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glanzmann thrombasthenia: Managing Gingival Bleeding Triggered by Tooth Eruption—A Rare Case Report

Case Reports in Clinical Medicine 2024年第8期13卷 283-291页

作者： Nahla A. Abdulrahman Motaz A. Atia Nada A. Abdelwahab Malaz M. Mustafa Department of Pediatric Dentistry University of Khartoum Khartoum Sudan Department of Pediatric Dentistry National Ribat University Khartoum Sudan Department of Pediatric Dentistry and Orthodontic Sciences King Khalid University Abha Saudi Arabia

glanzmann thrombasthenia (GT) is a rare and often underdiagnosed congenital bleeding disorder caused by mutations in the genes encoding glycoproteins GPIIb or GPIIIa, resulting in platelet dysfunction. Inherited in an autosomal recessive manner, GT is characterized by the inability of platelets to aggregate. Clinically, it presents with mucocutaneous bleeding, such as easy and extensive bruising, severe epistaxis, menorrhagia, gingival bleeding, postpartum hemorrhage, and unexpected bleeding following procedures, despite a normal platelet count. We present a case involving a 6-year-old male patient who experienced spontaneous gingival bleeding for the past 4 weeks due to the eruption of his first permanent molars. The bleeding was particularly severe at night, disrupting the child’s sleep. The patient had been diagnosed with GT at the age of 16 months. Dental management was pursued, and the use of tranexamic acid mouthwash, combined with meticulous oral hygiene, resulted in an excellent response.

关键词： glanzmann thrombasthenia Bleeding Tranexamic Acid Epistaxis Platelet Aggregation

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Identification of compound heterozygous mutations in the ITGA2B gene in a Chinese patient with glanzmann thrombasthenia

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Chinese Medical Journal 2010年第11期123卷 1397-1401页

作者： ZHENG Jia-yong JIN Yan-hui ZHU Yong-lin JIN Pei-pei ZHANG De-ting JIN Zi-bing Department of Laboratory Medicine Third People's Hospital ofWenzhou Wenzhou Zhejiang 325000 China Wenzhou Third Clinical Institute of Wenzhou Medical College Wenzhou Zhejiang 325200 China Diagnosis Center of Clinical Laboratory First Affiliated Hospitalof Wenzhou Wenzhou Zhejiang 325000 China Department of Clinical Transfusion Ruijin Hospital MedicalCollege of Shanghai Jiao Tong University Shanghai 200025China Eye Ear Nose and Throat Hospital of Fudan University Shanghai200031 China

Background glanzmann thrombasthenia （GT） is an autosomal recessive bleeding disorder characterized by the tendency to hemorrhage and the inability of platelets to aggregate in response to agonists. GT is caused by a defect of the platelet glycoprotein lib/Ilia complex. The objective of this study was to describe the clinical features and the genetic cause of GT in a 6-year-old girl from south China. Methods A three-generation family was studied. The proband patient aged 6 years and her parents undertook examinations of platelet counts, blood film, bleeding time, platelet aggregation, and flow cytometry. All coding exons of the ITGA2B and ITGB3 genes were amplified by polymerase chain reaction （PCR）, and direct sequencing was performed for mutational screening on the patient and normal controls consisted of 52 healthy blood donors. Reverse transcription PCR was conducted to test for exon skipping. Results The proposita patient showed dispersing platelets, prolonged bleeding time, and severely reduced platelet aggregation in response to the physiological agonists adenosine diphosphate （ADP）, epinephrine, collagen, and ristocetin. Flow cytometric measurements showed that the contents of allb and 133 were significantly decreased. Sequencing results demonstrated two different types of heterozygous mutations existed in the allb gene （c.2930delG and IVS15-1delG）. The compound mutations were also confirmed in the patient＇s mother and father separately. Conclusions The allbβ3 deficiency of the proband was caused by two compound ITGA2B mutations, which were first reported in Chinese GT patients. The IVS15-1delG was first confirmed to cause an exon skipping.

关键词： glanzmann thrombasthenia integrin alIIbβ mutation, exon skipping hemorrhage

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Vaginal Delivery in a Primipara with glanzmann thrombasthenia

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Maternal-Fetal Medicine 2023年第3期5卷 192-194页

作者： Fangcan Sun Jiahui Wang Youguo Chen Jie Yin Bing Han Department of Obstetrics and Gynecology The First Affiliated Hospital of Soochow UniversitySuzhou 215006China Department of Hematology The First Affiliated Hospital of Soochow UniversitySuzhou 215006China

To editor:glanzmann thrombasthenia(GT)is a rare autosomal recessive bleeding disorder that is characterized by a quantitative and/or qualitative defect in the platelet integrinαIIbβ3(previously known as glycoprotein(GP)IIb/IIIa),the major platelet receptor of ***αIIbβ3 can result in the absence of platelet *** and delivery in women with GT can present specific challenges as there is a significant risk of both maternal and fetal bleeding.

关键词： Obstetrical forceps glanzmann thrombasthenia Multidisciplinary management Pregnancy rFVIIa Vaginal delivery

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