As integrinas são proteínas de adesão presentes na membrana celular inseridas de forma transmembrânica, com uma extremidade externa que se liga a componentes da matriz e outra extremidade que se liga, através da proteína talina à porção do citoesqueleto constituído de actina. Dessa maneira, percebe-se uma comunicação entre a matriz extracelular com o citoplasma através da membrana plasmática.
Introdução
O que você precisa saber de cara
Doença autossômica recessiva rara que afeta a agregação plaquetária, causando sangramentos anormais como gengivorragia, equimoses e hemorragias gastrointestinais, devido a defeitos nos genes ITGA2B e ITGB3.
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Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 19 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 31 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
2 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.
Integrin alpha-V/beta-3 (ITGAV:ITGB3) is a receptor for cytotactin, fibronectin, laminin, matrix metalloproteinase-2, osteopontin, osteomodulin, prothrombin, thrombospondin, vitronectin and von Willebrand factor. Integrin alpha-IIb/beta-3 (ITGA2B:ITGB3) is a receptor for fibronectin, fibrinogen, plasminogen, prothrombin, thrombospondin and vitronectin. Integrins alpha-IIb/beta-3 and alpha-V/beta-3 recognize the sequence R-G-D in a wide array of ligands. Integrin alpha-IIb/beta-3 recognizes the s
Cell membraneCell projection, lamellipodium membraneCell junction, focal adhesionPostsynaptic cell membraneSynapse
Fetomaternal alloimmune thrombocytopenia 1
A form of fetomaternal alloimmune thrombocytopenia, a bleeding disorder caused by maternal/fetal incompatibility for platelet alloantigens and arising when a fetus inherits a paternal platelet alloantigen that the mother does not possess. During pregnancy, as well as parturition, maternal alloantibodies against paternally-inherited platelet antigens cause destruction of fetal platelets and fetal/neonatal thrombocytopenia. Disease severity and clinical features in the fetus or neonate are heterogeneous. While most fetuses remain asymptomatic, others develop skin bleedings (petechiae) or internal organ bleedings. The most severe symptom is intracranial hemorrhage that is mostly discovered postnatally and can result in neurological complications or even death. Mothers with circulating platelet alloantibodies may experience miscarriage. FMAIT1 transmission pattern is consistent with autosomal dominant paternal inheritance.
Integrin alpha-IIb/beta-3 (ITGA2B:ITGB3) is a receptor for fibronectin, fibrinogen, plasminogen, prothrombin, thrombospondin and vitronectin. It recognizes the sequence R-G-D in a wide array of ligands. It recognizes the sequence H-H-L-G-G-G-A-K-Q-A-G-D-V in fibrinogen gamma chain (By similarity). Following activation integrin alpha-IIb/beta-3 brings about platelet/platelet interaction through binding of soluble fibrinogen (PubMed:9111081). This step leads to rapid platelet aggregation which phy
Cell membrane
Fetomaternal alloimmune thrombocytopenia 2
A form of fetomaternal alloimmune thrombocytopenia, a bleeding disorder caused by maternal/fetal incompatibility for platelet alloantigens and arising when a fetus inherits a paternal platelet alloantigen that the mother does not possess. During pregnancy, as well as parturition, maternal alloantibodies against paternally-inherited platelet antigens cause destruction of fetal platelets and fetal/neonatal thrombocytopenia. Disease severity and clinical features in the fetus or neonate are heterogeneous. While most fetuses remain asymptomatic, others develop skin bleedings (petechiae) or internal organ bleedings. The most severe symptom is intracranial hemorrhage that is mostly discovered postnatally and can result in neurological complications or even death. Mothers with circulating platelet alloantibodies may experience miscarriage. FMAIT2 transmission pattern is consistent with autosomal dominant paternal inheritance.
Medicamentos e terapias
Mecanismo: Coagulation factor VII exogenous protein
Variantes genéticas (ClinVar)
596 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 1,180 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
23 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Trombastenia de Glanzmann
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
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4 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
57 ensaios clínicos encontrados, 6 ativos.
Publicações mais relevantes
The International Society on Thrombosis and Haemostasis Bleeding Assessment Tool's Usefulness as a Screening Questionnaire for Diagnosing and Assessing the Severity of Glanzmann Thrombasthenia in Children from Northeast Egypt.
to assess the utility of the international society on thrombosis and hemostasis (ISTH) bleeding assessment tool a screening questionnaire for diagnosis of Glanzmann thrombasthenia (GT) and its severity. Out of 250 children, only 30 had GT and were classified into 3 sub-groups by flow cytometric analysis. Thirty age- and sex-matched healthy individuals were compared to the cases. Platelet count, bleeding time, platelet aggregation studies, and flow cytometric analysis were done. Dental extractions, oral cavity bleeding, bruises on the skin, bleeding from small cuts, and epistaxis all exhibited significant increases in the cases as compared to the healthy individuals (p = < 0.001). In comparison to type II and type III, the ISTH-bleeding questionnaire score revealed a significant rise in the type I (p < 0.001). The ISTH-bleeding questionnaire score's AUC revealed that GT cases and healthy individuals could be distinguished with great accuracy (AUC = 1) (CI 95%, P < 0.001). The following values were 100% at the cutoff value of ≥ 3.5: sensitivity, specificity and accuracy. It will be helpful to screen cases for suspected bleeding disorders, such as GT using the ISTH bleeding assessment tool questionnaire before undergoing time-consuming examinations. This will also help forecast the severity of various types of GT. The online version contains supplementary material available at 10.1007/s12288-025-01994-0.
