September is Sickle Cell Awareness Month in the US and this gives us the perfect opportunity to focus a bit of attention on this condition which is more common in the black community. In this week’s blog we provide a quick introduction.
What is Sickle Cell?
Sickle cell anaemia is an inherited condition where the red blood cells which carry oxygen around our body develop into an abnormal shape. Instead of being round they form into a sickle shape i.e. a semi-circle. These abnormally shaped blood cells are sticky and stiff and they can block blood flow into your tissues and organs. The reduction in blood flow to your organs can cause pain, organ damage and increase a person’s chance of developing infections.
What Causes Sickle Cell?
It is caused by faulty gene which will have been inherited from the patient’s parent. The person would have inherited one copy of the gene from their father and another copy of the gene from their mother. If you only inherit one of the faulty genes you will not develop full-blown sickle cell, you will be a carrier of the gene, but you can pass this gene down to your children.
If you are a carrier of the sickle cell gene you have enough normal blood cells to ensure that your blood flows adequately throughout your body but as a carrier you do have to be careful in situations where oxygen levels are low like when mountain climbing and scuba diving.
Complications of Sickle Cell
People with sickle cell may experience a number of symptoms and complications; everyone is different so each individual will have a different experience with sickle cell. You may experience any of the following:
Episodes of pain (Sickle cell crisis)
This is the most common complication of sickle cell and occurs when sickle shaped blood cells block the blood vessels that supply a particular tissue. This means oxygen is unable to get to that tissue and it becomes starved of its energy source. This causes tissues to become damaged – this causes the pain. Repeated episodes eventually lead to organ damage. The episodes can affect your ribs, spine, pelvis, abdomen, chest, legs and arms.
Anaemia
Anaemia is a decrease in the number of red blood cells in the body. Sickle cells do not live for a long time and when they die they are not replaced quickly enough so sickle cell sufferers will have a low red blood cell count which can lead to:
· Shortness of breath
· Feeling tired all the time
· An irregular heart beat
Infections
Children with sickle cell are prone to developing infections such as pneumonia, bone infections and meningitis. If your child has sickle cell they may need to have some additional vaccinations or be given antibiotics as a precaution.
Jaundice and Gallstones
The rapid break down of the sickled cells can lead to the build up of a yellow waste product called bilirubin. This causes the yellowing of the skin and the whites of the eye, this is called jaundice. The bilirubin can also solidify forming gallstones.
Stroke and Acute Chest Syndrome
If sickle cells block the blood flow to the brain this can lead to a stroke, and if it blocks the blood flow to the lungs this can result in acute chest syndrome where patients experience chest pain and difficulty breathing.
Treating Sickle Cell
Sickle cell cannot be cured and a treatment plan is developed to help sickle cell sufferers manage their disease. The aim of any treatment is to:
· Prevent episodes of pain
· Relieve pain
· Minimise any complications
· Treat any other symptoms
Diagnosing Sickle Cell
Sickle cell is diagnosed through a blood test. When a person has sickle cell this will become apparent when they are a child. If you are worried that your child has sickle cell you can arrange for them to have the blood test by making an appointment to see your GP. For couples who are expecting a baby and may be concerned that their baby may inherit sickle cell, your unborn baby can be tested from eleven weeks into your pregnancy. You can speak to your GP or obstetrician about this.
More Information
For more information on sickle cell please visit the Sickle Cell Society’s website
