title: Benign familial microcytic thrombocytosis with autosomal dominant transmission.
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.
authors.affiliation: Department of Medicine F, Assaf Harofeh Medical Center, Zerifin, Israel.
authors.forename: N
authors.initials: N
authors.lastname: Cohen
authors.forename: D
authors.initials: D
authors.lastname: Almoznino-Sarafian
authors.forename: J
authors.initials: J
authors.lastname: Weissgarten
authors.forename: I
authors.initials: I
authors.lastname: Alon
authors.forename: R
authors.initials: R
authors.lastname: Zaidenstein
authors.forename: V
authors.initials: V
authors.lastname: Dishi
authors.forename: N
authors.initials: N
authors.lastname: Rahimi-Levene
authors.forename: K
authors.initials: K
authors.lastname: Fried
authors.forename: D
authors.initials: D
authors.lastname: Modai
authors.forename: A
authors.initials: A
authors.lastname: Golik
mesh_terms: D000293:Adolescent; D000328:Adult; D001792:Blood Platelets / Q000473:pathology*; D002648:Child; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D007194:India; D007585:Jews; D008297:Male; D010375:Pedigree; D013922:Thrombocytosis / Q000097:blood* / Q000235:genetics*