Mutation of the von Hippel-Lindau (VHL) tumor suppressor protein at codon 200 (R200W) is associated with a disease known as Chuvash polycythemia. In addition to polycythemia, Chuvash patients have pulmonary hypertension and increased respiratory rates, although the pathophysiological basis of these symptoms is unclear. Here we sought to address this issue by studying mice homozygous for the R20...

The R200W mutation in the von Hippel-Lindau (VHL) tumor suppressor protein (pVHL) is unique in that it is not associated with tumor development, but rather with Chuvash polycythemia, a heritable disease characterized by elevated hematocrit and increased serum levels of erythropoietin and VEGF. Previous studies have implicated hypoxia-inducible factor-1alpha (HIF-1alpha) signaling in this disord...

Leukocytes isolated from patients with polycythemia vera (PCV), a panmyelopathy, have increased metabolic activity during the resting and phagocytizing states. Phagocytes from patients with PCV were studied by counting particle ingestion, measuring hexose monophosphate shunt (HMP) activity by the conversion of glucose1-’4C tr, ‘4CO2, and determining 02 consumption and nitroblue tetrazolium (NBT...

INTRODUCTION: Cerebral venous thrombosis is a rare initial presentation of polycythemia. If diagnosed early, treatment can reduce mortality and morbidity significantly. Often it may present with headache as the only complaint, and thus the diagnosis is likely to be missed. CASE PRESENTATION: A medically stable 31-year-old male, a chronic smoker with a ∼17 pack-year history of smoking, was admit...

The R200W mutation in the von Hippel–Lindau (VHL) tumor suppressor protein (pVHL) is unique in that it is not associated with tumor development, but rather with Chuvash polycythemia, a heritable disease characterized by elevated hematocrit and increased serum levels of erythropoietin and VEGF. Previous studies have implicated hypoxia-inducible factor–1α (HIF-1α) signaling in this disorder, alth...

BACKGROUND The myeloproliferative disorders are clonal disorders with frequent somatic gain-of-function alterations affecting tyrosine kinases. In these diseases, there is an increase in DNA damage and a risk of progression to acute leukemia. The molecular mechanisms in myeloproliferative disorders that prevent apoptosis induced by damaged DNA are obscure. METHODS We searched for abnormalitie...

Up to 20% of patients with polycythemia vera have karyotypic abnormalities at the time of the initial diagnosis. However, the cytogenetic abnormalities in polycythemia vera have not been well characterized and their prognostic impact is largely unknown. In this study, we aimed to address these issues using a large cohort of polycythemia vera patients with cytogenetic information available. The ...

Recently, a new syndrome of paraganglioma, somatostatinoma, and polycythemia has been discovered (known as Pacak-Zhuang syndrome). This new syndrome, with somatic HIF2A gain-of-function mutations, has never been reported in male patients. We describe a male patient with Pacak-Zhuang syndrome who carries a newly discovered HIF2A mutation. Congenital polycythemias have diverse etiologies, includi...

Since the demonstration by Waltner and Waltner (1) that cobalt will produce a polycythemia in rats, this effect has been produced in various other laboratory animals and human beings. However, the mechanism by which cobalt produces erythroid hyperplasia of the bone marrow remains obscure. This unique action of cobalt continues to be of interest because of its importance in leading to a better u...

To characterize the biological changes which result in increased granulocyte alkaline p-nitrophenyl phosphatase activity in patients with polycythemia vera, the enzyme was purified from granule fractions of sucrose homogenates made from dextran-sedimented leukocytes of normal subjects and patients with polycythemia vera. Polycythemic blood yielded 3-10 times as much granulocyte alkaline phospha...