Raras
Buscar doenças, sintomas, genes...
Trombastenia de Glanzmann
ORPHA:849CID-10 · D69.1CID-11 · 3B62.0YDOENÇA RARA

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.

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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.

Pesquisas ativas
6 ensaios
57 total registrados no ClinicalTrials.gov
Publicações científicas
596 artigos
Último publicado: 2026 Apr 16
Medicamentos
1 registrados
EPTACOG ALFA (ACTIVATED)

Tem tratamento?

1 medicamento registrado
Ver detalhes, fases e interações →
EPTACOG ALFA (ACTIVATED)

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
Infancy
+ neonatal
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: D69.1
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🩸
Sangue
10 sintomas
🫃
Digestivo
1 sintomas
🫘
Rins
1 sintomas

+ 19 sintomas em outras categorias

Características mais comuns

90%prev.
Tempo de sangramento prolongado
Muito frequente (99-80%)
90%prev.
Epistaxe espontânea e recorrente
Muito frequente (99-80%)
55%prev.
Sangramento gengival
Frequente (79-30%)
55%prev.
Sangramento prolongado após circuncisão
Frequente (79-30%)
55%prev.
Sangramento prolongado após cirurgia
Frequente (79-30%)
55%prev.
Suscetibilidade a hematomas
Frequente (79-30%)
31sintomas
Muito frequente (2)
Frequente (4)
Ocasional (7)
Muito raro (7)
Sem dados (11)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 31 características clínicas mais associadas, ordenadas por frequência.

Tempo de sangramento prolongadoProlonged bleeding time
Muito frequente (99-80%)90%
Epistaxe espontânea e recorrenteSpontaneous, recurrent epistaxis
Muito frequente (99-80%)90%
Sangramento gengivalGingival bleeding
Frequente (79-30%)55%
Sangramento prolongado após circuncisãoProlonged bleeding following circumcision
Frequente (79-30%)55%
Sangramento prolongado após cirurgiaProlonged bleeding after surgery
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico596PubMed
Últimos 10 anos200publicações
Pico202433 papers
Linha do tempo
2026Hoje · 2026🧪 2004Primeiro ensaio clínico📈 2024Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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.

ITGB3Integrin beta-3Disease-causing germline mutation(s) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Cell membraneCell projection, lamellipodium membraneCell junction, focal adhesionPostsynaptic cell membraneSynapse

VIAS BIOLÓGICAS (10)
Paradoxical activation of RAF signaling by kinase inactive BRAFSignaling by moderate kinase activity BRAF mutantsSignaling by high-kinase activity BRAF mutantsSignaling downstream of RAS mutantsMAP2K and MAPK activation
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Aorta
59.1 TPM
Tireoide
48.5 TPM
Artéria tibial
43.2 TPM
Artéria coronária
29.9 TPM
Cólon sigmoide
27.6 TPM
OUTRAS DOENÇAS (6)
Glanzmann thrombasthenia 2bleeding disorder, platelet-type, 24obsolete Glanzmann's thrombastheniaGlanzmann thrombasthenia
HGNC:6156UniProt:P05106
ITGA2BIntegrin alpha-IIbDisease-causing germline mutation(s) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Cell membrane

VIAS BIOLÓGICAS (1)
Platelet degranulation
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Tecido-específico)
Sangue
32.7 TPM
Baço
16.6 TPM
Testículo
10.5 TPM
Tireoide
9.6 TPM
Cerebelo
8.9 TPM
OUTRAS DOENÇAS (6)
Glanzmann thrombasthenia 1platelet-type bleeding disorder 16obsolete Glanzmann's thrombastheniaGlanzmann thrombasthenia
HGNC:6138UniProt:P08514

Medicamentos e terapias

EPTACOG ALFA (ACTIVATED)Phase 4

Mecanismo: Coagulation factor VII exogenous protein

Ver mais no OpenTargets

Variantes genéticas (ClinVar)

596 variantes patogênicas registradas no ClinVar.

🧬 ITGA2B: NM_000419.5(ITGA2B):c.281dup (p.Gln95fs) ()
🧬 ITGA2B: NM_000419.5(ITGA2B):c.2678del (p.Phe893fs) ()
🧬 ITGA2B: NM_000419.5(ITGA2B):c.934C>T (p.Arg312Cys) ()
🧬 ITGA2B: NM_000419.5(ITGA2B):c.482G>A (p.Cys161Tyr) ()
🧬 ITGA2B: NM_000419.5(ITGA2B):c.703_704del (p.Phe235fs) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 1,180 variantes classificadas pelo ClinVar.

