Successful outcomes of surgery procedures in patient with Glanzmann´s Thrombasthenia

We report a 35-year-old female patient with Glanzmann's thrombasthenia (GT) and severe anemia due to abnormal uterine bleeding secondary to uterine myomatosis. She required several admissions of red blood cells and platelet transfusions. An elective subtotal hysterectomy with salpingo-oophorectomy was proposed and recombinant factor VII was required. Surgical and postoperative outcomes were successful, without surgical complications, bleeding, or hemogram alterations. 4 years later, she required tooth extraction because of periodontal disease and pulp necrosis. In Peru, reports of GT patients requiring major and minor surgical procedures are lacking, given the low disease prevalence and the difficulties related to surgery. The report of these successful cases becomes relevant to continue improving GT management.

Presentamos el caso de una paciente de 35 años con trombastenia de Glanzmann (GT) y anemia severa por sangrado uterino anormal secundario a miomatosis uterina. Requirió varias admisiones de transfusiones de glóbulos rojos y plaquetas. Se propuso histerectomía subtotal electiva con salpingo-ooforectomía y se requirió factor VII recombinante. Los resultados quirúrgicos y postoperatorios fueron exitosos, sin complicaciones quirúrgicas, sangrado ni alteraciones del hemograma. 4 años después, requirió extracción dental por enfermedad periodontal y necrosis pulpar. En Perú faltan reportes de pacientes con GT que requieran procedimientos quirúrgicos mayores y menores, dada la baja prevalencia de la enfermedad y las dificultades relacionadas con la cirugía. El reporte de estos casos de éxito cobra relevancia para seguir mejorando la gestión de GT

Neonatal Glanzmann thrombasthenia: a case report and literature review / 中国新生儿科杂志

Objective:To study the clinical features and genotypes of neonatal Glanzmann thrombasthenia(NGT).Methods:A male neonate with NGT admitted to the Department of Neonatology of our hospital was retrospectively reviewed. CNKI, Wangfang database, VIP, the Chinese Medical Journal Full Text database, PubMed and Embase database were searched using key words '(neonate OR newborn) AND (Glanzmann thrombasthenia)' both in English and Chinese. The clinical features and genotypes of NGT were summarized and analyzed.Results:A male full-term neonate was admitted to our hospital for mass on the forehead and ecchymosis and petechiae on the body within half an hour after birth. He gradually developed subgaleal hemorrhage and severe anemia. Platelet count, mean platelet volume and coagulation functions were normal. The platelet aggregation test indicated decreased platelet aggregation rate induced by arachidonic acid and adenosine diphosphate. Genetic testing revealed two heterozygous mutations in the patient's ITGA2B gene: NM_000419.4: c.886G>A(p.Gly296Arg) and NM_000419.4: c.2855dup(p.Phe953Valfs*83). A total of 42 literature involving 44 patients (our case included) with NGT were retrieved. 33 cases (75.0%) of NGT showed ecchymosis or petechiae on the first day after birth. For 13 cases with detailed information, 5 cases with severe anemia were given erythrocyte and plasma transfusion and platelet transfusion was given in 1 case. 4 cases had homozygous variants and 4 cases showed compound heterozygous variants. 10 cases had follow-up records, including 2 cases without any bleeding and 8 cases with varying degrees of bleeding during follow-up. No deaths were reported.Conclusions:Neonates with ecchymosis and petechiae in the early postnatal period should be suspected of NGT. Blood transfusion is preferred when the indication for transfusion is met.

