Clinico-hematological and thromboelastographic profiles in glanzmann's thrombasthenia (original) (raw)
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Glanzmann Thrombasthenia: A Clinicopathological Profile
Journal of the College of Physicians and Surgeons--Pakistan : JCPSP, 2016
OBJECTIVE To describe the clinical presentation of patients with Glanzmann's thrombasthenia (GT) and evaluate their diagnostic, clinical, and laboratory parameters including platelet aggregometry. STUDY DESIGN Descriptive study. PLACE AND DURATION OF STUDY Department of Hematology and Blood Transfusion, The Children Hospital and Institute of Child Health, Lahore, from January 2006 to December 2013. METHODOLOGY Patients presenting with mucocutaneous bleeding during study period and evaluated for diagnosis of inherited platelet function disorder, were included. Clinical data and family history were recorded. Laboratory investigations including complete blood count (CBC), peripheral blood smear (PBS), bleeding time (BT), activated partial thromboplastin time (APTT), prothrombin time (PT), and platelet aggregation studies were evaluated. RESULTS Among 796 patients, 163 (20.4%) patients were diagnosed with Glanzmann's thrombasthenia. The male to female ratio was 1.2:1. Their mean...
Journal of Blood Medicine, 2021
Glanzmann thrombasthenia (GT) is a rare autosomal recessive disorder of fibrinogen-mediated platelet aggregation due to a quantitative or qualitative deficit of the α IIb β 3 integrin at the platelet surface membrane resulting from mutation(s) in ITGA2B and/or ITGB3. Patients tend to present in early childhood with easy bruising and mucocutaneous bleeding. The diagnostic process requires consideration of more common disorders of haemostasis and coagulation prior to confirming the disorder with platelet light transmission aggregation, flow cytometry of CD41 and CD61 expression, and/or exon sequencing of ITGA2B and ITGB3. Antifibrinolytic therapy, recombinant activated factor VII, and platelet transfusions are the mainstay of therapy, although the latter may trigger formation of antiplatelet antibodies in GT patients and inadvertent platelet-refractory disease. The management of these patients therefore remains complex, particularly in the context of trauma, labour and delivery, and perioperative care. Bone marrow transplantation remains the sole curative option, although the venue of gene therapy is being increasingly explored as a future alternative for definitive treatment of GT.
Glanzmann's Thrombasthenia: A Review Study
Research and reviews: journal of nursing and health sciences, 2016
Platelets are found in blood and they perform the functions of hemostasis whenever there is a damage in subendothelial happens platelets actives and aggregate to form a platelet plug in order to maintain hemostasis Glanzmann’s thrombocytopenia is a disease discovered by Glanzmann’s in 1918. It’s a genetic platelet surface receptor defects of GPIIb / IIIa. Either qualitative or quantitative. It will result in abnormal platelet agreegation and clot retraction. Several bleeding episodes are symptoms of GT including epistaxis, gingival bleeding etc. the management of GT could be done by various local measures and many anti - fibrinolytic agents and desmopressin etc. Heeding to recent studies the treatment options included retiuximab, bevacizumab and rFVIIa etc bone marrow transplantation and stem cell therapy is a great option of treatment but very rarely using methods of treatment because have less chances of successful results and a painful and costly therapy it ishe objective of this...
Background:Glanzmann's Thrombasthenia (GT) is a rare autosomal, recessive, bleeding syndrome. The main aim of this study was to investigate the relationship between symptoms, bleeding severity, and gender and subtypes of GT by platelet immunophenotyping. Materials and Methods:Ninety five patients with Glanzmann's Thrombasthenia (GT) were assessed for the expression of GPIIb-IIIa on the platelet surface using flow cytometry, to determine the most common GT subtypes among Iranian patients. We also evaluated the severity of bleeding phenotype, and classified them as mild, moderate, or severe bleeders. Results: On the basis of their platelet GPIIb-IIIa levels, 73 patients (77%) were classified as type I, 16 patients (17%) as type II, and 6 patients (6%) as type III. Historically, 15 of 95 patients had experienced minor bleeding, 32 reported clinically significant bleeding, and 48 patients had suffered severe bleeding. Thirty eight patients had needed packed red blood cell transfusion. However, no significant correlation was found between bleeding severity and subtypes of GT (p >0.05). Conclusion: Our study showed that there was no correlation between quantitative changes in the surface expression of platelet membrane glycoproteins, and the intensity and frequency of bleeding episodes in patients with GT.
Utility of the ISTH bleeding assessment tool (BAT) in diagnosis of Glanzmann Thrombasthenia patients
Pakistan Journal of Medical Sciences, 2022
Objectives: To assess the utility of ISTH-BAT (International Society on Thrombosis and Hemostasis- Bleeding Assessment Tool) in the diagnosis of Glanzmann Thrombasthenia (GT) in comparison to controls. Methods: It was a case-control study carried out at The Children’s Hospital, Lahore from January 2012 to May 2021. All patients from neonates to 18 years with a final diagnosis of GT were studied retrospectively. The clinical details were collected from hospital records and telephonically on ISTH-BAT questionnaire after taking informed consent. The same proforma was obtained from 75 healthy controls. Data was analyzed on SPSS version 26. Results: Out of 427 patients with suspected platelet function disorders, 133 were diagnosed as GT. The mean age was 7.29±5 years. Male to female ratio was 1.1:1. Among cases, 76.6% were products of consanguineous marriage. Epistaxis was the commonest symptom with highest score (p value<0.001). Cutaneous and oral cavity bleeds were more severe and f...
