thalassaemia major

Last reviewed 06/2021

This refers to a condition where the β globin synthesis is so reduced that regular blood transfusions are required to sustain life (1).

This refers to individuals who are:

• homozygous beta0 - ie beta0/beta0; or
• homozygous beta+ - ie beta+/beta+

Affected individuals develop profound anaemia from about the third month of life. Fetal haemoglobin (HbF) is generally raised to between 30 and 60%; the HbA2 concentration is variable.

Reference:

• (1) Standards for the Clinical Care of Children and Adults with Thalassaemia in the UK, United Kingdom Thalassaemia Society 2008