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Sickle Cell Disease Module

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TopicSickle Cell Disease
AuthorBeatrice Zanetti
DurationUp to 2 Hours
Facilitator LevelST4+
Learner LevelMost useful for those in experience seeing paediatric patients regularly. From FY1 + and 5+ nurses on
Equipment RequiredNone

Basics (10 minutes)

Main session (2 x 20 minutes) case discussions covering the key points and evidence

Advanced session (2 x 30 minutes) case discussions covering grey areas, diagnostic dilemmas, advanced management and escalation

Quiz questions (10 Minutes)

Infographic sharing (5 Minutes): 5 take home learning points

To prepare for this session, learners could read: 

https://www.stemlynsblog.org/nice-faces-the-sickle/

https://first10em.com/acute-chest-syndrome-sickle-cell-disease/

https://pedemmorsels.com/sickle-cell-disease-fever/

https://emergencymedicinecases.com/video/sickle-cell-disease/

For more information, this is a link http://sickleoptions.org/en_US/video-library/. It has many useful videos for patients and doctors about sickle cell disease, management and communication scenarios.

Sickle cell disease (SCD) is the most common type of haemoglobinopathy followed by thalassaemia. SCD is an inherited blood disorder in which the haemoglobin does not form correctly resulting in an abnormal shape of the erythrocyte. Being a genetic, autosomal recessive disorder, the homozygote genotypes correlate to the most severe forms of the disease while heterozygotes are carriers/asymptomatic. 

Sickle cell patients have more than 50% of haemoglobin S instead of the normal haemoglobin A (HbAA). Heterozygote patients with only one mutated gene are carriers (sickle cell trait) with HbSA while patients with homozygote mutation have sickle cell anaemia (SCA) with HbSS. 

The sickle cell mutation was generated in Africa and Asia. The sickle cell trait provides a resistance against malaria (plasmodium falciparum) giving people a better chance to survive. In sub-Saharan Africa, the prevalence of sickle cell trait ranges between 10-45%. Caribbean, African, Middle East, India and Mediterranean ethnicities are the most affected. 

Clinical presentation usually begins after the first year of life, when fetal haemoglobin (HbF) decreases in favour of HbA. Patients with SCA (HbSS) usually become symptomatic at this point. See this helpful summary article for more info.

To understand the clinical features of sickle cell disease, we need to understand the pathophysiology:

Patients have a genetic mutation resulting in haemoglobin S. The red blood cell shape changes when deoxygenation occurs: HbS polymerizes and stretches the normal flexible biconcave shape into an elongated rigid form (sickle shape). Sickle-shape cells, being less flexible, get stuck in small blood vessels causing vaso-occlusive disease, leading to local ischaemia and acute inflammation

When re-oxygenation occurs, HbS polymers break and the erythrocyte’s shape rapidly reverses into normal biconcave shape. This process of sickling and unsickling goes on and off until the erythrocyte membrane is no longer flexible. Irreversible sickle cells undergo either intravascular haemolysis or extravascular removal by the reticulo-endothelial system resulting in anaemia and splenic sequestration. In addition, free haem and haemoglobin contribute to the vascular damage. 

SCD, therefore, is not only a mechanical disease but there are also many other cellular and plasma factors as well as endothelial interaction that generate chronic inflammation

There is a complex interaction between blood cells (not only red blood cells), endothelium and plasma factor which results in acute tissue hypoxia, chronic inflammation and endothelial vasculopathy. 

Figure 1: Clinical manifestations and long-term consequences of sickle cell disease

Training and education on sickle cell disease:

Training and education are crucial to improve morbidity and mortality. Since the pathophysiology is quite complex, clinicians should be vigilant and mindful of all the possible clinical manifestations. Haematology specialist clinics are key to manage the chronic side of the disease, while ED doctors should be able to act rapidly on the common acute emergencies.

Furthermore, educating both patients and their families is important in order to achieve good treatment compliance and better clinical outcomes. Without medical intervention, sickle cell patients have a reduced life expectancy (about 50-80% of sickle cell patients in low income countries die within the first five years of life) while in high income countries 98% of SCD patients will reach their 18th birthday.

From EM3.org.uk with thanks

A 15-month-old Kenyan boy presents to ED with right hand swelling. He had a temperature of 38.5°C and was crying inconsolably. His mother says that hand swelling episodes may have happened before when he was living with grandparents in Kenya. The patient was born in Mombasa, and his mother moved to the UK six months ago, while he remained with his grandparents until recently when he arrived in the UK.

On clinical examination, he has marked swelling over the proximal right ring finger plus diffuse swelling and erythema over the dorsum of the hand.

Investigations:

Bloods show Hb of 8 g/L, White cell count 13x109/L, Platelets 570 x109/L, CRP 35mg/L.

Blood film shows sickle cells and a further sample was sent for confirmation of diagnosis.

Blood culture is pending.

XR shows a patchy area of lucency with periostitis and soft tissue swelling of metacarpals or metatarsals region. (see a good x-ray example of osteomyelitis here)

The patient was started on intravenous antibiotics (ceftriaxone 50mg/kg OD) and was taken to theatre for exploration. In theatre, the patient was noted to have purulent fluid within the subperiosteal space of the right fourth proximal phalanx. Fluid culture yielded growth of non-typhoidal Salmonella enterica.

Why is it important to know whether this child has sickle cell disease? What key elements from history taking would support the diagnosis of sickle cell disease?

How is sickle cell disease diagnosed?

What could be the differential diagnosis?

