The relationship between Genotype and Sickle Cell

Did you know that by being conscious of what your Genotype is can help prevent Sickle cell?

If you’re someone who wants to have children down the line then it is important that you read this. Although all people can get Sickle Cell disease it is particularly common in people with an African or Caribbean family background.

Firstly, let me explain what Sickle Cell is. Sickle Cell is an inherited form of anaemia and is a condition where there aren’t enough healthy red blood cells to carry adequate oxygen through the body. People with sickle cell disease produce unusually shaped red blood cells that can cause problems because they do not live as long as healthy blood cells and can block blood vessels.

Nearly all the major symptoms of sickle cell anaemia are the direct result of the abnormally shaped, sickled red blood cells blocking the flow of blood that circulates through the tissues of the body. The tissues with impaired circulation suffer damage from lack of oxygen and the damage to the tissues and organs of the body can cause severe disability. Those with sickle cell anaemia endure episodes of intermittent "crises" of variable frequency and severity, depending on the degree of organ involvement.

The major features and symptoms of sickle cell anaemia include:

· Fatigue and anaemia

· Pain crises

· Dactylitis (swelling and inflammation of the hands and/or feet) and arthritis

· Bacterial infections

· Sudden pooling of blood in the spleen and liver congestion

· Lung and heart injury

· Leg ulcers

· Aseptic necrosis and bone infarcts (death of portions of bone)

· Eye damage

Knowing your Genotype is important if you want to have children as Sickle cell disease is caused by a gene that affects how red blood cells develop. The affected gene is a Sickle Cell trait which puts you at risk of having children with sickle cell disease, if your partner is also a carrier or has sickle cell disease themselves.

If both parents have the gene, there's a:

• 1 in 4 chance each child you have will not have sickle cell disease or be a carrier

• 1 in 2 chance each child you have will be a carrier, but will not have sickle cell disease

• 1 in 4 chance each child you have will be born with sickle cell disease

Here are Genotype’s and the possibility of your child getting Sickle Cell:

· AA + AA = 0%

· AA + SS = 0%

· AS + AS = 25%

· SS + AS = 50%

· SS + SS = 100%

You can find out if you're a carrier of sickle cell by having a simple blood test.

The NHS Sickle Cell and Thalassaemia Screening Programme has a detailed leaflet about being a sickle cell carrier (PDF, 773kb).

Anyone can ask to have a free blood test to find out if they're a carrier at any point.

You can request the test from your GP surgery or nearest genetic counsellor, who'll discuss the result and implications with you if you're found to carry sickle cell.