649
531
VUS (55.0%)
Benigna (45.0%)
VARIANTES MAIS SIGNIFICATIVAS
ITGA2B: NM_000419.5(ITGA2B):c.799G>A (p.Gly267Arg) [Uncertain significance]
ITGA2B: NM_000419.5(ITGA2B):c.1967T>C (p.Val656Ala) [Uncertain significance]
ITGA2B: NM_000419.5(ITGA2B):c.559G>A (p.Val187Met) [Uncertain significance]
ITGA2B: NM_000419.5(ITGA2B):c.1693A>G (p.Asn565Asp) [Uncertain significance]
ITGA2B: NM_000419.5(ITGA2B):c.2461G>A (p.Gly821Ser) [Uncertain significance]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
Aprovado1
2Fase 24
1Fase 11
·Pré-clínico10
Medicamentos catalogadosEnsaios clínicos· 1 medicamento · 15 ensaios
✓ Aprovados — podem ser usados hoje
EPTACOG ALFA (ACTIVATED)
Carregando informações de tratamento...

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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Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

🟢 Recrutando agora

4 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

57 ensaios clínicos encontrados, 6 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
272 papers (10 anos)
#1

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 &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion2026 Mar

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.

#2

Clinicopathological Spectrum of Functional Platelet Disorders Diagnosed Using Light Transmission Aggregometry.

Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion2026 Mar

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.

#3

Diagnostic challenges in inherited platelet disorders in sub-Saharan Africa: first clinical case study of seven patients in Senegal.

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis2026 Feb 03

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.

#4

ITGA2B/ITGB3-Related Macrothrombocytopenia Associated With Gain-of-Function Mutations in ITGA2B or ITGB3 Genes.

Journal of cellular and molecular medicine2026 Jan

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.

#5

Inherited Platelet Disorders During Pregnancy and Delivery: Overview of Management Strategies and Emerging Therapeutic Considerations.

Hematology reports2026 Feb 26

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

Ver todas no PubMed

📚 EuropePMC376 artigos no totalmostrando 200

2026

Inherited Platelet Disorders During Pregnancy and Delivery: Overview of Management Strategies and Emerging Therapeutic Considerations.

Hematology reports
2026

Monoclonal Gammopathies of Thrombotic and Hemorrhagic Significance: Mapping into a classification schema.

Journal of thrombosis and haemostasis : JTH
2026

Neonatal Glanzmann's Thrombasthenia Presenting as Refractory Post-circumcision Hemorrhage in a Region of High Consanguinity: A Case Report.

Cureus
2026

A Novel Homozygous ITGA2B Variant Associated With Recurrent Epistaxis in a Four-Year-Old Girl: A Case Report.

Cureus
2026

Management 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 Strabismus
2026

Interlaboratory 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 : JTH
2026

Glanzmann thrombasthenia presenting with upper gastrointestinal bleeding: a case series and review of the literature.

Frontiers in medicine
2026

Managing massive gastrointestinal and abdominal haemorrhage in inherited bleeding disorders: experience from a pediatric cohort.

International journal of hematology
2026

Hemostatic rescue with rFVIIa in Bernard-Soulier syndrome refractory to HLA-matched platelet transfusion.

Annals of hematology
2026

Clinical and Genetic Characterization of 269 Patients With Suspected Inherited Platelet Disorders: The Padua Monocentric Experience.

International journal of laboratory hematology
2026

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 &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
2026

Clinicopathological Spectrum of Functional Platelet Disorders Diagnosed Using Light Transmission Aggregometry.

Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
2026

Diagnostic challenges in inherited platelet disorders in sub-Saharan Africa: first clinical case study of seven patients in Senegal.

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis
2026

The use of light transmission aggregometry for monitoring platelet transfusion response in a small case cohort of Glanzmann thrombasthenia patients: a hypothesis-generating study.

Platelets
2026

Pulmonary thromboembolism in Glanzmann Thrombasthenia: a case report and systematic literature review.

Annals of hematology
2026

Novel compound heterozygous ITGA2B mutations in Glanzmann thrombasthenia associated with adolescent osteoporosis.

Platelets
2026

ITGA2B/ITGB3-Related Macrothrombocytopenia Associated With Gain-of-Function Mutations in ITGA2B or ITGB3 Genes.

