1,502 results match your criteria Glanzmann Thrombasthenia


Naturally occurring point mutation Cys460Trp located in the I-EGF1 domain of integrin β3 alters the binding of some anti-HPA-1a antibodies.

Transfusion 2020 Aug 8. Epub 2020 Aug 8.

Institute for Clinical Immunology and Transfusion Medicine, Justus-Liebig University Giessen, Giessen, Germany.

Background: Fetal and neonatal alloimmune thrombocytopenia (FNAIT) is caused by the destruction of platelets in the fetus or newborn by maternal platelet alloantibodies, mostly against human platelet antigen (HPA)-1a. Recent studies indicate that two anti-HPA subtypes exist: Type I reacts with epitopes residing on the plexin-semaphorin-integrin (PSI) and type II with plexin-semaphorin-integrin/integrin epidermal growth factor 1 (I-EGF1) domains of the β3 integrin. Here, we evaluated whether a Cys460Trp mutation in the I-EGF1 domain found in a patient with Glanzmann thrombasthenia can alter the binding of anti-HPA-1a. Read More

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http://dx.doi.org/10.1111/trf.15960DOI Listing

Glanzmann's Thrombasthenia: How Listening to the Patient Is Sometimes the Simple Key to Good Medicine!

Case Rep Med 2020 10;2020:4862987. Epub 2020 Jul 10.

Division of Hematology and Cellular Therapy, Department of Medicine, Allegheny General Hospital, Pittsburgh, PA, USA.

. Glanzmann's thrombasthenia is a rare clotting disorder caused by impaired platelet function. Lack of awareness of the appropriate management of rare medical conditions may lead to patient dissatisfaction and potentially poor treatment outcome. Read More

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http://dx.doi.org/10.1155/2020/4862987DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7368957PMC

A microchip flow-chamber assay screens congenital primary hemostasis disorders.

Pediatr Int 2020 Jul 8. Epub 2020 Jul 8.

Department of Pediatrics, Nara Medical University, Kashihara, Nara, Japan.

Background: Von Willebrand disease (VWD) and platelet function disorders (PFDs) are congenital bleeding disorders caused by primary hemostasis defects. Platelet function tests are time-consuming and require considerable amounts of blood sample, and there were no easy-to-use assays for assessing platelet function quickly and sensitively. We reported the usefulness of a microchip flow-chamber system (T-TAS ) for detecting and/or predicting clinical severities in patients with VWD type 1 and 2N and platelet storage pool disease. Read More

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http://dx.doi.org/10.1111/ped.14378DOI Listing

A novel missense variant in the gene in patients with moderate to severe bleeding disorder.

Platelets 2020 Jul 5;31(5):646-651. Epub 2019 Sep 5.

Center for Genetics and Inherited Diseases, Taibah University Medina, Almadinah Almunawwarah , Saudi Arabia.

Inherited platelet function disorder-18 (IPD-18) is a relatively new non-syndromic autosomal recessive bleeding disorder. It is characterized by deficient or dysfunctional CalDAG-GEFI protein. The distinctive feature of the disease is impaired platelet aggregation in response to multiple physiologic agonists. Read More

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http://dx.doi.org/10.1080/09537104.2019.1663803DOI Listing

Glycophorin A-based exclusion of red blood cells for flow cytometric analysis of platelet glycoprotein expression in citrated whole blood.

Clin Chem Lab Med 2020 Jun 29. Epub 2020 Jun 29.

Institute of Experimental Haematology and Transfusion Medicine, University Hospital Bonn, Venusberg-Campus 1, 53127 Bonn, Germany.

Objectives Analysis of platelet glycoprotein (GP) expression by flow cytometry is applied for diagnostic confirmation of GP-associated thrombocytopathies. While platelet-rich plasma may be used for distinct identification of target events, this strategy is not feasible for small sample volumes or for patients showing low platelet counts and/or giant platelets. However, also the use of whole blood (WB) is hampered by the difficulty to discriminate platelets from red blood cells (RBC) in such patients. Read More

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http://dx.doi.org/10.1515/cclm-2020-0014DOI Listing

Bleeding phenotype and diagnostic characterization of patients with congenital platelet defects.

Am J Hematol 2020 Jun 19. Epub 2020 Jun 19.

Van Creveldkliniek, University Medical Center Utrecht, University Utrecht, Utrecht, the Netherlands.

Phenotypic characterization of congenital platelet defects (CPDs) could help physicians recognize CPD subtypes and can inform on prognostic implications. We report the analyses of the bleeding phenotype and diagnostic characteristics of a large cohort of adult patients with a confirmed CPD. A total of 96 patients were analyzed and they were classified as Glanzmann thrombasthenia, Bernard-Soulier syndrome, dense granule deficiency, defects in the ADP or thromboxane A2 (TxA2) pathway, isolated thrombocytopenia or complex abnormalities. Read More

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http://dx.doi.org/10.1002/ajh.25910DOI Listing

Two homozygous missense mutations in ITGB3 gene as a cause of Glanzmann Thrombasthenia in four consanguineous Pakistani pedigrees.

