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Pediatric Polycythemia Workup

  • Author: Joseph K Park, MD, PhD; Chief Editor: Max J Coppes, MD, PhD, MBA  more...
Updated: Apr 07, 2016

Laboratory Studies

The reference range values for the clinician's laboratory findings in polycythemia should be cross-correlated.

  • Red cell mass: This is less than 25% of predicted values.
  • CBC count: Leukocytosis and thrombocytosis are commonly observed but not universal in patients with polycythemia. Leukocytes are greater than 12 X 109/L; platelets are greater than 400 X 109/L. Large platelets are often observed. Platelets can be morphologically and qualitatively abnormal. Red cell mass is greater than 36 mL/kg in men and greater than 32 mL/kg in women. RBCs often have anisocytosis, basophilic stippling, and polychromatophilia.
  • Serum erythropoietin (Epo): Elevated serum Epo levels can be used to distinguish polycythemia vera (PV) from secondary polycythemia. Elevated Epo levels are observed in secondary polycythemia. Low Epo levels suggest primary familial and congenital polycythemia (PFCP) or polycythemia vera, but Epo levels may be normal.
  • Hemoglobin: Hemoglobin analysis is indicated in patients with inadequately high serum Epo levels. Oxygen dissociation curves and hemoglobin electrophoresis can be used to assess for high oxygen affinity mutants and 2,3-Bisphosphoglycerate deficiency (2,3-BPG) deficiency.
  • Serum B-12: Serum B-12 levels are greater than 900 pg/mL (reference range, 130-785 pg/mL), resulting from transcobalamin release from an increased granulocytic mass.
  • Leukocyte alkaline phosphatase: Activity is greater than 100 U/L (reference range adult levels, 30-120 U/L) because levels vary for age; check pediatric age-specific controls.
  • Uric acid: Uric acid levels are increased (reference range adult levels, 2-8 mg/dL). Because levels vary for age, check pediatric age-specific controls. The uric acid level can be within the reference range.
  • Elevated sedimentation rate
  • Spurious hyperkalemia
  • Increased blood viscosity
  • Artifactual prolongation of coagulation studies
  • Endogenous erythroid colony formation: In vitro, this is characteristic for polycythemia vera; however, its specificity and sensitivity limits its use for diagnosis.
  • Gene testing: Screen for EPOR mutation and JAK2 mutation if primary polycythemia is suspected.
  • Molecular analysis: Consider molecular analysis of the VHL gene.

Imaging Studies

See the list below:

  • Abdominal ultrasonography is indicated to exclude underlying renal and hepatic pathology.
  • CT scanning is indicated if physical examination reveals neurologic deficits.

Other Tests

See the list below:

  • The need for bone marrow biopsy is still controversial. Biopsy is not a part of the diagnostic criteria. It may be helpful when trying to differentiate polycythemia vera from other myeloproliferative disorders and to assess the degree of fibrosis.
  • Cytogenetics are not routinely performed but should be used if the diagnosis is questionable and if the differential includes malignancy, myelodysplastic syndrome, or other myeloproliferative disorders.

Histologic Findings

See the list below:

  • If a bone marrow biopsy is performed, the marrow in polycythemia vera is typically hypercellular, including all marrow elements and displaced marrow fat.
  • The number of megakaryocytes is usually increased with wide variation in size.
  • Stainable iron is decreased or absent, and, later in the disease course, fibrosis and marrow reticulin fibers are increased.[30]
Contributor Information and Disclosures

Joseph K Park, MD, PhD Paul and Yuanbi Ramsay Endowed Postdoctoral Fellow, Division of Hematology/Oncology, Lucile Packard Children's Hospital at Stanford

Disclosure: Nothing to disclose.


Kathleen M Sakamoto, MD, PhD Shelagh Galligan Professor, Division of Hematology/Oncology, Department of Pediatrics, Stanford University School of Medicine

Kathleen M Sakamoto, MD, PhD is a member of the following medical societies: International Society for Experimental Hematology, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Society for Pediatric Research

Disclosure: Nothing to disclose.

Krysta D Schlis, MD Clinical Assistant Professor of Pediatrics, Lucile Packard Children’s Hospital, Stanford University School of Medicine

Krysta D Schlis, MD is a member of the following medical societies: American Society of Hematology, American Society of Pediatric Hematology/Oncology

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

James L Harper, MD Associate Professor, Department of Pediatrics, Division of Hematology/Oncology and Bone Marrow Transplantation, Associate Chairman for Education, Department of Pediatrics, University of Nebraska Medical Center; Associate Clinical Professor, Department of Pediatrics, Creighton University School of Medicine; Director, Continuing Medical Education, Children's Memorial Hospital; Pediatric Director, Nebraska Regional Hemophilia Treatment Center

James L Harper, MD is a member of the following medical societies: American Society of Pediatric Hematology/Oncology, American Federation for Clinical Research, Council on Medical Student Education in Pediatrics, Hemophilia and Thrombosis Research Society, American Academy of Pediatrics, American Association for Cancer Research, American Society of Hematology

Disclosure: Nothing to disclose.

Chief Editor

Max J Coppes, MD, PhD, MBA Executive Vice President, Chief Medical and Academic Officer, Renown Heath

Max J Coppes, MD, PhD, MBA is a member of the following medical societies: American College of Healthcare Executives, American Society of Pediatric Hematology/Oncology, Society for Pediatric Research

Disclosure: Nothing to disclose.

Additional Contributors

Scott S MacGilvray, MD Clinical Professor, Department of Pediatrics, Division of Neonatology, The Brody School of Medicine at East Carolina University

Scott S MacGilvray, MD is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Nothing to disclose.


Kristin Baird, MD Staff Clinician, Pediatric Oncology Branch, National Cancer Institute, National Institutes of Health

Disclosure: Nothing to disclose.

Sun H Choo, MD Resident Physician, Department of Pediatrics, University of California, Los Angeles, David Geffen School of Medicine

Disclosure: Nothing to disclose.

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Bone marrow film at 400X magnification demonstrating dominance of erythropoiesis. Courtesy of U. Woermann, MD, Division of Instructional Media, Institute for Medical Education, University of Bern, Switzerland.
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