1,450 results match your criteria Glanzmann Thrombasthenia


First description of an IgM monoclonal antibody causing α β integrin activation and acquired Glanzmann thrombasthenia associated with macrothrombocytopenia.

J Thromb Haemost 2019 Mar 13. Epub 2019 Mar 13.

Reference Center for Platelet Disorders, Pessac.

Background: Acquired Glanzmann thrombasthenia (GT) is a bleeding disorder generally caused by anti-α β autoantibodies.

Objectives: We aimed to characterize the molecular mechanism leading to a progressive GT-like phenotype in a patient with chronic immune thrombocytopenia.

Patient, Methods And Results: The patient suffered from repeated episodes of gastrointestinal bleedings and further studies indicated a moderate platelet aggregation defect. Read More

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http://dx.doi.org/10.1111/jth.14424DOI Listing
March 2019
1 Read

Glanzmann Thrombasthenia in a Newborn with Heterozygous Factor V Leiden and Heterozygous MTHFR C677T Gene Mutations.

Indian Pediatr 2019 Feb;56(2):143-144

Department of Pediatric Hematology and Oncology, Necmettin Erbakan University Meram Medical Faculthy, Konya, Turkey.

Introduction: Glanzmann thrombasthenia is a rare congenital platelet dysfunction.

Case Characteristics: A 2-day-old male neonate delivered at 35 weeks' gestation was referred with extensive bruising and jaundice. His elder sibling had Glanzmann thrombasthenia, and his mother had thrombophilic risk factors. Read More

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February 2019
6 Reads

Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients.

NPJ Genom Med 2019 14;4. Epub 2019 Feb 14.

2Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.

Glanzmann thrombasthenia (GT) is a rare autosomal recessive bleeding disorder. Around 490 mutations in and genes were reported. We aimed to use targeted next-generation sequencing (NGS) to identify variants in patients with GT. Read More

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http://dx.doi.org/10.1038/s41525-019-0079-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6375963PMC
February 2019
1 Read

Glanzmann Thrombasthenia in Children: Experience From a Tertiary Care Center in Southern India.

J Pediatr Hematol Oncol 2019 Mar;41(2):e68-e71

Departments of Paediatrics.

Background: Glanzmann thrombasthenia (GT) is a globally rare inherited disorder of hemostasis.

Objectives: To describe the clinical profile of GT in a tertiary care center in Southern India.

Methods: A retrospective chart review of all children with GT was performed between January 2005 and August 2017 in the Department of Paediatrics. Read More

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http://dx.doi.org/10.1097/MPH.0000000000001367DOI Listing
March 2019
2 Reads
0.956 Impact Factor

Inherited Bleeding Disorders in Iraq and Consanguineous Marriage.

Int J Hematol Oncol Stem Cell Res 2018 Oct;12(4):273-281

The National Center of Hematology, Al-Mustansiriyah University, Baghdad, Iraq.

Consanguineous marriage is defined as inbreeding between second cousins or closer. In such families there will be a potential increase in the autosomal recessive traits with its lethal effect, with an increased risk of morbidity and mortality in the new generation. Inherited bleeding disorders (InBDs) are rare complicated diseases, difficult and expensive to treat, the defect usually due to quantitative or qualitative deficiency of clotting factors, platelets or fibrinolysis. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6375379PMC
October 2018
1 Read

Severe Intestinal Bleeding in a Woman with Glanzmann Thrombasthenia.

Eur J Case Rep Intern Med 2018 22;5(2):000796. Epub 2018 Feb 22.

Serviço de Medicina 2.1, Hospital dos Capuchos, Centro Hospitalar de Lisboa Central, Lisbon, Portugal.

Glanzmann thrombasthenia (GT) is a rare inherited disorder associated with abnormal platelet function. Non-surgical bleeding is common and can be life-threatening. A 70-year-old woman with GT presented with a 3 week history of melena and asthenia. Read More

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http://dx.doi.org/10.12890/2017_000796DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6346937PMC
February 2018
1 Read

Delayed Diagnosis of Atypical Presentation of Myasthenia Gravis.

Eur J Case Rep Intern Med 2018 22;5(2):000785. Epub 2018 Feb 22.

Internal Medicine Department, St. Luke General Hospital, Kilkenny, Ireland.

Myasthenia gravis is an autoimmune disorder affecting the neuromuscular junction, resulting in muscle fatiguability and weakness. The pathological characteristics of the disorder include ocular weakness resulting in diplopia and/or ptosis. More generally, the disease can result in fluctuant weakness of skeletal muscle, predominantly affecting ocular, bulbar and respiratory muscles. Read More

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http://dx.doi.org/10.12890/2017_000785DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6346934PMC
February 2018
2 Reads

Oral tranexamic acid associated with platelet transfusion to prevent hemorrhage in a patient with Glanzmann thrombasthenia.

