Following the presentations and discussion at the ITHANET Meeting at the TIF World Congress 2013, we contact you regarding a collaborative project entitled "Genotype/phenotype correlation studies for β-thalassaemia patients", which is coordinated through the ITHANET portal. The project aims to develop a universal set of markers and techniques for stratification of β-thalassaemia and SCD patients into treatment subgroups for:

1. onset and frequencies of blood transfusions,
2. choice of iron chelation,
3. induction of foetal haemoglobin,
4. prospective efficacy of gene therapy.

For genotype/phenotype correlation studies and patient stratification, detailed clinical data for patients with different genotypes will be collected. Currently more than 1000 patients with 14 different genotypes, as combinations of HbS and four β-thalassaemia mutations common in the Mediterranean region,have been included in the study. In order to expand the genotypic repertoire of the study, we are calling for new collaborators who are eager to have their own patients analysed and subcategorised and who are thus willing to contribute to this study with samples and data.

For more information, please contact This email address is being protected from spambots. You need JavaScript enabled to view it..

More information about the project: ITHANET project, ITHANET Forum.