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Updated: Nov 24, 2025

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Polycythemia Vera in a Patient With Heterozygous Beta-Thalassemia: Coincidence or Causal Relationship?

Konstantinos Kottas1, Anastasios Marathonitis1, Aikaterini Nodarou1

  • 1Internal Medicine, Sismanogleio Hospital, Athens, GRC.

Cureus
|December 28, 2020
PubMed

Polycythemia vera (PV) and heterozygous beta-thalassemia (HBT) have opposing effects on the hematocrit (Hct) and may mask the presence of each other. Missing the diagnosis of PV may have serious consequences, mainly by exposing the patient to the risk of thromboses. We present a case where the diagnosis of PV was delayed due to the coexistence of HBT, and review the relevant literature. It can be postulated that "stress erythropoiesis", known to occur in patients with thalassemic syndromes, increases the probability of somatic JAK2 mutations leading to development of PV.

Keywords:
eryhropoiesishbtheterozygous beta thalassemiamasked polycythemia verapolycythemia verapvpv + hbtstress erythropoiesisβ-thalassemia

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