Genetic modifiers of the β‐haemoglobinopathies

Abstract excerpt

Identification of the molecular basis of the beta-thalassaemias and sickle cell disease (SCD) has made it clear that patients with the same beta-globin genotypes can have very variable patterns of clinical expression. Extensive biochemical and pathophysiological studies over the last 50 years have derived two major modifiers--innate ability to produce fetal haemoglobin and co-inheritance of alpha-thalassaemia,...

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