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Article

Hereditary gene mutations in Korean patients with isolated erythrocytosis.

Annals of hematology - 1 Jun 2014

Jang Ja-Hyun, Seo Ja Young, Jang Junho, Jung Chul Won, Lee Ki-O, Kim Sun-Hee, Kim Hee-Jin

Abstract excerpt

Most cases of erythrocytosis occur secondary to chronic tissue hypoxia or as a clonal disease such as polycythemia vera with somatic mutations in the Janus kinase 2 (JAK2) gene. Rarely, erythrocytosis is caused by hereditary gene mutations. This study investigated hereditary gene mutations in 38 unrelated Korean patients with isolated erythrocytosis without (1) JAK2 mutation and (2) secondary causes of...

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Source

Identifiers

PMID: 24482100
DOI: 10.1007/s00277-014-2006-3

Genes

EPOR
HBB
EGLN1
EPAS1
HBA2
JAK2
VHL

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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