Sickle cell anaemia is an inherted genetic condition in which there's an abnormality in haemoglobin, the oxygen-carring protein found in red blood cells.
People with sickle cell anaemia have a type of haemoglobin known as sickle haemoglobin, which is different from normal haemoglobin(HbA). Normal red blood cells can bend and flex easily, and so travel around the blood vessel easily. When sickle haemoglobin gives up its oxygen to the tissues, it sticks together to form long rods inside the red blood cells, making these cell rigid and sickle-shaped. They are then less able to squeeze through small blood vessels. These small blood vessels easily become blocked, preventing oxygen from getting through and causing severe pain and damage to the organs.
WHAT ARE THE SYMPTOMS?
Blockage of a blood vessel cause an attack known as a crisis. this is more likely to happen when the person is stressed by another illness, exhaustion, cold, dehydration and other problems.
organs such as the liver, kidney, heart, lungs and spleen become demaged, causing severe pain, especially in the red blood cells also break up easily, leading to anaemia.
WHO'S AFFECTED?
More than 12,500 people in the UK have sickle cell anaemia. the majority of them are of africans or carbbean descent, although it also affects those from asia, the middle East and the Eastern mediterranean. Those who have one HbA gene and one HbS gene are said to have sickle cell trait. Sickle cell anaemia is an autosomal recessive genetic condition. Everyone has two copies of the haemoglobin gene, one from each parent. those with sickle cell anaemia have two HbS genes. Those who have one HbA genes and one HbS gene are said to have sickle cell trait.
There are 240,000 carriers of sickle cell anaemia and they're only at risk of problem uner extreme condititons, such as during major surgery.
HOW'S IT DIAGNOSED?
Testing during pregnancy, from elven 11 weeks and usually with CVS (Chorionic Villus Sampling), can identify the haemoglobin type of the body, while adults can easily be screened.
WHAT'S THE TREATMENT?
There's nocure for sickle cell anaemia, but the frequency and severity of crises and their complications can be reduced by prompt recognition and treatment. Bone marrow transplants have been used in some cases and, while it is still early days, the proceduce hold promise for the future.
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