Glanzmann's thrombasthenia: the spectrum of clinical disease

George, JN; Caen, J; Nurden, AT

doi:10.1182/blood.v75.7.1383.bloodjournal7571383

Cited by 189 publications

(50 citation statements)

References 28 publications

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“…Menorrhagia was found to be one of the most common clinical findings in adolescent girls. These findings were similar to the studies in the literature [7,18,19].…”

Section: Discussionsupporting

confidence: 92%

“…Patients with type 2 GT have a CD41a/CD61 expression level of 5-20% in their platelets. These patients have significant platelet alpha granule fibrinogen and normal or moderate clot retraction [7]. The presence of the fibrinogen storage pool is consistent with a preserved fibrinogen receptor function.…”

Section: Introductionsupporting

confidence: 57%

“…The classification of GT is based on the content of platelet alpha granules, the degree of fibrinogen and clot retraction, and the expression level of CD41a/CD61. GT has three subgroups, including type 1, type 2 and type 3 [5,7,8]. Type 1 GT is the most common subgroup with CD41a/CD61 expression levels below 5% and low levels of fibrinogen in alpha granules of activated platelets that bind poorly to fibrinogen [7,9].…”

Section: Introductionmentioning

confidence: 99%

“…Type 3 GT (variant type) is defined as patients presenting the clinical phenotype of GT but expressing CD41a/CD61 in amounts greater than 20% that normally support platelet aggregation [7,10,11]. It is characterized by a lack of activated platelets due to antibodies or soluble fibrinogen, which identify factors related to activation on αIIbβ3 integrin.…”

Section: Introductionmentioning

confidence: 99%

“…Fatal bleeding episodes occur during a lifetime of a patient with GT, while the prevalence of severe bleeding decreases with age [12]. There is insufficient evidence to support the relationship between gene defect in GT and the severity of bleeding, as affected individuals show different bleeding tendencies, even in the same family or ethnic group [7].…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2021

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Flow cytometric analysis of platelet surface glycoproteins in the diagnosis of thirtytwo Turkish patients with Glanzmann thrombasthenia: a multicenter experience Abstract Background/aim: Glanzmann thrombasthenia (GT) is a rare autosomal recessively inherited bleeding disorder characterized by the quantitative (type 1 and type 2) or qualitative (type 3) deficiency in platelet membrane glycoprotein (GP) IIb/IIIa (CD41a/CD61) fibrinogen receptors. In type 1, 2 and 3, CD41a/CD61 expression is 5%, 5-20% and above 20%, respectively. In this study, diagnosis of GT was confirmed and subgroups were identified in 32 Turkish patients by flow cytometry analysis.Materials and methods: CD41a/CD61 expression levels in platelet-rich plasma (PRP) obtained from peripheral venous EDTA blood samples were analyzed with a BD FACSCanto II flow cytometer (Becton Dickinson, Franklin Lakes, NJ, USA). GT subgroup analysis was performed by counting 50000 events in the BD FACSDiva Software v6.1.3 program of the instrument. Results:In the present study, in blood samples of 32 patients from 23 family with GT and 22 healthy controls, co-expression levels of CD41a and CD61 in PRP was analyzed.12 out of 23 families were consistent with type 1 GT (52.2%), 4 were consistent with type 2 GT (17.4%) and 7 were consistent with type 3 GT (30.4%). Conclusion:Especially due to consanguineous marriages, GT with various glycoprotein levels may be detected. As a result of the flow cytometry analysis of the present study with the highest GT patient population in Turkey, type 1 GT patients were the most common subgroup. In the determination of the GT subgroups; especially in the detection of type 3 GT, flow cytometry is the most sensitive glycoprotein analysis method. In 2 addition to light transmission aggregometry, CD41a/CD61 study by flow cytometer confirms diagnosis when mutation analysis cannot be performed.

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“…Menorrhagia was found to be one of the most common clinical findings in adolescent girls. These findings were similar to the studies in the literature [7,18,19].…”

Section: Discussionsupporting

confidence: 92%

Section: Introductionsupporting

confidence: 57%