Rare Diseases and Orphan Drugs

Sickle cell anaemia, also known as sickle cell disease (SCD), is a genetic blood disorder characterized by abnormal haemoglobin, the protein in red blood cells that carries oxygen throughout the body. In sickle cell anaemia, a mutation in the HBB gene leads to the production of abnormal haemoglobin known as haemoglobin S (HbS). When oxygen levels are low, such as during physical exertion or stress, the abnormal haemoglobin causes red blood cells to become rigid and assume a sickle or crescent shape instead of their normal round shape.

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