About Sickle Cell
Sickle cell is the world’s most common, fasted growing genetic condition. To inherit sickle cell both parents have passed on the sickle cell gene. It is a serious, lifelong and debilitating condition, where the red blood cells, which carry oxygen around the body, develop abnormally. It is caused by a gene mutation, which gives the red cell its sickle shape. Instead of being round, soft and spongy, the sickled red cells are hard, sticky and long. This means they stick together, which causes them to get blocked and are unable to travel in the small blood vessels, and do not live as long as healthy red blood cells.
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A normal red cell lives for approximately 120 days, whereas sickled red cells live for between 10 and 20 days. This causes chronic anaemia which leads to fatigue. The anaemia in sickle cell is not due to iron deficiency. The blocking of the red blood cells, can result in unpredictable, intolerable episodes of severe pain, known as a sickle cell crisis. Strong pain relieve is given, such as
morphine.
Along with severe, acute and chronic pain, organ damage and a range of complications can occur. Organ damage such as damage to liver, lungs, kidneys, heart and spleen. Complications such as suffering from an acute chest syndrome, strokes and blindness to name a few. Death can occur due to the complications of sickle cell, therefore reducing the life expectancy of a sickle cell person.
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What may trigger a Sickle Cell Crisis?
Various factors will cause the red blood cells to get blocked which trigger a crisis. These include dehydration, infections, cold & extreme temperatures, low oxygen levels, stress, fatigue, hormonal changes such as menopause.
Treatments
A stem cell transplant also known as a bone marrow transplant is the only available cure. However, this is not widely available. It is an intensive treatment, where your blood stem cells are replaced with new, healthy stem cells from a suitable donor; usually a matched related donor. It carries a number of risks, so the risks and benefits are considered carefully.
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There are limited treatments to help manage the condition.
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Blood Transfusions/Blood exchanges
Transfusions can alleviate symptoms of sickle cell disorder by decreasing the number of sickle-shaped cells in the body. This reduces the likelihood of red blood cells clumping together, and blockages in blood vessels, which causes sickle pain, organ damage, and other serious complications. Some sickle patients are on a regular blood exchange programme, where they have blood removed and donor blood given every 4 to 8 weeks.
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There is a risk of iron over load, where individuals receive frequent blood transfusions, as part of their treatment and gain additional iron from the transfused blood. Over time this may lead to organ damage, but treatment is offered to remove some of the iron.
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Hydroxyurea also known as hydroxycabamide
This works by increasing the amount of foetal haemoglobin known as HbF in the blood, which helps to reduce the frequency of sickle cell crisis. It also reduces the ability of the red blood cells to stick to the lining of the blood vessel. This is beneficial as red blood cells stick to the lining of the blood vessel, which cause a crisis. There are risks and side effects with this medication, so careful management with your haematologist is essential.
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Voxelotor
On the 3rd May 2024, after decades of waiting for a new treatment for sickle cell disorder, NICE (National Institute for Health and Care Excellence) published, that it is recommending Voxelotor.
This was previously rejected, but The Sickle Cell Society won an appeal for NICE to review its decision. This was successful. Voxelotor is now available.
Antibiotics
Due to the increased risk of infections, those with sickle cell disorder are prescribed penicillin prophylactically daily. Often with sickle cell the spleen (main organ to help fight infection) is damaged and does not work well, therefore making the individual more prone to infections.
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Bacterial infections, particularly those caused by streptococcus pneumoniae can cause illnesses such as pneumonia, which can be life-threatening for those with sickle cell.
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Folic acid
People with sickle cell may not have enough red blood cells, due to the sickled red blood cells only lasting between 10 and 20 days. Folic acid will replete depleted folate stores and reduce symptoms of anaemia.
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Vaccinations
People with sickle cell are encouraged to have routine vaccinations to help fight infections.
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Supplements
It is important for people with sickle cell to have a balanced nutritious diet and to stay well hydrated. People with sickle cell may also want to enquire about supplements e.g vitamins and herbal remedies, to support overall health and wellbeing. They are not a substitute for a balanced diet or your regular medication.
Consult your professional healthcare provider before you take supplements, to ensure they do not interact with your medication.
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Advancements in Treatment
Collaborative efforts between researchers, clinicians, policymakers, and patient advocacy groups are driving the progress in research and improving outcomes for those living with sickle cell.
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Ongoing developments include understanding the mutation in the HBB gene that leads to abnormal haemoglobin (HbS), gene therapy trials and advancements in fetal haemoglobin.
Genotypes
If you have the sickle S gene and a second abnormal gene, it will give you sickle cell. These are examples of sickle combinations, which give you sickle cell.
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Hb SS
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Hb SC
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Hb S Beta + Thalassemia
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Hb S Beta 0 Thalassemia
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Hb S D Punjab
About Sickle Cell Trait
Having sickle cell trait means only one parent passed a sickle cell gene to the child. People with sickle cell trait do not have sickle cell, but they do carry a faulty sickle gene, which means that if your partner also has sickle cell trait, you could produce a child with sickle cell. For example, a child could inherit 2 S genes or a S and a C gene.
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Generally speaking, people with sickle cell trait do not have symptoms of sickle cell. However under extreme conditions such as dehydration, extreme temperatures e,g, extreme heat, high altitude or strenuous physical activity where you over exert the body,(known as exertional sicking) certain complications may develop similar to sickle cell.
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People with sickle cell trait also have a higher risk of Rhabdomyolysis (pronounced rab-do-mi-ol-i-sis); the breakdown of skeletal muscle tissue where the muscles begin to break down and can lead to various complications, including damage of the kidneys. Therefore it is important, as for those with sickle cell to stay hydrated.
A simple blood test at your GP surgery will inform you whether you have sickle cell trait.
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Babies should be tested at birth, but if people do not know their sickle cell status, we would encourage them to seek a blood test as soon as possible, aged 15+.
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If you have sickle cell trait, ensure you are given a hospital card; known as a Haemoglobinopathy Card.
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It is important to advise your healthcare provider (e.g. anaesthetist, dentist, surgeon), if you have sickle cell trait. This is crucial for planning and managing your care effectively. For example you may require oxygen, your haemoglobin levels may need to be check and to ensure you have adequate fluids.
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When both parents have Sickle Cell Trait there is a 1 in 4 chance in each pregnancy
that the child will have Sickle Cell Disorder
Diagram illustrating an example of how sickle cell is inherited
Help to eradicate this condition
Haemoglobin disorders can be prevented by carrier screening and genetic counselling. You can get a simple blood test at your GP surgery to find out if you carry the sickle cell gene, that way you can avoid having a child with another person with sickle cell trait.
Thalassaemia
Like sickle cell, thalassaemia is an inherited, red cell disorder where the body produces either none or insufficient haemoglobin than normal.
Visit the website below to learn more about thalassaemia.
UKTS.org