Gen Dent 2019 Jan-Feb;67(1):61-65

Glanzmann thrombasthenia (GT) is a rare genetic disorder that alters platelet function. The clinical manifestations include purpura, epistaxis, gingival bleeding, and menorrhagia. For patients with GT, conventional surgical dental treatment may result in hemorrhagic complications. Read More

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January 2019
6 Reads

Low Concentrations of Recombinant Factor VIIa May Improve the Impaired Thrombin Generation of Glanzmann Thrombasthenia Patients.

Thromb Haemost 2019 Jan 31;119(1):117-127. Epub 2018 Dec 31.

Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Introduction:  Glanzmann thrombasthenia (GT) is a rare bleeding disorder. The disease is caused by the lack or dysfunction of platelet membrane glycoprotein IIb/IIIa (integrin αIIbβ3) which is essential for platelet aggregation. Bleeding episodes are usually managed by platelet transfusions. Read More

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http://dx.doi.org/10.1055/s-0038-1676348DOI Listing
January 2019
5 Reads

Missed at first Glanz: Glanzmann thrombasthenia initially misdiagnosed as Von Willebrand Disease.

Transfus Apher Sci 2019 Feb 5;58(1):58-60. Epub 2018 Dec 5.

National Coagulation Centre, St James's Hospital, Dublin 8, Ireland; Irish Centre for Vascular Biology, Molecular & Cellular Therapeutics, Royal College of Surgeons in Ireland, Dublin 2, Ireland. Electronic address:

Glanzmann thrombasthenia (GT) is an autosomal recessive bleeding disorder caused by a defect in platelet integrin αIIbβ3. Given the rarity of the condition (1/1,000,000), assessment and diagnosis should be undertaken in a specialist centre. We report the case of a 34 year old woman with severe menorrhagia and a childhood diagnosis from another centre of Von Willebrand Disease. Read More

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http://dx.doi.org/10.1016/j.transci.2018.11.008DOI Listing
February 2019
1 Read

High-throughput elucidation of thrombus formation reveals sources of platelet function variability.

Haematologica 2018 Dec 13. Epub 2018 Dec 13.

Maastricht University;

In combination with microspotting, whole-blood microfluidics can provide high-throughput information on multiple platelet functions in thrombus formation. Based on assessment of the inter- and intra-subject variability in parameters of microspot-based thrombus formation, we aimed to determine the platelet factors contributing to this variation. Blood samples from 94 genotyped healthy subjects were analysed for conventional platelet phenotyping: i. Read More

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http://www.haematologica.org/lookup/doi/10.3324/haematol.201
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http://dx.doi.org/10.3324/haematol.2018.198853DOI Listing
December 2018
15 Reads

Combination of acquired von Willebrand syndrome (AVWS) and Glanzmann thrombasthenia in monoclonal gammopathy of uncertain significance (MGUS), a case report.

Thromb J 2018 26;16:30. Epub 2018 Nov 26.

Department of Molecular Medicine and Haematology, Faculty of Health Sciences, University of the Witwatersr and National Health Laboratory Services, 7 York Road, Parktown, Johannesburg, 2196 South Africa.

Background: Autoimmune paraphenomena, are associated with B-cell lymphoproliferative disorders, including monoclonal gammopathy of uncertain significance. These paraphenomena can rarely include acquired bleeding disorders.

Case Presentation: This case study reports an unusual clinical presentation of 2 acquired bleeding disorders, Acquired von Willebrand syndrome (disease) and Acquired Glanzmann's thrombasthenia, in an elderly patient with monoclonal gammopathy of uncertain significance. Read More

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http://dx.doi.org/10.1186/s12959-018-0184-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6260759PMC
November 2018
8 Reads

Multidisciplinary Clinical Management of a Localized Aggressive Periodontitis diagnosed in a Child with Glanzmann's Thrombasthenia.

Int J Clin Pediatr Dent 2018 Jul-Aug;11(4):344-348. Epub 2018 Aug 1.

Professor, Department of Periodontology, University of Nantes, Nantes France; Faculty of Dentistry, McGill University, Montreal, Canada.

Localized aggressive periodontitis (LAP) in child involving primary dentition is a rare disease. The main characteristics of LAP are deep periodontal pockets, bone loss, tooth mobility, and, sometimes, spontaneous tooth loss. The LAP involves only some specific teeth. Read More

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http://dx.doi.org/10.5005/jp-journals-10005-1536DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6212666PMC
August 2018
11 Reads

A unique phenotype of acquired Glanzmann thrombasthenia due to non-function-blocking anti-αIIbβ3 autoantibodies.

J Thromb Haemost 2019 Jan 29;17(1):206-219. Epub 2018 Nov 29.

Department of Hematology and Oncology, Osaka University Graduate School of Medicine, Suita, Japan.

