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Updated: Dec 28, 2025

Author Spotlight: Developing a Point-of-Care Hemoglobin Estimation Method for Anemia Management
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Diagnostic difficulties in pernicious anemia.

Thein Hlaing Oo1

  • 1Section of Thrombosis and Benign Hematology, The University of Texas M.D. Anderson Cancer Center, Houston, Texas 77030, USA.

Discovery Medicine
|February 14, 2020
PubMed
Summary

Pernicious anemia (PA), a common cause of cobalamin deficiency, presents diagnostic challenges due to varied symptoms and test limitations. Early diagnosis is crucial to prevent irreversible neurological and hematological damage.

Area of Science:

  • Hematology
  • Immunology
  • Gastroenterology

Background:

  • Pernicious anemia (PA) is the most common cause of cobalamin deficiency (CD) globally.
  • It's an autoimmune disease linked to chronic atrophic gastritis and intrinsic factor antibodies, impairing cobalamin absorption.
  • Untreated PA-related CD can result in severe, irreversible hematological and neurological damage.

Purpose of the Study:

  • To provide an overview of the diagnostic difficulties associated with pernicious anemia.
  • To highlight challenges arising from diverse clinical presentations and coexisting conditions.
  • To discuss limitations of current diagnostic tests for PA.

Main Methods:

  • Review of diagnostic challenges in pernicious anemia.
  • Analysis of morphological mimics and confounding factors in diagnosis.

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  • Evaluation of limitations in laboratory testing for cobalamin deficiency.

    • Main Results:

    • Diagnosing PA can be difficult due to varied presentations and coexisting diseases.
    • Normal or high serum cobalamin levels can mask PA.
    • Bone marrow findings and other conditions like iron deficiency can complicate diagnosis.

    Conclusions:

    • Despite available treatments, diagnosing PA remains challenging.
    • Limitations in diagnostic tests necessitate careful clinical evaluation.
    • Strategies for diagnosing PA in the context of imperfect laboratory tests are discussed.