Coexistence of Beta Thalassemia Trait and Polycythemia: Hematological Insights, Diagnostic Challenges, and Clinical Implications

Abdurrehman; Sadiq Noor Khan; Rizwan Ullah; Khalid Nawaz; Muhammad Numan Saleem; Awal Mir

doi:10.61919/61jewz16

Authors

Abdurrehman Department of Medical Laboratory Technology, Institute of Allied Health Sciences, Khyber Medical University, Peshawar, Pakistan Author
Sadiq Noor Khan Department of Medical Lab Technology, University of Haripur, Haripur, Pakistan Author
Rizwan Ullah Department of Radiology Technology, Institute of Allied Health Sciences, Khyber Medical University, Peshawar, Pakistan Author
Khalid Nawaz Department of Molecular and Cell Biology, School of Medicine and Life Sciences, Far Eastern Federal University, Vladivostok, Russia Author
Muhammad Numan Saleem Internal Medicine, Hayatabad Medical Complex, Peshawar Pakistan Author
Awal Mir Lecturer Medical Laboratory Technology, Department of Medical Laboratory Technology, Institute of Allied Health Sciences, Khyber Medical University, Peshawar, Pakistan Author

DOI:

https://doi.org/10.61919/61jewz16

Keywords:

Beta-thalassemia trait; polycythemia; hematocrit; hemoglobin; erythropoietin; JAK2.

Abstract

Background: The coexistence of beta-thalassemia trait (BTT) and polycythemia complicates diagnosis by lowering hemoglobin (Hb) below WHO thresholds for polycythemia vera (PV), potentially masking both disorders. Objective: To determine the frequency of beta-thalassemia trait among patients with polycythemia and evaluate whether hematocrit remains useful for recognizing masked polycythemia. Methods: This descriptive cross-sectional study was conducted at Rehman Medical Institute and the University of Haripur, Pakistan, from December 2023 to December 2024. A total of 2,000 individuals underwent screening using complete blood count, hemoglobin electrophoresis, JAK2 mutation analysis, and serum erythropoietin measurement. Relative, post-treatment, and transformed polycythemia cases were excluded. Results: Polycythemia was identified in 120 individuals, including 100 males and 20 females, with a mean age of 41.8 ± 12.3 years. Primary polycythemia was present in 20 cases and secondary polycythemia in 100 cases. Beta-thalassemia trait coexisted in 15 patients, including 5 primary and 10 secondary polycythemia cases. Coincident cases showed lower hemoglobin values of 16.2–16.4 g/dL but elevated hematocrit values of 58.1–58.5%, with microcytosis, increased red cell distribution width, and elevated HbA2. Erythropoietin remained low in primary and high in secondary polycythemia. Conclusion: Beta-thalassemia trait may mask hemoglobin-based recognition of polycythemia, while hematocrit remains elevated and clinically useful for screening. Integrated interpretation of CBC indices, HbA2, EPO, and JAK2 testing is recommended

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