If you are born with sickle cell anaemia, it is usually diagnosed when you are a child as you start to show symptoms fairly early on. Sickle cell anemia is an inherited disease; it is passed on from parent to child. If you have two faulty copies of the gene responsible, you will definitely experience sickle cell anaemia. If you only have one copy you are likely to be healthy, as the good gene compensates for the faulty one. You can, however, pass on the sickle cell anemia gene to your children. If your partner also has the faulty gene, your child has a one in four chance having the disease.
Sickle cell screening is therefore very useful and it can be done. It can inform couples if they are at risk of passing on sickle cell anaemia, giving them the option of having sickle cell screening as part of genetic pre-implantation diagnosis to minimise the risk to their children.
This article on screening for sickle cell anaemia is by Kathryn Senior, a freelance journalist who writes health, medical, biological, and pharmaceutical articles for national and international journals, newsletters and web sites.
What is sickle cell anaemia?
Sickle cell anaemia is also known as sickle cell anemia, sickle cell disease, or drepanocytosis. It is an inherited, life-long disorder caused by a genetic mutation in the haemoglobin gene. This mutation causes normally round red blood cells to take on an uncharacteristic, rigid ‘sickle’ shape. The cells become stiff and sticky and they don’t move easily through blood vessels, sometimes getting stuck and forming clumps. This brings on a ‘sickling crisis’ typical of sickle cell anaemia that can be very painful. It can also lead to infections and organ damage, potentially causing serious complications such as stroke or blindness.
The red blood cells of someone with sickle cell anaemia do not live as long as normal red blood cells, usually only for about 10 to 20 days, compared with an average of 120 days for normal red blood cells. People with sickle cell anemia therefore often have low numbers of red blood cells, which gives them ordinary anaemia. This can result in chronic tiredness, even without sickling crises.