Sickle cell anaemia is an inherited genetic disease that affects red blood cells. A person will suffer from sickle cell anaemia if they inherit two faulty copies of the HBB gene. The HBB gene codes for one of the molecules needed to make adult haemoglobin.
In people with sickle cell anaemia, the majority of red blood cells are crescent, or sickle-shaped, due to an abnormal form of haemoglobin called HbS. These abnormal red blood cells break down after 10 days, compared with 120 days for normal red blood cells. More rapid breakdown of red blood cells reduces oxygen supply to the body's tissues, leading to anaemia. Individuals with sickle cell anaemia have a haemoglobin concentration of ~90 g per dm3, compared to ~150 g per dm3 in healthy adults.
Sickle-shaped red blood cells are less flexible than healthy red blood cells, increasing the likelihood of small blood vessels in the body becoming blocked. Blocked blood vessels cause sufferers painful episodes.
Current treatments include blood transfusions and bone marrow transplants. One drawback of regular blood transfusions is the risk of increasing iron levels in the blood to more than 200 µg per dm3.
In 2012, scientists announced a gene-editing technique called CRISPR-Cas9. This system uses a guide RNA to locate a specific sequence of DNA and the enzyme Cas9 to cut the DNA at that position. After the DNA is cut, the cell's natural repair mechanisms can be used to correct the faulty gene.
Casgevy is the first gene therapy treatment to be approved for use to treat sickle cell anaemia in patients over the age of 12 in both the UK and the US. The patient's own blood stem cells are extracted, modified using CRISPR-Cas9 and transplanted back into the patient. This treatment is designed as a one-time, single-dose infusion. In one trial, 24 out of 30 patients were reported to be free of severe symptoms for at least 12 months after a single treatment.
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"Sickle cell anaemia is an inherited genetic disease that affects red blood cells."
State two other components of the blood.