Flow cytometric analysis of platelet surface glycoproteins in the diagnosis of thirty-two Turkish patients with Glanzmann thrombasthenia: a multicenter experience

Yıl: 2021 Cilt: 51 Sayı: 4 Sayfa Aralığı: 2135 - 2141 Metin Dili: İngilizce DOI: 10.3906/sag-2006-107 İndeks Tarihi: 14-01-2022

Flow cytometric analysis of platelet surface glycoproteins in the diagnosis of thirty-two Turkish patients with Glanzmann thrombasthenia: a multicenter experience

Öz:
Background/aim: Glanzmann thrombasthenia (GT) is a rare autosomal recessively inherited bleeding disorder characterized by the quantitative (type 1 and type 2) or qualitative (type 3) deficiency in platelet membrane glycoprotein (GP) IIb/IIIa (CD41a/CD61) fibrinogen receptors. In type 1, 2, and 3, CD41a/CD61 expression is 5%, 5%–20% and above 20%, respectively. In this study, diagnosis of GT was confirmed and subgroups were identified in 32 Turkish patients by flow cytometry analysis. Materials and methods: CD41a/CD61 expression levels in platelet-rich plasma (PRP) obtained from peripheral venous EDTA blood samples were analyzed with a BD FACSCanto II flow cytometer (Becton Dickinson, Franklin Lakes, NJ, USA). GT subgroup analysis was performed by counting 50,000 events in the BD FACSDiva Software v6.1.3 program of the instrument. Results: In the present study, in blood samples of 32 patients from 23 families with GT and 22 healthy controls, co-expression levels of CD41a and CD61 in PRP was analyzed. 12 out of 23 families were consistent with type 1 GT (52.2%), 4 were consistent with type 2 GT (17.4%), and 7 were consistent with type 3 GT (30.4%). Conclusion: Especially due to consanguineous marriages, GT with various glycoprotein levels may be detected. As a result of the flow cytometry analysis of the present study with the highest GT patient population in Turkey, type 1 GT patients were the most common subgroup. In the determination of the GT subgroups; especially in the detection of type 3 GT, flow cytometry is the most sensitive glycoprotein analysis method. In addition to light transmission aggregometry, CD41a/CD61 study by flow cytometer confirms diagnosis when mutation analysis cannot be performed.Key words: Glanzmann thrombasthenia, glycoprotein IIb/IIIa, flow cytometry, platelet-rich plasma
Anahtar Kelime:

Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık
  • 1. Glanzmann E. Hereditäre häemorrhagische thrombasthenie: ein beitrag zur pathologie der blutplättchen. Jahrbuch für Kinderheilkunde 1918; 88 (1): 113-141.(in German).
  • 2. Nurden AT. Glanzmann thrombasthenia. Orphanet Journal of Rare Diseases 2006; 1 (10): 1-8. doi: 10.1186/1750-1172-1-10
  • 3. Dash DP, Kumar A, Gupta B. Emergency craniotomy in Glanzmann thrombasthenia: anesthetic management and brief review of literature. Journal of Anaesthesiology Clinical Pharmacology 2016; 32 (4): 533-535. doi: 10.4103/0970- 9185.194763
  • 4. King MW. Hemostasis blood coagulation. In: Weitz M, Edmonson KG (editors). Integrative Medical Biochemistry Examination and Board Review. 1st ed. New York, NY, USA: McGraw Hill Education; 2014. pp. 820-825.
  • 5. Caen JP, Castaldi PA, Lecrec JC, Inceman S, Larrieu MJ et al. Congenital bleeding disorders with long bleeding time and normal platelet count: I. Glanzmann’s thrombasthenia (report of fifteen patients). The American Journal of Medicine 1966; 41 (1): 4-26. doi.org/10.1016/0002-9343(66)90003-9
  • 6. Patel D, Väänänen H, Jirouskova M, Hoffmann T, Bodian C et al. Dynamics of GPIIb/IIIa-mediated platelet-platelet interactions in platelet adhesion/thrombus formation on collagen in vitro as revealed by videomicroscopy. Blood 2003; 101 (3): 929-936. doi: 10.1182/blood.V101.3.929
  • 7. George JN, Caen JP, Nurden AT. Glanzmann’s thrombasthenia: the spectrum of clinical disease. Blood 1990; 75 (7): 1383-1395. doi: 10.1182/blood.V75.7.1383.bloodjournal7571383
  • 8. Nurden AT, Caen JP. An abnormal platelet glycoprotein pattern in three cases of Glanzmann’s thrombasthenia. British Journal of Haematology 1974; 28 (2): 253-260. doi: 10.1111/j.1365- 2141.1974.tb06660.x
  • 9. Philips DR, Charo IF, Parise LV, Fitzgerald LA. The platelet membrane glycoprotein IIb-IIIa complex. Blood 1988; 71 (4): 831-843.
