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[Upshaw-Schulman syndrome]

H Saitoh1

  • 1Saitoh Hospital, Shimane Prefecture.

Nihon Rinsho. Japanese Journal of Clinical Medicine
|January 1, 1993
PubMed
Summary
This summary is machine-generated.

Upshaw-Schulman syndrome is a rare genetic disorder causing low platelets and red blood cell destruction. Patients improve with normal plasma transfusions, suggesting a missing, genetically determined plasma factor.

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Area of Science:

  • Hematology
  • Genetics
  • Rare Diseases

Background:

  • Upshaw-Schulman syndrome is a rare congenital disorder.
  • It is characterized by thrombocytopenia and microangiopathic hemolytic anemia.

Observation:

  • The condition can be temporarily corrected by transfusions of normal donor plasma.
  • This suggests the presence of a crucial, yet unidentified, plasma factor.

Findings:

  • Patients with Upshaw-Schulman syndrome appear to lack a specific, genetically determined plasma factor.
  • The exact nature and function of this missing factor are currently unknown.

Implications:

  • Identifying this plasma factor is crucial for understanding the pathogenesis of Upshaw-Schulman syndrome.
  • This knowledge could lead to targeted therapies beyond plasma transfusions for this rare genetic disorder.