484
Views
2
CrossRef citations to date
0
Altmetric
Review

Glanzmann Thrombasthenia: Perspectives from Clinical Practice on Accurate Diagnosis and Optimal Treatment Strategies

, &
Pages 449-463 | Published online: 11 Jun 2021

References

  • Botero JP, Lee K, Branchford BR, et al. Glanzmann thrombasthenia: genetic basis and clinical correlates. Haematologica. 2020;105(4):888–894. doi:10.3324/haematol.2018.214239
  • Krause KA, Graham BC. Glanzmann Thrombasthenia. 2020. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021. PMID: 30855858.
  • 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
  • George JN, Caen JP, Nurden AT. Glanzmann’s thrombasthenia: the spectrum of clinical disease. Blood. 1990;75(7):1383–1395. doi:10.1182/blood.V75.7.1383.1383
  • Lee A, Poon MC. Inherited platelet functional disorders: general principles and practical aspects of management. Transfus Apher Sci. 2018;57(4):494–501. doi:10.1016/j.transci.2018.07.010
  • Borhany M, Fatima H, Naz A, Patel H, Shamsi T. Pattern of bleeding and response to therapy in Glanzmann thrombasthenia. Haemophilia. 2012;18(6):e423–5. doi:10.1111/hae.12017
  • Glanzmann E. Hereditare hämorrhagische thrombasthenie. Ein Beitrag zur Pathologie der Blutplättchen. Jb Kinderheilk. 1918;88:133. German.
  • Bellucci S, Caen J. Molecular basis of Glanzmann’s thrombasthenia and current strategies in treatment. Blood Rev. 2002;16(3):193–202. doi:10.1016/s0268-960x(02)00030-9
  • Coller B. A brief history of ideas about platelets in health and disease. Platelets. 2007;170. doi:10.1016/B978-0-12-387837-3.00069-9
  • Stevens RF, Meyer S. Fanconi and Glanzmann: the men and their works. Br J Haematol. 2002;119(4):901–904. doi:10.1046/j.1365-2141.2002.03812.x
  • Caen J, Cousin C. [“In vivo” disorder of platelet adhesiveness in Willebrand’s disease and Glanzmann’s thrombasthenias. Trial interpretation]. Nouv Rev Fr Hematol. 1962;2:685–694. [Slovenian].
  • Phillips DR, Agin PP. Platelet membrane defects in Glanzmann’s thrombasthenia. Evidence for decreased amounts of two major glycoproteins. J Clin Invest. 1977;60(3):535–545. doi:10.1172/JCI108805
  • Kunicki TJ, Aster RH. Deletion of the platelet-specific alloantigen PlA1 from platelets in Glanzmann’s thrombasthenia. J Clin Invest. 1978;61(5):1225–1231. doi:10.1172/JCI109038
  • Hagen I, Solum NO. Further studies on the protein composition and surface structure of normal platelets and platelets from patients with Glanzmann’s thrombasthenia and Bernard-Soulier syndrome. Thromb Res. 1978;13(5):845–855. doi:10.1016/0049-3848(78)90189-5
  • Nurden AT, Caen JP. The different glycoprotein abnormalities in thrombasthenic and Bernard-Soulier platelets. Semin Hematol. 1979;16(3):234–250.
