Sickle Cell Disease

Overview

Sickle cell disease (SCD) is the UK’s most common inherited blood disorder, affecting an estimated 12 000 – 15 000 people and growing by about 250 new cases a year. It mostly affects people of Black African and Black Caribbean heritage and can cause lifelong episodes of severe pain, anaemia and multi-organ damage.

At The Royal Buckinghamshire Hospital, Aylesbury, our consultant-led haematology service delivers rapid diagnosis, same-day symptom relief and long-term disease-modifying care, all under one historic roof.

What Happens in Sickle Cell Disease?

A single gene mutation makes haemoglobin form rigid “sickle” shapes when de-oxygenated. These misshapen red cells:

• block small blood vessels, triggering vaso-occlusive crises (pain episodes)
• break down early, leading to chronic haemolytic anaemia
• damage bones, lungs, kidneys, brain and other organs over time

Carriers (sickle-cell trait) are usually healthy but can pass the gene to their children.

Common Symptoms and Complications

• Sudden bone or chest pain crises
• Fatigue, breathlessness and jaundice
• Repeated chest infections or acute chest syndrome
• Stroke or transient ischaemic attack (more common in children)
• Priapism, leg ulcers or avascular necrosis of the hip
• Delayed growth and puberty in teenagers
• Pregnancy complications such as pre-eclampsia and premature birth

When to Seek Medical Advice

Contact your GP, call NHS 111 for out-of-hours guidance, or attend your nearest emergency department if you experience:

• Fever above 38 °C, chest pain or difficulty breathing
• A pain crisis lasting longer than 12 hours despite home medication
• Sudden weakness, facial droop, changes in vision or speech
• Signs of severe anaemia (marked tiredness, dizziness, palpitations)
• New or worsening pregnancy-related symptoms

Early intervention helps prevent life-threatening complications.

Diagnosis

• Specialist medical assessment – same-week appointments with our experienced physicians and sickle-cell nurse specialists.
• On-site laboratory tests – full blood count, reticulocyte count and high-performance liquid chromatography confirm genotype within 24 hours.
• CT scanning – rapid imaging to investigate complications such as chest crises, stroke or avascular necrosis via our CT Suite.
• MRI at The New Foscote Hospital – seamless transfer for advanced brain or spinal imaging when indicated.
• Multidisciplinary review – weekly meetings bring together nursing, pain management, physiotherapy and visiting haematology specialists to tailor your plan.

Treatment Options

Daily & preventive care

• Hydroxycarbamide (hydroxyurea) to boost foetal haemoglobin
• Penicillin and vaccinations to reduce infection risk
• Folic-acid supplementation for red-cell production
• Lifestyle coaching on hydration, temperature control and gentle exercise with our physiotherapy team

Managing a pain crisis

• Same-day intravenous fluids and opioid analgesia in our dedicated day-case unit
• Automated red-cell exchange transfusion to lower sickle-cell load and cut stroke risk
• Psychology-led coping strategies for chronic pain and anxiety

Disease-modifying & curative options

• Allogeneic stem-cell transplant – fast referral to national transplant centres if you have a matched donor
• CRISPR gene-editing therapy (exa-cel/Casgevy) – NHS-approved in 2025 for eligible patients aged ≥ 12 with recurrent crises; we coordinate assessment at designated gene-therapy hubs
• Emerging medicines – our team keeps you informed about new or reinstated treatments as regulatory reviews evolve

Why Choose Royal Buckinghamshire Hospital?

• Immediate access to sickle-cell nurses and experienced physicians – you bypass A&E queues for crises
• On-site CT imaging, day-case transfusion and rehabilitation in one historic building
• Seamless links to consultant haematologists and MRI at The New Foscote Hospital, 20 minutes away
• Private ensuite rooms for longer admissions, plus free on-site parking

Close to Oxford, Milton Keynes and London, with excellent road and rail connections

Frequently Asked Questions

Can lifestyle changes reduce the number of crises?
Yes. Staying warm, drinking plenty of fluids, avoiding extreme exertion and keeping vaccinations up to date all lower the risk of painful episodes.

Is sickle-cell disease curable?
A matched-donor stem-cell transplant or, for some people, the new exa-cel gene-editing therapy can provide a functional cure. Your care team will discuss eligibility and arrange referral if appropriate.

Is treatment only for children?
No. Adults benefit greatly from hydroxycarbamide, exchange transfusion and emerging therapies. Our service supports patients of all ages.

Call 01296 678 800 or enquire online to book an appointment or discuss your needs.