A Síndrome de Bernard Soulier (SBS) é uma doença hereditária que afeta as plaquetas, as células responsáveis pela coagulação do sangue. Ela se caracteriza por uma tendência a sangramentos que podem variar de leves a graves, pela presença de plaquetas maiores que o normal e em quantidade reduzida, e pela incapacidade dessas plaquetas de se agruparem em um teste laboratorial específico que utiliza uma substância chamada ristocetina.
Introdução
O que você precisa saber de cara
A Síndrome de Bernard Soulier (SBS) é uma doença hereditária que afeta as plaquetas, as células responsáveis pela coagulação do sangue. Ela se caracteriza por uma tendência a sangramentos que podem variar de leves a graves, pela presença de plaquetas maiores que o normal e em quantidade reduzida, e pela incapacidade dessas plaquetas de se agruparem em um teste laboratorial específico que utiliza uma substância chamada ristocetina.
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
+ 18 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 34 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
3 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive.
The GPIb-V-IX complex functions as the vWF receptor and mediates vWF-dependent platelet adhesion to blood vessels. The adhesion of platelets to injured vascular surfaces in the arterial circulation is a critical initiating event in hemostasis. GP-IX may provide for membrane insertion and orientation of GP-Ib
Membrane
Bernard-Soulier syndrome
An autosomal recessive coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, thrombocytopenia, and impaired prothrombin consumption.
GP-Ib, a surface membrane protein of platelets, participates in the formation of platelet plugs by binding to the A1 domain of vWF, which is already bound to the subendothelium
Membrane
Non-arteritic anterior ischemic optic neuropathy
An autosomal recessive ocular disease due to ischemic injury to the optic nerve. It usually affects the optic disk and leads to visual loss and optic disk swelling of a pallid nature. Visual loss is usually sudden, or over a few days at most and is usually permanent, with some recovery possibly occurring within the first weeks or months. Patients with small disks having smaller or non-existent cups have an anatomical predisposition for non-arteritic anterior ischemic optic neuropathy. As an ischemic episode evolves, the swelling compromises circulation, with a spiral of ischemia resulting in further neuronal damage.
Gp-Ib, a surface membrane protein of platelets, participates in the formation of platelet plugs by binding to von Willebrand factor, which is already bound to the subendothelium
Membrane
Bernard-Soulier syndrome
An autosomal recessive coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, thrombocytopenia, and impaired prothrombin consumption.
Variantes genéticas (ClinVar)
632 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 216 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
8 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 — Síndrome Bernard-Soulier
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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
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
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.
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.
Bernard Soulier Syndrome Misdiagnosed and Treated as Immune Thrombocytopenia Purpura: A Case Report.
Bernard Soulier syndrome (BSS) is a rare autosomal recessive disorder that presents with giant platelets, prolonged bleeding time, and mucocutaneous bleeding. As it is a rare disorder and shares overlapping clinical features with other bleeding disorders, it is often misdiagnosed as immune thrombocytopenia purpura (ITP), which can result in inappropriate and aggressive management. This report explores the case of a young female patient who presented with recurrent epistaxis and ecchymotic episodes since childhood. She was misdiagnosed and treated for ITP, and due to refractory symptoms, she underwent splenectomy and experienced temporary symptom improvement. However, the symptoms returned, and further workup with ristocetin and flow cytometry confirmed her diagnosis of BSS. This case underscores the importance of considering an alternative diagnosis for ITP, particularly when the presentation is atypical and the treatment response is also unusual. Additionally, it examines whether splenectomy is associated with better outcomes for these patients.
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.
