Different biochemical expression pattern of platelet surface glycoproteins suggests molecular diversity of Glanzmann's thrombasthenia in Iran.

Abstract

Glanzmann's thrombasthenia is a rare congenital bleeding disorder characterized by lack of platelet aggregation induced by most agonists. The disease is caused by different mutations in either GPIIb or GPIIIa genes that lead to a lack or dysfunction of the αIIbβ3. Western blot analysis was performed on the platelet lysates of 95 patients with Glanzmann's thrombasthenia who were referred to the Iranian Blood Transfusion and Hemophilia Clinic. Glanzmann's thrombasthenia was diagnosed based on clinical findings and were classified according to Glanzmann's Thrombasthenia Italian Team (GLATIT) protocol. The platelet glycoprotein expression pattern in Iranian patients with Glanzmann's thrombasthenia was studied and the relationship between the platelet glycoprotein expression levels and clinical symptoms were investigated. Loss or severe reduction of platelet GpIIb and GpIIIa were observed in majority of patients (78%). The remaining patients (22%) showed a relatively sharp decline to the normal amounts of the glycoproteins. None of the patients showed expression of CD41 without CD61. Statistical analysis showed no significant relationship between clinical symptoms and expression of platelet glycoproteins. Different patterns of platelet glycoproteins expression suggest that there is variety of mutations in the patients. Unlike the universal Glanzmann's thrombasthenia database, the majority of Iranian patients may suffer from a GpIIIa gene mutation. This study also confirmed a lack of correlation between clinical manifestation and GPIIb/IIIa expression in the patients.

• Authors: Alireza Farsinejad, Mohammad M Farajollahi, Ahmad Kazemi, Nazanin Saemi, Mohammad Faranoush
• Journal: Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis (Blood Coagul Fibrinolysis) Vol. 24 Issue 6 Pg. 613-8 (Sep 2013) ISSN: 1473-5733 [Electronic] England
• PMID: 23912132 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Integrin beta3
• Platelet Membrane Glycoprotein IIb

Topics

• Adolescent
• Adult
• Blotting, Western
• Child
• Child, Preschool
• Female
• Humans
• Infant
• Integrin beta3 (biosynthesis, genetics, metabolism)
• Iran
• Male
• Middle Aged
• Platelet Aggregation (genetics, physiology)
• Platelet Membrane Glycoprotein IIb (biosynthesis, genetics)
• Thrombasthenia (blood, diagnosis, genetics)
• Young Adult