What is sickle cell disease and what are the symptoms?

A TREATMENT for sickle cell disease is being rolled out across the NHS to thousands of patients in England.

Sickle cell disease is a group of inherited conditions that sees red blood cells die early, leaving a shortage in supply of healthy red cells.

It mainly affects people of Caribbean, African, Middle Eastern, Eastern Mediterranean and Asian origin.

The NHS announced today that drug Crizanlizumab would be delivered by transfusion drip and will work by binding to a protein in the blood cells to prevent the restriction of blood and oxygen supply that lead to a sickle cell crisis.

Patients who have sickle cell suffer with episodes – these make it hard for them to continue with everyday life and it can be disruptive to their work.

The new drug is set to reduce the number of times a patient with sickle cell goes to A&E by two fifths.

Announcing the new treatment, Amanda Pritchard, NHS chief executive, said the drug deal, struck by the NHS, would help as many as 5,000 people over the next three years to have a much better quality of life.

What is sickle cell disease?

Sickle cell disease refers to a number of conditions that effect the red blood cells in the body.

The most serious form of sickle cell disease is called sickle cell anaemia.

People with the disease produce unusually shaped red blood cells.

This abnormality then creates medical problems because they do not live as long as healthy blood cells and can become stuck in the blood vessels.

Sickle cell is something you are born with and is a serious lifelong condition that needs long-term treatment.

Who can get sickle cell disease?

Anyone whose parents carry the faulty gene which causes sickle cell can be born with the disease.

If both parents have the faulty gene there is a 25 per cent chance of each child they have being born with the condition.

The parents themselves will often times not know that they are a carrier of the disease as they may not suffer from it.

Although sickle cell can affect anyone, it is more common in those from African, Caribbean, Middle Eastern, Eastern Mediterranean and Asian decent.

In the UK, it is particularly common in people with an African or Caribbean background.

What are the symptoms of sickle cell disease?

Symptoms can start from just a few months old.

Early discovery is key as children have few or no continuing symptoms if treatment is started early on.

Episodes of pain – known as sickle cell crises – are one of the most common warning signs, they occur when a blood vessel becomes blocked due to the abnormal shape of the red blood cells.

These 'crises' can affect various areas of the body, including:

  • hands or feet (especially in young children)
  • ribs and breastbone
  • spine
  • pelvis
  • tummy
  • legs and arms

The frequency and severity of these episodes changes from person to person.

The average is one bad episode a year.

It is not always clear what triggers crises, some common causes include: weather (wind, rain or cold), dehydration, stress or strenuous activities.

Those with sickle cell are also more prone to infection – particularly if they are young – because the condition means that the body cannot fight bacteria and viruses as effectively.

Small infections such as colds can develop into possibly life threatening conditions like meningitis.

There are many other symptoms and possible problems that could affect those suffering with sickle cell disease. For a full list visit the NHS website.

What is the treatment for sickle cell?

The new treatment will be made available to everyone over the age of 16 who suffer from multiple sickle cell crises, or vaso-occlusive crises as they are scientifically known.

The National Institute for Health and Care Excellence (NICE) is set to publish final guidance on Crizanlizumab which will take into consideration the data that will be collected as part of the agreement.

Health and Social Care Secretary Sajid Javid said: “It is fantastic news that this ground-breaking new treatment for sickle cell disease will soon be available in England where it will make a difference to thousands of people’s lives.

“The UK has proven itself to be a world leader in rolling out innovative, life-saving treatments to ensure every NHS patient gets access to the medicines they deserve.

“This is a historic day for those living with this condition and I want to extend my thanks to NICE, NHS England and Novartis for their work to provide this vital treatment to the patients who need it.”

What is sickle cell anaemia?

Anaemia caused by sickle cell disease is not the same as anaemia caused by iron deficiency.

Nearly everyone who has sickle cell disease will also have anaemia – a condition where the haemoglobin in the blood is low.

Haemoglobin is found in red blood cells and is what helps transport oxygen around the body.

Generally this does not cause any further symptoms, but if an affected person also gets infected with parvovirus – commonly known as slapped cheek syndrome (a condition that mainly effects children and babies and causes a bright red rash to appear on the cheeks) – they may need a blood transfusion.

The same treatment is used for children if they experience a swelling of the spleen, another cause of sudden onset anaemia.

Additional symptoms of this include: headaches, rapid heartbeat, dizziness and fainting due to a lack of oxygen through the body.

People with sickle cell anaemia are at a higher risk for stroke, hypertension (high blood pressure), organ damage, blindness, skin ulcers, and gallstones.

Is there a cure for sickle cell disease?

Stem cell or bone marrow transplants are the only way to cure sickle cell disease and the new drug will help treat patients with the condition.

Transplants are not used often because of the huge risks involved in the procedures.

Extreme treatments like this are only used when the long-term benefits of a transplant are deemed to outweigh the short term risk of the procedure.

Sickle cell anaemia took the life of 42-year-old rapper Prodigy.

He suffered complications from a sickle cell anaemia crisis and did not respond to treatment.

And football stats analyst Evan Nathan Smith, 21, died after calling 999 from his hospital bed when ‘staff refused him oxygen’.

Doctors told an inquest in 2021 that Evan, who was in North Middlesex Hospital in north London for sepsis – which triggered a sickle cell crisis – most likely would have survived had he been given the right treatment.

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