  • Nurden AT. Inherited abnormalities of platelets. Thromb Haemost. 1999;82(2):468–480. doi:10.1055/s-0037-1615867
  • Coller BS, Cheresh DA, Asch E, Seligsohn U. Platelet vitronectin receptor expression differentiates Iraqi-Jewish from Arab patients with Glanzmann thrombasthenia in Israel. Blood. 1991;77(1):75–83. doi:10.1182/blood.V77.1.75.75
  • Nurden P, Poujol C, Nurden AT. The evolution of megakaryocytes to platelets. Baillieres Clin Haematol. 1997;10(1):1–27. doi:10.1016/s0950-3536(97)80048-0
  • Mitchell WB, Li J, French DL, Coller BS. alphaIIbbeta3 biogenesis is controlled by engagement of alphaIIb in the calnexin cycle via the N15-linked glycan. Blood. 2006;107(7):2713–2719. doi:10.1182/blood-2005-07-2990
  • Nurden AT, Pillois X, Fiore M, et al. Expanding the mutation spectrum affecting αIIbβ3 integrin in Glanzmann thrombasthenia: screening of the ITGA2B and ITGB3 genes in a large international cohort. Hum Mutat. 2015;36(5):548–561. doi:10.1002/humu.22776
  • Carrell NA, Fitzgerald LA, Steiner B, Erickson HP, Phillips DR. Structure of human platelet membrane glycoproteins IIb and IIIa as determined by electron microscopy. J Biol Chem. 1985;260(3):1743–1749. doi:10.1016/S0021-9258(18)89656-9
  • González-Manchón C, Fernández-Pinel M, Arias-Salgado EG, et al. Molecular genetic analysis of a compound heterozygote for the glycoprotein (GP) IIb gene associated with Glanzmann’s thrombasthenia: disruption of the 674–687 disulfide bridge in GPIIb prevents surface exposure of GPIIb-IIIa complexes. Blood. 1999;93(3):866–875. doi:10.1182/blood.V93.3.866
  • Yang J, Ma YQ, Page RC, Misra S, Plow EF, Qin J. Structure of an integrin alphaIIb beta3 transmembrane-cytoplasmic heterocomplex provides insight into integrin activation. Proc Natl Acad Sci U S A. 2009;106(42):17729–17734. doi:10.1073/pnas.0909589106
  • Shattil SJ, Newman PJ. Integrins: dynamic scaffolds for adhesion and signaling in platelets. Blood. 2004;104(6):1606–1615. doi:10.1182/blood-2004-04-1257
  • Coller BS, Shattil SJ. The GPIIb/IIIa (integrin alphaIIbbeta3) odyssey: a technology-driven saga of a receptor with twists, turns, and even a bend. Blood. 2008;112(8):3011–3025. doi:10.1182/blood-2008-06-077891
  • Armstrong PC, Peter K. GPIIb/IIIa inhibitors: from bench to bedside and back to bench again. Thromb Haemost. 2012;107(5):808–814. doi:10.1160/TH11-10-0727
  • Zhu J, Negri A, Provasi D, Filizola M, Coller BS, Springer TA. Closed headpiece of integrin αIIbβ3 and its complex with an αIIbβ3-specific antagonist that does not induce opening. Blood. 2010;116(23):5050–5059. doi:10.1182/blood-2010-04-281154
  • Kieffer N, Phillips DR. Platelet membrane glycoproteins: functions in cellular interactions. Annu Rev Cell Biol. 1990;6:329–357. doi:10.1146/annurev.cb.06.110190.001553
  • Farrell DH, Thiagarajan P. Binding of recombinant fibrinogen mutants to platelets. J Biol Chem. 1994;269(1):226–231. doi:10.1016/S0021-9258(17)42338-6
  • Du X, Ginsberg MH. Integrin αIIbβ3 and platelet function. Thromb Haemost. 1997;78(1):96–100. doi:10.1055/s-0038-1657508
  • Fiore M, d’Oiron R, Pillois X, Alessi MC. Anti-α. Br J Haematol. 2018;181(2):173–182. doi:10.1111/bjh.15087
  • Gemmell CH, Sefton MV, Yeo EL. Platelet-derived microparticle formation involves glycoprotein IIb-IIIa. Inhibition by RGDS and a Glanzmann’s thrombasthenia defect. J Biol Chem. 1993;268(20):14586–14589. doi:10.1016/S0021-9258(18)82371-7
  • Reverter JC, Béguin S, Kessels H, Kumar R, Hemker HC, Coller BS. Inhibition of platelet-mediated, tissue factor-induced thrombin generation by the mouse/human chimeric 7E3 antibody. Potential implications for the effect of c7E3 Fab treatment on acute thrombosis and “clinical restenosis”. J Clin Invest. 1996;98(3):863–874. doi:10.1172/JCI118859