  • 10. Nurden AT, Fiore M, Nurden P, Pillois X. Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models. Blood 2011; 118 (23): 5996-6005. doi: 10.1182/ blood-2011-07-365635
  • 11. Nurden AT, Pillois X, Nurden P. Understanding the genetic basis of Glanzmann thrombasthenia: implications for treatment. Expert Review of Hematology 2012; 5 (5): 487-503. doi: 10.1586/ehm.12.46
  • 12. Nurden AT, Ruan J, Pasquet KM, Gauthier B, Combrié R et al. A novel 196Leu to Pro substitution in the beta3 subunit of the alphaIIbbeta3 integrin in a patient with a variant form of Glanzmann thrombasthenia. Platelets 2002; 13 (2): 101-111. doi: 10.1080/09537100220122466
  • 13. Diz-Küçükkaya R. Inherited platelet disorders including Glanzmann thrombasthenia and Bernard-Soulier syndrome. Hematology American Society of Hematology Education Program 2013; 2013 (1): 268-275. doi: 10.1182/ asheducation-2013.1.268
  • 14. Haghighi A, Borhany M, Ghazi A, Edwards N, Tabaksert A et al. Glanzmann thrombasthenia in Pakistan: molecular analysis and identification of novel mutations. Clinical Genetics 2016; 89 (2): 187-192. doi: 10.1111/cge.12622
  • 15. Coller BS, Cheresh DA, Asch E, Seligsohn U. Platelet vitronectin receptor expression differentiates Iraqi-Jewish from Arab patients with Glanzmann’s thrombasthenia in Israel. Blood 1991; 77 (1): 75-83. doi: 10.1182/blood.V77.1.75.75
  • 16. Stevens RF, Meyer S. Fanconi and Glanzmann: the men and their works. British Journal of Haematology 2002; 119 (4): 901- 904. doi: 10.1046/j.1365-2141.2002.03812.x
  • 17. Nurden AT, Nurden P. Inherited disorders of platelets an update. Current Opinion in Hematology 2006; 13 (3): 157-162. doi: 10.1097/01.moh.0000219661.80785.e3
  • 18. Kannan M, Saxena R. Glanzmann’s thrombasthenia: an overview. Clinical and Applied Thrombosis/Hemostasis 2009; 15 (2): 152-165. doi: 10.1177/1076029608326165
  • 19. Di Minno G, Coppola A, Di Minno MN, Poon MC. Glanzmann’s thrombasthenia (defective platelet integrin alphaIIb-beta3): proposals for management between evidence and open issues. Thrombosis and Haemostasis 2009; 102 (6): 1157-1164. doi: 10.1160/TH09-04-0225
  • 20. Grainger JD, Trachil J, Will AM. How we treat the platelet glycoprotein defects; Glanzmann thrombasthenia and Bernard Soulier syndrome in children and adults. British Journal of Haematology 2018; 182 (5): 621-632. doi: 10.1111/bjh.15409
  • 21. Poon MC, Di Minno G, D’Oiron R, Zotz R. New insights into the treatment of Glanzmann thrombasthenia. Transfusion Medicine Reviews 2016; 30 (2): 92-99. doi: 10.1016/j. tmrv.2016.01.001
  • 22. Kutlubay B, Özdemir NG, Tüysüz G, Apak H, Celkan T. Glanzmann thrombasthenia: Cerrahpaşa Medical Faculty experience. Turkish Archives of Pediatrics 2012; 47 (2): 106- 108. doi: 10.4274/tpa.823
  • 23. Tokgöz H, Torun OD, Çalışkan U, Akar N. Novel mutations of integrin αIIb and β3 genes in Turkish children with Glanzmann’s thrombasthenia. Platelets 2015; 26 (8): 779-782. doi: 10.3109/09537104.2014.998994
  • 24. Kannan M, Ahmad F, Yadav BK, Anand M, Jain P et al. Glanzmann’s thrombasthenia in North Indians: sub classification and carrier detection by flow cytometry. Platelets 2009; 20 (1): 12-15. doi: 10.1080/09537100802434853
  • 25. Hassan HO, Al-Mudalal SS, Alubaidy YG, Al-Rahal NK. Expression of CD41 (GPIIb) and CD61 (GPIIIa) in patients with Glanzmann thrombasthenia using flow cytometry. Iraqi Journal of Medical Sciences 2016; 14 (3): 266-275.
