Orphan designation: (S)-1-(5-((2,3-dihydro-[1,4]dioxino[2,3-b]pyridin-7-yl)sulfonyl)-3,4,5,6-tetrahydropyrrolo[3,4-c]pyrrol-2(1H)-yl)-3-hydroxy-2-phenylpropan-1-one, Treatment of sickle cell disease, 19/10/2020, Positive
Sickle cell disease is a genetic disease in which the red blood cells become rigid and sticky, changing from being disc-shaped to being crescent-shaped (like a sickle). The change in shape is caused by the presence of an abnormal form of haemoglobin, the protein in red blood cells that carries oxygen around the body.
In patients with sickle cell disease, the abnormal red blood cells attach to the walls of blood vessels and block them, restricting the flow of oxygen-rich blood to the internal organs such as the heart, lungs and spleen. Obstruction of blood vessels can cause episodes of severe pain (vaso-occlusive crises) and long-term damage to organs. Patients with the disease suffer repeated infections and anaemia (low red-blood-cell counts).
Sickle cell disease is a severe disease that is long-lasting and may be life-threatening because of damage to the heart and the lungs, anaemia and infections.
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