Int J Lab Hematol 2020 Jun 19. Epub 2020 Jun 19.

Department of Human Genetics and Molecular Biology, University of Health Sciences, Lahore, Pakistan.

Introduction: Glanzmann thrombasthenia (GT) is most common of inherited platelet disorders, resulting from quantitative/qualitative defects in platelet surface integrin αIIbβ3, encoded by ITGA2B and ITGB3 genes. Little is known about clinical and molecular characteristics of GT patients from highly consanguineous Pakistani population.

Methods: This study analyzed the clinical and molecular spectrum of six GT patients from four unrelated but consanguineous families. Read More

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http://dx.doi.org/10.1111/ijlh.13266DOI Listing

Management of siblings with Glanzmann's thrombasthenia: A case report.

J Family Med Prim Care 2020 Mar 26;9(3):1733-1735. Epub 2020 Mar 26.

Senior Lecturer, Saveetha Dental College, Saveetha Institute of Medical and Technical Sciences, Chennai, Tamil Nadu, India.

Glanzmann's thrombasthenia is a rare, genetically inherited platelet disorder characterized by a lack of platelet aggregation. Until date, only close to 500 cases have been reported. GT is associated with clinical variability: some patients have only minimal bruising while others have frequent, severe and potentially fatal hemorrhages often making diagnosis difficult. Read More

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http://dx.doi.org/10.4103/jfmpc.jfmpc_1083_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7266179PMC

Genetics of equine bleeding disorders.

Equine Vet J 2020 May 28. Epub 2020 May 28.

Population Health and Reproduction, School of Veterinary Medicine, University of California, Davis, CA, USA.

Genetic bleeding disorders can have a profound impact on a horse's health and athletic career. As such, it is important to understand the mechanisms of these diseases and how they are diagnosed. These diseases include haemophilia A, von Willebrand disease, prekallikrein deficiency, Glanzmann's Thrombasthenia and Atypical Equine Thrombasthenia. Read More

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http://dx.doi.org/10.1111/evj.13290DOI Listing

Inherited Bleeding Disorders in North Indian Children: 14 years' Experience from a Tertiary Care Center.

Indian J Hematol Blood Transfus 2020 Apr 21;36(2):330-336. Epub 2019 Nov 21.

1Division of Pediatric Hemato-Oncology, Department of Pediatrics, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012 India.

Inherited bleeding disorders are not uncommon in pediatric practice: most of them being chronic, require lifelong replacement therapy. To frame a management policy, it is essential to assess the load and pattern of bleeding disorders in the local population. However, there is paucity of data reporting the clinical spectrum of coagulation and platelet function disorders in Indian children. Read More

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http://dx.doi.org/10.1007/s12288-019-01233-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7229128PMC
April 2020
0.234 Impact Factor

Clinical and laboratorial description of the differential diagnoses of hemostatic disorders in the horse.

Iran J Vet Res 2020 ;21(1):1-8

Department of Animal Medicine and Surgery, Faculty of Veterinary Medicine, University of Córdoba, Córdoba, Spain.

The process of fibrin clot formation is a series of complex and well-regulated reactions involving blood vessels, platelets, procoagulant plasma proteins, natural inhibitors, and fibrinolytic enzymes. Vasculitis can be caused by a variety of different agents as bacteria, viruses, protozoal, rickettsial organisms, toxic, drugs, medications, and neoplasms. The most common cause of vasculitis is the purpura hemorrhagica, which is associated with exposure to ssp. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7183377PMC
January 2020

Heterogeneity of Integrin αβ Function in Pediatric Immune Thrombocytopenia Revealed by Continuous Flow Cytometry Analysis.

Int J Mol Sci 2020 Apr 25;21(9). Epub 2020 Apr 25.

National Medical Research Centеr of Pediatric Hematology, Oncology and Immunology named after Dmitry Rogachev, 1 Samory Mashela St, Moscow 117198, Russia.

Immune thrombocytopenia (ITP) is an autoimmune condition primarily induced by the loss of immune tolerance to the platelet glycoproteins. Here we develop a novel flow cytometry approach to analyze integrin αβ functioning in ITP in comparison with Glanzmann thrombasthenia (GT) (negative control) and healthy pediatric donors (positive control). Continuous flow cytometry of Fura-Red-loaded platelets from whole hirudinated blood was used for the characterization of platelet responses to conventional activators. Read More

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http://dx.doi.org/10.3390/ijms21093035DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7246588PMC

Integrin β3 Deficiency Results in Hypertriglyceridemia via Disrupting LPL (Lipoprotein Lipase) Secretion.

