Identifying Patients with Rare Forms of Erythrocytosis

McMullin, Mary Frances (Participant)
Terence Lappin (Participant)
Hughes, Anne (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 status	Ongoing
Category of impact	Health Impact, Quality of Life Impact

Identifying Patients with Rare Forms of Erythrocytosis

Narrative

Related content

Research output

Chuvash-type congenital polycythemia in 4 families of Asian and Western European ancestry.

A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove.

A gain-of-function mutation in the HIF2A gene in familial erythrocytosis

Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis.

A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis

Erythrocytosis due to a mutation in the erythropoietin receptor gene