Clinicopathological Spectrum of Functional Platelet Disorders Diagnosed Using Light Transmission Aggregometry.
Platelet function tests (PFT) are performed using a standalone platelet aggregometer or automated coagulation analysers. This study analyses the clinico-pathological profile of patients presenting with abnormal bleeding which were diagnosed using the principle of light transmission aggregometry (LTA). Sixty patients suspected to have functional platelet abnormalities, were analysed. PFT was performed using Sysmex CS-2400. Sixty patients presenting with abnormal bleeding were evaluated. Symptomatic patients were 70%(n = 42) with most common symptom being purpura. Thrombocytopenia was seen in 27%(n = 16) and 12%(n = 7) showed macrothrombocytopenia. Prolonged bleeding time was observed in 25%(n = 15) and 17%(n = 10) showed decreased clot retraction. Hereditary thrombocyopathia was diagnosed in 32%(n = 22) and 13%(n = 8) with acquired thrombocytopathias. Glanzmann thrombasthenia was diagnosed in 10%. Bernard-Soulier and Harris-platelet syndrome in 7%(n = 4) each. There was one case (2%) of Grey-platelet syndrome. Resistance to antiplatelet drugs was observed in 8%(n = 5). Abnormal platelet function due to chronic kidney disease, antihypertensive drugs, pregnancy and chronic myeloid leukemia were diagnosed in 2% each. PFT performed using an automated LTA on a coagulation analyzer was less labour intensive, rapid, required less sample volume and platelet count. The incorporation of PFT's in the investigative profile of patient who present with abnormal especially mucocutaneous bleeding is highly recommended. The online version contains supplementary material available at 10.1007/s12288-025-02006-x.
Diagnostic challenges in inherited platelet disorders in sub-Saharan Africa: first clinical case study of seven patients in Senegal.
Constitutional thrombopathies, also known as inherited platelet disorders (IPDs), represent a complex and heterogeneous group of bleeding disorders. These conditions are still poorly documented in resource-limited settings, particularly in sub-Saharan Africa. This study was initiated with the primary objective of confirming suspected cases of IPD in Senegal. We conducted an observational study of all suspected cases of constitutional thrombopathy at the clinical hematology department in Dakar. Each patient provided written consent, and complete clinical files were obtained. We analyzed clinical parameters such as bleeding antecedent, history of care, first symptoms, bleeding profile, ISTH-SSC Bleeding Assessment Tool (BAT), and any complications related to the disorder.Biological assessments included platelet counts, blood smears, PT, aPTT, fibrinogen levels, coagulation factor assays, platelet aggregation testing using five agonists (collagen, ADP, AA, epinephrine, and ristocetin), and platelet immunophenotyping by flow cytometry (FC). We identified ten cases, of which seven were included in this study. All patients were from consanguineous marriages, and only two had no family history of bleeding. Clinical manifestations were predominantly mucosal hemorrhages. All patients had elevated ISTH-SSC BAT.Platelet aggregation and immunophenotyping confirmed a Bernard-Soulier syndrome profile in one patient and a Glanzmann thrombasthenia in four patients. The remaining two patients exhibited profiles suggestive of GPVI/α2β1 integrin and P2Y1/P2Y12 receptor deficiencies. This first study conducted locally in sub-Saharan Africa highlights the complexity of diagnosing inherited platelet disorders and the challenges of implementing light transmission aggregometry and platelet immunophenotyping in resource-limited countries.
ITGA2B/ITGB3-Related Macrothrombocytopenia Associated With Gain-of-Function Mutations in ITGA2B or ITGB3 Genes.
Glanzmann thrombasthenia (GT) is an inherited hemorrhagic disorder characterised by impaired platelet functions, manifested clinically as spontaneous bleeding. It is usually inherited in an autosomal recessive manner. Platelet dysfunction in patients with GT is caused by quantitative and/or qualitative deficiencies in αIIbβ3, which result from mutations in the genes encoding αIIbβ3. These genetic alterations lead to platelet dysfunction characterised by impaired fibrinogen binding capacity upon agonist stimulation, defective aggregation and spreading. While classical GT typically exhibits normal platelet counts and morphology, very rare mutations in ITGA2B (encoding αIIb) and/or ITGB3 (encoding β3) cause macrothrombocytopenia or increased platelet anisotropy (heterogeneity of platelet size and morphology). This type of mutation mainly localises in the membrane-proximal region of αIIbβ3 and is inherited in an autosomal dominant manner. This particular type of disorder is called ITGA2B/ITGB3-related macrothrombocytopenia and has been considered a subset of congenital macrothrombocytopenia. Current research suggests that gain-of-function mutations in ITGA2B or ITGB3 underlie the pathogenesis of most ITGA2B/ITGB3-related macrothrombocytopenia and mechanistically distinguish it from classical GT. However, recent reports have documented non-activating ITGB3 mutations that also cause macrothrombocytopenia, presenting a profound challenge to the mechanistic understanding of ITGA2B/ITGB3-related macrothrombocytopenia. This review summarises the reported cases of gain-of-function mutations in ITGA2B and ITGB3 associated with ITGA2B/ITGB3-related macrothrombocytopenia hitherto and discusses the potential molecular pathways contributing to the unique phenotypes in ITGA2B/ITGB3-related macrothrombocytopenia.
Inherited Platelet Disorders During Pregnancy and Delivery: Overview of Management Strategies and Emerging Therapeutic Considerations.