  • 26. Arias EG, Butta N, Gonzalez C, Larrucea S, Ayuso MS et al. Competition between normal (674C) and mutant (674R) GPIIb subunits: role of the molecular chaperone BiP in the processing of GPIIb-IIIa complexes. Blood 2001; 97 (9): 2640- 2647. doi: 10.1182/blood.v97.9.2640
  • 27. Farsinejad A, Farajollahi MM, Kazemi A, Saemi N, Faranoush M. Different biochemical expression pattern of platelet surface glycoproteins suggests molecular diversity of Glanzmann’s thrombasthenia in Iran. Blood Coagulation & Fibrinolysis 2013; 24 (6): 613-618. doi: 10.1097/MBC.0b013e328360a558
  • 28. Vijapurkar M, Ghosh K, Shetty S, McLane MA, Moura da Silva AM et al. A simple, novel and robust test to diagnose type I Glanzmann thrombasthenia. Haematologica 2008; 93 (5): 797- 798. doi: 10.3324/haematol.12288
  • 29. Lobo V, Shetty S, Kulkarni B, Ghosh K. A novel ELISA for diagnosis of Glanzmann’s thrombasthenia and the heterozygote carriers. Annals of Hematology 2012; 91 (6): 917- 921. doi: 10.1007/s00277-011-1390-1
APA SARAYMEN B, MUHTAROĞLU S, koker M, Sarper N, zengin e, albayrak c, Albayrak D, Zulfikar B, Koc B, Bentli E, YILMAZ S, Cetin A, Eser B, ÇETİN M (2021). Flow cytometric analysis of platelet surface glycoproteins in the diagnosis of thirty-two Turkish patients with Glanzmann thrombasthenia: a multicenter experience. , 2135 - 2141. 10.3906/sag-2006-107
Chicago SARAYMEN BERKAY,MUHTAROĞLU Sabahattin,koker Mustafa Yavuz,Sarper Nazan,zengin emine,albayrak canan,Albayrak Davut,Zulfikar Bulent,Koc Basak,Bentli Esma,YILMAZ SEMİH,Cetin Aysun,Eser Bülent,ÇETİN Mustafa Flow cytometric analysis of platelet surface glycoproteins in the diagnosis of thirty-two Turkish patients with Glanzmann thrombasthenia: a multicenter experience. (2021): 2135 - 2141. 10.3906/sag-2006-107
MLA SARAYMEN BERKAY,MUHTAROĞLU Sabahattin,koker Mustafa Yavuz,Sarper Nazan,zengin emine,albayrak canan,Albayrak Davut,Zulfikar Bulent,Koc Basak,Bentli Esma,YILMAZ SEMİH,Cetin Aysun,Eser Bülent,ÇETİN Mustafa Flow cytometric analysis of platelet surface glycoproteins in the diagnosis of thirty-two Turkish patients with Glanzmann thrombasthenia: a multicenter experience. , 2021, ss.2135 - 2141. 10.3906/sag-2006-107
AMA SARAYMEN B,MUHTAROĞLU S,koker M,Sarper N,zengin e,albayrak c,Albayrak D,Zulfikar B,Koc B,Bentli E,YILMAZ S,Cetin A,Eser B,ÇETİN M Flow cytometric analysis of platelet surface glycoproteins in the diagnosis of thirty-two Turkish patients with Glanzmann thrombasthenia: a multicenter experience. . 2021; 2135 - 2141. 10.3906/sag-2006-107
Vancouver SARAYMEN B,MUHTAROĞLU S,koker M,Sarper N,zengin e,albayrak c,Albayrak D,Zulfikar B,Koc B,Bentli E,YILMAZ S,Cetin A,Eser B,ÇETİN M Flow cytometric analysis of platelet surface glycoproteins in the diagnosis of thirty-two Turkish patients with Glanzmann thrombasthenia: a multicenter experience. . 2021; 2135 - 2141. 10.3906/sag-2006-107
IEEE SARAYMEN B,MUHTAROĞLU S,koker M,Sarper N,zengin e,albayrak c,Albayrak D,Zulfikar B,Koc B,Bentli E,YILMAZ S,Cetin A,Eser B,ÇETİN M "Flow cytometric analysis of platelet surface glycoproteins in the diagnosis of thirty-two Turkish patients with Glanzmann thrombasthenia: a multicenter experience." , ss.2135 - 2141, 2021. 10.3906/sag-2006-107