Glanzmann thrombasthenia: Use of hemocoagulase (BotroClot) for arrest of bleeding during a primary tooth endodontic procedure

The Rationale: Glanzmann thrombasthenia is a rare platelet disorder affecting 0.0001% of the population. Dentists may often be unaware of this condition, and manipulation of soft tissue can lead to grave consequences, which may even result in fatality. Patient Concerns: In this case report, a 4?year?old patient with Glanzmann thrombasthenia reported to the department with a chief complaint of a discoloured tooth. Clinical Findings: On examination, 51 was nonvital, and pulpectomy was the treatment planned. The non?vital anterior tooth was treated with a pulpectomy procedure. There was uncontrolled bleeding during the procedure. Treatment: A topical solution of BotroClot was used to arrest the bleeding, and obturation was completed following that. The post?operative period was uneventful. Take?away Lessons: Case report explored the use of a topical hemostatic agent to arrest bleeding from the canal. This case report warrants eliciting a thorough medical history before any dental procedure.

High-power laser for periodontal surgery in a patient with glanzmann thrombasthenia / Laser de alta potência para cirurgia periodontal em paciente com trombastenia de glanzmann

Background: Glanzmann thrombasthenia (GT) is a rare autosomal recessive disorder characterized by platelet function impairment. Considering that the oral cavity is highly vascularized and performing some local hemostatic maneuvers may be difficult, GT patients are at high risk for hemorrhage related to invasive oral procedures. This study aimed to present an alternative method for periodontal surgery in a young GT patient. Case Report: A 15-year-old female GT patient with a recent history of excessive bleeding following dental surgeries was referred to a public dental center, presenting gingival hyperplasia. The procedure was performed using a high-power laser (HPL), and except for local anesthesia with epinephrine, no further hemostatic agent was necessary. Conclusion: According to the case, the HPL seems to be an efficient tool for preventing perioperative bleeding in GT patients submitted to minor oral surgeries(AU)

Introdução: A trombastenia de Glanzmann (TG) é uma doença autossômica recessiva rara caracterizada por comprometimento da função plaquetária. Tendo em vista que a cavidade oral é altamente vascularizada e a realização de algumas manobras hemostáticas locais pode ser difícil, pacientes com TG apresentam alto risco de hemorragia relacionada a procedimentos orais invasivos. Este artigo teve como objetivo apresentar uma técnica alternativa para cirurgia periodontal em um paciente jovem com TG. Relato de Caso: Paciente com TG, sexo feminino, 15 anos, com história recente de sangramento excessivo relacionado a cirurgias odontológicas prévias, foi encaminhada a um centro odontológico público apresentando hiperplasia gengival. O procedimento de remoção foi realizado com laser de alta potência e, com exceção da anestesia local com epinefrina, nenhum outro agente hemostático foi necessário. Conclusão: De acordo com o caso, o laser de alta potência parece ser uma ferramenta eficiente na prevenção de sangramento perioperatório em pacientes com TG submetidos a pequenas cirurgias orais(AU)

Effects of the ITGA2B Nonsense Mutation (c.2659C > T, p.Q887X) on Platelet Function in a Mouse Model of Glanzmann's Thrombasthenia Generated with CRISPR/Cas9 Technology / 中国实验血液学杂志

OBJECTIVE@#To construct a mouse model of Glanzmann's thrombasthenia (GT) with ITGA2B c.2659 C>T (p.Q887X) nonsense mutation by CRISPR/Cas9 technology, and then further explore the expression and function of glycoprotein αIIbβ3 on the surface of platelet membrane.@*METHODS@#The donor oligonucleotide and gRNA vector were designed and synthesized according to the ITGA2B gene sequence. The gRNA and Cas9 mRNA were injected into fertilized eggs with donor oligonucleotide and then sent back to the oviduct of surrogate mouse. Positive F0 mice were confirmed by PCR genotyping and sequence analysis after birth. The F1 generation of heterozygous GT mice were obtained by PCR and sequencing from F0 bred with WT mice, and then homozygous GT mice and WT mice were obtained by mating with each other. The phenotype of the model was then further verified by detecting tail hemorrhage time, saphenous vein bleeding time, platelet aggregation, expression and function of αIIbβ3 on the surface of platelet.@*RESULTS@#The bleeding time of GT mice was significantly longer than that of WT mice (P<0.01). Induced by collagen, thrombin, and adenosine diphosphate (ADP), platelet aggregation in GT mice was significantly inhibited (P<0.01, P<0.01, P<0.05). Flow cytometry analysis showed that the expression of αIIbβ3 on the platelet surface of GT mice decreased significantly compared with WT mice (P<0.01), and binding amounts of activated platelets to fibrinogen were significantly reduced after thrombin stimulation (P<0.01). The spreading area of platelet on fibrinogen in GT mice was significantly smaller than that in WT mice (P<0.05).@*CONCLUSION@#A GT mouse model with ITGA2B c.2659 C>T (p.Q887X) nonsense mutation has been established successfully by CRISPR/Cas9 technology. The aggregation function of platelet in this model is defective, which is consistent with GT performance.

