Syncope as an atypical initial presentation of Glanzmann’s thrombasthenia in an adolescent female: a case complicated by anti-Jka–mediated delayed haemolytic transfusion reaction
DOI:
https://doi.org/10.18203/2349-3291.ijcp20260833Keywords:
Glanzmann’s thrombasthenia, Menorrhagia, Iron- deficiency anaemia, Syncope, Alloimmunization, Anti-Jka, Delayed haemolytic transfusion reactionAbstract
Adolescents with Glanzmanns thrombasthenia (GT), a rare inherited disorder of platelet function characterized by defective platelet aggregation despite normal platelet counts, typically present with mucocutaneous bleeding; however, atypical manifestations may cause a delay in diagnosis. Case report describe a 15-year-old girl who had a syncopal episode due to severe iron-deficiency anaemia brought on by persistent menorrhagia. The initial coagulation levels were normal, prompting additional testing, and platelet aggregation tests confirmed GT. She needed coordinated hematology–gynecology care, anaemia correction, and menstrual bleeding stabilization; however, repeated transfusions caused a delayed hemolytic transfusion reaction because of the development of anti-Jka alloantibodies. Iron supplementation, antifibrinolytics, and customized menstrual control were used to treat the patient; alloimmunization required prolonged antigen matching for subsequent transfusions. She showed a good clinical recovery with no recurrence of syncope, highlighting the significance of early diagnosis, prevention of transfusion-related complications, and a multidisciplinary strategy for the best results, as well as the necessity of considering GT in adolescents with unexplained anaemia and normal coagulation profiles, especially in populations with high consanguinity.
References
Mathews N, Rivard GE, Bonnefoy A. Glanzmann Thrombasthenia: Perspectives from Clinical Practice on Accurate Diagnosis and Optimal Treatment Strategies. J Blood Med. 2021;12:449-63.
Tarawah AM, Owaidah TM, Tarawah RA, Balelah S, Zolaly MA, Alamri AA, et el. High prevalence of a rare bleeding disorder: a report from Glanzmann thrombasthenia registry of Al-madinah, Saudi Arabia. Blood. 2023;142:396.
Tarawah RA, Tarawah AM. Pregnancy and delivery outcome among ladies with Glanzmann thrombasthenia: a report from Glanzmann thrombasthenia registry of Al-Madinah, Saudi Arabia. Blood. 2023;142:3968.
Rokhgireh S, Mehdizadehkashi A, Chaichian S, Faranoush M, Salmanpour F, Samieefar N, et el. Monozygotic twin cases of endometriosis with Glanzmann thrombasthenia: a case report and review of literature. Orphanet J Rare Dis. 2023 ;18(1):87.
Faraz S, Nikhat F, Hayel Suleiman, Beshtawi H, Malik SA, Yahya Hashim K. Glanzmann Thrombasthenia in a Newborn Due to a Rare Homozygous Missense Mutation. Cureus. 2024 ;16(12):e75291.
Khair K, Fletcher S, Boyton M, Holland M. Bleeding and quality of life in people with Glanzmann thrombasthenia-insights from the Glanzmanns 360 study. Res Pract Thromb MHaemost. 2024;8(7):e102586.
Solh T, Botsford A, Solh M. Glanzmanns thrombasthenia: pathogenesis, diagnosis, and current and emerging treatment options. J Blood Med. 2015;6:219-27.
Poon MC, Demers C, Jobin F, Wu JW. Recombinant factor VIIa is effective for bleeding and surgery in patients with Glanzmann thrombasthenia. Blood. 1999;94(11):3951-3.
Khalifa GL, El-Sayed AA, Elmasry Z, Elsayh KI, Atwa ZT, Morgan DS, et el. Epidemiological and clinical characteristics of children and young adults with Glanzmann’s thrombasthenia in upper Egypt: a multicenter cross-sectional study. Ann Hematol. 2025;104(3):1961-73.
Elmahmoudi H, Achour M, Belhedi N, Ben Neji H, Zahra K, Meddeb B, et el. The Glanzmanns Thrombasthenia in Tunisia: A Cohort Study. J Hematol. 2017;6(3):44-8.
Krause KA, Graham BC. Glanzmann thrombasthenia. StatPearls Publishing. 2023. Available at: https://www.ncbi.nlm.nih.gov/books/NBK562248/. Accessed on 19 January 2026.
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.
Duncan A, Kellum A, Peltier S, Cooper DL, Saad H. Disease Burden in Patients with Glanzmanns Thrombasthenia: Perspectives from the Glanzmanns Thrombasthenia Patient/Caregiver Questionnaire. J Blood Med. 2020;11:289-95.
Peyvandi F, Auerswald G, Austin SK, Liesner R, Kavakli K, Román MT, et el. Diagnosis, therapeutic advances, and key recommendations for the management of factor X deficiency. Blood Rev. 2021;50:100833.
Shagufta NA. Glanzmann’s thrombasthenia–a case report. Sci J Med Sci Biol. 2024;3:102-7.
Kumbhar SG, Swami SS, Khapra K. Glanzmann’s thrombasthenia: a rare case presented with recurrent nasal bleeding. Int J Contemp Pediatr. 2023;10(6): 979-82.
Usman M, Khan M, Shahbaz N, Zaffar L, Tariq H, Iftikhar R, et el. Bleeding Phenotype of Glanzmann Thrombasthenia (GT) and Treatment Outcomes in Over One Hundred Patients: A Two-Center Experience in North Pakistan. Cureus. 2024 ;16(11):e73724.