ISNAD SARAYMEN, BERKAY vd. "Flow cytometric analysis of platelet surface glycoproteins in the diagnosis of thirty-two Turkish patients with Glanzmann thrombasthenia: a multicenter experience". (2021), 2135-2141. https://doi.org/10.3906/sag-2006-107
APA SARAYMEN B, MUHTAROĞLU S, koker M, Sarper N, zengin e, albayrak c, Albayrak D, Zulfikar B, Koc B, Bentli E, YILMAZ S, Cetin A, Eser B, ÇETİN M (2021). Flow cytometric analysis of platelet surface glycoproteins in the diagnosis of thirty-two Turkish patients with Glanzmann thrombasthenia: a multicenter experience. Turkish Journal of Medical Sciences, 51(4), 2135 - 2141. 10.3906/sag-2006-107
Chicago SARAYMEN BERKAY,MUHTAROĞLU Sabahattin,koker Mustafa Yavuz,Sarper Nazan,zengin emine,albayrak canan,Albayrak Davut,Zulfikar Bulent,Koc Basak,Bentli Esma,YILMAZ SEMİH,Cetin Aysun,Eser Bülent,ÇETİN Mustafa Flow cytometric analysis of platelet surface glycoproteins in the diagnosis of thirty-two Turkish patients with Glanzmann thrombasthenia: a multicenter experience. Turkish Journal of Medical Sciences 51, no.4 (2021): 2135 - 2141. 10.3906/sag-2006-107
MLA SARAYMEN BERKAY,MUHTAROĞLU Sabahattin,koker Mustafa Yavuz,Sarper Nazan,zengin emine,albayrak canan,Albayrak Davut,Zulfikar Bulent,Koc Basak,Bentli Esma,YILMAZ SEMİH,Cetin Aysun,Eser Bülent,ÇETİN Mustafa Flow cytometric analysis of platelet surface glycoproteins in the diagnosis of thirty-two Turkish patients with Glanzmann thrombasthenia: a multicenter experience. Turkish Journal of Medical Sciences, vol.51, no.4, 2021, ss.2135 - 2141. 10.3906/sag-2006-107
AMA SARAYMEN B,MUHTAROĞLU S,koker M,Sarper N,zengin e,albayrak c,Albayrak D,Zulfikar B,Koc B,Bentli E,YILMAZ S,Cetin A,Eser B,ÇETİN M Flow cytometric analysis of platelet surface glycoproteins in the diagnosis of thirty-two Turkish patients with Glanzmann thrombasthenia: a multicenter experience. Turkish Journal of Medical Sciences. 2021; 51(4): 2135 - 2141. 10.3906/sag-2006-107
Vancouver SARAYMEN B,MUHTAROĞLU S,koker M,Sarper N,zengin e,albayrak c,Albayrak D,Zulfikar B,Koc B,Bentli E,YILMAZ S,Cetin A,Eser B,ÇETİN M Flow cytometric analysis of platelet surface glycoproteins in the diagnosis of thirty-two Turkish patients with Glanzmann thrombasthenia: a multicenter experience. Turkish Journal of Medical Sciences. 2021; 51(4): 2135 - 2141. 10.3906/sag-2006-107
IEEE SARAYMEN B,MUHTAROĞLU S,koker M,Sarper N,zengin e,albayrak c,Albayrak D,Zulfikar B,Koc B,Bentli E,YILMAZ S,Cetin A,Eser B,ÇETİN M "Flow cytometric analysis of platelet surface glycoproteins in the diagnosis of thirty-two Turkish patients with Glanzmann thrombasthenia: a multicenter experience." Turkish Journal of Medical Sciences, 51, ss.2135 - 2141, 2021. 10.3906/sag-2006-107
ISNAD SARAYMEN, BERKAY vd. "Flow cytometric analysis of platelet surface glycoproteins in the diagnosis of thirty-two Turkish patients with Glanzmann thrombasthenia: a multicenter experience". Turkish Journal of Medical Sciences 51/4 (2021), 2135-2141. https://doi.org/10.3906/sag-2006-107