Immunofluorescence-based platelet phenotyping using peripheral blood smears has recently emerged as a promising method for characterizing a subgroup of inherited platelet disorders (IPD). A single-center study demonstrated its potential for accurate diagnosis of 9 disorders with characteristic platelet structural changes. The aim of this study was to evaluate the reproducibility of this approach through an interlaboratory validation study. Native, air-dried blood smears from healthy controls and patients with confirmed IPD were shipped to 7 participating laboratories, blinded for the sample origin. Samples were fixed and stained using a shared panel of 13 commercially available primary antibodies and 2 fluorescence-labelled secondary antibodies. Laboratories formulated diagnostic predictions based solely on immunofluorescence findings. The pre-workshop method establishment involved other samples and feedback with the coordinating laboratory to address technical issues before blinded sample validation. All 7 laboratories (Brisbane, Greifswald, Murcia, Paris, Pavia, Perugia, and Tübingen) correctly diagnosed MYH9-related disease, Bernard-Soulier syndrome, Glanzmann thrombasthenia, and GFI1B-related thrombocytopenia. Six of 7 laboratories accurately identified TUBB1-related disorder and quantitative δ-storage pool disorder, while 5 of 7 correctly diagnosed GATA1-related thrombocytopenia. Immunofluorescence-based platelet phenotyping on peripheral blood smears demonstrated high sensitivity for diagnosing MYH9-related disease, Bernard-Soulier syndrome, Glanzmann thrombasthenia, and GFI1B-related thrombocytopenia, and reasonable sensitivity for TUBB1-related disorder, quantitative δ-storage pool disorder, and GATA1-related thrombocytopenia. Immunofluorescence analysis of blood smears may be of help in the diagnostic work-up of IPD.
Hemostatic rescue with rFVIIa in Bernard-Soulier syndrome refractory to HLA-matched platelet transfusion.
We report the case of a man in his 50’s diagnosed with Bernard-Soulier syndrome (BSS) in childhood who developed refractory gluteal bleeding following a fall accident. The patient underwent four hematoma evacuation procedures and multiple platelet transfusions, including HLA (human leukocyte antigen) -matched platelet concentrates, without achieving sustained hemostatic control. Given the lack of response to platelet transfusion and ongoing bleeding risk, Eptacog Alfa (recombinant activated factor VII; rFVIIa) was administered for 4 days, following the dosing regimen recommended for Glanzmann thrombasthenia in surgical bleeding settings. Hemostasis was achieved shortly after rFVIIa administration, and no further surgical evacuation was necessary. Importantly, no thromboembolic complications occurred despite the use of rFVIIa. This case demonstrates that rFVIIa can serve as an effective adjunctive hemostatic therapy in patients with BSS who are refractory to platelet transfusions. We reviewed the existing literature on rFVIIa use in patients with BSS and summarized the clinical contexts, dosing strategies, efficacy, and safety outcomes. Our experience suggests that early consideration of rFVIIa may help prevent repeated surgical interventions and reduce bleeding-related morbidity in complex cases.
Publicações recentes
Investigator-Led Research to Improve the Diagnostic Assessment of Platelet Function Disorders: Reflections on the Challenges and Rewards.
Congenital thrombopathies in southern Tunisia : A multicenter study.
Inherited Platelet Disorders During Pregnancy and Delivery: Overview of Management Strategies and Emerging Therapeutic Considerations.
Bernard Soulier Syndrome Misdiagnosed and Treated as Immune Thrombocytopenia Purpura: A Case Report.
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.
📚 EuropePMC359 artigos no totalmostrando 179
Inherited Platelet Disorders During Pregnancy and Delivery: Overview of Management Strategies and Emerging Therapeutic Considerations.
Hematology reportsBernard Soulier Syndrome Misdiagnosed and Treated as Immune Thrombocytopenia Purpura: A Case Report.
CureusInterlaboratory 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 : JTHHemostatic 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 hematologySuccessful Vaginal Delivery in a Pregnant Woman With Bernard-Soulier Syndrome: A Case Report.
Clinical case reportsDiagnostic 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 thrombosisBernard-Soulier Syndrome: Identification of a Novel GP1BB Variant in a Mauritanian Patient.
Molecular genetics & genomic medicineWhen it's not Glanzmann thrombasthenia or Bernard-Soulier syndrome: diagnosing other qualitative platelet disorders.
Hematology. American Society of Hematology. Education ProgramRecombinant Factor VIIa Prophylaxis in 2 Brothers with Bernard-Soulier Syndrome.
The American journal of case reportsCoexistence of Immune Thrombocytopenic Purpura and Bernard-Soulier Syndrome: A Rare Pediatric Case Report.
International medical case reports journalGiant platelets and persistent bleeding: a pediatric case of Bernard-Soulier syndrome.
Annals of medicine and surgery (2012)Flow Cytometry Assessment of Platelet Phenotype, Function, and Cellular Interactions: Guidelines for Optimization and Assay Performance.
