relationship between genotype and phenotype

Last reviewed 01/2018

Molecular Type Homozygous Heterozygous
beta+ Thalassaemia major or intermedia(HbA, HbF and HbA2) Thalassaemia minor (raised HbA2)
beta0 Thalassaemia major(HbF and HbA2) Thalassaemia minor (raised HbA2).
delta beta Thalassaemia intermedia (HbF) Thalassaemia minor (HbF 5-15%)
delta beta (Lepore) Thalassaemia major or intermedia (HbF and Hb Lepore) Thalassaemia minor (Hb Lepore 5-15%, HbA2 normal)
   ... non viable neonatal haemolysis. Thalassaemia minor in adults