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 language | English (US) |
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Pages (from-to) | 89-94 |
Number of pages | 6 |
Journal | International Journal of Laboratory Hematology |
Volume | 41 |
Issue number | S1 |
DOIs | |
State | Published - May 2019 |
Keywords
- BPGM
- EPOR
- HIF2 (EPAS1)
- PHD2 (EGLN1)
- VHL
- congenital polycythemia
- oxygen affinity Hb variant
ASJC Scopus subject areas
- Hematology
- Clinical Biochemistry
- Biochemistry, medical