Essentials Acquired Glanzmann thrombasthenia (aGT) is generally caused by function-blocking antibodies (Abs). We demonstrated a unique aGT case due to marked reduction of αIIbβ3 with anti-αIIbβ3 Abs. The anti-αIIbβ3 Abs of the patient did not inhibit platelet function but reduced surface αIIbβ3. Read More

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http://doi.wiley.com/10.1111/jth.14323
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http://dx.doi.org/10.1111/jth.14323DOI Listing
January 2019
6 Reads

[The clinical characteristics and molecular pathogenesis of a variant Glanzmann's thrombasthenia-like pedigree].

Zhonghua Xue Ye Xue Za Zhi 2018 Oct;39(10):807-811

Department of Hematology, West China Hospital, Sichuan University, Chengdu 610041, China.

To review the clinical characteristics of a pedigree with inherited hemorrhagic disease to explore its molecular pathogenesis. The clinical data of the pedigree with inherited hemorrhagic disease were collected. After extracting DNA, next generation sequencing was utilized to detect the potential gene mutation. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0253-2727.2018.10.004DOI Listing
October 2018
5 Reads

Molecular genetic diagnosis of Tunisian Glanzmann thrombasthenia patients reveals a common nonsense mutation in the ITGA2B gene that seems to be specific for the studied population.

Blood Coagul Fibrinolysis 2018 Dec;29(8):689-696

GIMAP-EA3064, University of Lyon, Saint-Etienne, France.

: Glanzmann thrombasthenia is an inherited severe bleeding disease. Mutations associated with Glanzmann thrombasthenia are highly heterogeneous and occur across the two genes coding for the platelet αIIbβ3 integrin. This study was aimed at identifying Glanzmann thrombasthenia-associated novel mutations in Tunisian patients. Read More

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http://Insights.ovid.com/crossref?an=00001721-900000000-9859
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http://dx.doi.org/10.1097/MBC.0000000000000779DOI Listing
December 2018
10 Reads

Flow cytometry for pediatric platelets.

Platelets 2018 Oct 4:1-10. Epub 2018 Oct 4.

a Cellular Hemostasis and Thrombosis Lab , National Medical Research Center of Pediatric Hematology, Oncology and Immunology named after Dmitry Rogachev, Russian Ministry of Healthcare , Moscow , Russian Federation.

The ability of platelets to carry out their hemostatic function can be impaired in a wide range of inherited and acquired conditions: trauma, surgery, inflammation, pre-term birth, sepsis, hematological malignancies, solid tumors, chemotherapy, autoimmune disorders, and many others. Evaluation of this impairment is vitally important for research and clinical purposes. This problem is particularly pronounced in pediatric patients, where these conditions occur frequently, while blood volume and the choice of blood collection methods could be limited. Read More

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https://www.tandfonline.com/doi/full/10.1080/09537104.2018.1
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http://dx.doi.org/10.1080/09537104.2018.1513473DOI Listing
October 2018
15 Reads

From thrombasthenia to next generation thrombocytopenia: Neonatal alloimmune thrombocytopenia induced by maternal Glanzmann thrombasthenia.

Pediatr Blood Cancer 2018 Dec 14;65(12):e27376. Epub 2018 Sep 14.

National Hemophilia Center and Thrombosis Institute, Sheba Medical Center, Tel Hashomer, Israel.

Background: Glanzmann thrombasthenia (GT) is a rare autosomal recessive disorder of platelet function caused by mutations in the genes coding for integrin αIIbβ3. The aim of this study was to examine the outcome of newborns of GT mothers, with emphasis on thrombocytopenia and bleeding manifestations and their relation to maternal antiplatelet antibodies.

Procedure: Medical files of all female patients with GT treated in a single tertiary center from 1999 to 2017 were searched for details on pregnancy and birth. Read More

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http://doi.wiley.com/10.1002/pbc.27376
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http://dx.doi.org/10.1002/pbc.27376DOI Listing
December 2018
9 Reads

[Molecular analysis of gene mutations in eight patients with Glanzmann's thrombasthenia].

Zhonghua Yi Xue Za Zhi 2018 Aug;98(30):2418-2423

Department of Clinical Laboratory, Peking University First Hospital, Beijing100034, China.

To analyze the gene sequencing in eight patients with Glanzmann's thromboasthenia(GT), and combined with clinical manifestations and laboratory findings to investigate the molecular mechanism of GT. Eight patients who were diagnosed as GT based on platelet aggregation test and flow cytometry were enrolled, as well as 4 pedigrees. Next-generation sequencing was used to analyze all the exons and flanking sequences of αⅡ band β3 gene and also platelet-type bleeding disorders related genes. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0376-2491.2018.30.010DOI Listing
August 2018
22 Reads

How we treat the platelet glycoprotein defects; Glanzmann thrombasthenia and Bernard Soulier syndrome in children and adults.

