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Relationship between genotype and phenotype

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

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

 


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