Even though most people with polycythemia vera (PV) have mutations
, that does not mean that the condition is inherited
from the parents. Instead, most cases of polycythemia vera are associated with genetic changes (mutations) that are somatic. This means that the mutations occur in the cells
that produce red blood cells
(hematopoietic stem cell
), but generally not in the egg and sperm cells which pass on genetic information to offspring.
In rare cases, the mutation to a gene
that causes PV does occur in the egg or sperm cells, which increases the risk that a person with PV will pass the mutation on to their children. In these cases, the condition appears to have an autosomal dominant
pattern of inheritance. This means that only one altered copy of a gene is enough to give a person an increased risk for PV. However, not every person who has a mutation in JAK2
will necessarily develop PV. Rather, if a person has a mutation in one of these genes, he or she has an increased risk to develop PV during his or her lifetime.
Last updated: 2/11/2017
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.
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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
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The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov
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
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