Br J Haematol 2018 Sep 17;182(5):621-632. Epub 2018 Aug 17.

Department of Paediatric Haematology, Royal Manchester Children's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.

The inherited platelet glycoprotein deficiencies, Glanzmann thrombasthenia (GT) and Bernard Soulier syndrome (BSS) are rare but important long-term bleeding disorders. Once diagnosed, affected patients should be referred to a specialist centre for bleeding disorders for general advice and ongoing management. Patients do not require prophylactic treatment and so the management of GT and BSS focuses around prophylactic treatment prior to high risk procedures and treatment in response to non-surgical bleeding events and, in women, the management of menorrhagia and pregnancy. Read More

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http://dx.doi.org/10.1111/bjh.15409DOI Listing
September 2018
4 Reads

Inherited Bleeding Disorders in the Obstetric Patient.

Transfus Med Rev 2018 10 12;32(4):237-243. Epub 2018 Jul 12.

Bloodworks Northwest, Seattle, WA; Department of Medicine, University of Washington, Seattle, WA. Electronic address:

Inherited bleeding disorders increase the risk of bleeding in the obstetric patient. Randomized controlled trials to compare prophylactic or therapeutic interventions are rare, and guidance documents rely heavily on expert opinion. Here we report the results of a systematic review of the literature for the treatment and prevention of peripartum bleeding in women with an inherited bleeding disorder. Read More

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http://dx.doi.org/10.1016/j.tmrv.2018.06.003DOI Listing
October 2018
14 Reads

Spontaneous bone regeneration in a large haemophilic pseudotumour of mandible.

BMJ Case Rep 2018 Aug 8;2018. Epub 2018 Aug 8.

Christian Medical College and Hospital Vellore, Vellore, Tamil Nadu, India.

Pseudotumours of haemophilia (PTH) are locally expansile destructive haematomas which result in varying morbidity among haemophilic patients. Adequate haematological treatment and prophylaxis helps in preventing these haematomas. Currently, there is no uniform standard management protocol for this entity due to rarity of these lesions. Read More

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http://dx.doi.org/10.1136/bcr-2018-226088DOI Listing
August 2018
19 Reads

A novel approach using ancillary tests to guide treatment of Glanzmann thrombasthenia patients undergoing surgical procedures.

Blood Cells Mol Dis 2018 Sep 2;72:44-48. Epub 2018 Aug 2.

National Hemophilia Center, Institute of Thrombosis, and the Amalia Biron Research Institue of Thrombosis and Hemostasis, Sheba Medical Center, Tel Hashomer, Israel; Sackler Faculty of Medicine, Tel Aviv University, Israel.

Background: Glanzmann thrombasthenia (GT) is a disorder of platelet function. Standard therapy includes platelet transfusions, which may be hampered by antiplatelet antibodies.

Aims: To assess potential correlation between bleeding and number of active platelets in GT patients undergoing surgery. Read More

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http://dx.doi.org/10.1016/j.bcmd.2018.07.003DOI Listing
September 2018
3 Reads

Inherited platelet disorders : Management of the bleeding risk.

Transfus Clin Biol 2018 Sep 1;25(3):228-235. Epub 2018 Aug 1.

Université de Strasbourg, Inserm, EFS Grand-Est, BPPS UMR-S1255, FMTS, 67000 Strasbourg, France. Electronic address:

Inherited platelet disorders are rare bleeding syndromes due to either platelet function abnormalities or thrombocytopenia which may be associated with functional defects. The haemorrhagic symptoms observed in these patients are mostly muco-cutaneous and of highly variable severity. Although 30 to 50% of the platelet disorders are still of unknown origin, the precise diagnosis of these pathologies by specialized laboratories together with haemorrhagic scores enables an assessment of the risk of bleeding in each patient. Read More

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http://dx.doi.org/10.1016/j.tracli.2018.07.003DOI Listing
September 2018
4 Reads

[Special type of Glanzmann's thrombasthenia].

Zhonghua Xue Ye Xue Za Zhi 2018 Jun;39(6):524-526

Key Lab of Thrombosis and Hemostasis of Ministry of Health, Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, Suzhou 215006, China.

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http://dx.doi.org/10.3760/cma.j.issn.0253-2727.2018.06.021DOI Listing
June 2018
1 Read

Inherited platelet functional disorders: General principles and practical aspects of management.

Transfus Apher Sci 2018 Aug 19;57(4):494-501. Epub 2018 Jul 19.

