title: 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.affiliation: Department of Physiology and Cardiovascular Research Center, Kerman University of Medical Sciences, Kerman, Iran.
authors.forename: Alireza
authors.initials: A
authors.lastname: Farsinejad
authors.forename: Mohammad M
authors.initials: MM
authors.lastname: Farajollahi
authors.forename: Ahmad
authors.initials: A
authors.lastname: Kazemi
authors.forename: Nazanin
authors.initials: N
authors.lastname: Saemi
authors.forename: Mohammad
authors.initials: M
authors.lastname: Faranoush
mesh_terms: D000293:Adolescent; D000328:Adult; D015153:Blotting, Western; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D039661:Integrin beta3 / Q000096:biosynthesis* / Q000235:genetics / Q000378:metabolism; D007492:Iran; D008297:Male; D008875:Middle Aged; D010974:Platelet Aggregation / Q000235:genetics / Q000502:physiology*; D040201:Platelet Membrane Glycoprotein IIb / Q000096:biosynthesis* / Q000235:genetics; D013915:Thrombasthenia / Q000097:blood* / Q000175:diagnosis / Q000235:genetics*; D055815:Young Adult
chemical_list: D039661:Integrin beta3; D040201:Platelet Membrane Glycoprotein IIb