some common haemaglobin mutants
Last reviewed 01/2022
More than 430 abnormal haemoglobins have been described. The majority result from point mutations in the globin genes.
Examples include:
| Hb type | Point Mutation |
Consequence |
| HbS | beta-6 | sickle cell disease |
| HbC | beta-6 | |
| HbE | beta-26 | |
| HbM Boston | beta-58 | methaemoglobinaemia |
| HbM Saskatoon | beta-63 | methaemoglobinaemia |
| Constant Spring | alpha-141 | alpha thalassaemia |