- 作者：Meganathan Kannan ; Birendra Kumar Yadav ; Firdos Ahmad ; Arijit Biswas ; Renu Saxena
- 关键词：Glanzmann's thrombasthenia ; Clinical phenotype ; Modulation ; Thrombogenic mutations
- 刊名：Clinica Chimica Acta
- 出版年：2009
- 出版时间：May 2009
- 年：2009
- 卷：403
- 期：1-2
- 页码：156-158
- 全文大小：254 K
BackgroundGlanzmann's thrombasthenia (GT) is an autosomal recessive bleeding disorder which is due to a defect in platelet aggregation in response to multiple physiological agonists. It has been demonstrated that the clinical phenotype of various diseases inherited in a classic Mendelian fashion can be modulated by a series of factors, inherited as well as acquired.Methods
A total of 45 GT patients were screened for the thrombogenic polymorphisms, i.e., FV Leiden (R506Q), Prothrombin G20210A, MTHFR C677T and HPA-1 by PCR/RFLP.
Results
MTHFR C677T heterozygous was seen in 6 patients, FV Leiden heterozygous in one and Prothrombin G20210A gene variant in none. HPA-1 was seen in 3 patients of whom 1 was homozygous and 2 were heterozygous.
Conclusion
Thus the coinheritance of heterozygous FV Leiden alone or homozygous HPA 1b alone or the combined heterozygosity of MTHFR and HPA-1 were predicted to alter the clinical phenotype. Whereas the inheritance of heterozygous MTHFR alone or heterozygous HPA-1 alone did not altered the clinical phenotype significantly. Hence FV Leiden, MTHFR C677T polymorphism along with PLA-1 and homozygous HPA-1 were the probable ameliorating factor in GT mild phenotype.