Ontology highlight
ABSTRACT: Background
Bolivian Andean Aymara highlanders, living at 4,000 m for 14,000 years, have evolved genetic adaptations to hypoxia. These include EGLN1 encoding prolyl hydroxylase 2 (PHD2), a regulator of transferrin transcription. Transferrin level increases in hypoxia and iron deficiency. Contrasting reports indicate that elevated transferrin is associated with experimentally induced thrombosis in mice undergoing short-stay at high altitude, but with decreased thrombosis in a congenital disorder of hypoxia-sensing.Methods
A retrospective study was conducted in people living at high altitude (3,650 - 4,150 m). We analyzed serum transferrin concentration and thrombosis history in Aymara patients with high-altitude erythrocytosis (n = 149, median age 55 years, female gend
SUBMITTER: Amaru R
PROVIDER: S-EPMC11809596 | biostudies-literature | 2025 Feb
REPOSITORIES: biostudies-literature