  • Byzova TV, Plow EF. Networking in the hemostatic system. Integrin alphaiibbeta3 binds prothrombin and influences its activation. J Biol Chem. 1997;272(43):27183–27188. doi:10.1074/jbc.272.43.27183
  • Solh T, Botsford A, Solh M. Glanzmann’s thrombasthenia: pathogenesis, diagnosis, and current and emerging treatment options. J Blood Med. 2015;6:219–227. doi:10.2147/JBM.S71319
  • Fiore M, Nurden AT, Nurden P, Seligsohn U. Clinical utility gene card for: Glanzmann thrombasthenia. Eur J Hum Genet. 2012;20(10). doi:10.1038/ejhg.2012.151
  • Ward CM, Kestin AS, Newman PJ. A Leu262Pro mutation in the integrin beta(3) subunit results in an alpha(IIb)-beta(3) complex that binds fibrin but not fibrinogen. Blood. 2000;96(1):161–169. doi:10.1182/blood.V96.1.161
  • Ruan J, Peyruchaud O, Alberio L, et al. Double heterozygosity of the GPIIb gene in a Swiss patient with Glanzmann’s thrombasthenia. Br J Haematol. 1998;102(4):918–925. doi:10.1046/j.1365-2141.1998.00852.x
  • French DL. The molecular genetics of Glanzmann’s thrombasthenia. Platelets. 1998;9(1):5–20. doi:10.1080/09537109876951
  • Schlegel N, Gayet O, Morel-Kopp MC, et al. The molecular genetic basis of Glanzmann’s thrombasthenia in a gypsy population in France: identification of a new mutation on the alpha IIb gene. Blood. 1995;86(3):977–982. doi:10.1182/blood.V86.3.977.977
  • Vinciguerra C, Bordet JC, Beaune G, Grenier C, Dechavanne M, Négrier C. Description of 10 new mutations in platelet glycoprotein IIb (alphaIIb) and glycoprotein IIIa (beta3) genes. Platelets. 2001;12(8):486–495. doi:10.1080/095371001317126383
  • Fullard J, Murphy R, O’Neill S, Moran N, Ottridge B, Fitzgerald DJ. A Val193Met mutation in GPIIIa results in a GPIIb/IIIa receptor with a constitutively high affinity for a small ligand. Br J Haematol. 2001;115(1):131–139. doi:10.1046/j.1365-2141.2001.03075.x
  • Tadokoro S, Tomiyama Y, Honda S, et al. Missense mutations in the β3 subunit have a different impact on the expression and function between αIIbβ3 and αvβ3. Blood. 2002;99(3):931–938. doi:10.1182/blood.v99.3.931
  • Loftus JC, O’Toole TE, Plow EF, Glass A, Frelinger AL, Ginsberg MH. A beta 3 integrin mutation abolishes ligand binding and alters divalent cation-dependent conformation. Science. 1990;249(4971):915–918. doi:10.1126/science.2392682
  • Bajt ML, Ginsberg MH, Frelinger AL, Berndt MC, Loftus JC. A spontaneous mutation of integrin alpha IIb beta 3 (platelet glycoprotein IIb-IIIa) helps define a ligand binding site. J Biol Chem. 1992;267(6):3789–3794. doi:10.1016/S0021-9258(19)50595-6
  • Chen YP, Djaffar I, Pidard D, et al. Ser-752–>Pro mutation in the cytoplasmic domain of integrin beta 3 subunit and defective activation of platelet integrin alpha IIb beta 3 (glycoprotein IIb-IIIa) in a variant of Glanzmann thrombasthenia. Proc Natl Acad Sci U S A. 1992;89(21):10169–10173. doi:10.1073/pnas.89.21.10169
  • Ganapule A, Jain P, Abubacker FN, et al. Surgical procedures in patients with Glanzmann’s thrombasthenia: case series and literature review. Blood Coagul Fibrinolysis. 2017;28(2):171–175. doi:10.1097/MBC.0000000000000524
  • Casati V, D’Angelo A, Barbato L, et al. Perioperative management of a heterozygous carrier of Glanzmann’s thrombasthenia submitted to coronary artery bypass grafting with cardiopulmonary bypass. Anesth Analg. 2006;103(2):309–311. doi:10.1213/01.ane.0000226087.11062.cd
  • Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–424. doi:10.1038/gim.2015.30
  • Nurden AT. Acquired antibodies to αIIbβ3 in Glanzmann thrombasthenia: from transfusion and pregnancy to bone marrow transplants and beyond. Transfus Med Rev. 2018;32(3):155–164. doi:10.1016/j.tmrv.2018.05.002
  • Kashiwagi H, Kunishima S, Kiyomizu K, et al. Demonstration of novel gain-of-function mutations of αIIbβ3: association with macrothrombocytopenia and glanzmann thrombasthenia-like phenotype. Mol Genet Genomic Med. 2013;1(2):77–86. doi:10.1002/mgg3.9
