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

פרסום מחקרי: פרסום בכתב עתמאמרביקורת עמיתים

12 ציטוטים ‏(Scopus)

תקציר

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.

שפה מקוריתאנגלית
עמודים (מ-עד)47-50
מספר עמודים4
כתב עתClinical Genetics
כרך52
מספר גיליון1
מזהי עצם דיגיטלי (DOIs)
סטטוס פרסוםפורסם - 1997
פורסם באופן חיצוניכן

טביעת אצבע

להלן מוצגים תחומי המחקר של הפרסום 'Benign familial microcytic thrombocytosis with autosomal dominant transmission'. יחד הם יוצרים טביעת אצבע ייחודית.

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