Benign familial microcytic thrombocytosis with autosomal dominant transmission.
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.
Cohen
N
N
Department of Medicine F, Assaf Harofeh Medical Center, Zerifin, Israel.
Almoznino-Sarafian
D
D
Weissgarten
J
J
Alon
I
I
Zaidenstein
R
R
Dishi
V
V
Rahimi-Levene
N
N
Fried
K
K
Modai
D
D
Golik
A
A
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*