1,574 results match your criteria Glanzmann Thrombasthenia


Glanzmann thrombasthenia: an uncommon cause of acute upper gastrointestinal bleeding.

Rev Esp Enferm Dig 2022 Jul 28. Epub 2022 Jul 28.

Gastroenterology, Hospital Universitario "Dr. José Eleuterio González", México.

The major function of platelets is to contribute to hemostasis. If an impairment in their production and/or function occurs, abnormal bleeding can develop. An 18-year-old male presented to our hospital after four episodes of hematemesis. Read More

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Association of autosomal-recessive-type distal renal tubular acidosis and Glanzmann thrombasthenia as a consequence of runs of homozygosity.

Clin Case Rep 2022 Jul 19;10(7):e6070. Epub 2022 Jul 19.

Department of Pediatrics Toho University Omori Medical Center Tokyo Japan.

We report the case of a Filipino girl with autosomal-recessive-type distal renal tubular acidosis and Glanzmann thrombasthenia caused by homozygous variants in the genes and within the long homozygous DNA region on chromosome 17q21.31. This haplotype may be retained among individuals of Filipino descent. Read More

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Description and Clinical Management of Patients With Glanzmann's Thrombasthenia in a University Hospital, a Referral Center Specialized in Hemostasis, in Bogotá, Colombia.

Cureus 2022 Jun 4;14(6):e25657. Epub 2022 Jun 4.

Hematology, San Jose Hospital - University Foundation of Health Sciences, Bogotá, COL.

Introduction Glanzmann's thrombasthenia (GT) is an autosomal recessive disorder of platelets caused by a deficiency in the glycoprotein IIb-IIIa. Bleeding from the skin, mucous membranes, and ecchymosis are symptoms manifested starting in early childhood. There may also be major bleeding conditions as a result of surgical procedures or trauma. Read More

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Utility of the ISTH bleeding assessment tool (BAT) in diagnosis of Glanzmann Thrombasthenia patients.

Pak J Med Sci 2022 Mar-Apr;38(4Part-II):791-795

Dr. Naghmana Mazher, M. Phil (Hematology). Pathology Department, Fatima Jinnah Medical University, Lahore, Pakistan.

Objectives: To assess the utility of ISTH-BAT (International Society on Thrombosis and Hemostasis- Bleeding Assessment Tool) in the diagnosis of Glanzmann Thrombasthenia (GT) in comparison to controls.

Methods: It was a case-control study carried out at The Children's Hospital, Lahore from January 2012 to May 2021. All patients from neonates to 18 years with a final diagnosis of GT were studied retrospectively. Read More

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September 2021

Skin Lesions Relevance as Early Diagnosis of Glanzmann Thrombasthenia: A Case Report.

Actas Dermosifiliogr 2021 Dec 16. Epub 2021 Dec 16.

Servicio de Dermatología, Hospital Universitario Son Espases, Palma, Islas Baleares, España.

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December 2021

Diagnostic workup of inherited platelet disorders.

Authors:
Bohyun Kim

Blood Res 2022 Apr;57(S1):11-19

Department of Laboratory Medicine, Soonchunhyang University Cheonan Hospital, Soonchunhyang University College of Medicine, Cheonan, Korea.

Inherited platelet disorders (IPDs) can cause mucocutaneous bleeding due to impaired primary hemostatic function of platelets, thrombocytopenia, or both. Recent advances in molecular technology can help identify many genes related to platelet biology, control the overall steps of megakaryopoiesis, and cause IPD. In this article, currently available laboratory tools for diagnosing IPDs with the characteristic laboratory features of each IPD are reviewed, and a general diagnostic approach for the evaluation of IPD patients is presented. Read More

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Iron deficiency anemia and bleeding management in pediatric patients with Bernard-Soulier syndrome and Glanzmann Thrombasthenia: A single-institution analysis.

Haemophilia 2022 Jul 12;28(4):633-641. Epub 2022 Apr 12.

Department of Pediatrics, Emory University, Atlanta, Georgia, USA.

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 (rFVIIa) infusions. The impact of IDA on bleeding management and disease outcomes is understudied. Read More

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Novel variants for Glanzmann thrombasthenia manifesting with purpura at birth.

Pediatr Int 2022 01;64(1):e15149

Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.

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January 2022

[Effects of the ITGA2B Nonsense Mutation (c.2659C > T, p.Q887X) on Platelet Function in a Mouse Model of Glanzmann's Thrombasthenia Generated with CRISPR/Cas9 Technology].

