Algorithmic evaluation of hereditary erythrocytosis: Pathways and caveats

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Multiple algorithms have been published for the evaluation of hereditary erythrocytosis (HE). Typical entry points begin after excluding the more common acquired conditions through investigations of clinical history and assessment of cardiac, pulmonary, or vascular system disorders. Prior exclusion of JAK2 mutations, particularly the common JAK2 V617F mutation, is indicated in adults but less so in pediatric populations. Key decision trees are based on serum erythropoietin levels and p50 results. Recent data reveal some overlap in clinical presentation and laboratory findings in erythrocytosis. Caveats to consider when using algorithmic approaches are discussed.

Original languageEnglish (US)
Pages (from-to)89-94
Number of pages6
JournalInternational Journal of Laboratory Hematology
Volume41
Issue numberS1
DOIs
StatePublished - May 1 2019

Fingerprint

Pediatrics
Erythropoietin
Decision trees
Decision Trees
Polycythemia
Mutation
Blood Vessels
Lung
Serum
Population
Primary familial and congenital Polycythemia

Keywords

  • BPGM
  • congenital polycythemia
  • EPOR
  • HIF2 (EPAS1)
  • oxygen affinity Hb variant
  • PHD2 (EGLN1)
  • VHL

ASJC Scopus subject areas

  • Hematology
  • Clinical Biochemistry
  • Biochemistry, medical

Cite this

Algorithmic evaluation of hereditary erythrocytosis : Pathways and caveats. / Oliveira, Jennifer.

In: International Journal of Laboratory Hematology, Vol. 41, No. S1, 01.05.2019, p. 89-94.

Research output: Contribution to journalArticle

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