Thalassemia: genotypes and phenotypes.

Abstract excerpt

The large degree of phenotypic heterogeneity of thalassemia can now be related to the underlying genomic defects. This information has accumulated rapidly over the last years through the recent advances in molecular technology. The list of main types of thalassemia (alpha or beta) that can be differentiated includes several gene deletions (complete or partial) and point mutations (or very short deletions). These...

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