Arterioscler Thromb Vasc Biol 2020 05 2;40(5):1296-1310. Epub 2020 Apr 2.

From the State Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, Collaborative Innovation Center of Hematology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine and School of Life Sciences and Biotechnology, Shanghai Jiao Tong University, China (B.X., X.X.).

Objective: Integrin β3 is implicated in numerous biological processes such as its relevance to blood triglyceride, yet whether β3 deficiency affects this metabolic process remains unknown. Approach and Results: We showed that the Chinese patients with β3-deficient Glanzmann thrombasthenia had a 2-fold higher serum triglyceride level together with a lower serum LPL (lipoprotein lipase) level than those with an αIIb deficiency or healthy subjects. The β3 knockout mice recapitulated these phenotypic features. Read More

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http://dx.doi.org/10.1161/ATVBAHA.119.313191DOI Listing
May 2020
6.000 Impact Factor

Glanzmann's thrombasthenia with spontaneous upper gastrointestinal bleeding: a case report.

J Int Med Res 2020 03;48(3):300060520904849

Department of Gastroenterology, the First Affiliated Hospital of Soochow University, Suzhou, China.

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http://dx.doi.org/10.1177/0300060520904849DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7254599PMC

Long-term treatment with thalidomide for severe recurrent hemorrhage from intestinal angiodysplasia in Glanzmann Thrombasthenia.

Platelets 2020 Mar 21:1-4. Epub 2020 Mar 21.

Department of Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy.

Gastrointestinal angiodysplasia (GIA) is the most common cause of occult gastrointestinal bleeding (GIB) requiring often hospitalization and transfusions, especially in patients with hemorrhagic disorders. Thalidomide, impairing neo-angiogenesis, has been successfully used in the management of bleeding in patients with GIA and in particular in patients with inherited bleeding disorders. Only one case of short-term treatment with thalidomide in a patient with Glanzmann thrombasthenia (GT) and recurrent GIB due to GIA has been reported so far. Read More

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http://dx.doi.org/10.1080/09537104.2020.1745169DOI Listing

Glanzmann thrombasthenia: genetic basis and clinical correlates.

Haematologica 2020 Apr 5;105(4):888-894. Epub 2020 Mar 5.

Division of Pediatric Hematology Oncology, Department of Pediatrics, Washington University School of Medicine in St. Louis, MO, USA

Glanzmann thrombasthenia (GT) is an autosomal recessive disorder of platelet aggregation caused by quantitative or qualitative defects in integrins αIIb and β3. These integrins are encoded by the and genes and form platelet glycoprotein (GP)IIb/IIIa, which acts as the principal platelet receptor for fibrinogen. Although there is variability in the clinical phenotype, most patients present with severe mucocutaneous bleeding at an early age. Read More

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http://dx.doi.org/10.3324/haematol.2018.214239DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7109743PMC

Identification of three novel pathogenic ITGA2B and one novel pathogenic ITGB3 mutations in patients with hereditary Glanzmann's thrombasthenia living in Eastern Turkey.

Platelets 2020 Feb 22:1-5. Epub 2020 Feb 22.

Division of Pediatric Hematology, Faculty of Medicine, Yuzuncu Yil University, Van, Turkiye.

Glanzmann's thrombasthenia (GT) is an autosomal recessive disorder in which the underlying problem is the lack or dysfunction of the GpIIb/IIIa receptor on the platelet surface. The present study determines the genetic mutation typology and analyzes the association between mutation types and clinical findings in patients diagnosed with GT who were followed up in Department of Pediatric Hematology of the Yüzüncü Yıl University School of Medicine. The medical charts of 17 patients who underwent therapy and that were followed up in the Department of Pediatric Hematology of the Yüzüncü Yıl University Dursun Odabaş Medical Center between January 2008 and April 2018 were reviewed retrospectively. Read More

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http://dx.doi.org/10.1080/09537104.2020.1732331DOI Listing
February 2020

Lessons Learned: Deformity Correction and Tibiotalocalcaneal Arthrodesis in a Patient With Glanzmann Thrombasthenia: A Case Report.

JBJS Case Connect 2020 Jan-Mar;10(1):e0277

Department of Orthopaedic Surgery and Rehabilitation, University of Texas Medical Branch, Galveston, Texas.

Case: A 33-year-old woman with Glanzmann thrombasthenia presented to us with a distal tibia nonunion. We attempted to treat her with a multiplanar ring external fixator, but the patient was unable to tolerate the correction, so we resorted to a tibiotalocalcaneal fusion. Hemostasis was difficult to achieve despite the use of antithrombinolytics, factor VII, and platelet transfusions. Read More

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http://dx.doi.org/10.2106/JBJS.CC.19.00277DOI Listing
February 2020

Management of Dentoalveolar Trauma in a 3-year-old Child with Glanzmann's Thrombasthenia, a Rare Bleeding Disorder: Case Report and Review.