Inherited platelet disorders (IPDs) comprise a heterogeneous group of rare conditions that present particular challenges during pregnancy, with bleeding risk increasing during labor and the immediate postpartum period. These disorders require coordinated, multidisciplinary management to mitigate maternal and neonatal bleeding risk. Although data remains limited, individuals with IPD, including Bernard-Soulier syndrome, Glanzmann thrombasthenia, MYH9-related disorders, Hermansky-Pudlak syndrome, and platelet storage pool disorders, are at an increased risk for obstetrical bleeding, with the degree of risk varying by underlying diagnosis. In severe inherited platelet disorders such as Glanzmann thrombasthenia, peripartum hemorrhage is common, with up to half of the deliveries in some series requiring red cell or platelet transfusion. Because these conditions are congenital, the fetus may also be affected, placing neonates at risk for serious bleeding complications, including intracranial hemorrhage, although available data is limited. Despite the considerable morbidity and mortality risk associated with inherited platelet disorders, management strategies during pregnancy and delivery remain poorly defined. This stands in contrast to other bleeding disorders, such as factor deficiencies, for which multiple therapeutic approaches have been evaluated in the peripartum setting. In this review, we summarize the available evidence and current management strategies for individuals with inherited platelet disorders during pregnancy and delivery.
Publicações recentes
Rare Bleeding Disorders and Bleeding Disorder of Unknown Cause: Current Understanding and Recent Developments.
Platelet transfusion refractoriness in Glanzmann thrombasthenia: a case report with literature review.
Congenital thrombopathies in southern Tunisia : A multicenter study.
Inherited Platelet Disorders During Pregnancy and Delivery: Overview of Management Strategies and Emerging Therapeutic Considerations.
Neonatal Glanzmann's Thrombasthenia Presenting as Refractory Post-circumcision Hemorrhage in a Region of High Consanguinity: A Case Report.
📚 EuropePMC376 artigos no totalmostrando 200
Inherited Platelet Disorders During Pregnancy and Delivery: Overview of Management Strategies and Emerging Therapeutic Considerations.
Hematology reportsMonoclonal Gammopathies of Thrombotic and Hemorrhagic Significance: Mapping into a classification schema.
Journal of thrombosis and haemostasis : JTHNeonatal Glanzmann's Thrombasthenia Presenting as Refractory Post-circumcision Hemorrhage in a Region of High Consanguinity: A Case Report.
CureusA Novel Homozygous ITGA2B Variant Associated With Recurrent Epistaxis in a Four-Year-Old Girl: A Case Report.
CureusManagement of traumatic hyphema in a patient with Glanzmann thrombasthenia using intraoperative recombinant factor VIIa.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusInterlaboratory exercise on the use of immunofluorescence microscopy on the blood smear for recognizing inherited platelet disorders: communication from the ISTH SSC Subcommittee on Platelets in Health and Disease.
Journal of thrombosis and haemostasis : JTHGlanzmann thrombasthenia presenting with upper gastrointestinal bleeding: a case series and review of the literature.
Frontiers in medicineManaging massive gastrointestinal and abdominal haemorrhage in inherited bleeding disorders: experience from a pediatric cohort.
International journal of hematologyHemostatic rescue with rFVIIa in Bernard-Soulier syndrome refractory to HLA-matched platelet transfusion.
Annals of hematologyClinical and Genetic Characterization of 269 Patients With Suspected Inherited Platelet Disorders: The Padua Monocentric Experience.
International journal of laboratory hematologyThe International Society on Thrombosis and Haemostasis Bleeding Assessment Tool's Usefulness as a Screening Questionnaire for Diagnosing and Assessing the Severity of Glanzmann Thrombasthenia in Children from Northeast Egypt.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionClinicopathological Spectrum of Functional Platelet Disorders Diagnosed Using Light Transmission Aggregometry.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionDiagnostic challenges in inherited platelet disorders in sub-Saharan Africa: first clinical case study of seven patients in Senegal.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisThe use of light transmission aggregometry for monitoring platelet transfusion response in a small case cohort of Glanzmann thrombasthenia patients: a hypothesis-generating study.
PlateletsPulmonary thromboembolism in Glanzmann Thrombasthenia: a case report and systematic literature review.
Annals of hematologyNovel compound heterozygous ITGA2B mutations in Glanzmann thrombasthenia associated with adolescent osteoporosis.
PlateletsITGA2B/ITGB3-Related Macrothrombocytopenia Associated With Gain-of-Function Mutations in ITGA2B or ITGB3 Genes.
Journal of cellular and molecular medicineInternational Practices in Managing Preconception, Pregnancy and Childbirth in Women With Glanzmann Thrombasthenia: A Survey From the European Association of Haemophilia and Allied Disorders (EAHAD).
Haemophilia : the official journal of the World Federation of HemophiliaFunctional classification of platelet gene variants using CRISPR HDR in CD34+ cell-derived megakaryocytes.
American journal of human geneticsWhen it's not Glanzmann thrombasthenia or Bernard-Soulier syndrome: diagnosing other qualitative platelet disorders.
Hematology. American Society of Hematology. Education ProgramMolecular Pathogenesis of Inherited Platelet Dysfunction.
BiomoleculesPerioperative Platelet Transfusion Strategies and Multidisciplinary Collaboration Experience in Glanzmann Thrombasthenia Caused by ITGA2B Gene Variation During Pregnancy: A Case Report.
International journal of women's healthManagement of Severe Menorrhagia in an Adolescent with Glanzmann Thrombasthenia: A Case Report and Treatment Approach.
Journal of pediatric and adolescent gynecologyCharacterising Glanzmann Thrombasthenia in the United States: Real-World Data From the EPIC Cosmos Dataset.
