9. Telfer P, Coen P, Chakravorty S, Wilkey O, Evans J, Newell H, et al. Clinical outcomes in children with sickle cell disease living in England: a neonatal cohort in East London. Haematologica 2007;92(7):905-12.

10. Aljuburi G, Laverty AA, Green SA, Phekoo KJ, Banarsee R, Okoye NV, et al. Trends in hospital admissions for sickle cell disease in England, 2001/02-2009/10. Journal of public health 2012;34(4):570-6.

11. DeBaun MR, Telfair J. Transition and sickle cell disease. Pediatrics 2012;130(5):926-35. DOI: 10.1542/peds.2011-3049 (accessed 3 September 2015).

12. Vichinsky E, Hurst D, Earles A, Kleman K, Lubin B. Newborn screening for sickle cell disease: effect on mortality. Pediatrics 1988;81(6):749-55.

13. Gaston MH, Verter JI, Woods G, Pegelow C, Kelleher J, Presbury G, et al. Prophylaxis with oral penicillin in children with sickle cell anemia. A randomized trial. The New England Journal of Medicine 1986;314(25):1593-9

14. Okpala I, Thomas V, Westerdale N, Jegede T, Raj K, Daley S, et al. The comprehensiveness care of sickle cell disease. European Journal of Haematology 2002;68(3):157-62.

15. Charache S, Terrin ML, Moore RD, Dover GJ, Barton FB, Eckert SV,
et al. Effect of hydroxyurea on the frequency of painful crises in sickle cell anemia. Investigators of the Multicenter Study of Hydroxyurea in Sickle Cell Anemia. The New England Journal of Medicine 1995;332(20):1317-22.

16. Miller ST, Wright E, Abboud M, Berman B, Files B, Scher CD, et al. Impact of chronic transfusion on incidence of pain and acute chest syndrome during the Stroke Prevention Trial (STOP) in sickle-cell anemia. The Journal of Pediatrics 2001;139(6):785-9.

17. Locatelli F, Kabbara N, Ruggeri A, Ghavamzadeh A, Roberts I, Li CK, et al. Outcome of patients with hemoglobinopathies given either cord blood or bone marrow transplantation from an HLA-identical sibling. Blood 2013;122(6):1072-8. DOI: 10.1182/blood-2013-03-489112 (accessed 3 September 2015).

18. Adams RJ, McKie VC, Hsu L, Files B, Vichinsky E, Pegelow C, et al. Prevention of a first stroke by transfusions in children with sickle cell anemia and abnormal results on transcranial Doppler ultrasonography. The New England Journal of Medicine 1998;339(1):5-11.

19. Yawn BP, Buchanan GR, Afenyi-Annan AN, Ballas SK, Hassell KL, James AH, et al. Management of sickle cell disease: summary of the 2014 evidence-based report by expert panel members. Jama 2014;312(10):1033-48.

20. Aljuburi G, Phekoo KJ, Okoye NO, Anie K, Green SA, Nkohkwo A, et al. Patients' views on improving sickle cell disease management in primary care: focus group discussion. Journal of the Royal Society of Medicine short reports 2012;3(12):84. DOI: 10.1258/shorts.2012.011153 (accessed 3 September 2015).

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