Consenso mexicano para el diagnóstico y tratamiento de la trombastenia de Glanzmann / Mexican consensus on the diagnosis and treatment of Glanzmann thrombasthenia

Resumen Las plaquetas tienen un papel central en diferentes escenarios fisiológicos, incluyendo la hemostasia; se unen unas con otras en la agregación plaquetaria, lo cual permite formar un coágulo plaquetario. Para que la agregación sea apropiada se requiere del complejo glicoproteico IIb/IIIa (GPIIb/IIIa) en la superficie plaquetaria. Toda alteración funcional plaquetaria, hereditaria o adquirida, impide la formación adecuada del coágulo y se manifiesta como hemorragia. Las enfermedades plaquetarias hereditarias son raras y, hasta recientemente, fueron ignoradas. Una de las más reconocidas y estudiadas es la trombastenia de Glanzmann (TG), entidad en la cual el número de plaquetas puede ser normal pero la función está alterada. Es un padecimiento autosómico y recesivo que causa hemorragia de diferente intensidad toda la vida y en la cual el problema radica en precisamente en la GPIIb/IIIa. Las hemorragias son típicamente mucocutáneas: equimosis, púrpura, epistaxis, gingivorragia; menos frecuentes son la hemorragia gastrointestinal, hemartrosis o en sistema nervioso central. La hiperpolimenorrea es común en las mujeres y llega a ser tan importante que amerita transfusiones en la menarca. La TG afecta a todos los grupos étnicos y su prevalencia varía entre 1/40,000 y 1/400,000. A pesar de esta información acerca de la TG en el mundo, hay pocas guías o recomendaciones basadas en la opinión de expertos y experiencias unicéntricas. En México la TG es rara y no se cuenta con una recomendación general para su diagnóstico y tratamiento. El objetivo de este documento fue establecer un consenso y hacer sugerencias generales para su diagnóstico y tratamiento.

Abstract Platelets have a central role in several physiological scenarios including hemostasis. Platelets bind each other during platelet aggregation allowing the proper formation of the clot; to be appropriate, platelet aggregation requires the glycoproteic complex IIb/IIIa (GPIIb/IIIa). Every platelet function abnormality both, congenital or acquired, impedes clot formation and favors bleeding episodes. Hereditary platelet abnormalities are rare and, until recently, they were almost ignored. Among these disorders, Glanzmann Thrombasthenia (GT) is a widely recognized abnormality in which platelet counts may be normal, but their function is affected. GT is an autosomal, recessive disease that causes life-long bleeding of different intensity. Main biochemical abnormality resides in GPIIb/IIIa. Bleeding is typically mucocutaneous: easy bruising, purpura, and nose and gum bleeds; less frequently are gastrointestinal bleeds, hemarthrosis, or intracranial. Menorrhagia and hyperpolymenorrhea are common findings in in women and may be the cause of anemia requiring blood transfusions at fertile age. GT affects all ethnic groups and its prevalence ranges between 1/40,000 to 1/400,000. Despite this worldwide information regarding GT, only a few guidelines and recommendations have been published, most of them based on expert opinions. In Mexico, GT is rare and there is not a general recommendation regarding its diagnosis and treatment. The aim of this document was to establish a consensus to suggest a general guideline for the diagnosis and treatment of GT in Mexico.

