What question did this study set out to answer?

The aim is to highlight how severe vitamin B12 deficiency can obscure the diagnosis of underlying myeloproliferative neoplasms and other hematological disorders.

April 17, 2026Case Reports in HematologyOpen Access

Pernicious Anemia Resulting in Intramedullary Hemolysis, Masking Underlying Polycythemia Vera and Mild Alpha‐Thalassemia—A Case Report

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Authors

ARAmanda Rohner ASAnnatina Sarah Schnegg-Kaufmann YBYara Banz

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Overview

Case report uncovers how vitamin B12 deficiency masks polycythemia vera and alpha-thalassemia in a patient, suggesting careful monitoring is crucial.

Key Points

The aim is to highlight how severe vitamin B12 deficiency can obscure the diagnosis of underlying myeloproliferative neoplasms and other hematological disorders.
Examined a 48-year-old woman with pancytopenia and macrocytic anemia.
Conducted laboratory tests, gastroscopy, and antibody testing for autoimmune gastritis.
Performed bone marrow biopsy to assess cellularity and presence of myelofibrosis.
Assessed molecular analysis for the presence of JAK2 V617F mutation.
Initial diagnosis revealed severe vitamin B12 deficiency and autoimmune atrophic gastritis.
Post-vitamin B12 supplementation led to resolution of cytopenias, but follow-up showed polycythemia and other hematological abnormalities.
Molecular analysis confirmed the presence of a JAK2 mutation, indicating polycythemia vera.
Mild alpha-thalassemia was also diagnosed during evaluation of blood counts.

Cite This Study

Rohner et al. (2026) studied this question.

synapsesocial.com/papers/69e1cefb5cdc762e9d857df7 https://doi.org/10.1155/crh/8353795

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April 17, 2026Case Reports in HematologyOpen Access

Pernicious Anemia Resulting in Intramedullary Hemolysis, Masking Underlying Polycythemia Vera and Mild Alpha‐Thalassemia—A Case Report

View Full Paper

Ask AI

Bookmark

Authors

ARAmanda Rohner ASAnnatina Sarah Schnegg-Kaufmann YBYara Banz

Discussion

Member takes

Overview

Case report uncovers how vitamin B12 deficiency masks polycythemia vera and alpha-thalassemia in a patient, suggesting careful monitoring is crucial.

Key Points

The aim is to highlight how severe vitamin B12 deficiency can obscure the diagnosis of underlying myeloproliferative neoplasms and other hematological disorders.
Examined a 48-year-old woman with pancytopenia and macrocytic anemia.
Conducted laboratory tests, gastroscopy, and antibody testing for autoimmune gastritis.
Performed bone marrow biopsy to assess cellularity and presence of myelofibrosis.
Assessed molecular analysis for the presence of JAK2 V617F mutation.
Initial diagnosis revealed severe vitamin B12 deficiency and autoimmune atrophic gastritis.
Post-vitamin B12 supplementation led to resolution of cytopenias, but follow-up showed polycythemia and other hematological abnormalities.
Molecular analysis confirmed the presence of a JAK2 mutation, indicating polycythemia vera.
Mild alpha-thalassemia was also diagnosed during evaluation of blood counts.

Cite This Study

Rohner et al. (2026) studied this question.

synapsesocial.com/papers/69e1cefb5cdc762e9d857df7 https://doi.org/10.1155/crh/8353795

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