1.
Clin Case Rep
; 6(6): 1109-1111, 2018 Jun.
Article
in English
| MEDLINE
| ID: mdl-29881576
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.