Perioperative considerations in a girl with Glanzmann thrombasthenia. Case report / Consideraciones perioperatorias en niña con trombastenia de Glanzmann. Reporte de caso

Abstract Introduction Glanzmann thromboasthenia is a rare congenital bleeding disorder caused by a mutation in platelet glycoprotein α-IIb and β3 encoding genes (ITGA2B; 607759 and ITGB3; 173470) in chromosomes I7q21.31 and 17q21.32, respectively, which results in a qualitative or quantitative alteration of the platelet integrin αIIbβ3 (glycoprotein IIb/IIIa) receptor. Glanzmann thromboasthenia is classified as type I when less than 5% of glycoprotein αIIbβ3 is expressed, and as type II when more than 5% is expressed. Case presentation Description of the perioperative management of a 13-year-old female patient with Glanzmann thromboasthenia who underwent endoscopic anterior bilateral ethmoidectomy. Management was centered on prophylactic platelet transfusion plus the use of tranexamic acid, as well as thromboelastographic determination of hemostasis. There were no bleeding complications during or after the procedure. Conclusiones Pediatric patients with Glanzmann thromboasthenia are at a high risk of perioperastive bleeding. Platelet transfusion is the best prophylactic and therapeutic alternative; however, even in the absence of anti-platelet antibodies, it may not be effective, and viscoelastic testing must be used for assessment during the surgical procedure in order to improve patient safety.

Resumen Introducción La trombastenia de Glanzmann es un trastorno hemorrágico congénito infrecuente, causado por mutación en los genes que codifican las glucoproteínas plaquetarias α-IIb (ITGA2B; 607759) y β3 (ITGB3; 173470) en los cromosomas I7q2i.3i y I7q2i.32, respectivamente, alterando cualitativa o cuantitativamente al receptor plaquetario de integrina αIIbβ3 (glucoproteína IIb/IIIa). La trombastenia de Glanzmann se clasifica como tipo I cuando se expresa menos del 5 % de la glucoproteína αIIbβ3 y como tipo II, cuando es mayor al 5 %. Presentación del caso Se describe el manejo perioperatorio de una paciente de 13 años de edad con trombastenia de Glanzmann, sometida a etmoidectomía anterior bilateral endoscópica. El manejo se centró en la transfusión profiláctica de plaquetas y ácido tranexámico, así como en la evaluación de la hemostasia con tromboelastografía. No hubo complicaciones hemorrágicas durante y después del procedimiento. Conclusiones Los pacientes pediátricos con trombastenia de Glanzmann tienen alto riesgo de hemorragia perioperatoria. La transfusión de plaquetas es la mejor alternativa profiláctica y terapéutica; sin embargo, incluso en ausencia de anticuerpos antiplaquetarios, puede no ser efectiva y debe evaluarse mediante pruebas viscoelásticas durante los procedimientos quirúrgicos para mejorar la seguridad del paciente.

Pathogenesis and prenatal diagnosis of hereditary Glanzmann thrombasthenia / 临床儿科杂志