Department of Medicine, Cumming School of Medicine, University of Calgary, Calgary, Canada; Department of Pediatric, Cumming School of Medicine, University of Calgary, Calgary, Canada; Department of Oncology, Cumming School of Medicine, University of Calgary, Calgary, Canada; Southern Alberta Rare Blood and Bleeding Disorders Comprehensive Care Program, Foothills Medical Centre, Alberta Health Services, Calgary, Canada. Electronic address:

Platelets are a critical component for effecting hemostasis and wound healing. Disorders affecting any platelet pathway mediating adhesion, activation, aggregation and procoagulant surface exposure can result in a bleeding diathesis. Specific diagnosis even with advanced techniques which are unavailable to most centers is often difficult. Read More

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http://dx.doi.org/10.1016/j.transci.2018.07.010DOI Listing
August 2018
14 Reads

Mass Cytometry Reveals Distinct Platelet Subtypes in Healthy Subjects and Novel Alterations in Surface Glycoproteins in Glanzmann Thrombasthenia.

Sci Rep 2018 Jul 9;8(1):10300. Epub 2018 Jul 9.

Center for Platelet Research Studies, Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Harvard Medical School, Boston, MA, USA.

Mass cytometry (MC) uses mass spectrometry to simultaneously detect multiple metal-conjugated antibodies on single cells, thereby enabling the detailed study of cellular function. Here, for the first time, we applied MC to the analysis of platelets. We developed a panel of 14 platelet-specific metal-tagged antibodies (targeting cluster of differentiation [CD] 9, CD29, CD31, CD36, CD41, CD42a, CD42b, CD61, CD62P, CD63, CD107a, CD154, glycoprotein [GP] VI and activated integrin αIIbβ3) and compared this panel with two fluorescence flow cytometry (FFC) panels (CD41, CD42b, and CD61; or CD42b, CD62P, and activated integrin αIIbβ3) in the evaluation of activation-dependent changes in glycoprotein expression on healthy subject and Glanzmann thrombasthenia (GT) platelets. Read More

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http://dx.doi.org/10.1038/s41598-018-28211-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6037710PMC
July 2018
6 Reads

Study of the Relationship between HPA-1 and HPA-5 Gene Polymorphisms and Refractory to Platelet Therapy and Recombinant Factor VII in Glanzmann Thrombasthenia Patients in Southeast of Iran.

Int J Hematol Oncol Stem Cell Res 2018 Jan;12(1):43-48

Department of Hematology, School of Allied Medical Sciences, Tehran University of Medical Sciences, Tehran, Iran.

Glanzmann Thrombasthenia (GT) is a rare autosomal disease. HPA (Human Platelet Alloantigen) is a surface polymorphic alloantigen of platelets. This study was intended to investigate and compare the polymorphism of HPA-1 and HPA-5 genes in two groups of GT patients, with and without resistance to platelet and recombinant factor VII therapy. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6018251PMC
January 2018
4 Reads

Management of Abdominoperineal Excision of the Rectum in a Patient with Glanzmann Thrombasthenia.

Acta Haematol 2018;139(4):243-246. Epub 2018 Jun 26.

Haematology Department, Ninewells Hospital, Dundee, United Kingdom.

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http://dx.doi.org/10.1159/000489114DOI Listing
June 2018
26 Reads

Acquired Antibodies to αIIbβ3 in Glanzmann Thrombasthenia: From Transfusion and Pregnancy to Bone Marrow Transplants and Beyond.

Authors:
Alan T Nurden

Transfus Med Rev 2018 May 23. Epub 2018 May 23.

Institut de Rhythmologie et de Modélisation Cardiaque, Plateforme Technologique d'Innovation Biomédicale, Hôpital Xavier Arnozan, Pessac, France. Electronic address:

Patients with the inherited bleeding disorder Glanzmann thrombasthenia (GT) possess platelets that lack αIIbβ3 integrin and fail to aggregate, and have moderate to severe mucocutaneous bleeding. Many become refractory to platelet transfusions due to the formation of isoantibodies to αIIbβ3 with the rapid elimination of donor platelets and/or a block of function. Epitope characterization has shown isoantibodies to be polyclonal and to recognize different epitopes on the integrin with β3 a major site and αvβ3 on endothelial and vascular cells a newly recognized target. Read More

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http://dx.doi.org/10.1016/j.tmrv.2018.05.002DOI Listing
May 2018
14 Reads

Alloimmunization in Congenital Deficiencies of Platelet Surface Glycoproteins: Focus on Glanzmann's Thrombasthenia and Bernard-Soulier's Syndrome.

Semin Thromb Hemost 2018 Sep 7;44(6):604-614. Epub 2018 Jun 7.

Centre de Traitement de l'Hémophilie et autres Maladies Hémorragiques Constitutionnelles Rares, Hôpitaux Universitaires Paris Sud APHP - Hôpital Bicêtre APHP, Le Kremlin-Bicêtre, France.

