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Protein found in red blood cells responsible for transporting oxygen around the body.

Use in clinical context

Haemoglobin is a complex protein made up of several polypeptide chains, the production of which involves multiple genesVariants 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.

Related terms

Gene | Protein | Variant

Last updated on 20th September, 2021