Objective To explore the gene sequencing and prenatal diagnosis of Glanzmann thrombasthenia (GT). Methods The blood samples were drawn from one case of phenotype GT pediatric patient, patient’s parents, and one normal control. The amniotic lfuid and cord blood from the fetus of patient’s mother were collected. When the fetus was born 2 days, the blood was drawn. The coagulation routine test and platelet aggregation test were performed. The expression of platelet membrane glycoprotein (GP) IIb and GPIIIa were tested by lfow cytometry. Microsatellite technology is used to determine whether fetal cord blood is contaminated with maternal cells. The expressed region and the junctional zone between exon and introns of GPIIb and GPIIIa were ampliifed by PCR technology from blood sample of patient, patient’s parents, and fetus’s cord and 2 days after birth. The PCR products were then subjected to DNA sequencing. Results Adenosine diphosphate (ADP) cannot induce the platelet aggregation in the patient. The max rate of the platelet aggregation in the fetus’s cord blood was half of the normal. However, the max aggregation rate induced by ADP in the blood sample of parents and fetus 2 days after birth were equal to normal. The mean lfuorescence intensity (MnX) of platelet membrane GPIIb and GPIIIa in the patient were 10%and nearly zero of the normal control, respectively, while those in the parents, the fetus’s cord blood and 2 days after birth were more than 90%and 30%to 50%of the normal control. The cast-off cells in amniotic lfuid and the DNA in cord blood analysis by microsatellite technology conifrmed that the amniotic lfuid and cord blood not contaminated by maternal cells. Gene analysis showed the heterozygosis mutation in exon6 A3829→C and exon9 G42186→A of the patient’s GPIIIa led to the amino acid heterozygosis mutation in GPIIIaHis281→Tyr and Cys400→Pro. These two mutations came from the father and the mother separately. However, there was only one heterozygosis mutation in exon9 G42186→A in the cast-off cells in amniotic lfuid, the fetus’s cord and blood 2 days after birth. Conclusion This GT patient have double heterozygosis mutation. The fetus has heterozygosis mutation conifrmed after birth.

Manejo integral hematológico-odontológico en trombastenia de Glanzmann / Hematology-dental integrated management in Glanzmann thrombasthenia

La trombastenia de Glanzmann (TG) es una enfermedad hematológica de baja frecuencia, tiene un patrón de herencia autosómica recesiva. Se caracteriza por alteración de la función plaquetaria. Se puede presentar como petequias, epistaxis, hemorragias gastrointestinales y gingivales. Se reporta el caso de un paciente de género masculino que acude a servicio odontológico universitario anexo a hospital de cuarto nivel por presentar gingivorragia severa y aflojamiento de algunos dientes. El manejo integral del paciente muestra la importancia del trabajo multidisciplinario. (Acta Med Colomb 2015; 40: 58-61).

Glanzmann's thrombasthenia (GT) is a low frequency hematologic disease with an autosomal recessive inheritance pattern. It is characterized by impaired platelet function. It It can occur as petechiae, epistaxis and gastrointestinal and gingival bleeding. The case of a male patient who attends University Dental Service annex to fourth level hospital for presenting severe gingival bleeding and loosening of some teeth is reported. The integral management of the patient shows the importance of multidisciplinary work. (Acta Med Colomb 2015; 40: 58-61).

An update on pathogenesis and treatment of Glanzmann thrombasthenia / 临床儿科杂志

Glanzmann thrombasthenia (GT) is an inherited disease of platelet function disorders characterized by mucocutaneous bleeding due to platelets failed to aggregate in response to physiologic stimuli. GT is a rare inherited disease and caused by quantitative or qualitative deifciencies of an integrin receptor GPⅡb/Ⅲa for adhesive proteins. There is no uniifed treatment strategy available so far for GT. This review summarizes the update of pathogenesis treatment progresses in GT.

A Case of Glanzmann's Thrombasthenia Successfully Managed after Tonsillectomy / 임상소아혈액종양

Glanzmann's thrombasthenia (GT) is a rare autosomal recessive disease and platelet function disorder, in which platelet membrane GP IIb/ IIIa complex is defective and platelet aggregation is undeveloped. GT is characterized by mucocutaneous hemorrhages, such as, epistaxis, purpura, gingival bleeding, and menorrhagia, severe bleeding complications during surgery. We report the case of a 6-year-old boy with GT who underwent tonsillectomy. Here, we focus on perioperative hemostatic management using recombinant factor VIIa, fibrin glue and hemostat materials.

