Bleeding Phenotype of Glanzmann Thrombasthenia (GT) and Treatment Outcomes in Over One Hundred Patients: A Two-Center Experience in North Pakistan.

Background: Glanzmann thrombasthenia (GT) is a rare disease with an autosomal recessive inheritance pattern. This disorder is not so uncommonly encountered in routine clinical practice and laboratory settings in Pakistan let alone in the rest of the world. To describe the bleeding phenotype of GT and treatment outcomes in over one hundred patients in north Pakistan.

Oral invasive procedures in Glanzmann thrombasthenia: a retrospective observational study.

Background: Glanzmann thrombasthenia (GT) is a very rare autosomal inherited bleeding disease affecting megakaryocyte lineage with impacts on oral health such as gingival bleeding, which requires specific management protocols. Very few clinical cases have been published in the dental and hematologic literature.

Objectives: This study focuses on a series of 21 patients affected specifically by GT and their hemorrhagic prophylaxis management with the use of recombinant activated factor VII (rFVIIa) for dental extractions and full-mouth debridement.

Efficacy and safety of recombinant activated factor VII in Glanzmann thrombasthenia: A systematic literature review.

Background: Platelet transfusion is considered the standard treatment for preventing or controlling severe haemorrhage in Glanzmann thrombasthenia (GT). However, platelet transfusion can have detrimental effects, including the production of anti-GPIIb/IIIa isoantibodies or anti-HLA antibodies (Ab) and platelet transfusion refractoriness. Recombinant activated factor VII (rFVIIa) has been proposed as an alternative treatment to platelet transfusion.

The impact of oral health promotion on the quality of life of children with bleeding disorders: fighting misconceptions.

Background: Understanding the disease-specific risks and patient-related barriers of children with bleeding disorders is necessary for primary oral health promotion. Our goal was to assess the oral health status and the impact of oral health promotion among patients with bleeding disorders.

Research Design And Methods: At baseline, 70 patients with inherited and acquired bleeding disorders had a complete intraoral examination, completed the oral health-related quality of life (OHRQoL) questionnaires, and an oral health education was given.

One day at a time: Life with Glanzmann thrombasthenia - Qualitative results from the GT 360 study.

Introduction: Glanzmann thrombasthenia (GT) is a platelet function disorder. Symptoms include bruising and bleeding, which may be severe and life-threatening. The day-to-day experiences of those affected remain poorly documented.

Bleeding and quality of life in people with Glanzmann thrombasthenia-insights from the Glanzmann's 360 study.

Background: Glanzmann thrombasthenia (GT) is a rare platelet function disorder that results in severe bleeding. We assessed clinical symptoms and psychological parameters to identify the unmet needs associated with GT.

Objectives: Glanzmann's 360 is a mixed-methods study designed to give a contemporary snapshot of the impact of living with GT.

Dental Management of Seven-Year-Old Child With Glanzmann Thrombasthenia: A Case Report.

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.

Management of Abdominal Aortic Aneurysm Surgery in Glanzmann's Thrombasthenia Patients with Anti-GPIIb-IIIa Antibodies: A Case Report.

Glanzmann's thrombasthenia (GT) is a rare autosomal recessive disorder of platelet function. The frequent occurrence of alloimmunization due to repeated platelet transfusions is the major complication of the disease. Achieving hemostasis in these patients with anti-GPIIb-IIIa antibodies during surgical procedures is a significant challenge due to the high risk of bleeding.

Molecular dynamics simulations involving different β-propeller mutations reported in Swiss and French patients correlate with their disease phenotypes.

Integrin αIIbβ3 is the predominant receptor for fibrinogen which mediates platelet aggregation, an important step in hemostasis and thrombosis. Several mutations have been reported in the genes encoding αIIb and β3 subunits among patients with Glanzmann thrombasthenia, of which 177 are in the β-propeller domain. The two subunits form a heterodimer at the interface between β-propeller and β-I domains of αIIb and β3, respectively with their stability critical for intracellular trafficking, surface expression, and ligand binding.

A bispecific antibody approach for the potential prophylactic treatment of inherited bleeding disorders.

Inherited bleeding disorders such as Glanzmann thrombasthenia (GT) lack prophylactic treatment options. As a result, serious bleeding episodes are treated acutely with blood product transfusions or frequent, repeated intravenous administration of recombinant activated coagulation factor VII (rFVIIa). Here we describe HMB-001, a bispecific antibody designed to bind and accumulate endogenous FVIIa and deliver it to sites of vascular injury by targeting it to the TREM (triggering receptor expressed on myeloid cells)-like transcript-1 (TLT-1) receptor that is selectively expressed on activated platelets.