Haemophilia : the official journal of the World Federation of HemophiliaUse of a conditional Glanzmann thrombasthenia mouse model reveals a supportive and possibly non-adhesive role for TLT-1 in the platelet-fibrinogen interaction.
PlateletsPanophthalmitis in a case of Glanzmann thrombasthenia - The dilemma in diagnosis.
Romanian journal of ophthalmologyFlow Cytometry Assessment of Platelet Phenotype, Function, and Cellular Interactions: Guidelines for Optimization and Assay Performance.
Clinics in laboratory medicineNatural history & quality of life in Glanzmann thrombasthenia & Bernard Soulier syndrome: An observational study from India.
The Indian journal of medical researchUnclassified Versus Well-defined Platelet Function Disorders: A Multicenter Comparison of Bleeding Patterns and Treatment.
Journal of pediatric hematology/oncologyThe co-inheritance of two ITGB3 variants with additive detrimental effects on platelets leads to variant Glanzmann thrombasthenia.
HaematologicaEuropean Management of Glanzmann's Thrombasthenia: A Survey of Current Clinical Practice.
Haemophilia : the official journal of the World Federation of HemophiliaMixed Chimerism and Clinical Outcome of Hematopoietic Stem Cell Transplantation in Glanzmann Thrombasthenia: Experience on 2 Siblings and Literature Review.
Journal of pediatric hematology/oncologyManagement of pregnancy and childbirth in Glanzmann thrombasthenia: A case series and review.
British journal of haematologyOutcomes of recombinant activated factor VIIa (NovoSeven) therapy in glanzmann thrombasthenia: two case reports.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisAutomated Quantitative Immunofluorescence Microscopy Approach for Diagnosis of Hereditary Thrombopathies: A Proof of Concept Using Bernard-Soulier Syndrome and Glanzmann Thrombasthenia.
GenesGlanzmann thrombasthenia: a multi-center study of demographics, clinical spectrum, and treatment efficacy.
European journal of pediatricsConcomitant Systemic Lupus Erythematosus and Glanzmann Thrombocytopenia: A Case Report and Literature Review.
Case reports in rheumatologyNovel homozygous frameshift mutation of ITGB3 in the Glanzmann thrombasthenia patient with abnormal bone metabolism and congenital bone defects.
Orphanet journal of rare diseasesProteomic analysis indicates lower abundance of platelet α-granule proteins in Glanzmann thrombasthenia.
Journal of thrombosis and haemostasis : JTHPlatelet-activating histone/antihistone IgG complexes in anti-PF4-negative thrombosis and thrombocytopenia syndrome.
Blood advancesManagement of a twin pregnancy patient with Glanzmann thrombasthenia might be caused by a novel ITGA2B gene mutation (c.2822G>A): a case report and family investigation.
PlateletsHematological Evaluation and Management of Menorrhagia in Adolescents: Lessons from Adolescent Heavy Menstrual Bleeding Clinics.
Acta haematologicaA Novel Variant of the FERMT3 Gene Associated With Leukocyte Adhesion Deficiency Type III (LAD-III) in a Saudi Family: A Case Series.
CureusManagement challenge of a rare concomitant platelet glycoprotein IV/CD36 and IIb/IIIa deficiencies: Case illustration.
TransfusionDifficult management of abnormal uterine bleeding in Glanzmann thrombasthenia.
BMJ case reportsThe Diagnostic Assessment of Platelet Function Defects - Part 2: Update on Platelet Disorders.
HamostaseologieGlanzmann Thrombasthenia in a Newborn Due to a Rare Homozygous Missense Mutation.
CureusHemorrhagic cholecystitis afflicted with glanzmann thrombasthenia patient.
Journal of family medicine and primary careBleeding Phenotype of Glanzmann Thrombasthenia (GT) and Treatment Outcomes in Over One Hundred Patients: A Two-Center Experience in North Pakistan.
CureusOral invasive procedures in Glanzmann thrombasthenia: a retrospective observational study.
Research and practice in thrombosis and haemostasisGastrointestinal Bleeding/Angiodysplasia in Patients With Glanzmann Thrombasthenia.
Journal of medical casesEfficacy and safety of recombinant activated factor VII in Glanzmann thrombasthenia: A systematic literature review.
Haemophilia : the official journal of the World Federation of HemophiliaClinical Management of a Rare Hereditary Bleeding Disorder in an Adult: Glanzmann Thrombasthenia.
CureusOne day at a time: Life with Glanzmann thrombasthenia - Qualitative results from the GT 360 study.
Haemophilia : the official journal of the World Federation of HemophiliaBleeding and quality of life in people with Glanzmann thrombasthenia-insights from the Glanzmann's 360 study.
Research and practice in thrombosis and haemostasisImlifidase Utilization in Glanzmann Thrombasthenia With Anti-GPIIb/IIIa and Anti-HLA Alloimmunization and Severe Platelet Refractoriness Following Hematopoietic Stem Cell Transplant.
Pediatric blood & cancerDental Management of Seven-Year-Old Child With Glanzmann Thrombasthenia: A Case Report.
CureusManagement of Abdominal Aortic Aneurysm Surgery in Glanzmann's Thrombasthenia Patients with Anti-GPIIb-IIIa Antibodies: A Case Report.
Journal of clinical medicineMolecular dynamics simulations involving different β-propeller mutations reported in Swiss and French patients correlate with their disease phenotypes.
Scientific reportsA bispecific antibody approach for the potential prophylactic treatment of inherited bleeding disorders.
Nature cardiovascular researchA rare case of glanzmann thrombasthenia with concomitant factor VII deficiency.