George JN, Caen JP, Nurden AT. Glanzmanns thrombasthenia: the spectrum of clinical disease. Blood. 1990;75(7):1383-95.
Fiore M, Giraudet JS, Alessi MC, Falaise C, Desprez D, d’Oiron R, et el. Emergency management of patients with Glanzmann thrombasthenia: consensus recommendations from the French reference center for inherited platelet disorders. Orphanet J Rare Dis. 2023;18(1):171.
Nurden P, Stritt S, Favier R, Nurden AT. Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagnostic strategy. Haematologica. 2020;106(2):337-46.
Yang L, Wang H, Jiang Y, Chen J, Zhao H, Feng J. A Rare Case of Hemolytic Transfusion Reaction in a Premature Infant Caused by a Passive Anti-Jka Antibody. Lab Med. 2023;54(3):324-6.
Deb J, Kaur D, Sil S, Bava D, Mohan KA, Jain A, et el. Delayed haemolytic transfusion reaction due to Kidd antibodies. Transfus Clin Biol. 2022 ;29(3):269-72.
Vucelic D, Savic N, Djordjevic R. Delayed hemolytic transfusion reaction due to anti-Jk(a). Acta Chir Iugosl. 2005;52(3):111-5.
Barbaryan A, Iyinagoro C, Nwankwo N, Ali AM, Saba R, Kwatra SG, et el. Ibuprofen-induced hemolytic anemia. Case Rep Hematol. 2013;2013:142865.
Sanford-Driscoll M, Knodel LC. Induction of hemolytic anemia by nonsteroidal antiinflammatory drugs. Drug Intell Clin Pharm. 1986;20(12):925-34.
Maquet J, Lafaurie M, Michel M, Lapeyre-Mestre M, Moulis G. Drug-induced immunehemolytic anemia: detection of new signals and risk assessment in a nationwide cohort study. Blood Adv. 2024;8(3):817-26.
Law IP, Wickman CJ, Harrison BR. Coombs-positive hemolytic anemia and ibuprofen. South Med J. 1979;72(6):707-10.
Hendrickson JE, Fasano RM. Management of hemolytic transfusion reactions. Hematology. 2021 ;2021(1):704-9.
De Montalembert M, Dumont MD, Heilbronner C, Brousse V, Charrara O, Pellegrino B, et el. Delayed hemolytic transfusion reaction in children with sickle cell disease. haematologica. 2011;96(6):801-4.
Saleh M, Mallipeddi VP, Ali A. Delayed hemolytic transfusion reaction in a sickle cell disease patient: A case report. Cureus. 2020;12(12):e12345.
Poon MC, D’Oiron R, Baby S, Zotz RB, Di Minno G. The Glanzmann Thrombasthenia Registry: safety of platelet therapy in patients with Glanzmann thrombasthenia and changes in alloimmunization status. Haematologica. 2023;108(10):2855-63.
Saultier P, Grino M, Falaise C, Voisin S, Lavenu-Bombled C, Ibrahim-Kosta M, et el. Efficacy and safety of recombinant activated factor VII in Glanzmann thrombasthenia: A systematic literature review. Haemophilia. 2025;31(1):7-15.
Fang J, Hodivala-Dilke K, Johnson BD, Du LM, Hynes RO, White GC, et al. Therapeutic expression of the platelet-specific integrin, alphaIIbbeta3, in a murine model for Glanzmann thrombasthenia. Blood. 2005;106(8):2671-9.
Lu M, Yang X. Levonorgestrel-releasing intrauterine system for treatment of heavy menstrual bleeding in adolescents with Glanzmanns Thrombasthenia: illustrated case series. BMC Womens Health. 2018;18(1):45.
Huguelet PS, Laurin JL, Thornhill D, Moyer G. Use of the Levonorgestrel Intrauterine System to Treat Heavy Menstrual Bleeding in Adolescents and Young Adults with Inherited Bleeding Disorders and Ehlers-Danlos Syndrome. J Pediatr Adolesc Gynecol. 2022;35(2):147-52.
Oliveira JA, Eskandar K, Chagas J, do Nascimento LLO, Ribeiro DD, Rocha ALL, et el. Heavy menstrual bleeding in women with inherited bleeding disorders in use of LNG-IUS: A systematic review and single-arm meta-analysis. Contraception. 2024;135:110450.
Mandal M, Sarkar S, Paul S, Samantaray SR. Difficult management of abnormal uterinebleeding in Glanzmann thrombasthenia. BMJ Case Rep. 2025 ;18(2):e262429.
Tarawah A, Owaidah T, Al-Mulla N, Khanani MF, Elhazmi J, Albagshi M, et el. Management of Glanzmanns thrombasthenia–guidelines based on an expert panel consensus from gulf cooperation council countries. J Appl Hematol. 2019;10(1):1-9.
Fiore M, Giraudet JS, Alessi MC, Falaise C, Desprez D, DOiron R, et el. Emergency management of patients with Glanzmann thrombasthenia: consensus recommendations from the French reference center for inherited platelet disorders. Orphanet J Rare Dis. 2023;18(1):171.
Khair K, Fletcher S, Boyton M, Holland M. Bleeding and quality of life in people with Glanzmann thrombasthenia-insights from the Glanzmanns 360 study. Res Pract Thromb Haemost. 2024;8(7):102586.
Downloads
Published
How to Cite
Issue
Section