Journal of cellular and molecular medicine
2026

International 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 Hemophilia
2025

Functional classification of platelet gene variants using CRISPR HDR in CD34+ cell-derived megakaryocytes.

American journal of human genetics
2025

When it's not Glanzmann thrombasthenia or Bernard-Soulier syndrome: diagnosing other qualitative platelet disorders.

Hematology. American Society of Hematology. Education Program
2025

Molecular Pathogenesis of Inherited Platelet Dysfunction.

Biomolecules
2025

Perioperative 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 health
2026

Management of Severe Menorrhagia in an Adolescent with Glanzmann Thrombasthenia: A Case Report and Treatment Approach.

Journal of pediatric and adolescent gynecology
2026

Characterising Glanzmann Thrombasthenia in the United States: Real-World Data From the EPIC Cosmos Dataset.

Haemophilia : the official journal of the World Federation of Hemophilia
2025

Use of a conditional Glanzmann thrombasthenia mouse model reveals a supportive and possibly non-adhesive role for TLT-1 in the platelet-fibrinogen interaction.

Platelets
2025

Panophthalmitis in a case of Glanzmann thrombasthenia - The dilemma in diagnosis.

Romanian journal of ophthalmology
2025

Flow Cytometry Assessment of Platelet Phenotype, Function, and Cellular Interactions: Guidelines for Optimization and Assay Performance.

Clinics in laboratory medicine
2025

Natural history & quality of life in Glanzmann thrombasthenia & Bernard Soulier syndrome: An observational study from India.

The Indian journal of medical research
2025

Unclassified Versus Well-defined Platelet Function Disorders: A Multicenter Comparison of Bleeding Patterns and Treatment.

Journal of pediatric hematology/oncology
2026

The co-inheritance of two ITGB3 variants with additive detrimental effects on platelets leads to variant Glanzmann thrombasthenia.

Haematologica
2025

European Management of Glanzmann's Thrombasthenia: A Survey of Current Clinical Practice.

Haemophilia : the official journal of the World Federation of Hemophilia
2025

Mixed Chimerism and Clinical Outcome of Hematopoietic Stem Cell Transplantation in Glanzmann Thrombasthenia: Experience on 2 Siblings and Literature Review.

Journal of pediatric hematology/oncology
2025

Management of pregnancy and childbirth in Glanzmann thrombasthenia: A case series and review.

British journal of haematology
2025

Outcomes of recombinant activated factor VIIa (NovoSeven) therapy in glanzmann thrombasthenia: two case reports.

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis
2025

Automated Quantitative Immunofluorescence Microscopy Approach for Diagnosis of Hereditary Thrombopathies: A Proof of Concept Using Bernard-Soulier Syndrome and Glanzmann Thrombasthenia.

Genes
2025

Glanzmann thrombasthenia: a multi-center study of demographics, clinical spectrum, and treatment efficacy.

European journal of pediatrics
2025

Concomitant Systemic Lupus Erythematosus and Glanzmann Thrombocytopenia: A Case Report and Literature Review.

Case reports in rheumatology
2025

Novel homozygous frameshift mutation of ITGB3 in the Glanzmann thrombasthenia patient with abnormal bone metabolism and congenital bone defects.

Orphanet journal of rare diseases
2025

Proteomic analysis indicates lower abundance of platelet α-granule proteins in Glanzmann thrombasthenia.

Journal of thrombosis and haemostasis : JTH
2025

Platelet-activating histone/antihistone IgG complexes in anti-PF4-negative thrombosis and thrombocytopenia syndrome.

Blood advances
2025

Management 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.

Platelets
2025

Hematological Evaluation and Management of Menorrhagia in Adolescents: Lessons from Adolescent Heavy Menstrual Bleeding Clinics.

Acta haematologica
2025

A Novel Variant of the FERMT3 Gene Associated With Leukocyte Adhesion Deficiency Type III (LAD-III) in a Saudi Family: A Case Series.

Cureus
2025

Management challenge of a rare concomitant platelet glycoprotein IV/CD36 and IIb/IIIa deficiencies: Case illustration.

Transfusion
2025

Difficult management of abnormal uterine bleeding in Glanzmann thrombasthenia.

BMJ case reports
2025

The Diagnostic Assessment of Platelet Function Defects - Part 2: Update on Platelet Disorders.

