Identifying Patients with Rare Forms of Erythrocytosis

  • McMullin, Mary (Participant)
  • Terence Lappin (Participant)
  • Anne Hughes (Participant)

Impact: Health Impact, Quality of Life Impact

Narrative

Diagnostic tests have been successfully developed for identification of the cause of erythrocytosis, particularly in patients with unexplained forms of this rare disease. A diagnostic service with worldwide reach was developed for the genetic characterisation of patients that carry mutations identified by the Queens’s group. It deals with approximately 100 samples per year referred for investigation for this rare disease from the UK, Europe and further afield. Proper diagnosis helps in management of patients with erythrocytosis where the problem is not mutation in one of the familiar causative genes. A pan-European web-based database has been established to collect information on long-term outcomes to inform patient management.
Impact statusOngoing
Category of impactHealth Impact, Quality of Life Impact