Articles & Papers

Glanzmann’s thrombasthenia (GT) is an inherited platelet function disorder that may manifest with significant bleeding symptoms; in women and girls (W&Gs), heavy menstrual bleeding (HMB) is very common. GT in pregnancy is associated with an increased risk of postpartum haemorrhage (PPH).

Glanzmann thrombasthenia (GT) is a rare inherited disease characterized by mucocutaneous bleeding due to the abnormalities in quantity or quality of platelet membrane GP IIb (CD41) or GP IIIa (CD61). GP IIb and GP IIIa are encoded by the ITGA2B and ITGB3 genes, respectively. Herein, we described a 7-year-old Chinese boy of the consanguineous couple who was diagnosed with GT based on the typical clinical manifestations, absence of blood clot retraction and the reduced expression of CD41 and CD61 in platelets. A homozygous silent variant c.1431C > T (p. G477=) of the ITGB3 gene was identified by the Whole-exome sequencing and confirmed by Sanger sequencing. The variant was predicted to affect the splicing. RT-PCR and sequencing revealed that the variant caused a deletion of 95 base pairs and frameshift, and subsequently created a premature stop codon in exon 10 of ITGB3 (p. G477Afs*30). It was indicated that the variant c.1431C > T (p. G477=) of ITGB3 was the cause for Glanzmann thrombasthenia. Our findings expanded the mutation spectrum and provided the information for the genetic counseling, prenatal diagnosis and preimplantation genetic testing (PGT).

Glanzmann thrombasthenia (GT) is a genetic bleeding disorder characterised by severely reduced/absent platelet aggregation in response to multiple physiological agonists. The severity of bleeding in GT varies markedly, as does the emergency situations and complications encountered in patients. A number of emergency situations may occur in the context of GT, including spontaneous or provoked bleeding, such as surgery or childbirth. While general management principles apply in each of these settings, specific considerations are essential for the management of GT to avoid escalating minor bleeding events. These recommendations have been developed from a literature review and consensus from experts of the French Network for Inherited Platelet Disorders, the French Society of Emergency Medicine, representatives of patients’ associations, and Orphanet to aid decision making and optimise clinical care by non-GT expert health professionals who encounter emergency situations in patients with GT.

Glanzmann thrombasthenia (GT) is a rare autosomal recessive inherited platelet disorder occurring frequently in populations with high incidence of consanguineous marriages. GT is characterized by quantitative and/or qualitative defect of the platelet αIIbβ3 (GPIIb/IIIa) receptor caused by pathogenic variants of the encoding genes: ITGA2B and ITGB3. Patients present with a moderate to severe bleeding tendency with normal platelet count. Platelets show reduced/absent aggregation for all agonists except ristocetin in light transmission aggregometry and reduced/absent αIIbβ3 expression in flow cytometry (FC). In this study, we investigated a cohort of 20 Pakistani patients and 2 families collected from the National Institute of Blood Disease, Karachi and Chughtai’s Lab, Lahore. Platelet aggregation studies, FC (platelet CD41, CD61, CD42a, CD42b) and direct sequencing of the candidate genes were performed. All patients showed altered platelet aggregation, but normal agglutination after stimulation with ristocetin. Absent/reduced αIIbβ3 receptor expression was present in the platelets of 16 patients, in 4 patients expression was borderline/normal. Candidate gene sequencing identified pathogenic/likely pathogenic variants in 15 patients. Seven variants are novel. One patient with absent receptor expression remained without genetic finding. 13 (86.7%) of 15 patients stated consanguinity reflected by homozygosity finding in 14 (93.3%) patients.

Introduction: Frequent and severe bleeding events (SBE) in patients with inherited qualitative platelet disorders Bernard-Soulier Syndrome (BSS) and Glanzmann Thrombasthenia (GT) can lead to secondary iron deficiency anemia (IDA). SBE are primarily treated with platelet transfusions or recombinant activated factor VII (rFVlla) infusions. The impact of IDA on bleeding management and disease outcomes is understudied.