Clinics in laboratory medicineAnesthetic Management of a Patient With Bernard-Soulier Syndrome and Catamenial Hemothorax for Thoracotomy: A Case Report.
A&A practiceNatural 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/oncologyFrom Bernard-Soulier syndrome to sitosterolemia: the role of genetic analysis in bleeding diathesis.
Thrombosis journalTranscriptome profiling of megakaryocytes and platelets: Application to GP9- and IKZF5-related thrombocytopenia.
HemaSphereKupffer cells are essential for platelet-mediated thrombopoietin generation in the liver.
Proceedings of the National Academy of Sciences of the United States of AmericaMurine hematopoietic progenitor cell lines with erythroid and megakaryocyte potential.
Nature communicationsBernard-Soulier Syndrome: Case Studies From Morocco.
CureusAutomated Quantitative Immunofluorescence Microscopy Approach for Diagnosis of Hereditary Thrombopathies: A Proof of Concept Using Bernard-Soulier Syndrome and Glanzmann Thrombasthenia.
GenesHow Trustworthy is Light Transmittance Platelet Aggregometry With Low Platelet Count Samples? Insights From Test Replicates and Retrospective Analysis of Several Decades of Diagnostic Samples.
International journal of laboratory hematologyAcquired Bernard-Soulier syndrome as the presenting feature of GATA2-related myeloid neoplasm in an adolescent: an insight into the mechanisms underlying the platelet defect.
HaematologicaAnesthesia Management Using Remimazolam in A Patient With Bernard-Soulier Syndrome: A Case Report.
Clinical case reportsAcquired Bernard-Soulier-like syndrome due to a plasma-based inhibitor treated successfully with rituximab.
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CureusIncreased RhoA pathway activation downstream of αIIbβ3/SRC contributes to heterozygous Bernard Soulier syndrome.
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CureusPersistent Menorrhagia and Hemorrhagic Ovarian Cyst in a Patient With Bernard-Soulier Syndrome: A Case Report.
CureusLike Father, Like Daughter: A Family With a Constitutional Thrombocytopenia Variant Due to a Novel Heterozygous Missense Mutation in GP1BA.
Journal of pediatric hematology/oncologyRoles of ROCK/Myosin Pathway in Macrothrombocytopenia in Bernard-Soulier Syndrome.
Thrombosis and haemostasisBernard-Soulier Syndrome: A Review of Epidemiology, Molecular Pathology, Clinical Features, Laboratory Diagnosis, and Therapeutic Management.
Seminars in thrombosis and hemostasisNovel GPIb-independent platelet aggregation induced by botrocetin: implications for diagnosis and antithrombotic therapy.
Journal of thrombosis and haemostasis : JTHThe compound pathogenic effects of a homozygous frameshift variant in the transmembrane region of GP9, causing Bernard-Soulier syndrome, with a missense variant in GP1BB.
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.
TransfusionBernard-Soulier syndrome caused by a novel GP1BB variant and 22q11.2 deletion.
International journal of hematologyBernard-Soulier syndrome caused by two novel heterozygous GP1BA gene mutations: a case report and literature review.
Hematology (Amsterdam, Netherlands)Frequency, clinical, and laboratory findings of platelet secretion disorders in patients referred to the specialized coagulation laboratory of the Iranian Blood Transfusion Organization.
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CureusBlood donor biobank as a resource in personalised biomedical genetic research.
European journal of human genetics : EJHGEvaluation of a diagnostic platelet aggregation test strategy for platelet rich plasma samples with low platelet counts.
International journal of laboratory hematologyPregnancy Outcome in Bernard-Soulier Syndrome.
Journal of obstetrics and gynaecology of IndiaSuccessful pregnancy and delivery management in a patient with Bernard Soulier Syndrome.
Obstetric 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 therapyLentiviral gene therapy reverts GPIX expression and phenotype in Bernard-Soulier syndrome type C.
Molecular therapy. Nucleic acidsA cohort study and matched pair analysis evaluating the effects of the COVID-19 pandemic on access to dental care for people with inherited bleeding disorders.
Haemophilia : the official journal of the World Federation of HemophiliaBernard Soulier syndrome: A case report from Pakistan.
Clinical case reportsPoint-of-care platelet function testing results in a dog with Bernard-Soulier syndrome.