Annals of hematologyCatheter Intervention in a Patient with Intracranial Aneurysms and Glanzmann Thrombasthenia Caused by a Novel Homozygous Likely Pathogenic Variant in the ITGA2B Gene.
Diseases (Basel, Switzerland)[Pedigree Analysis and Molecular Mechanism Study of Hereditary Glanzmann Thrombasthenia Caused by Compound Heterozygous Mutation of the ITGA2B Gene].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhiTargeting tissue factor pathway inhibitor with concizumab to improve hemostasis in patients with Glanzmann thrombasthenia: an in vitro study.
Journal of thrombosis and haemostasis : JTHOral surgery in people with inherited bleeding disorder: A retrospective study.
Haemophilia : the official journal of the World Federation of HemophiliaPregnancy and childbirth in patients with Glanzmann Thrombasthenia.
British journal of haematologyShould HLA and HPA-matched platelet transfusions for patients with Glanzmann Thrombasthenia or Bernard-Soulier syndrome be standardized care? A Dutch survey and recommendations.
TransfusionISTH bleeding assessment tool and platelet function analyzer in children with mild inherited platelet function disorders.
European journal of haematologyGlanzmann Thrombasthenia 10 Years Later: Progress Made and Future Directions.
Seminars in thrombosis and hemostasisFrequency, clinical, and laboratory findings of platelet secretion disorders in patients referred to the specialized coagulation laboratory of the Iranian Blood Transfusion Organization.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisImmune gene polymorphisms associated with poor response to platelet transfusion and recombinant factor VII administration in Glanzmann thrombasthenia.
Haemophilia : the official journal of the World Federation of HemophiliaFibrin glue in managing intractable gingival bleeding in patients with inherited bleeding disorders-a quasi-experimental pilot study.
JPMA. The Journal of the Pakistan Medical AssociationPatient with a history of Glanzmann thrombasthenia presented with chronic subdural hematoma: a case report study.
Oxford medical case reportsBleeding disorders in Saudi Arabia, causes and prevalence: a review.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisAssociation of laboratory test results with the bleeding history in patients with inherited platelet function disorders (the Bleeding Assesment Tool - LABoratory tests substudy): communication from the Platelet Physiology ISTH-SSC.
Research and practice in thrombosis and haemostasisIn vitro characterization of rare anti-αIIbβ3 isoantibodies produced by patients with Glanzmann thrombasthenia that severely block fibrinogen binding and generate procoagulant platelets via complement activation.
Research and practice in thrombosis and haemostasisTwo case reports of Glanzmann thrombasthenia with intracranial hemorrhage and a review of the literature.
Surgical neurology internationalWhen Glanzmann thrombasthenia encounters antithrombin deficiency: how do we balance the risk and benefit of antithrombotic therapy?
World journal of emergency medicineDouble jeopardy, glomangiopericytoma and Glanzmann thrombasthenia resulting in recurrent epistaxis: a case report.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisTwins With an Identical Novel Mutation in ITGB3: A Case Report of Glanzmann Thrombasthenia-like Syndrome.
Annals of laboratory medicineTargeted long-read sequencing identifies and characterizes structural variants in cases of inherited platelet disorders.
Journal of thrombosis and haemostasis : JTHMultidisciplinary management of a pregnancy complicated by Glanzmann thrombasthenia: A case report.
TransfusionGlanzmann Thrombasthenia Associated with Siderotic Synovitis and Arthropathy: A Case Report.
Journal of blood medicinePrimary Hemostasis Disorders as a Cause of Heavy Menstrual Bleeding in Women of Reproductive Age.
Journal of clinical medicineFlow cytometry immunophenotyping of healthy platelets and hospitalized patients with suspected platelet dysfunction: Challenges for establishing a cutoff value.
Hematology, transfusion and cell therapySINE-VNTR-Alu retrotransposon insertion as a novel mutational event underlying Glanzmann thrombasthenia.
Journal of thrombosis and haemostasis : JTHEmergency cesarean section in glanzmann thrombasthenia: Anaesthetic management without recombinant factor VIIa.
Saudi journal of anaesthesiaHemorrhage of Upper Digestive and Respiratory Tracts in a Child with Glanzmann Thrombasthenia.
MaedicaMulticolor flow cytometry in clinical samples for platelet signaling assessment.
Research and practice in thrombosis and haemostasisApixaban for treatment of venous thromboembolism in an obese patient with Glanzmann thrombasthenia.
Research and practice in thrombosis and haemostasisAntagonistic Roles of Human Platelet Integrin αIIbβ3 and Chemokines in Regulating Neutrophil Activation and Fate on Arterial Thrombi Under Flow.
Arteriosclerosis, thrombosis, and vascular biologyVaginal Delivery in a Primipara with Glanzmann Thrombasthenia.
Maternal-fetal medicine (Wolters Kluwer Health, Inc.)Current status and future prospects of activated recombinant coagulation factor VIIa, NovoSeven®, in the treatment of haemophilia and rare bleeding disorders.
Annals of hematologyEmergency management of patients with Glanzmann thrombasthenia: consensus recommendations from the French reference center for inherited platelet disorders.
Orphanet journal of rare diseasesMolecular dynamics simulations corroborate recombinant expression studies carried out on three αIIb β-propeller mutations reported in Indian Glanzmann thrombasthenia patients.
Journal of cellular biochemistryMonozygotic twin cases of endometriosis with Glanzmann thrombasthenia: a case report and review of literature.
Orphanet journal of rare diseasesThe GPIIb-IIIa defect of platelets in Glanzmann thrombasthenia.