Contemp Clin Dent 2019 Jan-Mar;10(1):143-146

Department of General Pathology, Government Medical College and Hospital, Nagpur, Maharashtra, India.

Glanzmann's thrombasthenia (GT) is a rare inherited bleeding disorder characterized by disturbed ability of the blood platelets to gather around the site of a broken blood vessel and fail to form a plug to stop bleeding due to deficiency of a glycoprotein IIb/IIIa in the process of blood clotting and results in moderate-to-severe bleeding on slightest injury to blood vessels. It is typically diagnosed in infancy or early childhood due to mucocutaneous bleeding tendencies. Treatment goals in GT are aimed at control of bleeding. Read More

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http://dx.doi.org/10.4103/ccd.ccd_137_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6975006PMC
February 2020

Menstrual and obstetrical bleeding in women with inherited platelet receptor defects-A systematic review.

Haemophilia 2020 Mar 31;26(2):216-227. Epub 2020 Jan 31.

Van Creveldkliniek, University Medical Center Utrecht, University of Utrecht, Utrecht, The Netherlands.

Introduction: Women with inherited platelet receptor defects (IPRD) may have an increased risk of heavy menstrual bleeding (HMB) and postpartum haemorrhage (PPH).

Aim: To present a systematic overview of the literature on the prevalence and management of menstrual and obstetrical bleeding in women with IPRD.

Methods: Electronic databases were searched for original patient data on the prevalence and management of HMB and PPH in women with known IPRD or who were being investigated for IPRD. Read More

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http://dx.doi.org/10.1111/hae.13927DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7155109PMC

Acquired Glanzmann's thrombasthenia: Diagnosis aided by platelet aggregation mixing study.

Haemophilia 2020 Mar 27;26(2):e41-e43. Epub 2020 Jan 27.

Department of Pathology, UT Southwestern Medical Center, Dallas, Texas.

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http://dx.doi.org/10.1111/hae.13914DOI Listing

Clinical Applications, Pitfalls, and Uncertainties of Thrombin Generation in the Presence of Platelets.

J Clin Med 2019 Dec 30;9(1). Epub 2019 Dec 30.

Department of Internal Medicine, Laboratory of Clinical Thrombosis and Haemostasis, and Cardiovascular Research Institute Maastricht, Maastricht University Medical Center, 6200 Maastricht, The Netherlands.

Platelet-dependent thrombin generation is a helpful tool to assess ex vivo the interaction between platelets and plasma coagulation factors in the initiation, amplification, and inhibition of thrombin generation (TG). This review article discusses the most relevant available data on the clinical applications of fluorogenic TG, the most widely used TG assay, performed in the presence of platelets, i.e. Read More

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http://dx.doi.org/10.3390/jcm9010092DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7019916PMC
December 2019

Acquired Glanzmann thrombasthenia associated with platelet desialylation.

J Thromb Haemost 2020 03 22;18(3):714-721. Epub 2020 Jan 22.

Haematology Research Unit, St. George and Sutherland Clinical School, University of New South Wales, Sydney, NSW, Australia.

Background: The notable discrepancy between platelet count and bleeding manifestations in immune thrombocytopenia (ITP) patients with acquired Glanzmann thrombasthenia (GT) has been described.

Objectives: We aimed to examine the mechanisms responsible for thrombocytopenia and the bleeding phenotype in a patient with acquired GT.

Patient, Methods, And Results: A patient with primary ITP underwent splenectomy due to steroid intolerance. Read More

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http://dx.doi.org/10.1111/jth.14722DOI Listing

Impaired hemostatic activity of healthy transfused platelets in inherited and acquired platelet disorders: Mechanisms and implications.

Sci Transl Med 2019 12;11(522)

Department of Biochemistry and Biophysics, University of North Carolina, Chapel Hill, NC 27599, USA.

Platelet transfusions can fail to prevent bleeding in patients with inherited platelet function disorders (IPDs), such as Glanzmann's thrombasthenia (GT; integrin αIIbβ3 dysfunction), Bernard-Soulier syndrome [BSS; glycoprotein (GP) Ib/V/IX dysfunction], and the more recently identified nonsyndromic variants. Here, we used IPD mouse models and real-time imaging of hemostatic plug formation to investigate whether dysfunctional platelets impair the hemostatic function of healthy donor [wild-type (WT)] platelets. In mice or mice with platelet-specific deficiency in the integrin adaptor protein TALIN1 ("GT-like"), WT platelet transfusion was ineffective unless the ratio between mutant and WT platelets was ~2:1. Read More

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http://dx.doi.org/10.1126/scitranslmed.aay0203DOI Listing
December 2019

Clinico-hematological and thromboelastographic profiles in glanzmann's thrombasthenia.

Blood Coagul Fibrinolysis 2020 Jan;31(1):29-34

Department of Pathology, Melaka Manipal Medical College.