Veterinary clinical pathologyExperience of kidney transplantation to a patient with Bernard Soulier syndrome: A case report.
Turkish journal of surgeryClinical Dilemma, Bernard Soulier Syndrome versus Immune Thrombocytopenic Purpura: A Case Report.
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Zeitschrift fur Geburtshilfe und NeonatologieGP1BB c.179C > T is the most frequent cause of monoallelic Bernard-Soulier syndrome in the Italian population after the Bolzano variant: a report of two new families.
Annals of hematologyOpening Pandora's box: abnormal genetic carrier screening and need for lifetime follow-up.
American journal of obstetrics & gynecology MFMPerioperative Management of a Patient With Combined Bernard Soulier syndrome and Storage Pool Disease During On-Pump Cardiac Surgery.
Journal of cardiothoracic and vascular anesthesiaBiological, clinical features and modelling of heterozygous variants of glycoprotein Ib platelet subunit alpha (GP1BA) and glycoprotein Ib platelet subunit beta (GP1BB) genes responsible for constitutional thrombocytopenia.
British journal of haematologyBernard-Soulier syndrome in pregnancy with retinal detachment: a rare phenomenon.
BMJ case reportsDetection of alloimmunization in Glanzmann Thrombasthenia and Bernard-Soulier Syndrome: Data from a Brazilian Center.
Hematology, transfusion and cell therapyS100A8/A9 drives the formation of procoagulant platelets through GPIbα.
BloodSuccessful management of a retrosternal goiter in a patient with Bernard-Soulier syndrome.
Kardiochirurgia i torakochirurgia polska = Polish journal of cardio-thoracic surgeryCharacterization of zebrafish gp1ba mutant and modelling Bernard Soulier syndrome.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisDiagnostic workup of inherited platelet disorders.
Blood researchMurine models of glycoprotein Ib-IX.
PlateletsIron 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 HemophiliaThe GPIb-IX complex on platelets: insight into its novel physiological functions affecting immune surveillance, hepatic thrombopoietin generation, platelet clearance and its relevance for cancer development and metastasis.
Experimental hematology & oncologyStability and utility of flow cytometric platelet activation tests: A modality to bridge the gap between diagnostic demand and supply.
PlateletsElevated CD9 expression as a potential biomarker for diagnosis of Bernard-Soulier syndrome.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisPerforated hemorrhagic cholecystitis in a patient with Bernard-Soulier syndrome.
Clinical journal of gastroenterologyA GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome.
International journal of molecular sciencesInvasive procedures in the oral cavity of individuals with Bernard-Soulier syndrome: An integrative review.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric DentistryAcquired Bernard-Soulier syndrome and hypodysfibrinogenaemia because of multiple myeloma.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisA Novel Mutation in GP1BB Reveals the Role of the Cytoplasmic Domain of GPIbβ in the Pathophysiology of Bernard-Soulier Syndrome and GPIb-IX Complex Assembly.
International journal of molecular sciencesWhole genome sequence analysis of platelet traits in the NHLBI Trans-Omics for Precision Medicine (TOPMed) initiative.
Human molecular geneticsPlatelet features allow to differentiate immune thrombocytopenia from inherited thrombocytopenia.
Annals of hematologyEstablishment of a Bernard-Soulier syndrome model in zebrafish.
HaematologicaBernard Soulier syndrome: a rare, frequently misdiagnosed and poorly managed bleeding disorder.
BMJ case reportsThe Copenhagen founder variant GP1BA c.58T>G is the most frequent cause of inherited thrombocytopenia in Denmark.
Journal of thrombosis and haemostasis : JTHAnemia-Induced Bleeding in Patients with Platelet Disorders.
Transfusion medicine reviewsRecurrent melena in a diagnosed case of Bernard Soulier syndrome.
Journal of community hospital internal medicine perspectivesDiagnostic Challenges in Children With Congenital Bleeding Disorders: A Developing Country Perspective.
American journal of clinical pathologyGPIbα is the driving force of hepatic thrombopoietin generation.
Research and practice in thrombosis and haemostasisA novel frameshift GP1BB mutation causes autosomal dominant macrothrombocytopenia with decreased vWF receptor expression but normal platelet aggregation.
