Back
A HETEROZYGOUS MUTATION OF GPIIB IN PATIENT WITH GLANZMANN THROMBASTHENIA
Abstract number: P-T-230
Yu1 Z., Su1 J., Bai1 X., Wang1 Z., Ruan1 C.
1Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, Suzhou, China
How-to-cite Yu Z, Su J, Bai X, Wang Z, Ruan C. A HETEROZYGOUS MUTATION OF GPIIB IN PATIENT WITH GLANZMANN THROMBASTHENIA. J Thromb Haemost 2007; 5 Supplement 2: P-T-230
Abstract
Introduction: Glanzmann thrombasthenia (GT) is a homozygous or double heterozygous autosomal recessive bleeding disorder caused by the qualitative or quantitative deficiency of integrin GPIIb-IIIa, which acts as the receptor of platelet fibrinogen. Here we report a case of GT with a heterozygous mutation in GPIIb according to the results of flow cytometry and genetic investigation.
Methods: The flow cytometry was used to measure the average amounts of integrin GPIIb-IIIa on the patient's platelets, and all 30 exons of GPIIb were amplified and sequenced with the corresponding primers.
Results: The average fluorescence intensity of integrin GPIIb-IIIa were 3.07,12.5 respectively compared with23.7, 254 respectively in the normal healthy individuals. And sequencing analysis of all exons of GPIIb demonstrated that there existed one heterozygote mutation (T 2621G) in the 26thexon of GPIIb, which resulting in Ile 874 to Ser substitution. According to Glanzmann thrombasthenia database (http://sinaicentral.mssm.edu/intranet/research/glanzmann/listmutations?mut=GPIIb), this was a novel mutation in the GPIIb heavy chain.
Conclusions: The Ile874 to Ser substitution is a novel pathogenetic mechanism of GT. Since this disease is a homozygous or double heterozygous autosmal recessive disorder, there must lurk another mutation in the patient's GPIIIa, which should be further investigated.
To cite this abstract use the following format:
Journal of Thrombosis and Haemostasis 2007; Volume 5, Supplement 2: abstract number
Session Details
| Date: |
01/08/2007
|
| Time: |
00:00-00:00
|
| Session name: |
XXIst ISTH Congress |
| Subject: |
|
| Location: |
Oxford, UK |
| Presentation type: |
|
| Back to top |
|