Hamostaseologie
2024

Glanzmann Thrombasthenia in a Newborn Due to a Rare Homozygous Missense Mutation.

Cureus
2024

Hemorrhagic cholecystitis afflicted with glanzmann thrombasthenia patient.

Journal of family medicine and primary care
2024

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

Cureus
2024

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

Research and practice in thrombosis and haemostasis
2024

Gastrointestinal Bleeding/Angiodysplasia in Patients With Glanzmann Thrombasthenia.

Journal of medical cases
2025

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

Haemophilia : the official journal of the World Federation of Hemophilia
2024

Clinical Management of a Rare Hereditary Bleeding Disorder in an Adult: Glanzmann Thrombasthenia.

Cureus
2024

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

Haemophilia : the official journal of the World Federation of Hemophilia
2024

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

Research and practice in thrombosis and haemostasis
2025

Imlifidase Utilization in Glanzmann Thrombasthenia With Anti-GPIIb/IIIa and Anti-HLA Alloimmunization and Severe Platelet Refractoriness Following Hematopoietic Stem Cell Transplant.

Pediatric blood &amp; cancer
2024

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

Cureus
2024

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

Journal of clinical medicine
2024

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

Scientific reports
2024

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

Nature cardiovascular research
2024

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

Annals of hematology
2024

Catheter 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)
2024

[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 zazhi
2024

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

Journal of thrombosis and haemostasis : JTH
2024

Oral surgery in people with inherited bleeding disorder: A retrospective study.

Haemophilia : the official journal of the World Federation of Hemophilia
2024

Pregnancy and childbirth in patients with Glanzmann Thrombasthenia.

British journal of haematology
2024

Should HLA and HPA-matched platelet transfusions for patients with Glanzmann Thrombasthenia or Bernard-Soulier syndrome be standardized care? A Dutch survey and recommendations.

Transfusion
2024

ISTH bleeding assessment tool and platelet function analyzer in children with mild inherited platelet function disorders.

European journal of haematology
2025

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

Seminars in thrombosis and hemostasis
2024

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

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis
2024

Immune 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 Hemophilia
2024

Fibrin glue in managing intractable gingival bleeding in patients with inherited bleeding disorders-a quasi-experimental pilot study.

JPMA. The Journal of the Pakistan Medical Association
2024

Patient with a history of Glanzmann thrombasthenia presented with chronic subdural hematoma: a case report study.

Oxford medical case reports
2024

Bleeding disorders in Saudi Arabia, causes and prevalence: a review.

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis
2024

Association 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 haemostasis
2024

In 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 haemostasis
2023

Two case reports of Glanzmann thrombasthenia with intracranial hemorrhage and a review of the literature.

Surgical neurology international
2024

When Glanzmann thrombasthenia encounters antithrombin deficiency: how do we balance the risk and benefit of antithrombotic therapy?

World journal of emergency medicine
2024

Double jeopardy, glomangiopericytoma and Glanzmann thrombasthenia resulting in recurrent epistaxis: a case report.

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis
2024

Twins With an Identical Novel Mutation in ITGB3: A Case Report of Glanzmann Thrombasthenia-like Syndrome.

Annals of laboratory medicine
2024

Targeted long-read sequencing identifies and characterizes structural variants in cases of inherited platelet disorders.

Journal of thrombosis and haemostasis : JTH
2023

Multidisciplinary management of a pregnancy complicated by Glanzmann thrombasthenia: A case report.

Transfusion
2023

Glanzmann Thrombasthenia Associated with Siderotic Synovitis and Arthropathy: A Case Report.

Journal of blood medicine
2023

Primary Hemostasis Disorders as a Cause of Heavy Menstrual Bleeding in Women of Reproductive Age.

Journal of clinical medicine
2024

Flow cytometry immunophenotyping of healthy platelets and hospitalized patients with suspected platelet dysfunction: Challenges for establishing a cutoff value.

Hematology, transfusion and cell therapy
2023

SINE-VNTR-Alu retrotransposon insertion as a novel mutational event underlying Glanzmann thrombasthenia.

Journal of thrombosis and haemostasis : JTH
2023

Emergency cesarean section in glanzmann thrombasthenia: Anaesthetic management without recombinant factor VIIa.

Saudi journal of anaesthesia
2023

Hemorrhage of Upper Digestive and Respiratory Tracts in a Child with Glanzmann Thrombasthenia.

