• Although mutations in the CALR and TET2 genes have been found in people with essential thrombocythemia , it is unclear how these gene mutations are involved in development of the condition. (nih.gov)
  • Rotunno G, Mannarelli C, Guglielmelli P, Pacilli A, Pancrazzi A, Pieri L, Fanelli T, Bosi A, Vannucchi AM, Associazione Italiana per la Ricerca sul Cancro Gruppo Italiano Malattie Mieloproliferative I (2014) Impact of calreticulin mutations on clinical and hematological phenotype and outcome in essential thrombocythemia. (springer.com)
  • Some people with essential thrombocythemia have episodes of severe pain, redness, and swelling ( erythromelalgia ), which commonly occur in the hands and feet. (nih.gov)
  • Less commonly, essential thrombocythemia is inherited in an autosomal dominant pattern , which means one copy of the altered gene in each cell is sufficient to cause the disorder. (nih.gov)