Even though most people with polycythemia vera (PV) have mutations in JAK2 or TET2, 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 or TET2 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
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