: Glanzmann's thrombasthenia is a rare inherited bleeding disorder characterized by the quantitative or qualitative defect of glycoprotein IIb/IIIa receptor on platelets which leads to ineffective aggregation. Light transmittance aggregometry is considered as the gold standard for diagnosis of Glanzmann's thrombasthenia. Thromboelastography (TEG) is a global hemostatic assay which measures clot formation, clot strengthening and fibrinolysis. Read More

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http://dx.doi.org/10.1097/MBC.0000000000000870DOI Listing
January 2020
1.380 Impact Factor

A rare case of Glanzmann's thrombasthenia and factor VII deficiency due to a combination of pathogenic and non-pathogenic gene variants.

Haemophilia 2020 Jan 27;26(1):e26-e27. Epub 2019 Nov 27.

Department of Haemostasis and Thrombosis, National Institute of Immunohaematology (ICMR), Mumbai, India.

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http://dx.doi.org/10.1111/hae.13898DOI Listing
January 2020

Prevalence of the Mutations Responsible for Glanzmann Thrombasthenia in Horses in Brazil.

Animals (Basel) 2019 Nov 13;9(11). Epub 2019 Nov 13.

São Paulo State University (Unesp), School of Veterinary Medicine and Animal Science, Department of Veterinary Clinical Science,18618-681 Botucatu, Brazil.

Glanzmann's thrombasthenia (GT) is an autosomal recessive inherited disorder characterized by changes in platelet aggregation, leading to hemorrhage and epistaxis. To date, two independent mutations have been described in horses and associated with this disorder, a point mutation (c.122G > C) and a 10-base-pair deletion (g. Read More

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http://dx.doi.org/10.3390/ani9110960DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6912377PMC
November 2019

Successful Use of Hematopoietic Stem Cell Transplantation for 2 Pediatric Cases of Glanzmann Thrombasthenia and Review of the Literature.

J Pediatr Hematol Oncol 2020 Aug;42(6):e521-e526

Division of Pediatric Hematology-Oncology, David Geffen School of Medicine at UCLA, Los Angeles, CA.

Glanzmann thrombasthenia is a rare platelet disorder characterized by an abnormal integrin receptor on the surface of platelets that results in the failure of platelets to aggregate. Currently, curative therapy is allogeneic hematopoietic stem cell transplantation (HSCT). The authors report 2 patients with Glanzmann thrombasthenia who successfully underwent allogeneic HSCT from unrelated donors, including one using umbilical cord blood stem cells. Read More

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http://dx.doi.org/10.1097/MPH.0000000000001646DOI Listing

Knock-in mice bearing constitutively active αIIb(R990W) mutation develop macrothrombocytopenia with severe platelet dysfunction.

J Thromb Haemost 2020 02 6;18(2):497-509. Epub 2019 Dec 6.

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

Background: To date, several mutations that induce constitutive activation of integrin αIIbβ3 have been identified in congenital macrothrombocytopenia. Of these, αIIb(R995W) is the most prevalent mutation observed in Japanese patients with αIIbβ3-related congenital macrothrombocytopenia.

Objective And Methods: The present study aimed to explore the effects of constitutive activation of the αIIb(R995W) mutation on platelet production, morphology, and function. Read More

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http://dx.doi.org/10.1111/jth.14678DOI Listing
February 2020
4 Reads

Unique case of successful surgical treatment of recurrent spinal epidural hematoma after lumbar disc surgery in a Glanzmann thrombasthenia patient.

Br J Neurosurg 2019 Oct 17:1-3. Epub 2019 Oct 17.

Division of Haematology, Department of Internal Medicine, Faculty of Medicine, Jordan University of Science & Technology , Irbid , Jordan.

We report a case of recurrent postoperative spinal hemorrhage after lumbar disc surgery in a Glanzmann thrombasthenia patient. Read More

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http://dx.doi.org/10.1080/02688697.2019.1678736DOI Listing
October 2019
1 Read
0.947 Impact Factor

An Unusual Cause of Bleeding in a Patient with Chronic Myeloid Leukemia Chronic Phase.

Case Rep Hematol 2019 9;2019:5674193. Epub 2019 Sep 9.

Department of Medical Laboratory, Faculty of Applied Medical Sciences, Jazan University, Jazan, Saudi Arabia.

Chronic myelogenous leukemia (CML) is a clonal myeloproliferative neoplasm (MPN) characterized by dysregulated and uncontrolled proliferation of mature and maturing granulocytes with normal differentiation. A genetic hallmark of CML is the presence of the fusion gene product BCR-ABL. Bleeding diathesis in CML patients is rare (<10%) and primarily caused by acquired platelet dysfunction. Read More

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http://dx.doi.org/10.1155/2019/5674193DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6754873PMC
September 2019
2 Reads

A Successful Renal Transplant in a Pediatric Patient With Glanzmann Thrombasthenia and Hyperimmunization.