A Case of Glanzmann's Thrombasthenia Successfully Managed after Tonsillectomy / 임상소아혈액종양

Glanzmann's thrombasthenia (GT) is a rare autosomal recessive disease and platelet function disorder, in which platelet membrane GP IIb/ IIIa complex is defective and platelet aggregation is undeveloped. GT is characterized by mucocutaneous hemorrhages, such as, epistaxis, purpura, gingival bleeding, and menorrhagia, severe bleeding complications during surgery. We report the case of a 6-year-old boy with GT who underwent tonsillectomy. Here, we focus on perioperative hemostatic management using recombinant factor VIIa, fibrin glue and hemostat materials.

Utilidad clínica de la agregometría plaquetaria / Clinical utility of platelet aggregometry

Resumen: La acción de las plaquetas en la hemostasia primaria comprende la adhesión a losvasos sanguíneos afectados, la activación, la secreción del contenido granular, y posteriormente,la agregación plaquetaria para la formación del tapón hemostático primario. Bajo las condicionesfisiológicas de flujo vascular, estos procesos requieren la acción sinérgica de varias proteínasy receptores plaquetarios, como también de agonistas que inducen la activación plaquetaria.Por ello, las mutaciones de los genes que codifican para moléculas y receptores de superficieimplicados en estos procesos darán origen a desórdenes hemorrágicos como la enfermedad devon Willebrand, la trombastenia de Glanzmann, el síndrome de Bernard Soulier y la deficienciade gránulos plaquetarios, entre otros. El diagnóstico de estas enfermedades se realiza medianteensayos de función plaquetaria que simulan los procesos fisiológicos de activación, adhesión,liberación del contenido granular y agregación. Una de las pruebas de función plaquetaria másutilizada es la agregometría. En este artículo de revisión se describe la utilidad de esta prueba parael diagnóstico de desórdenes hemorrágicos hereditarios y del síndrome de la plaqueta pegajosa,un desorden trombótico hereditario caracterizado por hiperagregabilidad. Adicionalmente, se revisa el fundamento de esta prueba, las condiciones preanalíticas, analíticas y posaanaliticas, analiticas y poanaliticas las indicaciones las contraindicaciones y la interpetación de los resultados.

Abstract: The role of platelets in primary hemostasis involves their adherence to sites of vessel injury, activation, secretion of platelet granule content, and finally, aggregation to form the primaryhemostatic plug. Under physiologic conditions of vascular flow, these processes require thesynergistic action of several proteins and platelet receptors, and also the action of physiologicalagonists that stimulate the activation of the platelets. As a result, hereditary mutations of genescodifying for molecules and surface receptors implied in primary hemostasis will be expressedas hemorrhagic disorders, including von Willebrand disease, Glanzmann thrombasthenia,Bernard Soulier syndrome, storage pool diseases, among others. The diagnosis of these diseases is possible through platelet function assays that resemble the physiological processesof activation, adhesion, release of granule content, and aggregation. Platelet aggregometry isone of the most frequently used tests. This review article intends to describe the utility of plateletaggregometry for the diagnosis of hereditary hemostatic disorders and sticky platelet syndrome, a hereditary thrombotic disorder characterized by increased platelet aggregability. In addition, the fundamentals of the test, the pre-analytical, analytical and post-analytical conditions, the test indications, contraindications and results interpretation are discussed.

Antiplatelet antibodies in cases of Glanzmann's thrombasthenia with and without a history of multiple platelet transfusion.

