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Genetic and Rare Diseases Information Center (GARD)

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Polycythemia vera

Other Names for this Disease
  • Polycythemia rubra vera
  • Primary polycythemia
  • PRV
  • PV
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Your Question

I was diagnosed with polycythemia vera 20 years ago, and I am JAK2 positive. My brother recently learned that his red blood cell count is very high and will now be seeing a hematologist. Is it strange that my brother may have the same condition, even though it is so rare? I researched a polycythemia vera cluster that occurred in several counties and learned that my brother and I had lived in one of them. Has anyone else researched this issue?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Is polycythemia vera inherited?

Most cases of polycythemia vera (PCV) are not inherited from a parent and are acquired during a person's lifetime. The condition is associated with genetic changes (mutations) that are somatic, which means they occur in cells of the body but not in egg and sperm cells.

In rare cases, the risk to develop PCV runs in families and sometimes appears to have an autosomal dominant pattern of inheritance. This means that only one altered copy of a gene in each cell is enough to give a person an increased risk for PCV. In other words, while an increased risk to develop PCV may be inherited, the condition itself is not inherited.[1]

Last updated: 3/17/2014

Has anyone researched the polycythemia cluster that was identified in Pennsylvania?

There have been a couple of published reports about the polycythemia vera (PV) cluster in Pennsylvania. One study, published in 2009, discussed a cluster of patients with PV that was suspected in three countries in eastern Pennsylvania, where there have been concerns about environment hazards. They stated that their findings indicate that a geographic cluster of PV did occur within the three counties, and that the close proximity of this cluster to known areas of hazardous material exposure may raise concern that environmental factors might play a role in developing PV. The authors do discuss how the reasons for the cluster are unknown, but further investigations are planned to confirm their findings. Development of PV has not been previously associated with exposure to any particular substance, and this study was not designed to examine the relationship between PV and specific exposures. The authors state that additional research is necessary.[2] This article can be viewed for free online by clicking here.

Another report, published in 2010, discusses how a multidisciplinary group of federal and state agencies, academic institutions, and local healthcare providers developed a research plan designed to better understand the cause of the PV cluster in Pennsylvania. The authors believe their investigation is unique because it has the support of both federal and state public health agencies. They acknowledge that the PV cluster requires assessment of many potential environmental influences such as hazardous waste sites, industrial emissions and waste, and naturally-occurring radiation sources – in addition to possible inherited genetic risk factors.[3] This article can be viewed online for free by clicking here.

The U.S. National Institutes of Health, through the National Library of Medicine, developed to provide patients, family members, and members of the public with current information on clinical research studies. Currently, 1 clinical trial is identified as enrolling individuals with familial myeloproliferative disorder (individuals who may have a genetic susceptibility), including polycythemia vera, to determine more about susceptibility. To see information about this trial, click here. This site can be checked often for regular updates; to see current clinical trials being conducted, "polycythemia vera" should be entered as the search term.
Last updated: 12/21/2010