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Article

Evaluation of "increased" hemoglobin in the JAK2 mutations era: a diagnostic algorithm based on genetic tests.

Mayo Clinic proceedings - 1 May 2007

Tefferi Ayalew, Pardanani Animesh

Abstract excerpt

Recent discoveries in the molecular pathogenesis of both polycythemia vera (PV) and congenital polycythemia (CP) underline the prospect of a genetic diagnosis in these disorders. At the forefront are the mutually exclusive exon 14 (JAK2V617F) and exon 12 JAK2 mutations that are almost always present in PV but not in polycythemias of other causes. Similarly, the molecular basis of CP is being unraveled, and...

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Source

Identifiers

PMID: 17493421
DOI: 10.4065/82.5.599

Genes

JAK2
EPOR
VHL

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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