Maedica
2023

Multicolor flow cytometry in clinical samples for platelet signaling assessment.

Research and practice in thrombosis and haemostasis
2023

Apixaban for treatment of venous thromboembolism in an obese patient with Glanzmann thrombasthenia.

Research and practice in thrombosis and haemostasis
2023

Antagonistic Roles of Human Platelet Integrin αIIbβ3 and Chemokines in Regulating Neutrophil Activation and Fate on Arterial Thrombi Under Flow.

Arteriosclerosis, thrombosis, and vascular biology
2023

Vaginal Delivery in a Primipara with Glanzmann Thrombasthenia.

Maternal-fetal medicine (Wolters Kluwer Health, Inc.)
2024

Current status and future prospects of activated recombinant coagulation factor VIIa, NovoSeven®, in the treatment of haemophilia and rare bleeding disorders.

Annals of hematology
2023

Emergency management of patients with Glanzmann thrombasthenia: consensus recommendations from the French reference center for inherited platelet disorders.

Orphanet journal of rare diseases
2023

Molecular dynamics simulations corroborate recombinant expression studies carried out on three αIIb β-propeller mutations reported in Indian Glanzmann thrombasthenia patients.

Journal of cellular biochemistry
2023

Monozygotic twin cases of endometriosis with Glanzmann thrombasthenia: a case report and review of literature.

Orphanet journal of rare diseases
2023

The GPIIb-IIIa defect of platelets in Glanzmann thrombasthenia.

Haematologica
2023

The Glanzmann Thrombasthenia Registry: safety of platelet therapy in patients with Glanzmann thrombasthenia and changes in alloimmunization status.

Haematologica
2023

A single F153Sβ3 mutation causes constitutive integrin αIIbβ3 activation in a variant form of Glanzmann thrombasthenia.

Blood advances
2023

Unexplained bruising in an infant: Glanzmann thrombasthenia.

Clinical and experimental dermatology
2022

Novel homozygous silent mutation of ITGB3 gene caused Glanzmann thrombasthenia.

Frontiers in pediatrics
2023

Glanzmann Thrombasthenia in Pakistani Patients: Identification of 7 Novel Pathogenic Variants in the Fibrinogen Receptor αIIbβ3.

Cells
2022

Glanzmann 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 Research
2022

A Trp11Arg Substitution in the β3 Signal Peptide Prevents Expression of αIIbβ3 in Patients with Glanzmann Thrombasthenia.

Thrombosis and haemostasis
2023

Detection of alloimmunization in Glanzmann Thrombasthenia and Bernard-Soulier Syndrome: Data from a Brazilian Center.

Hematology, transfusion and cell therapy
2023

High Rates of Anti-αIIbβ3 Antibodies Produced by a Glanzmann Thrombasthenia Patient after First and Unique Red Blood Cells Administration.

Acta haematologica
2022

Efficacy of octreotide in the treatment of gastrointestinal angiodysplasia in a patient with Glanzmann thrombasthenia.

Transfusion medicine (Oxford, England)
2023

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

Revista espanola de enfermedades digestivas
2022

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

Clinical case reports
2022

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

Pakistan journal of medical sciences
2022

Diagnostic workup of inherited platelet disorders.

Blood research
2022

Iron 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 Hemophilia
2022

Novel variants for Glanzmann thrombasthenia manifesting with purpura at birth.

Pediatrics international : official journal of the Japan Pediatric Society
2022

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

Cureus
2022

How I manage pregnancy in women with Glanzmann thrombasthenia.

Blood
2022

Activated Platelets Upregulate β2 Integrin Mac-1 (CD11b/CD18) on Dendritic Cells, Which Mediates Heterotypic Cell-Cell Interaction.

Journal of immunology (Baltimore, Md. : 1950)
2022

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

Platelets
2022

Anti-platelet treatment challenges in Glanzmann thrombasthenia-clinical practice when data lacks.

Haemophilia : the official journal of the World Federation of Hemophilia
2021

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

Frontiers in pediatrics
2022

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

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis
2022

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

International journal of molecular sciences
2021

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

Blood research
2021

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

International journal of clinical pediatric dentistry
2021

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

JACC. Case reports
2021

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

Blood advances
2021

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

Clinical case reports
2021

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

Frontiers in pediatrics
2021

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

Biomedicines
2021

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

BMJ case reports
2022

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

Blood transfusion = Trasfusione del sangue
2022

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

Platelets
2021

Profiling the Genetic and Molecular Characteristics of Glanzmann Thrombasthenia: Can It Guide Current and Future Therapies?

