Beta-thalassaemia prototype of a single gene disorder with multiple phenotypes.

Abstract excerpt

As the defective genes for more and more genetic disorders become unravelled, it is clear that patients with the same genotype can have many different clinical conditions even in monogenic disorders. The remarkable phenotypic diversity of the beta thalassaemias is prototypical of how the wide spectrum in disease severity can be generated. The most reliable and predictive factor of disease phenotype is the nature...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Alleles
• Share to beta-Thalassemia
• Share to Genetic Variation