Zhongguo Shi Yan Xue Ye Xue Za Zhi 2022 Apr;30(2):559-564

Department of Hematology, Affiliated Hospital of Nantong University, Nantong, 226001, Jiangsu Province, China,E-mail:

Objective: To construct a mouse model of Glanzmann's thrombasthenia (GT) with ITGA2B c.2659 C>T (p.Q887X) nonsense mutation by CRISPR/Cas9 technology, and then further explore the expression and function of glycoprotein αIIbβ3 on the surface of platelet membrane. Read More

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Pregnancy and Delivery Management With Recombinant Factor VIIa in a Glanzmann Thrombasthenia Patient: A Case Report.

Cureus 2022 Feb 24;14(2):e22570. Epub 2022 Feb 24.

Internal Medicine, Fundación Universitaria Juan N. Corpas, Bogotá, COL.

The management of pregnancy and delivery in patients with Glanzmann thrombasthenia requires platelet transfusion and recombinant activated factor VII. We report two successful pregnancies in a single patient and propose a protocol for monitoring and treatment. The urgent need for controlled trials and other epidemiological studies is also underscored. Read More

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February 2022

How I manage pregnancy in women with Glanzmann thrombasthenia.

Blood 2022 04;139(17):2632-2641

Reference Center for Hemophilia and Other Rare Inherited Bleeding Disorders, Bicêtre Hospital APHP, Le Kremlin-Bicêtre, France; and.

Glanzmann thrombasthenia (GT) is a rare inherited platelet function disorder caused by a quantitative and/or qualitative defect of the αIIbβ3 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-αIIbβ3 antibodies, which can lead to severe hemorrhage and fetal loss. Read More

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Activated Platelets Upregulate β Integrin Mac-1 (CD11b/CD18) on Dendritic Cells, Which Mediates Heterotypic Cell-Cell Interaction.

J Immunol 2022 04 11;208(7):1729-1741. Epub 2022 Mar 11.

Cardioimmunology Group, Medical Clinic II, University Heart Center Lübeck, Lübeck, Germany;

Recent evidence suggests interaction of platelets with dendritic cells (DCs), while the molecular mechanisms mediating this heterotypic cell cross-talk are largely unknown. We evaluated the role of integrin Mac-1 (αMβ2, CD11b/CD18) on DCs as a counterreceptor for platelet glycoprotein (GP) Ibα. In a dynamic coincubation model, we observed interaction of human platelets with monocyte-derived DCs, but also that platelet activation induced a sharp increase in heterotypic cell binding. Read More

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Stability and utility of flow cytometric platelet activation tests: A modality to bridge the gap between diagnostic demand and supply.

Platelets 2022 Feb 28:1-9. Epub 2022 Feb 28.

Department of Transfusion Medicine and Immunohematology, Christian Medical College Vellore, Vellore, India.

Light transmission aggregometry (LTA) is the gold standard for the diagnosis of platelet function disorders (PFDs). The requirement of customized aggregometer, large blood volume, normal platelet count and processing within 4 hours of venipuncture for LTA makes platelet function testing inaccessible to wider population. Flow cytometric platelet activation test (PACT) may overcome these limitations. Read More

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February 2022

Excellent Outcome Following Sibling Peripheral Blood Hematopoietic Stem Cell Transplantation for Glanzmann Thrombasthenia: A Case Report.

Front Pediatr 2021 7;9:776927. Epub 2022 Feb 7.

Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.

Glanzmann thrombasthenia (GT) is a rare autosomal recessive platelet disorder due to a qualitative or quantitative anomaly of the platelet membrane glycoprotein GPIIb/IIIa. Its clinical manifestations include mild to severe bleeding. GT diagnosis mainly depends on platelet function analysis, flow cytometry, and gene detection. Read More

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February 2022

Elevated CD9 expression as a potential biomarker for diagnosis of Bernard-Soulier syndrome.

Blood Coagul Fibrinolysis 2022 Apr 14;33(3):159-161. Epub 2022 Feb 14.

Hematology Research Center, Shiraz, Iran.

Diagnosis of inherited platelet glycoprotein disorders is based on specific laboratory techniques such as aggregometry and flow cytometry. Flowcytometry is a powerful method, but equivocal results are produced in some cases. New cluster of differentiation markers could resolve the diagnostic dilemmas. Read More

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Novel RASGRP2 variants in platelet function defects: Indian study.