  • Jayo A, Conde I, Lastres P, et al. L718P mutation in the membrane-proximal cytoplasmic tail of beta 3 promotes abnormal alpha IIb beta 3 clustering and lipid microdomain coalescence, and associates with a thrombasthenia-like phenotype. Haematologica. 2010;95(7):1158–1166. doi:10.3324/haematol.2009.018572
  • Gresele P, Falcinelli E, Giannini S, et al. Dominant inheritance of a novel integrin beta3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families. Haematologica. 2009;94(5):663–669. doi:10.3324/haematol.2008.002246
  • Poncz M, Rifat S, Coller BS, et al. Glanzmann thrombasthenia secondary to a Gly273–>Asp mutation adjacent to the first calcium-binding domain of platelet glycoprotein IIb. J Clin Invest. 1994;93(1):172–179. doi:10.1172/JCI116942
  • Losonczy G, Rosenberg N, Boda Z, et al. Three novel mutations in the glycoprotein IIb gene in a patient with type II Glanzmann thrombasthenia. Haematologica. 2007;92(5):698–701. doi:10.3324/haematol.10847
  • Nurden P, Poujol C, Winckler J, Combrié R, Caen JP, Nurden AT. A Ser752–>Pro substitution in the cytoplasmic domain of beta3 in a Glanzmann thrombasthenia variant fails to prevent interactions between the alphaIIbbeta3 integrin and the platelet granule pool of fibrinogen. Br J Haematol. 2002;118(4):1143–1151. doi:10.1046/j.1365-2141.2002.03758.x
  • Sharma P, Kar R, Bhargava R, Ranjan R, Mishra PC, Saxena R. Acquired platelet dysfunction in 109 patients from a tertiary care referral hospital. Clin Appl Thromb Hemost. 2011;17(1):88–93. doi:10.1177/1076029610379397
  • Nurden AT. Acquired Glanzmann thrombasthenia: from antibodies to anti-platelet drugs. Blood Rev. 2019;36:10–22. doi:10.1016/j.blre.2019.03.004
  • Cines DB, Bussel JB, Liebman HA, Luning Prak ET. The ITP syndrome: pathogenic and clinical diversity. Blood. 2009;113(26):6511–6521. doi:10.1182/blood-2009-01-129155
  • Linge P, Fortin PR, Lood C, Bengtsson AA, Boilard E. The non-haemostatic role of platelets in systemic lupus erythematosus. Nat Rev Rheumatol. 2018;14(4):195–213. doi:10.1038/nrrheum.2018.38
  • Poon MC, Di Minno G, d’Oiron R, Zotz R. New insights into the treatment of Glanzmann thrombasthenia. Transfus Med Rev. 2016;30(2):92–99. doi:10.1016/j.tmrv.2016.01.001
  • Awidi AS. Increased incidence of Glanzmann’s thrombasthenia in Jordan as compared with Scandinavia. Scand J Haematol. 1983;30(3):218–222. doi:10.1111/j.1600-0609.1983.tb01477.x
  • Iqbal I, Farhan S, Ahmed N. Glanzmann thrombasthenia: a clinicopathological profile. J Coll Physicians Surg Pak. 2016;26(8):647–650.
  • Franchini M, Favaloro EJ, Lippi G. Glanzmann thrombasthenia: an update. Clin Chim Acta. 2010;411(1–2):1–6. doi:10.1016/j.cca.2009.10.016
  • Rosas RR, Kurth MH, Sidman J. Treatment and outcomes for epistaxis in children with Glanzmann’s thrombasthenia. Laryngoscope. 2010;120(12):2374–2377. doi:10.1002/lary.21034
  • Lowe GC, Lordkipanidzé M, Watson SP; group UGs. Utility of the ISTH bleeding assessment tool in predicting platelet defects in participants with suspected inherited platelet function disorders. J Thromb Haemost. 2013;11(9):1663–1668. doi:10.1111/jth.12332
  • Gresele P, Orsini S, Noris P, et al. Validation of the ISTH/SSC bleeding assessment tool for inherited platelet disorders: a communication from the platelet physiology SSC. J Thromb Haemost. 2020;18(3):732–739. doi:10.1111/jth.14683
  • Rognoni E, Ruppert R, Fässler R. The kindlin family: functions, signaling properties and implications for human disease. J Cell Sci. 2016;129(1):17–27. doi:10.1242/jcs.161190
  • Lillicrap D, James P. Von Willebrand Disease: An Introduction for the Primary Care Physician. Montreal, QC, Canada: World Federation of Hemophilia; 2009.
