Congenital erythrocytosis - discover of a new mutation in the EGLN1 gene

Clin Case Rep. 2018 Apr 21;6(6):1109-1111. doi: 10.1002/ccr3.1499. eCollection 2018 Jun.

Abstract

Congenital erythrocytosis is a hereditary disorder due to an increase in red cell mass that can be caused by mutations in proteins involved in HIF-α pathway, as PHD2. Hereby, we describe a new familial mutation in PHD2 gene. Considering an increased thrombotic potential, patients began antiplatelet aggregation therapy and phlebotomies.

Keywords: Congenital erythrocytosis; hypoxia; phd2; thrombosis.

Publication types

  • Case Reports