Exp Clin Transplant 2019 12 1;17(6):831-834. Epub 2019 Oct 1.

From the Pediatric Department of Nephrology and Transplantation, Robert Debré Hospital, APHP, Paris, France.

We report the case of a patient with type 2 Glanzmann thrombasthenia who underwent successful kidney transplant with his mother's kidney. He started dialysis at 13 months. The patient had been diagnosed with Glanzmann thrombasthenia at 9 years old, after hemorrhagic shock, during which multiple transfusions were required and hyperimmunization had developed. Read More

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http://dx.doi.org/10.6002/ect.2019.0174DOI Listing
December 2019
1 Read

Thrombotic events with recombinant activated factor VII (rFVIIa) in approved indications are rare and associated with older age, cardiovascular disease, and concomitant use of activated prothrombin complex concentrates (aPCC).

J Blood Med 2019 18;10:335-340. Epub 2019 Sep 18.

Clinical Development and Medical Affairs - Biopharm, Novo Nordisk Inc., Plainsboro, NJ, USA.

Purpose: Recombinant activated factor VII (rFVIIa; NovoSeven RT; Novo Nordisk A/S, Bagsvaerd, Denmark) is approved in the United States for the treatment of bleeding and perioperative management in congenital hemophilia with inhibitors (CHwI), acquired hemophilia (AH), congenital factor VII (FVII) deficiency, and Glanzmann's thrombasthenia (GT) with refractoriness to platelets. The aim of the current analysis was to review clinical trials and registries pre- and post-licensure for each indication to establish the estimated rate of thrombosis and then to establish the association of all reported thrombotic events (TEs) with certain risk factors listed for many years in the prescribing information (PI).

Patients And Methods: A retrospective safety assessment of both clinical trials and registries used to support licensure and postmarketing surveillance was performed. Read More

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http://dx.doi.org/10.2147/JBM.S219573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6757140PMC
September 2019
3 Reads

A Glanzmann thrombasthenia family associated with a TUBB1-related macrothrombocytopenia.

J Thromb Haemost 2019 12 29;17(12):2211-2215. Epub 2019 Sep 29.

Institut de Rhythmologie et de Modélisation Cardiaque, Hôpital Xavier Arnozan, Pessac, France.

Background: Macrothrombocytopenia (MTP) is a rare but enigmatic complication of Glanzmann thrombasthenia (GT), an inherited bleeding disorder caused by the absence of platelet aggregation due to deficiencies of the αIIbβ3 integrin.

Objectives: We report a family with type I GT and a prolonged bleeding time but unusually associated with congenital mild thrombocytopenia and platelet size heterogeneity with giant forms.

Methods And Results: Sanger sequencing of DNA from the propositus identified 2 heterozygous ITGB3 gene mutations: p. Read More

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http://dx.doi.org/10.1111/jth.14622DOI Listing
December 2019
9 Reads

The International Prospective Glanzmann Thrombasthenia Registry: Pediatric Treatment and Outcomes.

TH Open 2019 Jul 12;3(3):e286-e294. Epub 2019 Sep 12.

Center for Hemophilia and Rare Congenital Bleeding Disorders, University Hospitals Paris-Sud, AP-HP, Bicêtre Hospital, Le Kremlin-Bicêtre, France.

 Standard treatment for Glanzmann thrombasthenia (GT), a severe inherited bleeding disorder, is platelet transfusion. Recombinant activated factor VII (rFVIIa) is reported to be effective in GT with platelet antibodies and/or refractoriness to platelet transfusions.  We evaluated rFVIIa effectiveness and safety for the treatment and prevention of surgical and nonsurgical bleeding in children <18 years old, with or without platelet antibodies and/or refractoriness, as reported in the GT Registry (GTR). Read More

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http://dx.doi.org/10.1055/s-0039-1696657DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6742499PMC
July 2019
1 Read

Genetic classification and confirmation of inherited platelet disorders: current status in Korea.

Authors:
Ye Jee Shim

Clin Exp Pediatr 2020 Mar 6;63(3):79-87. Epub 2020 Feb 6.

Department of Pediatrics, Keimyung University School of Medicine, Keimyung University Dongsan Medical Center, Daegu, Korea.

Inherited platelet disorders (IPDs), which manifest as primary hemostasis defects, often underlie abnormal bleeding and a family history of thrombocytopenia, bone marrow failure, hematologic malignancies, undefined mucocutaneous bleeding disorder, or congenital bony defects. Wide heterogeneity in IPD types with regard to the presence or absence of thrombocytopenia, platelet dysfunction, bone marrow failure, and dysmegakaryopoiesis is observed in patients. The individual processes involved in platelet production and hemostasis are genetically controlled; to date, mutations of more than 50 genes involved in various platelet biogenesis steps have been implicated in IPDs. Read More

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http://kjp.or.kr/journal/view.php?doi=10.3345/kjp.2019.00052
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http://dx.doi.org/10.3345/kjp.2019.00052DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7073384PMC
March 2020
2 Reads

The use of prophylaxis in the treatment of rare bleeding disorders.

