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 (http://portal.ithanet.eu/) in collaboration with colleagues in the Cyprus Institute of Neurology and Genetics, Nicosia.

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Last updated 23 Feb 2017.