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:
relationship between genotype and phenotype