Authors:
Amy Shapiro

Thromb Res 2019 Jul 19. Epub 2019 Jul 19.

Indiana Hemophilia & Thrombosis Center, 8326 Naab Rd., Indianapolis, IN 46260, USA. Electronic address:

Rare bleeding disorders (RBDs) are a heterogeneous group of coagulation factor deficiencies that include fibrinogen, prothrombin, α-antiplasmin, plasminogen activator inhibitor-1, and factors II, V, V/VIII, VII, X, XI and XIII. The incidence varies based upon the disorder and typically ranges from 1 in 500,000 to 1 per million population. Symptoms vary with the disorder and residual level of the clotting factor, and can range from relatively minor such as epistaxis, to life threatening, such as intracranial hemorrhage. Read More

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http://dx.doi.org/10.1016/j.thromres.2019.07.014DOI Listing
July 2019
8 Reads

Triple jeopardy: A case of Glanzmann's thrombasthenia with anti-GPIIb-IIIa antibodies and HPA incompatibility resulting in stillbirth.

Thromb Res 2019 Sep 2;181:141-144. Epub 2019 Aug 2.

National Institute of Immunohaematology (ICMR), 13th Floor, K.E.M. Hospital, Parel, Mumbai 400012, India. Electronic address:

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http://dx.doi.org/10.1016/j.thromres.2019.07.022DOI Listing
September 2019
3 Reads
2.447 Impact Factor

Ribociclib Causing Transient Glanzmann Thrombasthenia-like Picture: A Report of 4 Cases.

Clin Breast Cancer 2019 10 24;19(5):e593-e595. Epub 2019 Jun 24.

Department of Pathology, Jordan University Hospital, Amman, Jordan.

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http://dx.doi.org/10.1016/j.clbc.2019.06.002DOI Listing
October 2019
2 Reads
2.107 Impact Factor

Identification of one novel pathogenic mutation and two known mutations in two Chinese pedigrees with hereditary Glanzmann thrombasthenia.

Platelets 2020 14;31(3):355-359. Epub 2019 May 14.

Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, Nanning, P. R. China.

Glanzmann thrombasthenia (GT) is an inherited disorder of platelet aggregation resulting from quantitative and/or qualitative abnormalities of the glycoprotein IIb/IIIa complex. We analyzed the expression of GPIIb/IIIa and the gene sequencing in two pedigrees with GT, so as to determine the type and the relationship between genotype and clinical phenotype. Platelet aggregation tests and flow cytometric studies were performed, along with gene sequencing. Read More

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https://www.tandfonline.com/doi/full/10.1080/09537104.2019.1
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http://dx.doi.org/10.1080/09537104.2019.1615614DOI Listing
May 2019
7 Reads

Perioperative Hemostatic Management of a Pediatric Patient with Glanzmann Thrombasthenia Undergoing Osteoplastic Craniotomy and Hematoma Removal: A Case Report.

Acta Haematol 2019 14;142(4):244-248. Epub 2019 May 14.

Department of Anesthesiology and Pain Medicine, Hanyang University Hospital, Seoul, Republic of Korea.

Glanzmann thrombasthenia is an uncommon hereditary disease that involves an abnormal platelet function leading to complicated hemostatic problems. In situations of anticipated hemorrhage, irradiated apheresed platelets are the first line of treatment. In addition, a combination of recombinant factor VIIa and an antifibrinolytic agent such as tranexamic acid can be utilized to minimize bleeding. Read More

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https://www.karger.com/Article/FullText/499362
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http://dx.doi.org/10.1159/000499362DOI Listing
March 2020
9 Reads

Sphenopalatine Artery Ligation for Life-Threatening Epistaxis in a 4-Year-Old Child With Glanzmann Thrombasthenia.

Ear Nose Throat J 2019 Aug 13;98(7):405-406. Epub 2019 May 13.

1 Royal Darwin Hospital, Darwin, Northern Territory, Australia.

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http://dx.doi.org/10.1177/0145561319847167DOI Listing
August 2019
9 Reads

Effects of a novel low volume resuscitation solutions on coagulation and platelet function.

PLoS One 2019 1;14(5):e0215386. Epub 2019 May 1.

Department of Surgery, Division of Acute Care Surgery, Virginia Commonwealth University School of Medicine, Richmond, VA, United States of America.

Background: Novel crystalloid solutions containing polyethylene glycol polymers (PEG-20k) produce dramatic resuscitation effects but dose-dependently produce a hypocoagulative state. The objective of this study was to examine possible mechanisms of this effect. Based on previous thromboelastography data, we hypothesize the effect is largely due to platelet interactions with the polymers. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0215386PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6493729PMC
January 2020
10 Reads
3.234 Impact Factor

Molecular genetic diagnosis of Glanzmann syndrome in Iranian population; reporting novel and recurrent mutations.