Journal of blood medicine
2021

Next-Generation Sequencing Based Approach to Identify Underlying Genetic Defects of Glanzmann Thrombasthenia.

Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
2021

A comparative study between light transmission aggregometry and flow cytometric platelet aggregation test for the identification of platelet function defects in patients with bleeding.

Blood research
2021

Glanzmann Thrombasthenia: Perspectives from Clinical Practice on Accurate Diagnosis and Optimal Treatment Strategies.

Journal of blood medicine
2021

Genetic 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).

Genes
2021

Flow cytometric analysis of platelet surface glycoproteins in the diagnosis of thirty-two Turkish patients with Glanzmann thrombasthenia: a multicenter experience.

Turkish journal of medical sciences
2021

Itgb3-integrin-deficient mice may not be a sufficient model for patients with Glanzmann thrombasthenia.

Molecular medicine reports
2021

Weekly low-dose recombinant factor VIIa prophylaxis in Glanzmann thrombasthenia.

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis
2021

Mutations in RASGRP2 gene identified in patients misdiagnosed as Glanzmann thrombasthenia patients.

Blood cells, molecules &amp; diseases
2021

Inherited Bleeding Disorders in Pediatric Patients; experience of the national referral center in Iraq.

Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
2021

Gene Therapy for Inherited Bleeding Disorders.

Seminars in thrombosis and hemostasis
2021

Use of rFVIIa in Preventing Recurrent Intra-articular Hemorrhages in a 15-Year-Old Patient With Glanzmann Thrombasthenia.

Journal of pediatric hematology/oncology
2021

Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel.

Blood advances
2020

Utility of the Platelet Function Analyzer in Patients with Suspected Platelet Function Disorders: Diagnostic Accuracy Study.

TH open : companion journal to thrombosis and haemostasis
2020

Characterization of Procoagulant COAT Platelets in Patients with Glanzmann Thrombasthenia.

International journal of molecular sciences
2020

αIIbβ3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrum.

PloS one
2020

A Comprehensive Review of Congenital Platelet Disorders, Thrombocytopenias and Thrombocytopathies.

Cureus
2021

Nonredundant Roles of Platelet Glycoprotein VI and Integrin αIIbβ3 in Fibrin-Mediated Microthrombus Formation.

Arteriosclerosis, thrombosis, and vascular biology
2021

A 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 &amp; fibrinolysis : an international journal in haemostasis and thrombosis
2021

Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagnostic strategy.

Haematologica
2020

Why thromboembolism occurs in some patients with thrombocytopenia and treatment strategies.

Thrombosis research
2021

Immunization against αIIb β3 and αv β3 in Glanzmann thrombasthenia patients carrying the French Gypsy mutation.

Journal of thrombosis and haemostasis : JTH
2020

Management of Refractory Menstrual Bleeding in an Adolescent with Glanzmann Thrombasthenia: A Case Report and Review.

Case reports in obstetrics and gynecology
2020

Disease Burden in Patients with Glanzmann's Thrombasthenia: Perspectives from the Glanzmann's Thrombasthenia Patient/Caregiver Questionnaire.

Journal of blood medicine
2020

Complementary roles of platelet αIIbβ3 integrin, phosphatidylserine exposure and cytoskeletal rearrangement in the release of extracellular vesicles.

Atherosclerosis
2021

Ferric carboxymaltose for sub-acute and chronic iron deficiency anemia in inherited platelet function defects.

Internal and emergency medicine
2020

Feminizing Genitoplasty in a young girl with Glanzmann's thrombasthenia-management of haemostasis.

JPMA. The Journal of the Pakistan Medical Association
2020

COVID-19 in a pediatric patient with Glanzmann thrombasthenia.

Pediatric blood &amp; cancer
2020

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

Transfusion
2021

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

Pediatrics international : official journal of the Japan Pediatric Society
2020

A novel missense variant in the RASGRP2 gene in patients with moderate to severe bleeding disorder.

Platelets
2020

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

Clinical chemistry and laboratory medicine
2020

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

American journal of hematology
2020

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

International journal of laboratory hematology
2020

Heterogeneity of Integrin αIIbβ3 Function in Pediatric Immune Thrombocytopenia Revealed by Continuous Flow Cytometry Analysis.

