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Failure to Diagnose Sickle Cell Anaemia

Sickle cell anaemia is a genetic condition that sees the red blood cells, which are responsible for carrying blood around the body, develop abnormally.

The sickle cell gene

The sickle cell gene is a genetic mutation that causes the red blood cells to turn into a crescent shape. This will not cause many (if any) problems if you only have one mutated copy of the gene. This is because you receive one copy of a gene from your mother, and one from your father. If only one copy is abnormal, you will remain healthy. Nevertheless, you will carry the sickle cell trait and pass this on to your children. This is particularly prevalent in areas where malaria is widespread, as the sickle cell gene helps the body's immune system fight the disease. For example, up for 25% of people whose family origins are in Nigeria carry the sickle cell.

What is sickle cell anaemia?

However, problems will arise if you inherit the sickle cell gene from both parents. You will have two copies of the mutated gene, meaning your red blood cells will definitely develop abnormally.

Rather than being round and flexible, your red blood cells will become a curved sick shape. Because of their shape, the cells cannot hold as much oxygen, while they also have a shorter lifespan. This will cause a shortage of oxygen in the body, leading to a condition known as sickle cell anaemia. This has many of the same symptoms as normal anaemia, including tiredness, shortness of breath and heart palpitations.

But unlike normal anaemia, sickle cell anaemia can lead to severe complications most notable a sickle cell crisis.

Sickle cell crisis

A sickle cell crisis happens when the red blood cells become stuck in a blood vessel, obstructing blood flow and depriving tissues of oxygen. Tissues which are deprived in this way give out excruciatingly severe throbbing pain which can last for as little as a few minutes to as much as a few weeks. Blockage of vessels supplying major organs can cause a variety of other complications including stroke, kidney failure and poor circulation in the lungs (known as acute sickle chest syndrome).

Therefore it is important a sickle cell crisis is treated appropriately, or the consequences could be devastating. For example, a patient with acute sickle chest syndrome will need a blood transfusion along with mechanical ventilation. This must be provided without delay if a patient is to recover.

What if doctors do not provide appropriate treatment?

If you or your loved one has been admitted to hospital with complications related to sickle cell anaemia but doctors have failed to make a timely diagnosis and provide the appropriate treatment, there could be grounds for a medical negligence claim.

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