World Sickle Cell Day is on the 19th of June, here is some information about Sickle Cell Disease:
What Is Sickle Cell Disease?
Sickle Cell disease is the name for a group of inherited conditions that affect the red blood cells. The most serious type is called Sickle Cell Anaemia.
Sickle Cell disease mainly affects people of African, Caribbean, Middle Eastern, Eastern Mediterranean and Asian origin. In the UK, it’s particularly common in people with an African or Caribbean family background.
People with sickle cell disease produce unusually shaped red blood cells that can cause problems because they don’t live as long as healthy blood cells and they can become stuck in blood vessels.
Sickle cell disease is a serious and lifelong condition, although long-term treatment can help manage many of the problems associated with it.
Symptoms of Sickle Cell disease
People born with sickle cell disease sometimes experience problems from early childhood, although most children have few symptoms and lead normal lives most of the time.
The main symptoms of sickle cell disease are:
– painful episodes called sickle cell crises, which can be very severe and can last up to a week
– an increased risk of serious infections
– anaemia (where red blood cells can’t carry enough oxygen around the body), which can cause tiredness and shortness of breath.
Some people also experience other problems such as delayed growth, strokes and lung problems.
Causes of Sickle Cell disease
Sickle cell disease is caused by a faulty gene that affects how red blood cells develop.
If both parents have this faulty gene, there’s a 25% chance of each child they have being born with sickle cell disease.
The child’s parents often won’t have the condition themselves because they’re only carriers of the sickle cell trait (see below).
Types of Sickle Cell Disease
There are quite a few different variants to Sickle Cell Disease, here is the breakdown:
Hemoglobin SS Disease; is the most common type of sickle cell disease. It occurs when you inherit copies of the hemoglobin S gene from both parents. This forms hemoglobin known as Hb SS. As the most severe form of SCD, individuals with this form also experience the worst symptoms at a higher rate.
Hemoglobin 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 anemia is less severe.
Hemoglobin 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 Hemoglobin S Beta thalassemia. Symptoms are not as severe.
Beta-Zero Thalassemia; is the second type of beta thalassemia. It has similar symptoms to Hb SS anemia. However, sometimes the symptoms of beta-zero thalassemia are more severe. It is associated with a poorer prognosis.
Treatments for Sickle Cell disease
People with sickle cell disease will need specialist care throughout their lives.
A number of treatments are available to help manage problems caused by the condition. For example:
– painful episodes can sometimes be prevented by drinking plenty of fluids and staying warm
– pain can often be treated with ordinary painkillers such as paracetamol or ibuprofen, although sometimes treatment with stronger painkillers in hospital may be necessary
– the risk of infections can be reduced by taking daily antibiotics and ensuring you’re fully vaccinated
– a blood transfusion may be needed if severe anaemia develops
– a medicine called hydroxycarbamide (hydroxyurea) can reduce the symptoms if they’re interfering with your or your child’s life
– having regular blood transfusions (usually every 3-4 weeks) may be helpful if problems continue or get worse, or there are signs of damage caused by the condition
Stem cell or bone marrow transplants can potentially cure sickle cell disease, but they’re not done very often because of the significant risks involved.
Carriers of Sickle Cell (sickle cell trait)
A carrier of sickle cell is someone who carries one of the faulty genes that causes sickle cell disease, but doesn’t have the condition themselves. It’s also known as having the sickle cell trait.
People who carry sickle cell won’t develop sickle cell disease, but are at risk of having a child with the condition if their partner is also a carrier.
You can request a blood test to check if you have carry sickle cell from your GP surgery or nearest sickle cell and thalassaemia centre.
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