PlateletsA novel mutation in GP1BA gene in a family with autosomal dominant Bernard Soulier syndrome variant: A case report.
Experimental and therapeutic medicineA homozygous loss-of-function mutation in GP1BB causing variable clinical phenotypes in a family with Bernard-Soulier syndrome.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisSuccessful management of severe gastrointestinal bleeding from jejunal angiodysplasia in a patient with Bernard-Soulier syndrome.
BMJ case reportsNovel Compound Heterozygous Mutations in Two Families With Bernard-Soulier Syndrome.
Frontiers in pediatricsUtility of the Platelet Function Analyzer in Patients with Suspected Platelet Function Disorders: Diagnostic Accuracy Study.
TH open : companion journal to thrombosis and haemostasisA Comprehensive Review of Congenital Platelet Disorders, Thrombocytopenias and Thrombocytopathies.
CureusRegulation of platelet numbers and sizes by signaling pathways.
PlateletsWhole exome sequencing for diagnosis of hereditary thrombocytopenia.
MedicineA Sardinian founder mutation in glycoprotein Ib platelet subunit beta (GP1BB) that impacts thrombocytopenia.
British journal of haematologyBernard-Soulier syndrome (BSS) with uncontrollable menorrhagia.
Asian journal of transfusion scienceWhy thromboembolism occurs in some patients with thrombocytopenia and treatment strategies.
Thrombosis researchPeripheral blood morphology review and diagnostic proficiency evaluation by a new Spanish EQAS during the period 2011-2019.
International journal of laboratory hematologyFerric carboxymaltose for sub-acute and chronic iron deficiency anemia in inherited platelet function defects.
Internal and emergency medicineGlycophorin 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 hematologyInherited thrombocytopenias: history, advances and perspectives.
HaematologicaPlatelet immunophenotyping in health and inherited bleeding disorders, a review and practical hints.
Cytometry. Part B, Clinical cytometryInherited Bleeding Disorders in North Indian Children: 14 years' Experience from a Tertiary Care Center.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion"ITP" is not always immune thrombocytopenia.
American journal of hematologyMultivessel Percutaneous Coronary Intervention in a Patient With Bernard-Soulier Syndrome.
JACC. Case reportsBernard-Soulier syndrome or idiopathic thrombocytopenic purpura: A case series.
Caspian journal of internal medicineBernard-Soulier syndrome: first human case due to a homozygous deletion of GP9 gene.
British journal of haematologyMenstrual and obstetrical bleeding in women with inherited platelet receptor defects-A systematic review.
Haemophilia : the official journal of the World Federation of HemophiliaHigh prevalence of the natural Asn89Asp mutation in the GP1BB gene associated with Bernard-Soulier syndrome in French patients from the genetic isolate of Reunion Island.
British journal of haematologyImpaired hemostatic activity of healthy transfused platelets in inherited and acquired platelet disorders: Mechanisms and implications.
Science translational medicineExcessive wrinkling of the palms after brief water immersion.
JAAD case reportsA novel mutation in the GP1BA gene in Bernard-Soulier syndrome.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisUnaccompanied mechanosensory domain mediates low expression of glycoprotein Ibα: implications for Bernard-Soulier syndrome.
Journal of thrombosis and haemostasis : JTHBernard-Soulier syndrome associated with 22q11.2 deletion and clinical features of DiGeorge/velocardiofacial syndrome.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisNontraumatic Orbital Subperiosteal Hematoma in a Case of Bernard-Soulier Syndrome With Bilateral Pansinusitis.
Ophthalmic plastic and reconstructive surgeryA large deletion in the GP9 gene in Cocker Spaniel dogs with Bernard-Soulier syndrome.
PloS oneGenetic classification and confirmation of inherited platelet disorders: current status in Korea.
Clinical and experimental pediatricsThe use of prophylaxis in the treatment of rare bleeding disorders.
Thrombosis researchStudy of Bernard-Soulier Syndrome Megakaryocytes and Platelets Using Patient-Derived Induced Pluripotent Stem Cells.
Thrombosis and haemostasisA Case of Bernard-Soulier Syndrome due to a Novel Homozygous Missense Mutation in an Exon of the GP1BA Gene.
Acta haematologicaManagement of haemostasis during dental extraction in a Bernard-Soulier syndrome child.
