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 |