HaematologicaThe Glanzmann Thrombasthenia Registry: safety of platelet therapy in patients with Glanzmann thrombasthenia and changes in alloimmunization status.
HaematologicaA single F153Sβ3 mutation causes constitutive integrin αIIbβ3 activation in a variant form of Glanzmann thrombasthenia.
Blood advancesUnexplained bruising in an infant: Glanzmann thrombasthenia.
Clinical and experimental dermatologyNovel homozygous silent mutation of ITGB3 gene caused Glanzmann thrombasthenia.
Frontiers in pediatricsGlanzmann Thrombasthenia in Pakistani Patients: Identification of 7 Novel Pathogenic Variants in the Fibrinogen Receptor αIIbβ3.
CellsGlanzmann thrombasthenia: Use of hemocoagulase (BotroClot) for arrest of bleeding during a primary tooth endodontic procedure.
Indian journal of dental research : official publication of Indian Society for Dental ResearchA Trp11Arg Substitution in the β3 Signal Peptide Prevents Expression of αIIbβ3 in Patients with Glanzmann Thrombasthenia.
Thrombosis and haemostasisDetection of alloimmunization in Glanzmann Thrombasthenia and Bernard-Soulier Syndrome: Data from a Brazilian Center.
Hematology, transfusion and cell therapyHigh Rates of Anti-αIIbβ3 Antibodies Produced by a Glanzmann Thrombasthenia Patient after First and Unique Red Blood Cells Administration.
Acta haematologicaEfficacy of octreotide in the treatment of gastrointestinal angiodysplasia in a patient with Glanzmann thrombasthenia.
Transfusion medicine (Oxford, England)Glanzmann thrombasthenia: an uncommon cause of acute upper gastrointestinal bleeding.
Revista espanola de enfermedades digestivasAssociation of autosomal-recessive-type distal renal tubular acidosis and Glanzmann thrombasthenia as a consequence of runs of homozygosity.
Clinical case reportsUtility of the ISTH bleeding assessment tool (BAT) in diagnosis of Glanzmann Thrombasthenia patients.
Pakistan journal of medical sciencesDiagnostic workup of inherited platelet disorders.
Blood researchIron deficiency anemia and bleeding management in pediatric patients with Bernard-Soulier syndrome and Glanzmann Thrombasthenia: A single-institution analysis.
Haemophilia : the official journal of the World Federation of HemophiliaNovel variants for Glanzmann thrombasthenia manifesting with purpura at birth.
Pediatrics international : official journal of the Japan Pediatric SocietyPregnancy and Delivery Management With Recombinant Factor VIIa in a Glanzmann Thrombasthenia Patient: A Case Report.
CureusHow I manage pregnancy in women with Glanzmann thrombasthenia.
BloodActivated Platelets Upregulate β2 Integrin Mac-1 (CD11b/CD18) on Dendritic Cells, Which Mediates Heterotypic Cell-Cell Interaction.
Journal of immunology (Baltimore, Md. : 1950)Stability and utility of flow cytometric platelet activation tests: A modality to bridge the gap between diagnostic demand and supply.
PlateletsAnti-platelet treatment challenges in Glanzmann thrombasthenia-clinical practice when data lacks.
Haemophilia : the official journal of the World Federation of HemophiliaExcellent Outcome Following Sibling Peripheral Blood Hematopoietic Stem Cell Transplantation for Glanzmann Thrombasthenia: A Case Report.
Frontiers in pediatricsElevated CD9 expression as a potential biomarker for diagnosis of Bernard-Soulier syndrome.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisAnalysis of Integrin αIIb Subunit Dynamics Reveals Long-Range Effects of Missense Mutations on Calf Domains.
International journal of molecular sciencesBlood management strategies in congenital Glanzmann thrombasthenia at a hematology referral center.
Blood researchGlanzmann Thrombasthenia: Use of the Soft Splint with Tranexamic Acid Paste to Reduce Spontaneous Oral Bleeding.
International journal of clinical pediatric dentistryManagement of High-Grade Coronary Artery Disease and Concomitant Glanzmann Thrombasthenia.
JACC. Case reportsPlatelet binding to polymerizing fibrin is avidity driven and requires activated αIIbβ3 but not fibrin cross-linking.
Blood advancesGlanzmann thrombasthenia complicated by frequent myeloproliferative neoplasm-related thromboembolism: thrombosis occurring regardless of αIIbβIII integrin deficiency.
Clinical case reportsCase Report: A Case of Leukocyte Adhesion Deficiency, Type III Presenting With Impaired Platelet Function, Lymphocytosis and Granulocytosis.
Frontiers in pediatricsClot Retraction: Cellular Mechanisms and Inhibitors, Measuring Methods, and Clinical Implications.
BiomedicinesBernard Soulier syndrome: a rare, frequently misdiagnosed and poorly managed bleeding disorder.
BMJ case reportsAutoimmune disorders of platelet function: systematic review of cases of acquired Glanzmann thrombasthenia and acquired delta storage pool disease.
Blood transfusion = Trasfusione del sangueNew αIIbβ3 variants in 28 Turkish Glanzmann patients; structural hypothesis for complex activation by residues variations in I-EGF domains.
PlateletsProfiling the Genetic and Molecular Characteristics of Glanzmann Thrombasthenia: Can It Guide Current and Future Therapies?
Journal of blood medicineNext-Generation Sequencing Based Approach to Identify Underlying Genetic Defects of Glanzmann Thrombasthenia.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionA comparative study between light transmission aggregometry and flow cytometric platelet aggregation test for the identification of platelet function defects in patients with bleeding.