BMJ case reportsEltrombopag for the treatment of inherited thrombocytopenias: a phase II clinical trial.
HaematologicaBernard Soulier Syndrome: 10 years' experience at a tertiary care hospital.
Pakistan journal of medical sciencesA novel missense mutation in a leucine-rich repeat of GPIbα in a Bernard-Soulier variant reduces shear-dependent adherence on von Willebrand factor.
British journal of haematologyHemizygosity for the gene encoding glycoprotein Ibβ is not responsible for macrothrombocytopenia and bleeding in patients with 22q11 deletion syndrome.
Journal of thrombosis and haemostasis : JTHA novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome.
PlateletsHow we treat the platelet glycoprotein defects; Glanzmann thrombasthenia and Bernard Soulier syndrome in children and adults.
British journal of haematologyInherited Bleeding Disorders in the Obstetric Patient.
Transfusion medicine reviewsInherited platelet disorders : Management of the bleeding risk.
Transfusion clinique et biologique : journal de la Societe francaise de transfusion sanguineInherited platelet functional disorders: General principles and practical aspects of management.
Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for HaemapheresisPlatelet function tests: A 5-year audit of platelet function tests done for bleeding disorders in a tertiary care center of a developing country.
Indian journal of pathology & microbiologyThrombopoietin receptor agonists in hereditary thrombocytopenias.
Journal of thrombosis and haemostasis : JTHSpontaneous breast haematoma in a woman with Bernard-Soulier giant platelet disorder.
PathologyAlloimmunization in Congenital Deficiencies of Platelet Surface Glycoproteins: Focus on Glanzmann's Thrombasthenia and Bernard-Soulier's Syndrome.
Seminars in thrombosis and hemostasisGPIbα is required for platelet-mediated hepatic thrombopoietin generation.
BloodA point mutation in Phe71Ser in glycoprotein IX as a genetic cause of Bernard-Soulier syndrome: case report.
Clinical case reportsNew heterozygous variant in GP1BB gene is responsible for an inherited form of macrothrombocytopenia.
British journal of haematologyDiagnosis of platelet function disorders: A standardized, rational, and modular flow cytometric approach.
PlateletsTwo novel variants of uncertain significance in GP9 associated with Bernard-Soulier syndrome: Are they true mutations?
PlateletsBernard-Soulier syndrome in Pakistan: Biochemical and molecular analyses leading to identification of a novel mutation in GP1BA.
Haemophilia : the official journal of the World Federation of HemophiliaChallenges on the diagnostic approach of inherited platelet function disorders: Is a paradigm change necessary?
PlateletsA new heterozygous mutation in GP1BA gene responsible for macrothrombocytopenia.
British journal of haematologyCombined occurrence of Bernard-Soulier syndrome and prekallikrein deficiency.
Blood researchA Brazilian case of Bernard-Soulier syndrome with two distinct founder mutations.
Human genome variationHaemostatic Disorder in Women with Unexplained Menorrhagia: A Tertiary Care Centre Experience from Northern India.
Journal of clinical and diagnostic research : JCDRDoes Bernard-Soulier syndrome protect against thrombotic thrombocytopenic purpura?
Journal of clinical apheresisA Cdc42/RhoA regulatory circuit downstream of glycoprotein Ib guides transendothelial platelet biogenesis.
Nature communicationsDiagnosis of inherited platelet disorders on a blood smear: a tool to facilitate worldwide diagnosis of platelet disorders.
Journal of thrombosis and haemostasis : JTHInduced pluripotent stem cells derived from Bernard-Soulier Syndrome patient's peripheral blood cells with a p.Phe55Ser mutation in the GPIX gene.
Stem cell researchAutosomal recessive inherited bleeding disorders in Pakistan: a cross-sectional study from selected regions.
Orphanet journal of rare diseasesBleeding risk of surgery and its prevention in patients with inherited platelet disorders.
HaematologicaPatients with Bernard-Soulier syndrome and different severity of the bleeding phenotype.
Blood cells, molecules & diseasesGeneration of a human induced pluripotent stem cell (iPSC) line from a Bernard-Soulier syndrome patient with the mutation p.Asn45Ser in the GPIX gene.
