Benign familial microcytic thrombocytosis with autosomal dominant transmission

Clin Genet. 1997 Jul;52(1):47-50. doi: 10.1111/j.1399-0004.1997.tb02513.x.

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.

MeSH terms

  • Adolescent
  • Adult
  • Blood Platelets / pathology*
  • Child
  • Female
  • Genes, Dominant / genetics
  • Humans
  • India
  • Jews
  • Male
  • Pedigree
  • Thrombocytosis / blood*
  • Thrombocytosis / genetics*