  • Michel M. Immune thrombocytopenic purpura: epidemiology and implications for patients. Eur J Haematol Suppl. 2009;71:3–7. doi:10.1111/j.1600-0609.2008.01206.x
  • Iorio A, Stonebraker JS, Chambost H, et al. Establishing the prevalence and prevalence at birth of hemophilia in males: a meta-analytic approach using national registries. Ann Intern Med. 2019;171(8):540–546. doi:10.7326/m19-1208
  • Gresele P, Harrison P, Bury L, et al. Diagnosis of suspected inherited platelet function disorders: results of a worldwide survey. J Thromb Haemost. 2014;12(9):1562–1569. doi:10.1111/jth.12650
  • Kürekçi AE, Atay AA, Sarící SU, Zeybek C, Köseoğlu V, Ozcan O. Effect of iron therapy on the whole blood platelet aggregation in infants with iron deficiency anemia. Thromb Res. 2000;97(5):281–285. doi:10.1016/s0049-3848(99)00150-4
  • Akay OM, Akin E, Mutlu FS, Gulbas Z. Effect of iron therapy on platelet function among iron-deficient women with unexplained menorrhagia. Pathophysiol Haemost Thromb. 2008;36(2):80–83. doi:10.1159/000173726
  • Moenen F, Vries MJA, Nelemans PJ, et al. Screening for platelet function disorders with multiplate and platelet function analyzer. Platelets. 2019;30(1):81–87. doi:10.1080/09537104.2017.1371290
  • McCabe White M, Jennings LK. Platelet Protocols: Research and Clinical Laboratory Procedures. Academic Press; 1999.
  • Bolton-Maggs PH, Chalmers EA, Collins PW, et al. A review of inherited platelet disorders with guidelines for their management on behalf of the UKHCDO. Br J Haematol. 2006;135(5):603–633. doi:10.1111/j.1365-2141.2006.06343.x
  • Favaloro EJ. Clinical utility of the PFA-100. Semin Thromb Hemost. 2008;34(8):709–733. doi:10.1055/s-0029-1145254
  • Mezzano D, Quiroga T, Pereira J. The level of laboratory testing required for diagnosis or exclusion of a platelet function disorder using platelet aggregation and secretion assays. Semin Thromb Hemost. 2009;35(2):242–254. doi:10.1055/s-0029-1220785
  • Cattaneo M, Lecchi A, Zighetti ML, Lussana F. Platelet aggregation studies: autologous platelet-poor plasma inhibits platelet aggregation when added to platelet-rich plasma to normalize platelet count. Haematologica. 2007;92(5):694–697. doi:10.3324/haematol.10999
  • Dacie SJV, Lewis SM. Practical Haematology. 6th ed. Churchill Livingstone; 1984.
  • Cattaneo M. Inherited platelet-based bleeding disorders. J Thromb Haemost. 2003;1(7):1628–1636. doi:10.1046/j.1538-7836.2003.00266.x
  • Philp R. Methods of Testing Proposed Anti Thrombotic Drugs. CRC Press; 1981.
  • Mutreja D, Sharma RK, Purohit A, Aggarwal M, Saxena R. Evaluation of platelet surface glycoproteins in patients with Glanzmann thrombasthenia: association with bleeding symptoms. Indian J Med Res. 2017;145(5):629–634. doi:10.4103/ijmr.IJMR_718_14
  • Giannini S, Mezzasoma AM, Guglielmini G, Rossi R, Falcinelli E, Gresele P. A new case of acquired Glanzmann’s thrombasthenia: diagnostic value of flow cytometry. Cytometry B Clin Cytom. 2008;74(3):194–199. doi:10.1002/cyto.b.20396
  • Owaidah T, Saleh M, Baz B, et al. Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients. NPJ Genom Med. 2019;4:4. doi:10.1038/s41525-019-0079-6
  • Bastida JM, Lozano ML, Benito R, et al. Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders. Haematologica. 2018;103(1):148–162. doi:10.3324/haematol.2017.171132
  • Downes K, Megy K, Duarte D, et al. Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. Blood. 2019;134(23):2082–2091. doi:10.1182/blood.2018891192
  • Simeoni I, Stephens JC, Hu F, et al. A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders. Blood. 2016;127(23):2791–2803. doi:10.1182/blood-2015-12-688267
  • Amesse C, Baillargeon L, Bissonnette D, et al. Glanzmann Thrombasthenia: An Inherited Bleeding Disorder. 2nd. Canadian Hemophilia Society & Canadian Association of Nurses in Hemophilia Care;2014.