Why are sickle cell patients more susceptible to severe infections?

What strategies can be implemented to prevent infections in the asplenic patient?

Why is it important to know whether this child has sickle cell disease?
What key elements from history taking would support the diagnosis of sickle cell disease?

How is sickle cell disease diagnosed?

What could be the differential diagnosis?

Why are sickle cell patients more susceptible to severe infections?

What strategies can be implemented to prevent infections in the asplenic patient?

A 10-year-old boy with known SCA presents to ED due to severe pain in the legs. At home, he has had 24 hours of alternating paracetamol and ibuprofen, but the pain was so unbearable that his parents came to hospital in the middle of the night. He is apyrexial. His parents are also worried as he has had 3 hours of priapism.

How would you evaluate this child’s pain?

What medications would you give to control pain at home?

What medications would you give to control pain in hospital?

How would you treat priapism?

How would you evaluate this child’s pain?

What medications would you give to control pain at home?

What medications would you give to control pain in hospital?

How would you treat priapism?

A 6-year-old girl from Saudi Arabia was referred by her General Practitioner to the local emergency department. She complained of cough and runny nose for 3 days.  She is known to have sickle cell anaemia. She had had several episodes of acute pain crises in the past. She attends sickle cell clinics regularly. She is on folic acid 5mg OD PO, penicillin V 250mg BD PO. For a pain crisis she has PRN paracetamol, ibuprofen and dihydrocodeine.  She also suffers from asthma occasionally and she is on salbutamol inhalers as required.

Vitals: Temperature 39.5, HR 100 beats per minute, Respiratory Rate 35, saturations 90% at room air. Blood pressure 95/60 mg/Hg.

On examination, she has pallor, no jaundice. On auscultation, there is bilateral wheeze. On abdominal palpation, the spleen is enlarged.

You order some investigations including a Chest CXR.

What features might you see on the chest XR that will help you to diagnose the patient?

What would be the appropriate acute management?

Would you consider this patient for blood transfusion?

What is the role of hydroxycarbamide?

What features might you see on the chest XR that will help you to diagnose the patient?

What would be the appropriate acute management?

Would you consider this patient for blood transfusion?

What is the role of hydroxycarbamide?

An 8-year-boy from Nigeria presented to ED with an acute right-sided hemiplegia. He is known to have sickle cells and he is under the care of the haematology department. He has been on holiday for 2 months in Nigeria and has not been compliant with his usual treatment. On examination, he looks pale and you can feel the spleen on abdominal palpation.

How common is cerebro-vascular disease in sickle cell patients?

What would be the acute management of this child?

What is the role of transcranial dopplers in primary prevention of strokes?

What strategies are useful for secondary stroke prevention?

In the above case, what could be the cause of the pallor (anaemia)?

How common is cerebro-vascular disease in sickle cell patients?

What would be the acute management of this child?

What is the role of transcranial dopplers in primary prevention of strokes?

What strategies are useful for secondary stroke prevention?

In the above case, what could be the cause of the pallor (anaemia)?

Question 1

Answer 1

Question 2

Answer 2

Question 3

Answer 3

Question 4

Answer 4

Question 5

Answer 5

Question 6

Answer 6

References

Adewoyin AS. Management of sickle cell disease: A review for physician education

in Nigeria (Sub-Saharan Africa). Anemia; 2015.DOI:10.1155/2015/791498.

Jain S, Bakshi N, Krishnamurti L. Acute Chest Syndrome in Children with Sickle Cell Disease. Pediatr Allergy, Immunol Pulmonol 2017; 30: 191–201.

Macharia AW et al. Clinical Epidemiology of SCA in Africa.Am J Hematol 2018; 93: 363-370

Rubin LG, Schaffner W. Care of the Asplenic Patient. 2014; 349–356.

Sinkin JC, Wood BC, Sauerhammer TM, et al. Salmonella osteomyelitis of the hand in an infant with sickle cell disease. Plast Reconstr Surg – Glob Open 2015; 3: 83–86.

Stinson J, Naser B. Pain Management in Children with Sickle Cell Disease. 2003; 5: 229–240.

Ware et al. Sickle cell disease. Lancet 2017; 390: 311-323

Guidelines

From http://www.sickkids.ca/pdfs/haematology-oncology/8217-sicklecellguidelines2006.pdf 

Acute Chest Syndrome or Pneumonia : Guidelines for Management in Children with Sickle Cell Disease Acute Chest Syndrome or Pneumonia : Guidelines for Management in Children with Sickle Cell Disease. 2018; 1–7.

From King’s College Hospital Guidelines:  Blood Transfusions in Children with Haemoglobinopathies Blood Transfusions in Children with Haemoglobinopathies. 2010; 1–9.

From: https://www.sicklecellsociety.org/paediatricstandards/

Sickle Cell Disease in Childhood: Standards and Recommendations for Clinical Care. 2019, 3rd edition.

Websites

https://radiopaedia.org/articles/sickle-cell-disease-acute-chest-syndrome-1?lang=gb

https://emergencymedicinecases.com/sickle-cell-disease-management-rapid-reviews-video/

https://sicklecellanemianews.com/ketamine/

https://www.rcpch.ac.uk/sites/default/files/2019-04/20160203%20Key%20Recommendations%2008.04.19.pdf

Please download our Facilitator and Learner guides

Author

  • Beatrice Zanetti was born in Italy but grew up in Spain where she studied medicine. After travelling for a bit, she is now a paediatric registrar in London with an interest in Infectious Diseases and global child health. In her spare time, she likes to crochet!

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