Beta-thalassemia is one of most common autosomal recessive disorders worldwide. In France, 5 to 10 new major or intermedia forms are diagnosed annually and the global prevalence is about 500 cases. Since 20 years and thanks to the generalization of iron chelator treatments, the life expectancy has dramatically increased. Nearly 90% of the β-thalassemic alleles are point mutations easily identified by Sanger sequencing or dedicated methods. The remaining 10% are deletions detectable by MLPA or CGH Array. The alpha-globin genotype is also essential in the exploration of beta-thalassemia because an alpha-thalassemia improves the clinical state whereas an alpha triplication worsens it. The additional genotyping of a few HbF inducer polymorphisms allows to predict the age of the first transfusion, thanks to a recent dedicated algorithm, making beta-thalassemia one of the first potential application of predictive medicine. Gene therapy, pre-implantatory diagnosis and new drugs (Sotatercept®, hepcidin-like molecules) have also recently contributed to make beta-thalassemia a main scientific topic again.
Keywords: beta-thalassemia; diagnosis; pathophysiologie; review.