  • Mehta DN, Bhatia R. Dental considerations in the management of Glanzmann’s thrombasthenia. Int J Clin Pediatr Dent. 2010;3(1):51–56. doi:10.5005/jp-journals-10005-1054
  • Almeida AM, Khair K, Hann I, Liesner R. The use of recombinant factor VIIa in children with inherited platelet function disorders. Br J Haematol. 2003;121(3):477–481. doi:10.1046/j.1365-2141.2003.04286.x
  • Jayakrishnan TT, Limonnik V, Shah D, Mewawalla P. Glanzmann’s thrombasthenia: how listening to the patient is sometimes the simple key to good medicine! Case Rep Med. 2020;2020:4862987. doi:10.1155/2020/4862987
  • Kulkarni B, Ghosh K, Shetty S. Second trimester prenatal diagnosis in Glanzmann’s thrombasthenia. Haemophilia. 2016;22(2):e99–e100. doi:10.1111/hae.12865
  • Soni P, Mantri S, Prabhudesai A, Patil R, Shanmukhaiah C, Shetty S. Triple jeopardy: a case of Glanzmann’s thrombasthenia with anti-GPIIb-IIIa antibodies and HPA incompatibility resulting in stillbirth. Thromb Res. 2019;181:141–144. doi:10.1016/j.thromres.2019.07.022
  • Siddiq S, Clark A, Mumford A. A systematic review of the management and outcomes of pregnancy in Glanzmann thrombasthenia. Haemophilia. 2011;17(5):e858–69. doi:10.1111/j.1365-2516.2011.02516.x
  • Léticée N, Kaplan C, Lémery D. Pregnancy in mother with Glanzmann’s thrombasthenia and isoantibody against GPIIb-IIIa: is there a foetal risk? Eur J Obstet Gynecol Reprod Biol. 2005;121(2):139–142. doi:10.1016/j.ejogrb.2005.02.011
  • Forsyth AL, Zourikian N, Valentino LA, Rivard GE. The effect of cooling on coagulation and haemostasis: should “Ice” be part of treatment of acute haemarthrosis in haemophilia? Haemophilia. 2012;18(6):843–850. doi:10.1111/j.1365-2516.2012.02918.x
  • Forsyth AL, Zourikian N, Rivard GE, Valentino LA. An ‘ice age’ concept? The use of ice in the treatment of acute haemarthrosis in haemophilia. Haemophilia. 2013;19(6):e393–6. doi:10.1111/hae.12265
  • Levy JH, Koster A, Quinones QJ, Milling TJ, Key NS. Antifibrinolytic therapy and perioperative considerations. Anesthesiology. 2018;128(3):657–670. doi:10.1097/ALN.0000000000001997
  • Tengborn L, Blombäck M, Berntorp E. Tranexamic acid–an old drug still going strong and making a revival. Thromb Res. 2015;135(2):231–242. doi:10.1016/j.thromres.2014.11.012
  • Lombardo VT, Sottilotta G. Recombinant activated factor VII combined with desmopressin in preventing bleeding from dental extraction in a patient with Glanzmann’s thrombasthenia. Clin Appl Thromb Hemost. 2006;12(1):115–116. doi:10.1177/107602960601200120
  • Ghosh K, Kulkarni B, Shetty S, Nair S. Antiplatelet antibodies in cases of Glanzmann’s thrombasthenia with and without a history of multiple platelet transfusion. Indian J Hum Genet. 2009;15(1):23–27. doi:10.4103/0971-6866.50866
  • Rajpurkar M, Chitlur M, Recht M, Cooper DL. Use of recombinant activated factor VII in patients with Glanzmann’s thrombasthenia: a review of the literature. Haemophilia. 2014;20(4):464–471. doi:10.1111/hae.12473
  • Poon MC, D’Oiron R, Von Depka M, et al. Prophylactic and therapeutic recombinant factor VIIa administration to patients with Glanzmann’s thrombasthenia: results of an international survey. J Thromb Haemost. 2004;2(7):1096–1103. doi:10.1111/j.1538-7836.2004.00767.x
  • Di Minno G, Zotz RB, d’Oiron R, et al. The international, prospective Glanzmann thrombasthenia registry: treatment modalities and outcomes of non-surgical bleeding episodes in patients with Glanzmann thrombasthenia. Haematologica. 2015;100(8):1031–1037. doi:10.3324/haematol.2014.121475
  • Dubick MA, Dorfman R, Klemcke HG, et al. Stability of activated recombinant human factor VII (rFVIIa) after 28 days storage at 24° C and 43° C. Blood. 2008;112:4074. doi:10.1182/blood.V112.11.4074.4074
  • Lak M, Scharling B, Blemings A, et al. Evaluation of rFVIIa (NovoSeven) in Glanzmann patients with thromboelastogram. Haemophilia. 2008;14(1):103–110. doi:10.1111/j.1365-2516.2007.01592.x
  • Lisman T, Moschatsis S, Adelmeijer J, Nieuwenhuis HK, De Groot PG. Recombinant factor VIIa enhances deposition of platelets with congenital or acquired alpha IIb beta 3 deficiency to endothelial cell matrix and collagen under conditions of flow via tissue factor-independent thrombin generation. Blood. 2003;101(5):1864–1870. doi:10.1182/blood-2002-09-2761
  • Poon MC. Clinical use of recombinant human activated factor VII (rFVIIa) in the prevention and treatment of bleeding episodes in patients with Glanzmann’s thrombasthenia. Vasc Health Risk Manag. 2007;3(5):655–664.