Orphanet J Rare Dis 2019 04 27;14(1):87. Epub 2019 Apr 27.

Dr. Zeinali's Medical Genetics Lab, Kawsar Human Genetics Research Center, No. 41 Majlesi St., Vali Asr St, Tehran, 1595645513, Iran.

Background: Glanzmann thrombasthenia (GT) is a rare autosomal recessive abnormality of platelet aggregation with quantitative and/or qualitative abnormality of αIIbβ3 integrin. The αIIbβ3 is a platelet fibrinogen receptor, which is required for platelet aggregation, firm adhesion, and also spreading. The disease is more prevalent in the populations with a higher rate of consanguineous marriages as in some Middle Eastern populations including Iraq, Jordan, and Iran. Read More

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http://dx.doi.org/10.1186/s13023-019-1042-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6487065PMC
April 2019
6 Reads

Acquired Glanzmann thrombasthenia: From antibodies to anti-platelet drugs.

Authors:
Alan T Nurden

Blood Rev 2019 07 20;36:10-22. Epub 2019 Mar 20.

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

In contrast to the inherited platelet disorder given by mutations in the ITGA2B and ITGB3 genes, mucocutaneous bleeding from a spontaneous inhibition of normally expressed αIIbβ3 characterizes acquired Glanzmann thrombasthenia (GT). Classically, it is associated with autoantibodies or paraproteins that block platelet aggregation without causing a fall in platelet count. However, inhibitory antibodies to αIIbβ3 are widely associated with primary immune thrombocytopenia (ITP), occur in secondary ITP associated with leukemia and related disorders, solid cancers and myeloma, other autoimmune diseases, following organ transplantation while cytoplasmic dysregulation of αIIbβ3 function features in myeloproliferative and myelodysplastic syndromes. Read More

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http://dx.doi.org/10.1016/j.blre.2019.03.004DOI Listing
July 2019
3 Reads

Abdominal Surgical Emergencies in Patients with Hematological Disorders: An Exacting Experience for Surgeons.

Cureus 2019 Feb 5;11(2):e4017. Epub 2019 Feb 5.

General Surgery, Christian Medical College Hospital, Vellore, IND.

Management of surgical emergencies in patients with underlying hematological disorder is challenging due to increased incidence of peri-operative morbidity. We report two cases of abdominal surgical emergencies with pre-existing hematological conditions. The first case report is that of a patient diagnosed with pelvic abscess in a previously diagnosed case of Glanzmann's thrombasthenia and the second is a case of intestinal infarction previously diagnosed with paroxysmal nocturnal hemoglobinuria (PNH). Read More

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http://dx.doi.org/10.7759/cureus.4017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6453618PMC
February 2019
10 Reads

Binding of Coagulation Factor XIII Zymogen to Activated Platelet Subpopulations: Roles of Integrin αIIbβ3 and Fibrinogen.

Thromb Haemost 2019 Jun 1;119(6):906-915. Epub 2019 Apr 1.

Center for Theoretical Problems of Physicochemical Pharmacology, Moscow, Russia.

Factor XIIIa (fXIIIa) is a transglutaminase that plays a crucial role in fibrin clot stabilization and regulation of fibrinolysis. It is known to bind to procoagulant platelets. In contrast, the zymogen fXIII interaction with platelets is not well characterized. Read More

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http://dx.doi.org/10.1055/s-0039-1683912DOI Listing
June 2019
10 Reads

Intraventricular hemorrhage in ICSI twin pregnant woman with thrombasthenia: A rare case report.

J Gynecol Obstet Hum Reprod 2019 Jun 18;48(6):427-429. Epub 2019 Mar 18.

Department of Obstetrics and Gynecology, Woman's Health Hospital, Faculty of Medicine, Assiut University, Assiut, Egypt.

Intraventricular hemorrhage is bleeding into the fluid-filled areas (ventricles) inside the brain. The condition occurs most often in babies that are born premature, growth restricted and twins pregnancies. Abnormal platelets number or functions are responsible greatly for this condition. Read More

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http://dx.doi.org/10.1016/j.jogoh.2019.03.014DOI Listing
June 2019
9 Reads

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

J Thromb Haemost 2019 05 19;17(5):795-802. Epub 2019 Apr 19.

Reference Center for Platelet Disorders, Pessac, France.

Essentials Acquired Glanzmann thrombasthenia (GT) is generally caused by anti-α β autoantibodies. We report the case of a man with an acquired GT phenotype associated with macrothrombocytopenia. Perturbed platelet function were associated with an activating anti-α β IgM autoantibody. Read More

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http://dx.doi.org/10.1111/jth.14424DOI Listing
May 2019
10 Reads