Blood researchGlanzmann Thrombasthenia: Perspectives from Clinical Practice on Accurate Diagnosis and Optimal Treatment Strategies.
Journal of blood medicineGenetic Confirmation and Identification of Novel Variants for Glanzmann Thrombasthenia and Other Inherited Platelet Function Disorders: A Study by the Korean Pediatric Hematology Oncology Group (KPHOG).
GenesFlow cytometric analysis of platelet surface glycoproteins in the diagnosis of thirty-two Turkish patients with Glanzmann thrombasthenia: a multicenter experience.
Turkish journal of medical sciencesItgb3-integrin-deficient mice may not be a sufficient model for patients with Glanzmann thrombasthenia.
Molecular medicine reportsWeekly low-dose recombinant factor VIIa prophylaxis in Glanzmann thrombasthenia.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisMutations in RASGRP2 gene identified in patients misdiagnosed as Glanzmann thrombasthenia patients.
Blood cells, molecules & diseasesInherited Bleeding Disorders in Pediatric Patients; experience of the national referral center in Iraq.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionGene Therapy for Inherited Bleeding Disorders.
Seminars in thrombosis and hemostasisUse of rFVIIa in Preventing Recurrent Intra-articular Hemorrhages in a 15-Year-Old Patient With Glanzmann Thrombasthenia.
Journal of pediatric hematology/oncologySpecifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel.
Blood advancesUtility of the Platelet Function Analyzer in Patients with Suspected Platelet Function Disorders: Diagnostic Accuracy Study.
TH open : companion journal to thrombosis and haemostasisCharacterization of Procoagulant COAT Platelets in Patients with Glanzmann Thrombasthenia.
International journal of molecular sciencesαIIbβ3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrum.
PloS oneA Comprehensive Review of Congenital Platelet Disorders, Thrombocytopenias and Thrombocytopathies.
CureusNonredundant Roles of Platelet Glycoprotein VI and Integrin αIIbβ3 in Fibrin-Mediated Microthrombus Formation.
Arteriosclerosis, thrombosis, and vascular biologyA novel heterozygous mutation flanking the fourth calcium-binding domain of the ITGA2B gene induces severe bleeding complications: a case report and literature review.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisInherited platelet diseases with normal platelet count: phenotypes, genotypes and diagnostic strategy.
HaematologicaWhy thromboembolism occurs in some patients with thrombocytopenia and treatment strategies.
Thrombosis researchImmunization against αIIb β3 and αv β3 in Glanzmann thrombasthenia patients carrying the French Gypsy mutation.
Journal of thrombosis and haemostasis : JTHManagement of Refractory Menstrual Bleeding in an Adolescent with Glanzmann Thrombasthenia: A Case Report and Review.
Case reports in obstetrics and gynecologyDisease Burden in Patients with Glanzmann's Thrombasthenia: Perspectives from the Glanzmann's Thrombasthenia Patient/Caregiver Questionnaire.
Journal of blood medicineComplementary roles of platelet αIIbβ3 integrin, phosphatidylserine exposure and cytoskeletal rearrangement in the release of extracellular vesicles.
AtherosclerosisFerric carboxymaltose for sub-acute and chronic iron deficiency anemia in inherited platelet function defects.
Internal and emergency medicineFeminizing Genitoplasty in a young girl with Glanzmann's thrombasthenia-management of haemostasis.
JPMA. The Journal of the Pakistan Medical AssociationCOVID-19 in a pediatric patient with Glanzmann thrombasthenia.
Pediatric blood & cancerNaturally occurring point mutation Cys460Trp located in the I-EGF1 domain of integrin β3 alters the binding of some anti-HPA-1a antibodies.
TransfusionA microchip flow-chamber assay screens congenital primary hemostasis disorders.
Pediatrics international : official journal of the Japan Pediatric SocietyA novel missense variant in the RASGRP2 gene in patients with moderate to severe bleeding disorder.
PlateletsGlycophorin A-based exclusion of red blood cells for flow cytometric analysis of platelet glycoprotein expression in citrated whole blood.
Clinical chemistry and laboratory medicineBleeding phenotype and diagnostic characterization of patients with congenital platelet defects.
American journal of hematologyTwo homozygous missense mutations in ITGB3 gene as a cause of Glanzmann Thrombasthenia in four consanguineous Pakistani pedigrees.
International journal of laboratory hematologyHeterogeneity of Integrin αIIbβ3 Function in Pediatric Immune Thrombocytopenia Revealed by Continuous Flow Cytometry Analysis.
International journal of molecular sciencesIntegrin β3 Deficiency Results in Hypertriglyceridemia via Disrupting LPL (Lipoprotein Lipase) Secretion.
Arteriosclerosis, thrombosis, and vascular biologyLong-term treatment with thalidomide for severe recurrent hemorrhage from intestinal angiodysplasia in Glanzmann Thrombasthenia.
PlateletsGlanzmann thrombasthenia: genetic basis and clinical correlates.
HaematologicaIdentification of three novel pathogenic ITGA2B and one novel pathogenic ITGB3 mutations in patients with hereditary Glanzmann's thrombasthenia living in Eastern Turkey.
PlateletsLessons Learned: Deformity Correction and Tibiotalocalcaneal Arthrodesis in a Patient With Glanzmann Thrombasthenia: A Case Report.
JBJS case connectorMenstrual and obstetrical bleeding in women with inherited platelet receptor defects-A systematic review.
Haemophilia : the official journal of the World Federation of HemophiliaClinical Applications, Pitfalls, and Uncertainties of Thrombin Generation in the Presence of Platelets.
