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

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 diagn...

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Autores principales: Kottas, Konstantinos, Marathonitis, Anastasios, Nodarou, Aikaterini, Kanellis, Georgios, Christopoulos, Konstantinos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2020
Materias:
Internal Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7749832/
https://www.ncbi.nlm.nih.gov/pubmed/33364111
http://dx.doi.org/10.7759/cureus.11589
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author Kottas, Konstantinos
Marathonitis, Anastasios
Nodarou, Aikaterini
Kanellis, Georgios
Christopoulos, Konstantinos
author_facet Kottas, Konstantinos
Marathonitis, Anastasios
Nodarou, Aikaterini
Kanellis, Georgios
Christopoulos, Konstantinos
author_sort Kottas, Konstantinos
collection PubMed
description 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.
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spelling pubmed-77498322020-12-23 Polycythemia Vera in a Patient With Heterozygous Beta-Thalassemia: Coincidence or Causal Relationship? Kottas, Konstantinos Marathonitis, Anastasios Nodarou, Aikaterini Kanellis, Georgios Christopoulos, Konstantinos Cureus Internal Medicine 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. Cureus 2020-11-20 /pmc/articles/PMC7749832/ /pubmed/33364111 http://dx.doi.org/10.7759/cureus.11589 Text en Copyright © 2020, Kottas et al. http://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Internal Medicine
Kottas, Konstantinos
Marathonitis, Anastasios
Nodarou, Aikaterini
Kanellis, Georgios
Christopoulos, Konstantinos
Polycythemia Vera in a Patient With Heterozygous Beta-Thalassemia: Coincidence or Causal Relationship?
title Polycythemia Vera in a Patient With Heterozygous Beta-Thalassemia: Coincidence or Causal Relationship?
title_full Polycythemia Vera in a Patient With Heterozygous Beta-Thalassemia: Coincidence or Causal Relationship?
title_fullStr Polycythemia Vera in a Patient With Heterozygous Beta-Thalassemia: Coincidence or Causal Relationship?
title_full_unstemmed Polycythemia Vera in a Patient With Heterozygous Beta-Thalassemia: Coincidence or Causal Relationship?
title_short Polycythemia Vera in a Patient With Heterozygous Beta-Thalassemia: Coincidence or Causal Relationship?
title_sort polycythemia vera in a patient with heterozygous beta-thalassemia: coincidence or causal relationship?
topic Internal Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7749832/
https://www.ncbi.nlm.nih.gov/pubmed/33364111
http://dx.doi.org/10.7759/cureus.11589
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