Glanzmann thrombasthenia (GT) is a rare inherited platelet function disorder caused by a quantitative and/or qualitative defect of the α_IIbβ₃ integrin. Pregnancy and delivery are recognized risk periods for bleeding in women with GT. The newborn may also be affected by fetal and neonatal immune thrombocytopenia induced by the transplacental passage of maternal anti-α_IIbβ₃ antibodies, which can lead to severe hemorrhage and fetal loss. Pregnancy in women with GT thus requires a multidisciplinary approach, including prepregnancy counseling and a treatment plan for delivery for both the mother and child. In this article, we summarize the current knowledge on pregnancy in women with GT and describe how we manage this severe platelet disorder in our clinical practice.

Inherited platelet disorders cumulatively affect roughly 1:20,000 people worldwide. Glanzmann Thrombasthenia (GT) is among these due to defects in genes encoding integrin αIIbβ3 subunits that prevent platelet aggregation, leading to recurrent mucocutaneous bleeding episodes and increased risk of morbidity and mortality from gastrointestinal or intercranial hemorrhage. GT is commonly treated with platelet transfusion, although patients often experience immune-mediated destruction of donor platelets. Antifibrinolytic agents and rFVIIa are also used to treat uncontrolled bleeding but require frequent administration. Allogeneic bone marrow transplant (BMT) has been shown to correct the GT phenotype; however, BMT can cause graft vs host disease and excludes patients without a BMT match. Thus, an effective long-term treatment to control bleeding in human GT is essential.

Glanzmann thrombasthenia (GT) is a rare autosomal recessive bleeding disorder caused by a deficiency of the platelet integrin alpha IIb beta3, which is essential for platelet aggregation and hemostasis. This deficiency disrupts normal clot formation, leading to recurrent mucocutaneous bleeding episodes. The condition is associated with mutations in the ITGA2B or ITGB3 genes on chromosome 17, with these genetic changes altering the function or expression of the integrin. GT’s prevalence is approximately 1 in 1,000,000, but it is significantly higher in populations with high rates of consanguinity.

Diagnosing GT involves ruling out more common bleeding disorders through a comprehensive approach, including a complete blood count, coagulation studies, and von Willebrand factor assays. Definitive diagnosis requires advanced platelet function tests and genetic analysis. Treatment follows a tiered strategy: mild bleeding episodes are managed with local hemostatic measures, whereas severe bleeding may require platelet transfusions or recombinant activated clotting factor VIIa (rFVIIa).

Consanguineous marriages increase the risk of autosomal recessive disorders like GT because related couples are more likely to share and transmit the same gene variants. Research indicates that congenital anomalies are nearly twice as common among offspring of consanguineous unions. In populations with prevalent inbreeding, ancestral gene variants significantly influence the occurrence of these disorders. This case illustrates the impact of consanguinity, given that our patient exhibited symptoms such as bruising and gum bleeding shortly after birth rather than the typical presentation within the first year.

Glanzmann thrombasthenia (GT) is a rare autosomal recessive bleeding disorder affecting the megakaryocyte lineage and is associated mainly with mucocutaneous bleeding. We herein report a woman in her early 40s, with no known comorbidities, who presented with severe gingival bleeding and severe fatigue. Past history revealed recurrent gingival bleeding, bruising, and heavy menstrual bleeding. Platelet aggregation studies revealed normal aggregation. Finally, a diagnosis of GT with microcytic hypochromic anemia was established after ruling out all the other differential diagnoses. The patient was transfused with multiple units of packed cells (PCs), random donor platelets (RDPs), and single donor platelets (SDPs) and treated with intravenous (IV) and topical tranexamic acid. Our patient presented with a rare bleeding disorder very late in life. GT can be potentially life-threatening and is difficult to diagnose in the early stages. Therefore, it is imperative to highlight the importance of early diagnosis of this rare condition to provide supportive care for a good prognosis.

Glanzmann thrombasthenia (GT) is an uncommon bleeding disorder that causes bleeding under the skin. Issues with platelet membrane glycoprotein IIb/IIIa are the cause of it, which makes it simpler for platelets to adhere to one another and form a thrombus. Symptoms can range from mild bruising to severe hemorrhages. Dental management of children with GT was complex, necessitating a multi-disciplinary approach in a hospital setting. The case report aimed to document a GT case involving a seven-year-old Saudi girl under general anesthesia treatment.