Glanzmann thrombasthenia: An update
Clinica Chimica Acta, 2010
Glanzmann thrombasthenia (GT) is a rare autosomal recessive disorder characterized by qualitative or quantitative abnormalities of the platelet membrane glycoprotein (GP) IIb/IIIa. Physiologically, this platelet receptor normally binds several adhesive plasma proteins, and this facilitates attachment and aggregation of platelets to ensure thrombus formation at sites of vascular injury. The lack of resultant platelet aggregation in GT leads to mucocutaneous bleeding whose manifestation may be clinically variable, ranging from easy bruising to severe and potentially life-threatening hemorrhages. In this review we discuss the main characteristics of GT, focusing on molecular defects, diagnostic evaluation and treatment strategies.
Diagnostic tool for Glanzmann's thrombasthenia clinicopathologic spectrum
2008
Objective: To platelet aggregometry and describe the clinical spectrum of Glanzmann's thrombasthenia diagnosed by platelet aggregometry. Study Design: A case-series. Place and Duration of Study: This study was carried out at the clinical laboratories at the Aga Patients and Methods: All patients irrespective of age and gender presenting with bleeding symptoms and having normal platelet count were evaluated. Demographic details, relevant clinical history along with results of complete blood count, bleeding time and platelet aggregation studies were retrieved through computerized data base and evaluated for the diagnosis of Glanzmann's thrombasthenia. Results: During the study period, 50 out of 2317 patients (2.2%) were diagnosed as Glanzmann's thrombasthenia by platelet aggregometry with male to female ratio of 0.85:1 and median age of 10.2 years (ranging from 3 months to 27 years). Common symptoms were epistaxis, oral and gingival bleed, bleeding from minor cuts and trauma that were observed in 46% of the patients; while 18%, 8% and 10% of them also complained of bruising, hematuria and bleeding per rectum respectively. Majority i.e. 86% had a bleeding time greater than 10 minutes. All patients had received blood or blood products for their bleeding episodes. Conclusion: Platelet aggregometry is a useful diagnostic modality for the assessment of Glanzmann's thrombasthenia. The disorder presents with muco-cutanoeus bleeding and was found to be a common cause of bleeding in our setup.
Glanzmann Thrombasthenia (GT) is a rare autosomal recessive bleeding disorder affecting the megakaryocyte lineage. The incidence of this disorder is higher in communities where consanguinity is prevalent like Jordan, Iran, South India and Iraqi Jews [1,2]. The molecular basis shows the quantitative and/or qualitative abnormalities of the platelet fibrinogen receptor, the aIIbb3 integrin (glycoprotein (GP) IIb/IIIa, CD41/CD61) which mediates the incorporation of platelets into an aggregate or thrombus at the sites of vessel injury [3]. Clinical manifestations in GT usually start in childhood and have clinical variability; ranging from minimal bruising to severe and potentially fatal haemorrhages. Diagnosis is associated with mucocutaneous bleeding with no platelet aggregation in response to all physiologic stimuli, a normal platelet count and morphology. Deficient or non-functional platelet aIIbb3 should be confirmed using flow cytometry. Genetic studies reveal multiple mutations that can affect the GPIIb/IIIa complex assembly on the platelet membrane. Standard treatment includes platelet transfusion to stop bleeding when conservative measures fail, but repeated transfusions may result in the development of antibodies (alloimmunization) against GPIIb/IIIa and/or human leucocyte antigen (HLA), resulting in refractoriness to further platelet transfusion [4].
A CASE REPORT ON GLANZMANN’S THROMBASTHENIA
Glanzmann’s thrombasthenia (GT) is a rare autosomal recessive disorder in which the platelet glycoprotein IIb/IIIa (GP IIb/IIIa) complex is either deficient or, dysfunctional. The incidence is about 1 in 1,000,000. It is more common in populations where marriage between blood relatives is common. The signs of GT occur early in life and include easy bruising, epistaxis and prolonged bleeding from minor injuries. Epistaxis, menorrhagia, postpartum bleeding and surgical bleeding can be life-threatening. Here we are presenting a case of 4 year old female child with recurrent epistaxis and gingival bleeding for past one year. Diagnosis associates prolonged bleeding time with absent platelet aggregation in response to all physiological stimuli except ristocetin, with normal platelet count and morphology. Coagulation tests such as prothrombin time and partial thromboplastin time are normal. The cure for the disease does not exist; the only effective therapy consists of transfusions of fresh platelets or platelet concentrates. With proper supportive care Glanzmann’s thrombasthenia has a very good prognosis. Keywords: Glanzmann’s thrombasthenia, Platelet disorder, Epistaxis, Glycoprotein IIb/IIIa (GP IIb/IIIa) complex, gingival bleeding, Platelet aggregation.