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Benign familial thrombocytosis.

E C Williams1, N T Shahidi

  • 1Department of Medicine, University of Wisconsin, Madison 53706.

American Journal of Hematology
|June 1, 1991
PubMed
Summary

Benign familial thrombocytosis, a rare inherited blood disorder, was identified in a family. This condition causes elevated platelet counts without other myeloproliferative disease symptoms.

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Area of Science:

  • Hematology
  • Genetics
  • Internal Medicine

Background:

  • Thrombocytosis, or elevated platelet count, can be reactive or associated with myeloproliferative neoplasms.
  • Familial thrombocytosis is a rare condition characterized by inherited high platelet counts.

Observation:

  • A 13-year-old girl presented with a platelet count exceeding 4 million/microliters during evaluation for minor bleeding.
  • Her father and two sisters also exhibited thrombocytosis.
  • All affected family members were asymptomatic and lacked other signs of myeloproliferative disorders.

Findings:

  • The family presented with benign familial thrombocytosis, characterized solely by elevated platelet counts.
  • This represents the second documented case of this specific inherited condition.

Implications:

  • This case highlights the importance of considering inherited conditions in familial thrombocytosis.
  • Further research into the genetic basis of benign familial thrombocytosis is warranted.

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