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Familial thrombocytosis

M Kikuchi¹, T Tayama, H Hayakawa

¹Department of Paediatrics, Hitachi General Hospital, Ibaraki, Japan.

British Journal of Haematology

|April 1, 1995

Summary

This study describes four cases of familial thrombocytosis, a condition of high platelet counts, across three generations. The findings suggest an autosomal dominant inheritance pattern for this blood disorder.

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Area of Science:

Hematology
Genetics
Oncology

Background:

Thrombocytosis, characterized by elevated peripheral platelet counts, can be essential or secondary.
Familial cases suggest a potential genetic predisposition.
The proband presented with cutaneous malignant lymphoma, prompting investigation into incidental findings.

Observation:

Four individuals across three generations exhibited high peripheral platelet counts.
Bone marrow examination revealed megakaryocytic hyperplasia, indicating increased platelet production.
Genetic analysis excluded the Philadelphia chromosome and bcr/abl fusion gene, common in other myeloid disorders.

Findings:

The thrombocytosis in this family appears to be inherited.
An autosomal dominant mode of inheritance is proposed based on the familial pattern.
The condition is distinct from Philadelphia chromosome-positive myeloproliferative neoplasms.

Implications:

This research highlights a potential new genetic cause of familial thrombocytosis.
Understanding the genetic basis can aid in diagnosis and genetic counseling for affected families.
Further research is warranted to identify the specific gene(s) responsible for this inherited thrombocytosis.

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