Sickle cell anaemia
Sickle cell anaemia is a disease characterised by sickle-shaped red blood cells.
It is caused by abnormal haemoglobin proteins that are the result of a single base substitution in the haemoglobin gene.
This single base substitution is a missense mutation.
The 6th amino acid in the haemoglobin protein, normally glutamic acid, is replaced with valine in sickle cell anaemia. This change alters the overall structure of the protein.
Sickle cell anaemia reduces the ability of red blood cells to pick up oxygen and causes the cells to stick together, causing pain and reducing blood flow.
It is a life limiting disease and includes respiratory and vascular complications.