  • Birschmann I, Klamroth R, Eichler H, Schenk J, Kirchmaier CM, Halimeh S. Results of the WIRK prospective, non-interventional observational study of recombinant activated factor VII (rFVIIa) in patients with congenital haemophilia with inhibitors and other bleeding disorders. Haemophilia. 2013;19(5):679–685. doi:10.1111/hae.12156
  • Rakocz M, Lavie G, Martinowitz U. Glanzmann’s thrombasthenia: the use of autologous fibrin glue in tooth extractions. ASDC J Dent Child. 1995;62(2):129–131.
  • Franco R, Miranda M, Di Renzo L, De Lorenzo A, Barlattani A, Bollero P. Glanzmann’s thrombastenia: the role of tranexamic acid in oral surgery. Case Rep Dent. 2018;2018:9370212. doi:10.1155/2018/9370212
  • Nurden AT. Glanzmann thrombasthenia. Orphanet J Rare Dis. 2006;1:10. doi:10.1186/1750-1172-1-10
  • Herman MC, Mak N, Geomini PM, et al. Is the Pictorial Blood Loss Assessment Chart (PBAC) score associated with treatment outcome after endometrial ablation for heavy menstrual bleeding? A cohort study. BJOG. 2017;124(2):277–282. doi:10.1111/1471-0528.14434
  • Higham JM, O’Brien PM, Shaw RW. Assessment of menstrual blood loss using a pictorial chart. Br J Obstet Gynaecol. 1990;97(8):734–739. doi:10.1111/j.1471-0528.1990.tb16249.x
  • Nurden AT, Pillois X, Wilcox DA. Glanzmann thrombasthenia: state of the art and future directions. Semin Thromb Hemost. 2013;39(6):642–655. doi:10.1055/s-0033-1353393
  • Sherer DM, Lerner R. Glanzmann’s thrombasthenia in pregnancy: a case and review of the literature. Am J Perinatol. 1999;16(6):297–301. doi:10.1055/s-2007-993875
  • Boval B, Bellucci S, Boyer-Neumann C. Glanzmann’s thrombasthenia and pregnancy: clinical observations and management of four affected women Congress of the International Society of Thrombosis and Hemostasis. Thromb Haemost. 2001;P1154.
  • Punt MC, Schuitema PCE, Bloemenkamp KWM, Kremer Hovinga ICL, van Galen KPM. Menstrual and obstetrical bleeding in women with inherited platelet receptor defects-A systematic review. Haemophilia. 2020;26(2):216–227. doi:10.1111/hae.13927
  • Orsini S, Noris P, Bury L, et al. Bleeding risk of surgery and its prevention in patients with inherited platelet disorders. Haematologica. 2017;102(7):1192–1203. doi:10.3324/haematol.2016.160754
  • Poon MC, d’Oiron R, Zotz RB, et al. The international, prospective Glanzmann thrombasthenia registry: treatment and outcomes in surgical intervention. Haematologica. 2015;100(8):1038–1044. doi:10.3324/haematol.2014.121384
  • Nordisk N, Inc. NovoSeven® RT, coagulation factor VIIa (Recombinant) [package insert]. Plainsboro, NJ; 2019.
