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 |
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