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Benign familial microcytic thrombocytosis with autosomal dominant transmission
N Cohen1, D Almoznino-Sarafian, J Weissgarten
1Department of Medicine F, Assaf Harofeh Medical Center, Zerifin, Israel.
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.
Insights
A rare familial thrombocytosis variant shows autosomal dominant inheritance. This benign form presents with moderate thrombocytosis and low mean platelet volume, without adverse clinical outcomes over five years.
Area of Science:
- Hematology
- Genetics
- Internal Medicine
Background:
- Familial thrombocytosis is exceptionally rare, often resembling essential thrombocythemia.
- Most reported cases involve high platelet counts and myeloproliferative disease, sometimes requiring chemotherapy.
Purpose of the Study:
- To describe a distinct, benign form of familial thrombocytosis.
- To investigate its inheritance pattern and clinical characteristics.
Main Methods:
- Pedigree analysis across three generations.
- Hematological parameter assessment, including platelet counts and mean platelet volume.
- Clinical evaluation and 5-year follow-up of affected individuals.
Main Results:
- Autosomal dominant inheritance identified in five healthy family members.
- Moderate thrombocytosis (422,000-662,000/mm3) with low mean platelet volume observed.
- No adverse clinical developments noted during the 5-year follow-up period.
Conclusions:
- This familial thrombocytosis variant is benign.
- The findings suggest a unique genetic mechanism linking thrombocytosis and platelet microcytosis.