Glanzmann's thrombasthenia (GT) and Bernard-Soulier's syndrome (BSS) are well-understood congenital bleeding disorders, showing defect/deficiency of platelet glycoprotein (GP) IIb/IIIa (integrin αIIbβ3) and GPIb-IX-V complexes respectively, with relevant clinical, laboratory, biochemical, and genetic features. Following platelet transfusion, affected patients may develop antiplatelet antibodies (to human leukocyte antigen [HLA], and/or αIIbβ3 in GT or GPIb-IX in BSS), which may render future platelet transfusion ineffective. Anti-αIIbβ3 and anti-GPIb-IX may also cross the placenta during pregnancy to cause thrombocytopenia and bleeding in the fetus/neonate. Read More

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http://dx.doi.org/10.1055/s-0038-1648233DOI Listing
September 2018
16 Reads

Correction of coagulopathy in thrombocytopenia and Glanzmann thrombasthenia models by fibrinogen and factor XIII as assessed by thromboelastometry.

Pathophysiology 2018 Dec 24;25(4):347-351. Epub 2018 May 24.

Holon Institute of Technology, Holon, Israel.

Thrombocytopenia (TCP) and Glanzmann thrombasthenia (GT) are typical platelet disorders characterized by mild to severe bleeding. This study aims to create in vitro models of TCP and GT and to correct the impaired clot formation by fibrinogen and coagulation factor XIII. The TCP model (mean platelet count, 16 × 10 L) was produced by differential centrifugation of normal blood followed by mixing plasma with packed cells. Read More

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http://dx.doi.org/10.1016/j.pathophys.2018.05.005DOI Listing
December 2018
5 Reads

Congenital Disorders of Platelet Function and Number.

Pediatr Clin North Am 2018 06;65(3):561-578

Blood Center of Wisconsin, Blood Research Institute, Medical College of Wisconsin, 8733 Watertown Plank Road, Milwaukee, WI 53226, USA. Electronic address:

Mucocutaneous bleeding symptoms and/or persistent thrombocytopenia occur in individuals with congenital disorders of platelet function and number. Apart from bleeding, these disorders are often associated with additional hematologic and clinical manifestations, including auditory, immunologic, and oncologic disease. Autosomal recessive, dominant, and X-linked inheritance patterns have been demonstrated. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00313955183003
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http://dx.doi.org/10.1016/j.pcl.2018.02.009DOI Listing
June 2018
6 Reads

Clinical and molecular insights into Glanzmann's thrombasthenia in China.

Clin Genet 2018 Aug 22;94(2):213-220. Epub 2018 May 22.

Key Laboratory of Thrombosis & Hemostasis of Ministry of Health, Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, Suzhou, China.

Glanzmann's thrombasthenia (GT) is a rare bleeding disorder characterized by spontaneous mucocutaneous bleeding. The disorder is caused by quantitative or qualitative defects in integrin αIIbβ3 (encoded by ITGA2B and ITGB3) on the platelet and is more common in consanguineous populations. However, the prevalence rate and clinical characteristics of GT in non-consanguineous populations have been unclear. Read More

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http://dx.doi.org/10.1111/cge.13366DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6041146PMC
August 2018
8 Reads

Morphometric analysis of spread platelets identifies integrin αβ-specific contractile phenotype.

Sci Rep 2018 Apr 3;8(1):5428. Epub 2018 Apr 3.

Laboratory of Applied Mechanobiology, Department of Health Sciences and Technology, ETH Zurich, Vladimir-Prelog-Weg 4, 8093, Zurich, Switzerland.

Haemostatic platelet function is intimately linked to cellular mechanics and cytoskeletal morphology. How cytoskeletal reorganizations give rise to a highly contractile phenotype that is necessary for clot contraction remains poorly understood. To elucidate this process in vitro, we developed a morphometric screen to quantify the spatial organization of actin fibres and vinculin adhesion sites in single spread platelets. Read More

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http://www.nature.com/articles/s41598-018-23684-w
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http://dx.doi.org/10.1038/s41598-018-23684-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5882949PMC
April 2018
5 Reads

Anti-α β immunization in Glanzmann thrombasthenia: review of literature and treatment recommendations.

Br J Haematol 2018 04 2;181(2):173-182. Epub 2018 Apr 2.

Laboratory of Haematology, University Hospital of La Timone, French Reference Centre for Rare Platelet Disorders, Marseille, France.

Glanzmann thrombasthenia (GT) is caused by inherited defects of the α β platelet glycoprotein. This bleeding disorder can be treated with platelet transfusion therapy, but some patients will be immunized and begin to form anti-human leucocyte antigen (HLA) and/or anti-α β antibodies. These antibodies can bind and interfere with the function of the transfused platelets, rendering treatment ineffective. Read More

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http://doi.wiley.com/10.1111/bjh.15087
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http://dx.doi.org/10.1111/bjh.15087DOI Listing
April 2018
21 Reads

Spectrum of hemostatic disorders in Indian females presenting with bleeding manifestations.

Int J Lab Hematol 2018 Aug 25;40(4):437-441. Epub 2018 Mar 25.

Department of Hematology, All India Institute of Medical Sciences, New Delhi, India.

