Red Cells

Current red cell research activities

• Characterisation of novel thalassaemia and abnormal haemoglobin mutations in the UK population. We are currently focusing on delta globin gene mutations and normal HbA2 beta thalassaemia.
• Development of new methodologies for prenatal diagnosis of haemoglobinopathies by fetal DNA analysis. We are currently focussing on the utilisation of pyrosequencing for globin gene mutation diagnosis.
• Investigation of techniques for the non-invasive prenatal diagnosis of haemoglobinopathies by analysis of cell free fetal DNA. This work is being done in collaboration with the RAPID research programme (principal investigator - Professor Lyn Chitty).
• Investigation of the causes of increased fetal haemoglobin production in adults. This project involves the characterisation of gamma globin gene mutations and other un-linked genetic factors associated with elevated fetal haemoglobin levels, determining the spectrum and gene frequency of these mutations in the UK population, and studying population variations in globin gene switching.
• Development of the Ithanet Portal, an electronic resource for the international thalassaemia community (www.ithanet.eu) in collaboration with colleagues in the Cyprus Institute of Neurology and Genetics, Nicosia.