Antiplatelet antibodies are known to be present in a wide spectrum of patients, which include chronic Idiopathic Thrombocytopenic Purpura (ITP), infections, etc., including Glanzmann's thrombasthenia (GT) patients who receive multiple platelet transfusions. The presence of natural antibodies to platelet receptors is not studied in cases of GT. We studied the antiplatelet antibodies in 23 patients with GT, 15 of which had received multiple transfusions and eight that had not received transfusions, along with 50 cases of chronic ITP. The prevalence and specificity of platelet-bound antibodies were detected by inhibition assays using O-group platelets on flow cytometry. The mean antiplatelet antibodies in 15 patients of GT who had not received transfusions and eight patients with multiple transfusions was 8427 + 2131.88 and 9038 + 2856 antibodies/platelet, respectively, while in case of the 50 ITP patients studied, it was 22166 + 5616 antibodies/platelet (Normal Range 1500–3200 antibodies/platelet). We conclude that GT patients who have not received transfusions may develop antiplatelet antibodies to the missing/abnormal receptor. Whether this is due to a molecular mimicry or due to some other mechanism needs to be explored.

Effect of αⅡb Ala477Pro(A446P) mutation of the platelet glycoprotein on the expression of αⅡbβ3 complex / 中南大学学报(医学版)

ly reduces the expression of αⅡbβ3 complex on the membrane. This mutation may interfere the formation of αⅡbβ3 complex or impair the proper conformation of αⅡb subunit.

Anesthetic experience for orthopedic surgery on a patient with Glanzmann's thrombasthenia refractory to platelet transfusion: A case report / 대한마취과학회지

Glanzmann's thrombasthenia is an autosomal recessive bleeding disorder caused by qualitative or quantitative abnormalities of the platelet glycoprotein IIb/IIIa (GP IIb/IIIa), which can lead to excessive bleeding. Glanzmann thrombasthenia is associated with clinical variability, with some patients only having minimal bruising and others having frequent, severe and potentially fatal hemorrhages. Platelet transfusions, which used to be the standard treatment, may lead to the development of antibodies to HLA and/or GPIIb/IIIa, thereby rendering future transfusions ineffective. Glanzmann's thrombasthenia can be a severe hemorrhagic disease; however, the prognosis is excellent with careful supportive care. In this case, administering allogenic plateletpheresis to patients with Glanzmann's thrombasthenia who were refractory to platelet transfusions was found to be successful during bone surgeries.

Anesthetic Management of a Patient with Glanzmann's Thrombasthenia: A case report / 대한마취과학회지

Glanzmann's thrombasthenia is a rare autosomal recessive disorder characterized by bleeding tendency due to decreased coagulation function of platelets. Perioperative adequate blood transfusion including preoperative platelet transfusion seems to be the most important component affecting anesthetic management. Also, minimally invasive techniques should be used at the time of induction of anesthesia and the use of recombinant activated coagulation factor VII may be considered. We successfully conducted an anesthetic management for dental procedure in a four-year-old child with Glanzmann's thrombasthenia using preoperative platelet transfusion. Thus we present this anesthetic experience and share informations on anesthetic management of patients with Glanzmann's thrombasthenia.

Applicative Value of Flow Cytometry in the Diagnosis of Glanzmann's Thrombasthenia / 中国医师杂志

0 5).Conclusions The measurement of platelet membrane GPⅡbⅢa complexes by FCM can provide a simple, sensitive and reliable method for G T diagnosis,and also can be applied to analysis of GT family pedigree.

A Case of TypeI Glanzmann's Thrombasthenia Diagnosed by Flow Cytometry

Glanzmann's thrombasthenia is a rare autosomal recessive hemorrhagic disorder of platelet function with missing or abnormal platelet plasma membrane glycoprotein IIb-IIIa, which functions as a receptor for fibrinogen. We have experienced a case of thrombasthenia in a 6-year-old female whose chief complaints were easy bruising, frequent epistaxis, arthralgia and swelling of the right ankle joint. Bleeding time was prolonged in the presence of normal platelet levels and the platelet aggregation test showed lack of aggregation after exposure to ADP, epinephrine and collagen, but showed an aggregation response to ristocetin. Platelet analysis by flow cytometry is a successful alternative rapid diagnostic technique for Glanzmann's thrombasthenia patients as well as for carriers of this disease. Flow cytometry technique provides an effective tool for investigating platelet function defects caused by altered expression or deficiency of platelet surface proteins.