Introduction: Hemostatic disorders are often missed in women with bleeding particularly menorrhagia. Preexisting hemostatic disorders are now known as common risk factor for postpartum hemorrhage and prolonged bleeding in puerperium. Females with bleeding complaints constitute an important population referred to hematology clinic. Read More

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http://dx.doi.org/10.1111/ijlh.12806DOI Listing
August 2018
7 Reads

Levonorgestrel-releasing intrauterine system for treatment of heavy menstrual bleeding in adolescents with Glanzmann's Thrombasthenia: illustrated case series.

Authors:
Meiqiu Lu Xin Yang

BMC Womens Health 2018 02 27;18(1):45. Epub 2018 Feb 27.

Gynecology and Obstetrics Department, Peking University People's Hospital, Xi zhi men South Street 11, Xi cheng District, Beijing, PR100044, China.

Background: Glanzmann's Thrombasthenia (GT) is an inherited genetic disorder caused by defects in the platelet membrane glycoproteins IIb/IIIA, and is associated with heavy menstrual bleeding (HMB). HMB is a common complication in female patients, and many adolescent girls with this disease have issues with HMB beginning at menarche. The available treatment modalities including anti-fibrinolytics, nonsteroidal anti-inflammatory drugs (NSAIDs) and hormonal therapies though are effective, their associated side effects, limited efficacy and the poor compliance is a challenge in management of HMB. Read More

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http://dx.doi.org/10.1186/s12905-018-0533-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5830334PMC
February 2018
10 Reads

Perioperative management of a patient with Glanzmann thrombasthenia undergoing a coronary artery bypass graft surgery: a case report.

Blood Coagul Fibrinolysis 2018 Apr;29(3):327-329

Department of Biological Hematology.

: We report herein the successful perioperative management of a 57-year-old man with a type I Glanzmann thrombasthenia undergoing coronary artery bypass graft surgery and right carotid endarterectomy. The patient suffered from several lesions in the three major coronary arteries and in the right carotid necessitating surgery. Prophylactic human leukocyte antigen (HLA)-matched platelets transfusions were continuous administrated before, and through the immediate perioperative period. Read More

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http://dx.doi.org/10.1097/MBC.0000000000000719DOI Listing
April 2018
17 Reads

In silico analysis of structural modifications in and around the integrin αIIb genu caused by ITGA2B variants in human platelets with emphasis on Glanzmann thrombasthenia.

Mol Genet Genomic Med 2018 03 31;6(2):249-260. Epub 2018 Jan 31.

Université de Bordeaux, INSERM U1034, Bordeaux, France.

Background: Studies on the inherited bleeding disorder, Glanzmann thrombasthenia (GT), have helped define the role of the αIIbβ3 integrin in platelet aggregation. Stable bent αIIbβ3 undergoes conformation changes on activation allowing fibrinogen binding and its taking an extended form. The αIIb genu assures the fulcrum of the bent state. Read More

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http://doi.wiley.com/10.1002/mgg3.365
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http://dx.doi.org/10.1002/mgg3.365DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5902390PMC
March 2018
24 Reads

Diagnosis of platelet function disorders: A standardized, rational, and modular flow cytometric approach.

Platelets 2018 Jun 11;29(4):347-356. Epub 2017 Dec 11.

e Institute of Experimental Biomedicine , University Hospital Würzburg , Würzburg , Germany.

A high proportion of patients with mucocutaneous bleeding diathesis and suspected inherited or acquired platelet disorder remain without diagnosis even after comprehensive laboratory testing. Since flow cytometry allows investigation of resting and activated platelets on the single cell level by requiring only minimal amounts of blood, this method has become an important assay within the diagnostic algorithm, especially in pediatrics. We therefore developed a standardized and modular flow cytometric approach that contributes to clarify impaired platelet function in a rational step-by-step manner. Read More

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http://dx.doi.org/10.1080/09537104.2017.1386297DOI Listing
June 2018
36 Reads

Reversal of Glanzmann thrombasthenia platelet phenotype after imatinib treatment in a pediatric chronic myeloid leukemia patient.

Platelets 2018 Mar 29;29(2):203-206. Epub 2017 Nov 29.

a Department of Hematology , All India Institute of Medical Sciences , New Delhi , India.

Chronic Myelogenous Leukemia (CML) is a myeloproliferative neoplasm characterized by proliferation of Philadelphia positive clonal pluripotent hematopoietic cells. Bleeding is a rare presentation of CML that can occur due to platelet dysfunction. Both pre-treatment and post-treatment platelet function abnormalities in CML have been described in the literature. Read More

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http://dx.doi.org/10.1080/09537104.2017.1384539DOI Listing
March 2018
17 Reads
2.630 Impact Factor

Allogeneic hematopoietic cell transplantation in an adult patient with Glanzmann thrombasthenia.

