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Pernicious Anemia Resulting in Intramedullary Hemolysis, Masking Underlying Polycythemia Vera and Mild

Amanda Rohner1, Annatina Sarah Schnegg-Kaufmann2, Yara Banz3,4

  • 1Department of General Internal Medicine, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland, unibe.ch.

Case Reports in Hematology
|April 17, 2026
PubMed
Abstract

Insights

Severe vitamin B12 deficiency can mask myeloproliferative neoplasms (MPNs) and alpha-thalassemia. Prompt diagnosis and monitoring are crucial for managing these complex hematologic disorders and ensuring optimal patient outcomes.

Area of Science:

  • Hematology
  • Oncology
  • Internal Medicine

Background:

  • Vitamin B12 deficiency can cause hemolysis and cytopenias.
  • Myeloproliferative neoplasms (MPNs) may be masked by deficiencies.
  • Polycythemia vera (PV) is a type of MPN.

Purpose of the Study:

  • To present a case where vitamin B12 deficiency masked an underlying MPN.
  • To highlight the diagnostic challenges posed by coexisting hematologic disorders.
  • To emphasize the importance of follow-up after treating deficiencies.

Main Methods:

  • Case report of a 48-year-old woman with fatigue and pancytopenia.
  • Laboratory tests including vitamin B12 levels, hemolysis markers, and bone marrow biopsy.
  • Molecular analysis for JAK2 V617F mutation.
  • Diagnosis of autoimmune atrophic gastritis, pernicious anemia, PV, myelofibrosis, and alpha-thalassemia.

Main Results:

  • Initial presentation of severe vitamin B12 deficiency with anemia, hemolysis, and pancytopenia.
  • Resolution of cytopenias after vitamin B12 supplementation.
  • Subsequent development of polycythemia, leukocytosis, thrombocytosis, and myelofibrosis.
  • Confirmation of PV with JAK2 V617F mutation and progression to myelofibrosis.
  • Co-diagnosis of mild alpha-thalassemia.

Conclusions:

  • Severe vitamin B12 deficiency can mask underlying MPNs and other hematologic disorders like alpha-thalassemia.
  • Close follow-up after hematologic recovery is essential for diagnosing coexisting conditions.
  • This case illustrates complex hematologic scenarios with conflicting influences on red blood cell indices, complicating diagnosis.

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