J Korean Pediatr Soc.  1999 Jan;42(1):133-137.

A Case of TypeI Glanzmann's Thrombasthenia Diagnosed by Flow Cytometry

• Lee MS
• Shin CH
• Kim KY
• Son DW
• Chung HR
• Kim DH

Abstract

Glanzmann's thrombasthenia is a rare autosomal recessive hemorrhagic disorder of platelet function with missing or abnormal platelet plasma membrane glycoprotein IIb-IIIa, which functions as a receptor for fibrinogen. We have experienced a case of thrombasthenia in a 6-year-old female whose chief complaints were easy bruising, frequent epistaxis, arthralgia and swelling of the right ankle joint. Bleeding time was prolonged in the presence of normal platelet levels and the platelet aggregation test showed lack of aggregation after exposure to ADP, epinephrine and collagen, but showed an aggregation response to ristocetin. Platelet analysis by flow cytometry is a successful alternative rapid diagnostic technique for Glanzmann's thrombasthenia patients as well as for carriers of this disease. Flow cytometry technique provides an effective tool for investigating platelet function defects caused by altered expression or deficiency of platelet surface proteins.

Keyword

Glanzmann's thrombasthenia; Flow cytometry

MeSH Terms

Adenosine Diphosphate
Ankle Joint
Arthralgia
Bleeding Time
Blood Platelets
Cell Membrane
Child
Collagen
Epinephrine
Epistaxis
Female
Fibrinogen
Flow Cytometry*
Glycoproteins
Hemorrhagic Disorders
Humans
Membrane Proteins
Platelet Aggregation
Ristocetin
Thrombasthenia*
Adenosine Diphosphate
Collagen
Epinephrine
Fibrinogen
Glycoproteins
Membrane Proteins
Ristocetin