Br J Haematol 2022 05 5;197(3):377-380. Epub 2022 Feb 5.

ICMR-National Institute of Immunohaematology, K.E.M. Hospital campus, Parel, Mumbai, India.

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Analysis of Integrin α Subunit Dynamics Reveals Long-Range Effects of Missense Mutations on Calf Domains.

Int J Mol Sci 2022 Jan 13;23(2). Epub 2022 Jan 13.

INSERM, BIGR, Université de Paris and Université de la Réunion et Université des Antilles, F-75015 Paris, France.

Integrin αβ, a glycoprotein complex expressed at the platelet surface, is involved in platelet aggregation and contributes to primary haemostasis. Several integrin αβ polymorphisms prevent the aggregation that causes haemorrhagic syndromes, such as Glanzmann thrombasthenia (GT). Access to 3D structure allows understanding the structural effects of polymorphisms related to GT. Read More

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January 2022

Blood management strategies in congenital Glanzmann thrombasthenia at a hematology referral center.

Blood Res 2021 Dec;56(4):315-321

Department of Hematology, Ampang Hospital, Selangor, Malaysia.

Background: Glanzmann thrombasthenia is associated with abnormalities in the glycoprotein IIb/IIIa receptor. This study, conducted at Ampang Hospital, Malaysia, aimed to assess outcomes of blood management strategies for Glanzmann thrombasthenia.

Methods: Ten patients with Glanzmann thrombasthenia aged 9 years (2009‒2018) were examined. Read More

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December 2021

Perioperative administration of recombinant activated factor VII in a Glanzmann's thrombasthenia patient with platelet refractoriness: case report.

Braz J Anesthesiol 2021 Nov 28. Epub 2021 Nov 28.

Universidade de Uberaba, Uberaba, MG, Brazil.

Glanzmann's Trombasthenia (GT) is a genetic disorder, that develops with a tendency toward bleeding and is characterized by the absence or decrease in platelet aggregation. Surgical bleeding may be difficult to control. Platelet transfusion is the main treatment, albeit refractoriness can occur. Read More

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November 2021

Glanzmann Thrombasthenia: Use of the Soft Splint with Tranexamic Acid Paste to Reduce Spontaneous Oral Bleeding.

Int J Clin Pediatr Dent 2021 Jul-Aug;14(4):580-585

Department of Pediatric and Preventive Dentistry, Sri Ramachandra Dental College and Hospital, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India.

Background: Glanzmann thrombasthenia is a rare bleeding disorder due to defects in the glycoprotein Ilb/IIIa complex present on the platelet membrane. The most common mode of treatment for this disorder is platelet transfusion. However, scientific evidence does state that repeated transfusions could lead to auto immunization making transfusions ineffective. Read More

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November 2021

Management of High-Grade Coronary Artery Disease and Concomitant Glanzmann Thrombasthenia.

JACC Case Rep 2021 Oct 20;3(14):1625-1629. Epub 2021 Oct 20.

Division of Cardiology, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.

In the present case report, we describe the management of severe coronary artery disease in a patient with Glanzmann thrombasthenia. To the best of our knowledge, there are no established guidelines for revascularization in this setting, and we pose novel discussion points regarding the nuanced care of this patient. (). Read More

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October 2021

Platelet binding to polymerizing fibrin is avidity driven and requires activated αIIbβ3 but not fibrin cross-linking.

Blood Adv 2021 10;5(20):3986-4002

The molecular basis of platelet-fibrin interactions remains poorly understood despite the predominance of fibrin in thrombi. We have studied the interaction of platelets with polymerizing fibrin by adding thrombin to washed platelets in the presence of the peptide RGDW, which inhibits the initial platelet aggregation mediated by fibrinogen binding to αIIbβ3 but leaves intact a delayed increase in light transmission (delayed wave; DW) as platelets interact with the polymerizing fibrin. The DW was absent in platelets from a patient with Glanzmann thrombasthenia, indicating a requirement for αIIbβ3. Read More

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October 2021

Glanzmann thrombasthenia complicated by frequent myeloproliferative neoplasm-related thromboembolism: thrombosis occurring regardless of αIIbβIII integrin deficiency.

Clin Case Rep 2021 Sep 15;9(9):e04757. Epub 2021 Sep 15.

Van Creveldkliniek University Medical Centre Utrecht, University Utrecht The Netherlands.

