Benign familial microcytic thrombocytosis with autosomal dominant transmission

Natan Cohen, Dorit Almoznino-Sarafian, Joshua Weissgarten, Irena Alon, Ronit Zaidenstein, Victor Dishi, Naomi Rahimi-Levene, Kalman Fried, David Modai, Ahuva Golik

Research output: Contribution to journalArticlepeer-review

Abstract

Familial thrombocytosis is an extremely rare disorder, so far reported in only a handful of families. In the majority of cases the characteristics were of essential thrombocythemia. Most patients presented with a platelet count above 800,000/mm3, were diagnosed as having a myeloproliferative disease, and some required chemotherapy. We describe a benign form of familial thrombocytosis with autosomal dominant inheritance in five healthy members of three generations of a family, all of whom had moderate thrombocytosis within the range 422,000-662,000/mm3, characterized by low mean platelet volume. A careful medical history and a 5-year follow up of the subjects did not reveal any untoward clinical development. This variant of familial thrombocytosis is therefore of a benign nature. Possible mechanisms linking thrombocytosis with platelet microcytosis in this family are discussed.

Original languageEnglish
Pages (from-to)47-50
Number of pages4
JournalClinical Genetics
Volume52
Issue number1
DOIs
StatePublished - 1997

Keywords

  • Familiar thrombocytosis
  • Low mean platelet volume
  • Microcytic thrombocytosis
  • Small platelets

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