What is sickle cell disease?
Sickle Cell Disease also known as sickle cell disorder, is the
collective name for several inherited blood conditions that mainly affect people of African, Caribbean, Middle Eastern, South Asian, Southeast Asian, and Mediterranean descent, but
are also though rarely, found in the Northern European population.
Those with sickle cell disease produce red blood cells that are unusually shaped. This can cause them to get stuck when moving through small blood vessels, stopping the supply of oxygen to parts of the body.
This is known as a 'sickling crisis'. This can cause pain, tissue damage, and can lead to other serious complications, such as a stroke, or blindness.
People with Sickle Cell Disorder have symptoms which include severe pain, anaemia, and an increased risk of infection.
What does it mean to be a carrier of sickle cell?
Carriers of sickle cell, also known as having the sickle cell trait, means you carry one of the genes that cause the condition. They do not have it themselves.
They would have inherited the sickle cell gene from either of their parents and could pass it on to their children. The red blood cell of a carrier contains haemoglobin A and S (Hb AS).
How could carrying sickle cell affect your child?
If you are a carrier of sickle cell (Hb AS) and your partner does not carry any haemoglobin disorder (Hb AA) there is no particular problem for your child.
In each pregnancy there are two possibilities:
1) The child may not carry any haemoglobin disorder (Hb AA).
2) The child may inherit sickle cell trait (Hb AS)
If both you and your partner carry sickle cell (Hb AS) then there is a chance that you could have a child with sickle cell anaemia (Hb SS).
In each pregnancy there are three possibilities:
1) The child may not carry any haemoglobin disorder (Hb AA). 25% chance.
2) The child may inherit sickle cell trait (Hb AS). 50% chance.
3) The child may inherit haemoglobin S from both parents. This child would have sickle cell anaemia (Hb SS). 25% chance.
What to do if they are thinking of having children?
If they are thinking of having children, they should inform their partner they are carriers of beta thalassaemia and ask him or her to have a blood test “for haemoglobin disorders”.
This test should be done before they start a pregnancy or as soon as possible once a pregnancy has started. This can be arranged by your GP. If their partner is not a carrier there is nothing to worry about.
What to do if their partner is also a carrier?
They should ask their GP for an immediate appointment with a specialist counsellor. This is particularly important if they have already started a pregnancy. They can also contact the counselling service directly at the Project.
Is there anything else a carrier should do?
If a carrier has siblings or already has children, they need to know that they may also carry haemoglobin S. They should ask their GP to arrange a family screening
Comentários