Stem cell researchCorrigendum to "Generation of induced pluripotent stem cells (iPSCs) from a Bernard-Soulier syndrome patient carrying a W71R mutation in the GPIX gene" [Stem Cell Res. 16/3 (2016) 692-695].
Stem cell researchThe contribution of mouse models to the understanding of constitutional thrombocytopenia.
HaematologicaEvaluation of the Hemostatic Disorders in Adolescent Girls with Menorrhagia: Experiences from a Tertiary Referral Hospital.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionGenomic approaches to bleeding disorders.
Haemophilia : the official journal of the World Federation of HemophiliaGeneration of induced pluripotent stem cells (iPSCs) from a Bernard-Soulier syndrome patient carrying a W71R mutation in the GPIX gene.
Stem cell researchGrey platelet syndrome misdiagnosed as ITP.
British journal of haematologyLentiviral gene rescue of a Bernard-Soulier mouse model to study platelet glycoprotein Ibβ function.
Journal of thrombosis and haemostasis : JTHThe utility of International Society on Thrombosis and Haemostasis-Bleeding Assessment Tool and other bleeding questionnaires in assessing the bleeding phenotype in two platelet function defects.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisUtilization of paravertebral nerve blocks as part of a multimodal analgesic regimen in a patient with Bernard-Soulier syndrome undergoing a Nuss procedure.
Romanian journal of anaesthesia and intensive careGenotype-phenotype correlation in a cohort of Portuguese patients comprising the entire spectrum of VWD types: impact of NGS.
Thrombosis and haemostasisA novel mutation in GP1BA gene leads to mono-allelic Bernard Soulier syndrome form of macrothrombocytopenia.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisBernard-Soulier Syndrome (BSS) & tuberculosis: A case report.
International journal of mycobacteriology[Bernard-Soulier syndrome and pregnancy: a case report].
Annales de biologie cliniqueBernard-Soulier syndrome: A challenge for anesthetist in an emergency surgery.
Journal of anaesthesiology, clinical pharmacologyLow levels of CD9 coincidental with a novel nonsense mutation in glycoprotein Ibβ in a patient with Bernard-Soulier syndrome.
Annals of hematologyDental Extractions Management in Bernard-Soulier Syndrome.
The Journal of craniofacial surgeryA diagnostic dilemma: variant Bernard-Soulier syndrome, a difficult clinical and genetic diagnosis.
Haemophilia : the official journal of the World Federation of HemophiliaPlatelet functional alterations in a Bernard-Soulier syndrome patient with filamin A mutation.
Journal of hematology & oncologyGenotype-phenotype Correlation of the p.R1165C Mutation in the MYH9 Disorder: Report of a Japanese Pedigree.
Journal of pediatric hematology/oncologyA Novel Homozygous c.800C>G Substitution in GP1BA Exon 2 in a Kuwaiti Family with Bernard-Soulier Syndrome.
Acta haematologicaPrimigravida with Bernard-Soulier Syndrome: a case report.
BMC research notesFlow cytometric detection of MPL (CD110) as a diagnostic tool for differentiation of congenital thrombocytopenias.
HaematologicaInvestigation of platelet function and platelet disorders using flow cytometry.
PlateletsLarge-scale identification of potential drug targets based on the topological features of human protein-protein interaction network.
Analytica chimica actaInherited platelet disorders.
HamostaseologieRoll, adhere, spread and contract: structural mechanics of platelet function.
European journal of cell biologyInherited thrombocytopenias in the era of personalized medicine.
HaematologicaAssociações
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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.
- 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
- Inherited Platelet Disorders During Pregnancy and Delivery: Overview of Management Strategies and Emerging Therapeutic Considerations.
- Bernard Soulier Syndrome Misdiagnosed and Treated as Immune Thrombocytopenia Purpura: A Case Report.
- 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.
- Hemostatic rescue with rFVIIa in Bernard-Soulier syndrome refractory to HLA-matched platelet transfusion.
- Investigator-Led Research to Improve the Diagnostic Assessment of Platelet Function Disorders: Reflections on the Challenges and Rewards.
- Congenital thrombopathies in southern Tunisia : A multicenter study.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:274(Orphanet)
- OMIM OMIM:231200(OMIM)
- MONDO:0009276(MONDO)
- GARD:2470(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q822228(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.
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