Use in clinical context
Haemoglobin is a complex protein made up of several polypeptide chains, the production of which involves multiple genes. Variants in any of these genes can potentially affect the resulting haemoglobin protein with important implications for oxygen transport.
A group of inherited disorders called haemoglobinopathies are caused by variants in genes involved in the production of haemoglobin polypeptide chains. These conditions include sickle cell disease, beta-thalassaemia and alpha-thalassaemia.