Haematology – Erythropathology

Strategic objectives

  • To verify how the presence of polymorphisms in the Bcl11A, HBS1L-MYB, and β-globin loci genes in patients with β-thalassaemia (major and intermediate) and sickle cell disease can modify the severity of the disease by increasing foetal Hb synthesis in these patients.
  • To find out whether the presence of polymorphisms (rs7482144; rs11886868; rs9483788; rs6934903, and rs4895441) related to the increase in foetal Hb could be responsible for the better response to treatment with hydrea in patients with thalassaemia and sickle cell anaemia.

Lines of research

  • Study of polymorphisms in the Bcl11A, HBS1L-MYB, and globin loci as genetic modulators of foetal Hb levels.
  • Study of new mutations in the genes responsible for thalassaemia.
  • Study of the genetic load in clusters, in order to understand the mechanism responsible for certain thalassaemias.
  • Study of point mutations (sequencing) in globin genes in diabetic patients with abnormal HPLC.

Other members of the group