Clin Case Rep 2017 11 5;5(11):1887-1890. Epub 2017 Oct 5.

Unidad de Hemostasia y Trombosis Servicio de Hematología Hospital Universitario y Politécnico La Fe Valencia Spain.

Glanzmann thrombasthenia is a rare bleeding disorder that can present life-threatening bleeding. Our patients develop antiplatelet antibodies that become refractory to any pharmacological treatment. Allogeneic hematopoietic stem-cell transplantation is the only currently curative procedure, but has major risks mainly in adult; indeed, our patient died. Read More

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http://dx.doi.org/10.1002/ccr3.1206DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5676254PMC
November 2017
50 Reads

Screening for platelet function disorders with Multiplate and platelet function analyzer.

Platelets 2019 14;30(1):81-87. Epub 2017 Nov 14.

d Central Diagnostic Laboratory, Unit for Hemostasis and Transfusion, Maastricht University Medical Centre+ , Maastricht , The Netherlands.

Light transmission aggregation (LTA) is the gold standard for the diagnosis of platelet function disorders (PFDs), but it is time-consuming and limited to specialized laboratories. Whole-blood impedance aggregometry (Multiplate) and platelet function analyzer (PFA) may be used as rapid screening tools to exclude PFDs. The aim of this study is to assess the diagnostic performance of Multiplate and PFA for PFDs, as detected by LTA. Read More

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http://dx.doi.org/10.1080/09537104.2017.1371290DOI Listing
March 2019
14 Reads

ITGA2B and ITGB3 gene mutations associated with Glanzmann thrombasthenia.

Platelets 2018 01 10;29(1):98-101. Epub 2017 Nov 10.

a Institut de Rhythmologie et de Modélisation Cardiaque, Plateforme Technologique d'Innovation Biomédicale, Hôpital Xavier Arnozan , Pessac , France.

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http://dx.doi.org/10.1080/09537104.2017.1371291DOI Listing
January 2018
5 Reads

Challenges on the diagnostic approach of inherited platelet function disorders: Is a paradigm change necessary?

Platelets 2018 Mar 1;29(2):148-155. Epub 2017 Nov 1.

a Centre Hospitalier Universitaire Sainte-Justine , Hematology and Oncology Division , Montréal , QC , Canada.

Inherited platelet function disorders (IPFD) have been assessed for more than 50 years by aggregation- and secretion-based tests. Several decision trees are available intending to standardize the investigation of IPFD. A large variability of approaches is still in use among the laboratories across the world. Read More

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http://dx.doi.org/10.1080/09537104.2017.1356918DOI Listing
March 2018
8 Reads

Molecular characterization of Glanzmann's thrombasthenia in Iran: identification of three novel mutations.

Blood Coagul Fibrinolysis 2017 Dec;28(8):681-686

aDepartment of Hematology, Faculty of Allied Medicine, Iran University of Medical SciencesbDepartment of Pediatrics, Baqiyatallah University of Medical Sciences, TehrancDepartment of Hematology and Laboratory Sciences, Faculty of Allied Medicine, Kerman University of Medical Sciences, KermandDepartment of Veterinary Sciences, Baft Branch, Islamic Azad University, BafteDepartment of Pediatric Hematology Oncology, Iran University of Medical Science, TehranfIranian Comprehensive Hemophilia Care Centre, Tehran, Iran.

: Quantitative and/or qualitative defects of the platelet membrane glycoprotein IIb/IIIa complex lead to the clinical entity of Glanzmann's thrombasthenia. A large variety of mutations and polymorphisms are responsible for the aberrant expression and defective activity of this heterodimeric complex. The current study aimed to determine the pattern of mutations among Iranian population with Glanzmann's thrombasthenia. Read More

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http://dx.doi.org/10.1097/MBC.0000000000000673DOI Listing
December 2017
24 Reads
1.380 Impact Factor

Human endoglin as a potential new partner involved in platelet-endothelium interactions.

Cell Mol Life Sci 2018 04 28;75(7):1269-1284. Epub 2017 Oct 28.

Centro de Investigaciones Biologicas, Consejo Superior de Investigaciones Científicas (CSIC), Ramiro de Maeztu, 9, 28040, Madrid, Spain.

Complex interactions between platelets and activated endothelium occur during the thrombo-inflammatory reaction at sites of vascular injuries and during vascular hemostasis. The endothelial receptor endoglin is involved in inflammation through integrin-mediated leukocyte adhesion and transmigration; and heterozygous mutations in the endoglin gene cause hereditary hemorrhagic telangiectasia type 1. This vascular disease is characterized by a bleeding tendency that is postulated to be a consequence of telangiectasia fragility rather than a platelet defect, since platelets display normal functions in vitro in this condition. Read More

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http://dx.doi.org/10.1007/s00018-017-2694-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5843676PMC
April 2018
15 Reads