A patient with Glanzmann Thrombasthenia developed recurrent venous thrombosis with a positive myeloproliferative neoplasm. This indicates that the platelet aIIbβIII integrin has no role in venous thrombosis. We discuss the other potential mechanisms that are involved. Read More

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September 2021

Case Report: A Case of Leukocyte Adhesion Deficiency, Type III Presenting With Impaired Platelet Function, Lymphocytosis and Granulocytosis.

Front Pediatr 2021 16;9:713921. Epub 2021 Aug 16.

Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.

Fermitin family homolog 3 (FERMT3), alternatively kindlin-3 (KIND3), is an integrin binding protein (of 667 residues) encoded by the gene. The molecule is essential for activating integrin αβ (the fibrinogen receptor) on platelets and for the integrin-mediated hematopoietic cell (including platelets, T lymphocytes, B lymphocytes, and granulocytes) adhesion. Its defects are associated with impaired primary hemostasis, described as "Glanzmann's thrombasthenia (MIM#273800)-like bleeding problem. Read More

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Clot Retraction: Cellular Mechanisms and Inhibitors, Measuring Methods, and Clinical Implications.

Biomedicines 2021 Aug 21;9(8). Epub 2021 Aug 21.

Klinik für Anästhesiologie und Intensivmedizin, Universitätsklinikum Essen, Universität Duisburg-Essen, 45122 Essen, Germany.

Platelets have important functions in hemostasis. Best investigated is the aggregation of platelets for primary hemostasis and their role as the surface for coagulation leading to fibrin- and clot-formation. Importantly, the function of platelets does not end with clot formation. Read More

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A Novel Homozygous Frameshift Mutation in ITGB3 Causes Glanzmann's Thrombasthenia.

Acta Haematol 2022;145(1):78-83. Epub 2021 Aug 17.

Department of Hematology, The Second Affiliated Hospital of Nanchang University, Nanchang, China.

The objective of this study was to elucidate the molecular characteristics of a Chinese family with Glanzmann's thrombasthenia (GT). The proband was diagnosed with GT based on clinical manifestations, platelet aggregation, and the expression of CD41 and CD61 in platelets. Whole-exome and Sanger sequencing were used to detect genetic defects related to GT in the proband and the family of the pedigree. Read More

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February 2022

Bernard Soulier syndrome: a rare, frequently misdiagnosed and poorly managed bleeding disorder.

BMJ Case Rep 2021 Aug 16;14(8). Epub 2021 Aug 16.

Internal Medicine 1.2, Hospital de São José, Lisboa, Portugal.

Bernard Soulier syndrome is a rare, congenital platelet bleeding disorder, with autosomal recessive inheritance. It is characterised by macrothrombocytopenia and platelet dysfunction, leading to mucocutaneous bleeding noted in early childhood. This entity poses an important diagnostic challenge, and blood smear and DNA sequencing are paramount for the correct diagnosis. Read More

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Autoimmune disorders of platelet function: systematic review of cases of acquired Glanzmann thrombasthenia and acquired delta storage pool disease.

Blood Transfus 2021 Aug 2. Epub 2021 Aug 2.

Thrombosis and Haemorrhagic Diseases Unit, Humanitas Clinical and Research Center IRCCS, Rozzano (MI), Italy.

Acquired platelet function disorders (PFD) are rare bleeding diseases that should be suspected in all patients with unexplained mucocutaneous bleedings of recent onset, with no previous history of haemorrhages, and with normal coagulation test and platelet count. Drug-induced platelet function bleeding disorders are the most frequent PFDs and can easily be identified on the basis of recent administration of platelet-inhibiting drugs. Apart from these, the most challenging acquired PFDs are those caused by autoimmune mechanisms. Read More

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New αIIbβ3 variants in 28 Turkish Glanzmann patients; structural hypothesis for complex activation by residues variations in I-EGF domains.

Platelets 2022 May 19;33(4):551-561. Epub 2021 Jul 19.

Département d'Immunologie Plaquettaire, Institut National De La Transfusion Sanguine (INTS), Paris, France.

Glanzmann thrombasthenia (GT) is a rare autosomal recessive bleeding disorder characterized by impaired platelet aggregation due to defects in integrin αIIbβ3, a fibrinogen receptor. Platelet phenotypes and allelic variations in 28 Turkish GT patients are reported. Platelets αIIbβ3 expression was evaluated by flow cytometry. Read More

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