Glanzmann's thrombasthenia due to a novel mutation in ITGA2B gene

Ibrahim Alharbi; Mariyyah A. Algethami; Norah A. Almalki

doi:10.24911/IJMDC.51-1568613172

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Case Report
Online Published: 29 Nov 2019

IJMDC. 2019; 3(12): 1184-1186

doi: 10.24911/IJMDC.51-1568613172

Glanzmann's thrombasthenia due to a novel mutation in ITGA2B gene

Ibrahim Alharbi, Mariyyah A. Algethami, Norah A. Almalki.

Abstract
Background: Glanzmann's thrombasthenia (GT) is a rare congenital bleeding disorder clinically presented with mucocutaneous bleeding associated with trauma and/or surgery. Patients with GT have normal platelet count but prolonged bleeding time. GT is been reported to be associated with mutations in the genes, which encode for glycoprotein IIb/IIIa (GPIIb/IIIa). Case presentation: A 2-year-old male patient with a history of recurrent nasal bleeding for 1 year was presented to us. Bleeding time was found prolonged (9 minutes), while activated partial thromboplastin time was 37 seconds, prothrombin time (PT) was 13.5 seconds and remained within the normal range. Platelet aggregation assays were defective when using adenosine diphosphate, adrenaline, collagen, and arachidonic acid. Genetic analysis found a novel likely pathogenic homozygous mutation c.985G > T in the ITGA2B gene. The subjects were controlled by using 1 g of aminocaproic acid twice daily for 10 days, which improved the bleeding time was improved to 6 minutes. Conclusion: The present study reported a child (2 years) with novel pathogenic mutation c.985G > T in the ITGA2B gene associated with GT and reviewed its clinical management.

Key words: Glanzmann's thrombasthenia, mutation, bleeding, platelets aggregation.

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Pubmed Style

Alharbi I, Algethami MA, Almalki NA. Glanzmann's thrombasthenia due to a novel mutation in ITGA2B gene. IJMDC. 2019; 3(12): 1184-1186. doi:10.24911/IJMDC.51-1568613172

Web Style

Alharbi I, Algethami MA, Almalki NA. Glanzmann's thrombasthenia due to a novel mutation in ITGA2B gene. https://www.ijmdc.com/?mno=65688 [Access: June 22, 2026]. doi:10.24911/IJMDC.51-1568613172

AMA (American Medical Association) Style

Alharbi I, Algethami MA, Almalki NA. Glanzmann's thrombasthenia due to a novel mutation in ITGA2B gene. IJMDC. 2019; 3(12): 1184-1186. doi:10.24911/IJMDC.51-1568613172

Vancouver/ICMJE Style

Alharbi I, Algethami MA, Almalki NA. Glanzmann's thrombasthenia due to a novel mutation in ITGA2B gene. IJMDC. (2019), [cited June 22, 2026]; 3(12): 1184-1186. doi:10.24911/IJMDC.51-1568613172

Harvard Style

Alharbi, I., Algethami, . M. A. & Almalki, . N. A. (2019) Glanzmann's thrombasthenia due to a novel mutation in ITGA2B gene. IJMDC, 3 (12), 1184-1186. doi:10.24911/IJMDC.51-1568613172

Turabian Style

Alharbi, Ibrahim, Mariyyah A. Algethami, and Norah A. Almalki. 2019. Glanzmann's thrombasthenia due to a novel mutation in ITGA2B gene. International Journal of Medicine in Developing Countries, 3 (12), 1184-1186. doi:10.24911/IJMDC.51-1568613172

Chicago Style

Alharbi, Ibrahim, Mariyyah A. Algethami, and Norah A. Almalki. "Glanzmann's thrombasthenia due to a novel mutation in ITGA2B gene." International Journal of Medicine in Developing Countries 3 (2019), 1184-1186. doi:10.24911/IJMDC.51-1568613172

MLA (The Modern Language Association) Style

Alharbi, Ibrahim, Mariyyah A. Algethami, and Norah A. Almalki. "Glanzmann's thrombasthenia due to a novel mutation in ITGA2B gene." International Journal of Medicine in Developing Countries 3.12 (2019), 1184-1186. Print. doi:10.24911/IJMDC.51-1568613172

APA (American Psychological Association) Style

Alharbi, I., Algethami, . M. A. & Almalki, . N. A. (2019) Glanzmann's thrombasthenia due to a novel mutation in ITGA2B gene. International Journal of Medicine in Developing Countries, 3 (12), 1184-1186. doi:10.24911/IJMDC.51-1568613172

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