biostudies-literatureUnknown14(1)Amaru R<h4>Background</h4>Bolivian Andean Aymara highlanders, living at 4,000 m for 14,000 years, have evolved genetic adaptations to hypoxia. These include <i>EGLN1</i> 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.<h4>Methods</h4>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 gendJournal of hematology20-25https://www.ebi.ac.uk/biostudies/studies/S-EPMC11809596biostudies-literatureIncreased Transferrin Concentrations Are Not Associated With Thrombosis in People Living at High Altitude.PMC11809596Gordeuk VRCarrasco MMancilla EPrchal JZhang XGanz TPaton DAmaru RfalseIncreased Transferrin Concentrations Are Not Associated With Thrombosis in People Living at High Altitude.<h4>Background</h4>Bolivian Andean Aymara highlanders, living at 4,000 m for 14,000 years, have evolved genetic adaptations to hypoxia. These include <i>EGLN1</i> 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.<h4>Methods</h4>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 gend2025-01-01T00:00:00Z2025 Feb2025-04-25T17:47:06.319Z2025-04-25T17:47:06.319ZS-EPMC118095963993569810.14740/jh1388