A rare case of glanzmann thrombasthenia with concomitant factor VII deficiency.

Glanzmann thrombasthenia and clotting factor VII deficiency are rare autosomal recessive bleeding disorders. But the occurrence of both in the same person is an extremely rare phenomenon. Here, we present the case of a young female from Sindh, Pakistan that got diagnosed with Glanzmann thrombasthenia and concomitant moderate factor VII deficiency, a combination not previously reported in the country.

Glanzmann's thrombasthenia: A nightmare for hernia surgeons.

Glanzmann's thrombasthenia is a rare inherited disorder affecting one in one million. It is characterised by a lack of platelet aggregation due to a defect in the platelet membrane receptor complex (αIIb/βIIIa), which mediates the aggregation of platelets at the site of vessel injury. We report here the first case of successful perioperative haemostatic management of a male patient with Glanzmann's thrombasthenia, who underwent an elective laparoscopic hernia repair.

Catheter Intervention in a Patient with Intracranial Aneurysms and Glanzmann Thrombasthenia Caused by a Novel Homozygous Likely Pathogenic Variant in the Gene.

Glanzmann Thrombasthenia (GT) is an inherited platelet disorder caused by defects in platelet integrin αβ (GPIIb/IIIa), which is a platelet receptor essential for the binding of fibrinogen. This can lead to severe bleeding, especially after trauma or perioperatively, and to microcytic anemia because of chronic blood loss. We report on a 40-year-old female patient with extensive bleeding complications and platelet antibody formation who presented in Homburg and Freiburg for extensive platelet function analyses and molecular genetic analyses.

[Pedigree Analysis and Molecular Mechanism Study of Hereditary Glanzmann Thrombasthenia Caused by Compound Heterozygous Mutation of the ITGA2B Gene].

The phenotype and genotype of a pedigree with Glanzmann thrombasthenia caused by compound heterozygous mutation in the ITGA2B gene and its molecular pathogenesis were explored. The platelet aggregation rate of the proband and his family was detected by using a platelet aggregation test with adenosine diphosphate, collagen, epinephrine, arachidonic acid, and ristocetin. The expression levels of CD41 (αⅡb), CD61 (β3), and CD42b (GPⅠb) on the platelet surface was detected by flow cytometry.

Targeting tissue factor pathway inhibitor with concizumab to improve hemostasis in patients with Glanzmann thrombasthenia: an in vitro study.

Background: Glanzmann thrombasthenia (GT) is caused by an inherited defect of platelet αβ integrin. Concizumab, a monoclonal antibody specific for tissue factor pathway inhibitor, abolishes its anticoagulant effect.

Objectives: To evaluate the in vitro ability of concizumab to improve hemostasis in GT.

Pregnancy and childbirth in patients with Glanzmann Thrombasthenia.

Glanzmann thrombasthenia (GT) is a rare inherited platelet bleeding disorder caused by a quantitative and/or qualitative defect of the αIIbβ3 integrin. Pregnancy and delivery pose special challenges as they entail increased risks of both maternal and foetal bleeding that may be life-threatening. Multidisciplinary management throughout the preconception, intrapartum and peripartum periods is vital to optimize pregnancy outcomes.

Glanzmann Thrombasthenia 10 Years Later: Progress Made and Future Directions.

Glanzmann thrombasthenia (GT) is the most common inherited platelet disorder (IPD) with mucocutaneous bleeding and a failure of platelets to aggregate when stimulated. The molecular cause is insufficient or defective αIIbβ3, an integrin encoded by the and genes. On activation αIIbβ3 undergoes conformational changes and binds fibrinogen (Fg) and other proteins to join platelets in the aggregate.

Frequency, clinical, and laboratory findings of platelet secretion disorders in patients referred to the specialized coagulation laboratory of the Iranian Blood Transfusion Organization.

Objectives: Platelet secretion disorders (PSDs) are a subgroup of platelet function disorders (PFDs) caused by defects in the content or release of platelet granules. These patients have a variable degree of mucocutaneous bleeding tendency. The diagnostic facilities of PSDs are imitated in Iran, even in specialized coagulation laboratories.