What is sickle cell anaemia?
Sickle cell anaemia, or sickle cell disorder (SCD), is a genetic disease of the red blood cells (RBCs). Normally, RBCs are shaped like discs, which gives them the flexibility to travel through even the smallest blood vessels. However, with this disease, the RBCs have an abnormal crescent shape resembling a sickle. This makes them sticky and rigid and prone to getting trapped in small vessels, which blocks blood from reaching different parts of the body. This can cause pain and tissue damage.
SCD is an autosomal recessive condition. You need two copies of the gene to have the disease. If you have only one copy of the gene, you are said to have sickle cell trait.
What are the symptoms of sickle cell anaemia?
Symptoms of sickle cell anaemia usually show up at a young age. They may appear in babies as early as 4 months old, but generally occur around the 6-month mark.
While there are multiple types of SCD, they all have similar symptoms, which vary in severity. These include:
- excessive fatigue or irritability, from anaemia
- fussiness, in babies
- bedwetting, from associated kidney problems
- jaundice, which is yellowing of the eyes and skin
- swelling and pain in hands and feet
- frequent infections
- pain in the chest, back, arms, or legs
Haemoglobin is the protein in red blood cells that carries oxygen. It normally has two alpha chains and two beta chains. The four main types of sickle cell anaemia are caused by different mutations in these genes.
Haemoglobin SS disease
Haemoglobin SS disorder is the most common type of sickle cell disorder. It occurs when you inherit copies of the haemoglobin S gene from both parents. This forms haemoglobin known as Hb SS. As the most severe form of SCD, individuals with this form also experience the worst symptoms at a higher rate.
Haemoglobin SC disease
Haemoglobin SC disease is the second most common type of sickle cell disease. It occurs when you inherit the Hb C gene from one parent and the Hb S gene from the other. Individuals with Hb SC have similar symptoms to individuals with Hb SS. However, the anaemia is less severe.
Haemoglobin SB+ (beta) thalassemia
Haemoglobin SB+ (beta) thalassemia affects beta globin gene production. The size of the red blood cell is reduced because less beta protein is made. If inherited with the Hb S gene, you will have haemoglobin S beta thalassemia. Symptoms are not as severe.
Haemoglobin SB 0 (Beta-zero) thalassemia
Sickle beta-zero thalassemia is the fourth type of sickle cell disease. It also involves the beta globin gene. It has similar symptoms to Hb SS anaemia. However, sometimes the symptoms of beta zero thalassemia are more severe. It is associated with a poorer prognosis.
Haemoglobin SD, haemoglobin SE, and haemoglobin SO
These types of sickle cell disease are more rare and usually don’t have severe symptoms.
A New Sickle cell treatment
A new sickle cell treatment has been announced by NHS the new drug called ‘crizanlizumab’ will be the first new treatment to become available for warriors with the disease. This drug is the first of its kind in the past 20 years – giving patients fresh hope of managing the disease.
Currently, there is no cure for sickle cell disorder and it affects 15,000 people in the UK. The new drug will be delivered by a transfusion drip and works by binding to a protein in the blood cells to prevent the restriction of blood and oxygen supply.
Hopefully this will help as many as 5,000 people over the next three years. People aged over 16 who experience multiple sickle cell crisis annually will be eligible for the treatment.
Sickle cell trait
People who only inherit a mutated gene (haemoglobin S) from one parent are said to have sickle cell trait. They may have no symptoms or reduced symptoms.
We recently did a campaign called Bonded By Blood: A Mother’s Story in memory of Richard Okorogheye who suffered from Sickle Cell disease. Mother’s of sickle cell warriors, and also blood cancer patients, other blood disorders and a new born baby who needed 17 units of blood came together across the UK to appeal for more Black donors to help people with sickle cell like Richard. Watch the video below sharing the stories of mothers with children of sickle cell.
To find out more about giving blood click here to gain more information on registering as a blood donor.