International journal of molecular sciences
2020

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

Arteriosclerosis, thrombosis, and vascular biology
2021

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

Platelets
2020

Glanzmann thrombasthenia: genetic basis and clinical correlates.

Haematologica
2021

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

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

JBJS case connector
2020

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

Haemophilia : the official journal of the World Federation of Hemophilia
2019

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

Journal of clinical medicine
2020

Acquired Glanzmann thrombasthenia associated with platelet desialylation.

Journal of thrombosis and haemostasis : JTH
2019

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

Animals : an open access journal from MDPI
2020

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

Journal of pediatric hematology/oncology
2020

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

Journal of thrombosis and haemostasis : JTH
2023

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

British journal of neurosurgery
2019

Rituximab 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 haematology
2019

A 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 Transplantation
2019

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

Journal of thrombosis and haemostasis : JTH
2019

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

TH open : companion journal to thrombosis and haemostasis
2019

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

Thrombosis research
2019

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

Clinical breast cancer
2020

Identification of one novel pathogenic ITGB3 mutation and two known mutations in two Chinese pedigrees with hereditary Glanzmann thrombasthenia.

Platelets
2019

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

Acta haematologica
2019

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

Ear, nose, &amp; throat journal
2019

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

Orphanet journal of rare diseases
2019

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

Blood reviews
2019

First description of an IgM monoclonal antibody causing αIIb β3 integrin activation and acquired Glanzmann thrombasthenia associated with macrothrombocytopenia.

Journal of thrombosis and haemostasis : JTH
2019

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

Indian pediatrics
2019

Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients.

NPJ genomic medicine
2019

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

Journal of pediatric hematology/oncology
2018

Severe Intestinal Bleeding in a Woman with Glanzmann Thrombasthenia.

European journal of case reports in internal medicine
2018

Delayed Diagnosis of Atypical Presentation of Myasthenia Gravis.

European journal of case reports in internal medicine
2019

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

General dentistry
2019

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

Thrombosis and haemostasis
2019

Missed 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 Haemapheresis
2019

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

Haematologica
2018

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

Thrombosis journal
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Doenças relacionadas

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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.

  1. 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 &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion· 2026· PMID 41728181mais citado
  2. Clinicopathological Spectrum of Functional Platelet Disorders Diagnosed Using Light Transmission Aggregometry.
    Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion· 2026· PMID 41728151mais citado
  3. Diagnostic challenges in inherited platelet disorders in sub-Saharan Africa: first clinical case study of seven patients in Senegal.
    Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis· 2026· PMID 41630424mais citado
  4. ITGA2B/ITGB3-Related Macrothrombocytopenia Associated With Gain-of-Function Mutations in ITGA2B or ITGB3 Genes.
    Journal of cellular and molecular medicine· 2026· PMID 41503871mais citado
  5. Inherited Platelet Disorders During Pregnancy and Delivery: Overview of Management Strategies and Emerging Therapeutic Considerations.
    Hematology reports· 2026· PMID 41874099mais citado
  6. Rare Bleeding Disorders and Bleeding Disorder of Unknown Cause: Current Understanding and Recent Developments.
    Haemophilia· 2026· PMID 41988957recente
  7. Platelet transfusion refractoriness in Glanzmann thrombasthenia: a case report with literature review.
    Lab Med· 2026· PMID 41955421recente
  8. Congenital thrombopathies in southern Tunisia : A multicenter study.
    Tunis Med· 2025· PMID 41949971recente
  9. Neonatal Glanzmann's Thrombasthenia Presenting as Refractory Post-circumcision Hemorrhage in a Region of High Consanguinity: A Case Report.
    Cureus· 2026· PMID 41815592recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:849(Orphanet)
  2. MONDO:0100326(MONDO)
  3. GARD:2478(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Artigo Wikipedia(Wikipedia)
  7. 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

Trombastenia de Glanzmann
Compêndio · Raras BR

Trombastenia de Glanzmann

ORPHA:849 · MONDO:0100326
Prevalência
Unknown
Herança
Autosomal recessive
CID-10
D69.1 · Defeitos qualitativos das plaquetas
CID-11
Ensaios
6 ativos
Medicamentos
1 registrados
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0040015
Repurposing
1 candidato
sulbutiamineacetylcholine receptor antagonist
EuropePMC
Wikidata
Wikipedia
Papers 10a
DiscussaoAtiva

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