Hematology
格拉斯曼血小板无力症
Glanzmann thrombastheniaA rare autosomal recessive bleeding disorder characterized by the absence or dysfunction of the platelet integrin αIIbβ3 (GPIIb/IIIa), leading to defective platelet aggregation and impaired primary hemostasis. / 一种罕见的常染色体隐性出血性疾病，其特征是血小板整合素αIIbβ3（GPIIb/IIIa）的缺失或功能障碍，导致血小板聚集受损和原发性止血缺陷。
- Knowledge type
- 自然理论
- First proposed or discovered
- Proposer
- Turkey Farm member
- Creator
- 农场主
- Last updated
- 2026-10-28 21:01:45
Sub-knowledge points
Congenital platelet disordersPrimary hemostatic defectsClinical exome sequencingRasGRP2 gene variant
Higher-order knowledge points
HemostasisPlatelet biologyGenetic testing in hematology
Main parameters and performance indicators
Integrin αIIbβ3 (GPIIb/IIIa): Absent or dysfunctionalPlatelet aggregation: ImpairedPFA-100: ImpairedPT and aPTT: Normal
Open problems
Definitive differential diagnosis without aggregation testsGenetic heterogeneity and variant interpretation
Related literature
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Creation and modification trail
1 recordsRecord title: Glanzmann thrombasthenia.
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