Prospective study of thrombosis and thrombospondin-1 expression in Chuvash polycythemia

Sergueeva, Adelina; Miasnikova, Galina Y.; Shah, Binal N.; Song, Jihyun; Lisina, Ekaterina; Okhotin, Daniel J.; Nouraie, Mehdi; Nekhai, Sergeï; Ammosova, Tatiana; Niu, Xiao Mei; Prchal, Josef T.; Zhang, Xu

doi:10.3324/haematol.2016.158170

Cited by 16 publications

(31 citation statements)

References 12 publications

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“…One hundred and twenty‐eight patients and 128 controls from Chuvash Republic in Russia were enrolled from 2005 to 2009 and were followed up in 2015‐2016. The study, with a median follow‐up of 8.8 years, revealed a 9.6 times increase in the rate of development of new thrombosis in the patients vis‐à‐vis controls …”

Section: Discussionmentioning

confidence: 94%

Genetic basis of unexplained erythrocytosis in Indian patients

Mallik

Sharma

Hira

et al. 2019

European J of Haematology

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Objective To evaluate the spectrum of genetic defects in Indian patients with unexplained erythrocytosis. Methods Fifteen families (18 patients) with unexplained erythrocytosis were enrolled after excluding polycythemia vera and secondary erythrocytosis. Focused Sanger sequencing from genomic DNA was performed for EPOR (exon 8), VHL (exons 2‐3), EGLN1 (exons 2‐5), EPAS1 (exon 12), and all exons of HBB, HBA1, and HBA2 genes. Results Eleven of the 18 patients (including two pairs of brothers) had Chuvash polycythemia, that is, homozygosity for VHL:c.598C > T (p.Arg200Trp). Three patients (two of whom were brothers) had HBB mutations associated with increased oxygen‐affinity hemoglobin—one had a heterozygous Hb McKees Rocks HBB:c.438T > A (p.Tyr146*), and two brothers showed heterozygous Hb Rainier HBB:c.437A > G (p.Tyr146Cys). No pathogenic variants were found in the remaining four cases. Conclusion A gene‐by‐gene Sanger sequencing approach could determine a genetic basis for erythrocytosis in 11 of the 15 (73%) Indian families, with homozygous VHL:c.598C > T (p.Arg200Trp) being the commonest pathogenic variant. This first study from the Indian subcontinent provides a rationale for analyzing this variant in patients with suspected congenital erythrocytosis from this region. Rare first occurrences of Hb McKees Rocks and Hb Rainier in Indians are also being reported.

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Section: Discussionmentioning

confidence: 94%

Genetic basis of unexplained erythrocytosis in Indian patients

Mallik

Sharma

Hira

et al. 2019

European J of Haematology

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“…These conditions are rare and clinical events and outcomes are poorly described. In Chuvash polycythaemia, where affected individuals have a homozygous mutation in the VHL gene increased thrombotic complications have been reported (Sergueeva et al , ). Major thrombotic events have also been reported to occur in young individuals with other types of congenital erythrocytosis (Bento et al , ).…”

Section: Management Of Secondary Erythrocytosismentioning

confidence: 99%

A guideline for the management of specific situations in polycythaemia vera and secondary erythrocytosis

et al. 2018

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“…The propensity to thrombosis is even higher in CE than in PV. 48 Although endemic in Chuvashia and Ischia, CE is distributed worldwide. 8,9,49 This form of erythrocytosis is characterized by a high risk of both arterial and venous thrombosis in subjects living near sea level.…”

Section: Chuvash Erythrocytosis and Polycythemia Vera Share Thrombosimentioning

confidence: 99%

“…Thrombosis largely accounts for the morbidity and mortality of CE although affected individuals have lower body mass index, systolic blood pressure, glucose and HbA1c levels, and white blood cell and platelet counts compared to controls. 48,52,53 The high rate of thrombosis in CE begins in childhood 51 and increases with age. 48 However, higher hematocrit is not an independent predictor of thrombotic risk in either children or adults.…”

Section: Chuvash Erythrocytosis and Polycythemia Vera Share Thrombosimentioning

confidence: 99%

“…48,52,53 The high rate of thrombosis in CE begins in childhood 51 and increases with age. 48 However, higher hematocrit is not an independent predictor of thrombotic risk in either children or adults. 48,51 Furthermore, a history of therapeutic phlebotomy in CE is associated with an increased risk of thrombosis.…”

Section: Chuvash Erythrocytosis and Polycythemia Vera Share Thrombosimentioning

confidence: 99%

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Re-evaluation of hematocrit as a determinant of thrombotic risk in erythrocytosis

2019

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H ere we critically evaluate the role of elevated hematocrit as the principal determinant of thrombotic risk in polycythemia and erythrocytosis, defined by an expansion of red cell mass. Since red cell volume determination is no longer readily available, in clinical practice, polycythemia and erythrocytosis are defined by elevated hemoglobin and hematocrit. Thrombosis is common in Chuvash erythrocytosis and polycythemia vera. Although the increased thrombotic risk is assumed to be due to the elevated hematocrit and an associated increase in blood viscosity, thrombosis does not accompany most types of erythrocytosis. We review studies indicating that the occurrence of thrombosis in Chuvash erythrocytosis is independent of hematocrit, that the thrombotic risk is paradoxically increased by phlebotomy in Chuvash erythrocytosis, and that, when compared to chemotherapy, phlebotomy is associated with increased thrombotic risk in polycythemia vera. Inherited and environmental causes that lead to polycythemia and erythrocytosis are accompanied by diverse cellular changes that could directly affect thrombotic risk, irrespective of the elevated hematocrit. The pressing issue in these disorders is to define factors other than elevated hematocrit that determine thrombotic risk. Defining these predisposing factors in polycythemia and erythrocytosis should then lead to rational therapies and facilitate development of targeted interventions.

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Prospective study of thrombosis and thrombospondin-1 expression in Chuvash polycythemia

Cited by 16 publications

References 12 publications

Genetic basis of unexplained erythrocytosis in Indian patients

Genetic basis of unexplained erythrocytosis in Indian patients

A guideline for the management of specific situations in polycythaemia vera and secondary erythrocytosis

Re-evaluation of hematocrit as a determinant of thrombotic risk in erythrocytosis

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