Open AccessFamilial essential thrombocythemia: 6 cases from a mono‐institutional series
Author(s) -
Accurso Vincenzo,
Santoro Marco,
Mancuso Salvatrice,
Vajana Giorgia,
Tomasello Riccardo,
Rotolo Cristina,
Camarda Giulia,
Mattana Marta,
Siragusa Sergio
Publication year - 2022
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.5525
Subject(s) - essential thrombocythemia , medicine , presentation (obstetrics) , thrombocytosis , anagrelide , pediatrics , polycythemia vera , dermatology , surgery , platelet
Rarely essential thrombocythemia (ET) is diagnosed in more than one person within a family. Familial myeloproliferative neoplasms are underdiagnosed. In this report, we describe 6 couples of familial ET, evaluating the heterogeneity of the mutational state and the clinical presentation.