  • Santoro C, Rago A, Biondo F, et al. Prevalence of allo-immunization anti-HLA and anti-integrin αIIbβ3 in Glanzmann thromboasthenia patients. Haemophilia. 2010;16(5):805–812. doi:10.1111/j.1365-2516.2010.02230.x
  • Laurian Y, Tisseron-Maury B, Bibi Triki T, Kaplan C, Gaudelus J. Red blood cell transfusion in patients with type 1 Glanzmann’s thrombasthenia. J Thromb Haemost. 2005;3(10):2346–2347. doi:10.1111/j.1538-7836.2005.01579.x
  • Vivier M, Treisser A, Naett M, et al. [Glanzmann’s thrombasthenia and pregnancy. Contribution of plasma exchange before scheduled cesarean section]. J Gynecol Obstet Biol Reprod. 1989;18(4):507–513. [French].
  • Winkelhorst D, Murphy MF, Greinacher A, et al. Antenatal management in fetal and neonatal alloimmune thrombocytopenia: a systematic review. Blood. 2017;129(11):1538–1547. doi:10.1182/blood-2016-10-739656
  • Rayment R, Brunskill SJ, Soothill PW, Roberts DJ, Bussel JB, Murphy MF. Antenatal interventions for fetomaternal alloimmune thrombocytopenia. Cochrane Database Syst Rev. 2011;5:CD004226. doi:10.1002/14651858.CD004226.pub3
  • Poon MC. The Use of recombinant activated factor VII in patients with Glanzmann’s thrombasthenia. Thromb Haemost. 2021;121(3):332–340. doi:10.1055/s-0040-1718373
  • Browning L, Dogra S, Bourbonnais J The use of recombinant factor VIIa use in a patient with Glanzmann’s Thrombasthenia and diffuse alveolar hemorrhage. Poster Presentation at Congress of Society of Critical Care Medicine; 2010; USA.
  • Wertz D, Boveroux P, Péters P, Lenelle J, Franssen C. Surgical resection of a sphenoid wing meningioma in a patient with Glanzmann thrombasthenia. Acta Anaesthesiol Belg. 2011;62(2):83–86.
  • Phillips R, Richards M. Venous thrombosis in Glanzmann’s thrombasthenia. Haemophilia. 2007;13(6):758–759. doi:10.1111/j.1365-2516.2007.01555.x
  • Bellucci S, Damaj G, Boval B, et al. Bone marrow transplantation in severe Glanzmann’s thrombasthenia with antiplatelet alloimmunization. Bone Marrow Transplant. 2000;25(3):327–330. doi:10.1038/sj.bmt.1702139
  • Bellucci S, Devergie A, Gluckman E, et al. Complete correction of Glanzmann’s thrombasthenia by allogeneic bone-marrow transplantation. Br J Haematol. 1985;59(4):635–641. doi:10.1111/j.1365-2141.1985.tb07358.x
  • Flood VH, Johnson FL, Boshkov LK, et al. Sustained engraftment post bone marrow transplant despite anti-platelet antibodies in Glanzmann thrombasthenia. Pediatr Blood Cancer. 2005;45(7):971–975. doi:10.1002/pbc.20365
  • Ishaqi MK, El-Hayek M, Gassas A, et al. Allogeneic stem cell transplantation for Glanzmann thrombasthenia. Pediatr Blood Cancer. 2009;52(5):682–683. doi:10.1002/pbc.21888
  • Kitko CL, Levine JE, Matthews DC, Carpenter PA. Successful unrelated donor cord blood transplantation for Glanzmann’s thrombasthenia. Pediatr Transplant. 2011;15(3):e42–6. doi:10.1111/j.1399-3046.2009.01251.x
  • Wiegering V, Sauer K, Winkler B, Eyrich M, Schlegel PG. Indication for allogeneic stem cell transplantation in Glanzmann’s thrombasthenia. Hamostaseologie. 2013;33(4):305–312. doi:10.5482/HAMO-12-08-0014
  • Ramzi M, Dehghani M, Haghighat S, Nejad HH. Stem cell transplant in severe Glanzmann thrombasthenia in an adult patient. Exp Clin Transplant. 2016;14(6):688–690. doi:10.6002/ect.2014.0165
  • Fang J, Jensen ES, Boudreaux MK, et al. Platelet gene therapy improves hemostatic function for integrin alphaIIbbeta3-deficient dogs. Proc Natl Acad Sci U S A. 2011;108(23):9583–9588. doi:10.1073/pnas.1016394108
  • Sullivan SK, Mills JA, Koukouritaki SB, et al. High-level transgene expression in induced pluripotent stem cell-derived megakaryocytes: correction of Glanzmann thrombasthenia. Blood. 2014;123(5):753–757. doi:10.1182/blood-2013-10-530725