Journal of clinical medicineAcquired Glanzmann thrombasthenia associated with platelet desialylation.
Journal of thrombosis and haemostasis : JTHPrevalence of the Mutations Responsible for Glanzmann Thrombasthenia in Horses in Brazil.
Animals : an open access journal from MDPISuccessful Use of Hematopoietic Stem Cell Transplantation for 2 Pediatric Cases of Glanzmann Thrombasthenia and Review of the Literature.
Journal of pediatric hematology/oncologyKnock-in mice bearing constitutively active αIIb(R990W) mutation develop macrothrombocytopenia with severe platelet dysfunction.
Journal of thrombosis and haemostasis : JTHUnique case of successful surgical treatment of recurrent spinal epidural hematoma after lumbar disc surgery in a Glanzmann thrombasthenia patient.
British journal of neurosurgeryRituximab for treatment of autoimmune acquired platelet function disorders: description of two cases of acquired Glanzmann thrombasthenia and one case of acquired delta storage pool disease.
British journal of haematologyA Successful Renal Transplant in a Pediatric Patient With Glanzmann Thrombasthenia and Hyperimmunization.
Experimental and clinical transplantation : official journal of the Middle East Society for Organ TransplantationA Glanzmann thrombasthenia family associated with a TUBB1-related macrothrombocytopenia.
Journal of thrombosis and haemostasis : JTHThe International Prospective Glanzmann Thrombasthenia Registry: Pediatric Treatment and Outcomes.
TH open : companion journal to thrombosis and haemostasisTriple jeopardy: A case of Glanzmann's thrombasthenia with anti-GPIIb-IIIa antibodies and HPA incompatibility resulting in stillbirth.
Thrombosis researchRibociclib Causing Transient Glanzmann Thrombasthenia-like Picture: A Report of 4 Cases.
Clinical breast cancerIdentification of one novel pathogenic ITGB3 mutation and two known mutations in two Chinese pedigrees with hereditary Glanzmann thrombasthenia.
PlateletsPerioperative Hemostatic Management of a Pediatric Patient with Glanzmann Thrombasthenia Undergoing Osteoplastic Craniotomy and Hematoma Removal: A Case Report.
Acta haematologicaSphenopalatine Artery Ligation for Life-Threatening Epistaxis in a 4-Year-Old Child With Glanzmann Thrombasthenia.
Ear, nose, & throat journalMolecular genetic diagnosis of Glanzmann syndrome in Iranian population; reporting novel and recurrent mutations.
Orphanet journal of rare diseasesAcquired Glanzmann thrombasthenia: From antibodies to anti-platelet drugs.
Blood reviewsFirst description of an IgM monoclonal antibody causing αIIb β3 integrin activation and acquired Glanzmann thrombasthenia associated with macrothrombocytopenia.
Journal of thrombosis and haemostasis : JTHGlanzmann Thrombasthenia in a Newborn with Heterozygous Factor V Leiden and Heterozygous MTHFR C677T Gene Mutations.
Indian pediatricsMolecular yield of targeted sequencing for Glanzmann thrombasthenia patients.
NPJ genomic medicineGlanzmann Thrombasthenia in Children: Experience From a Tertiary Care Center in Southern India.
Journal of pediatric hematology/oncologySevere Intestinal Bleeding in a Woman with Glanzmann Thrombasthenia.
European journal of case reports in internal medicineDelayed Diagnosis of Atypical Presentation of Myasthenia Gravis.
European journal of case reports in internal medicineOral tranexamic acid associated with platelet transfusion to prevent hemorrhage in a patient with Glanzmann thrombasthenia.
General dentistryLow Concentrations of Recombinant Factor VIIa May Improve the Impaired Thrombin Generation of Glanzmann Thrombasthenia Patients.
Thrombosis and haemostasisMissed at first Glanz: Glanzmann thrombasthenia initially misdiagnosed as Von Willebrand Disease.
Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for HaemapheresisHigh-throughput elucidation of thrombus formation reveals sources of platelet function variability.
HaematologicaCombination of acquired von Willebrand syndrome (AVWS) and Glanzmann thrombasthenia in monoclonal gammopathy of uncertain significance (MGUS), a case report.
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- The International Society on Thrombosis and Haemostasis Bleeding Assessment Tool's Usefulness as a Screening Questionnaire for Diagnosing and Assessing the Severity of Glanzmann Thrombasthenia in Children from Northeast Egypt.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion· 2026· PMID 41728181mais citado
- Clinicopathological Spectrum of Functional Platelet Disorders Diagnosed Using Light Transmission Aggregometry.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion· 2026· PMID 41728151mais citado
- Diagnostic challenges in inherited platelet disorders in sub-Saharan Africa: first clinical case study of seven patients in Senegal.Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis· 2026· PMID 41630424mais citado
- ITGA2B/ITGB3-Related Macrothrombocytopenia Associated With Gain-of-Function Mutations in ITGA2B or ITGB3 Genes.
- Inherited Platelet Disorders During Pregnancy and Delivery: Overview of Management Strategies and Emerging Therapeutic Considerations.
- Rare Bleeding Disorders and Bleeding Disorder of Unknown Cause: Current Understanding and Recent Developments.
- Platelet transfusion refractoriness in Glanzmann thrombasthenia: a case report with literature review.
- Congenital thrombopathies in southern Tunisia : A multicenter study.
- Neonatal Glanzmann's Thrombasthenia Presenting as Refractory Post-circumcision Hemorrhage in a Region of High Consanguinity: A Case Report.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:849(Orphanet)
- MONDO:0100326(MONDO)
- GARD:2478(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q1529258(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
