Glycoprotein Analysis for the Diagnostic Evaluation of Platelet Disorders

Miller, Jonathan L.

doi:10.1055/s-0029-1220330

Cited by 27 publications

(24 citation statements)

References 48 publications

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“…7 Flow cytometric analysis measures specific receptor densities of platelets and is very informative for BSS and GT, which are associated with glycoprotein (GP) deficiencies rather than dysfunction. 7,9 Flow cytometry also gives information about platelet count and reticulated platelets. Further tests are only available at specialized centers.…”

Section: Clinical Findings Laboratory Evaluation and Management Of mentioning

confidence: 99%

“…7 Immunoblotting after separating components of the GP Ib-IX-V complex with sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE) may describe the defective fragments but needs specialized interpretation. 1,2,9 Platelet-type (or pseudo) VWD Platelet-type (or pseudo) VWD is an autosomal-dominant disorder characterized by mild thrombocytopenia, large platelets, and a mild-to-moderate bleeding diathesis. GP Ib␣ gene mutations (a 27-bp deletion and 4 point mutations) that cause increased binding of GP Ib␣ to VWF have been found in patients with platelet-type VWD.…”

Section: Bernard Soulier Syndromementioning

confidence: 99%

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Inherited platelet disorders including Glanzmann thrombasthenia and Bernard-Soulier syndrome

Diz‐Küçükkaya

2013

Hematology

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Inherited platelet disorders (IPDs) are a heterogeneous group of diseases affecting platelet production, morphology, and function. The degree of thrombocytopenia and functional abnormality of platelets determines the clinical manifestations. Although severe deficiencies may cause excessive bleeding beginning in early childhood, most of IPDs have mild bleeding tendencies and therefore are not always easy to distinguish from acquired platelet disorders. The diagnosis of IPD may require extensive laboratory investigation, because current routine laboratory tests are not satisfactory for differential diagnosis in some cases, and most of the specific tests are not readily available in many countries. This review summarizes the classification and clinical and molecular characteristics of known IPDs, including Bernard-Soulier syndrome and Glanzmann thrombasthenia, with a focus on current challenges in the laboratory diagnosis and management of bleeding in these patients.

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Section: Clinical Findings Laboratory Evaluation and Management Of mentioning

confidence: 99%

Section: Bernard Soulier Syndromementioning

confidence: 99%

Inherited platelet disorders including Glanzmann thrombasthenia and Bernard-Soulier syndrome

Diz‐Küçükkaya

2013

Hematology

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“…Die Anwendung erfolgt insbesondere als Bestätigungsdiagnostik bei pathologischen Befunden in der Aggregometrie. So ist beispielsweise eine durchflusszytometrische Detektion von Rezeptordefekten wie bei der GT (GP IIb-IIIa) oder dem BSS (GPIb-VI-X) mit Nachweis einer reduzierten oder fehlenden Bindung spezifischer Antikörper möglich [15]. Neben dem primären Einsatz in der Quantifizierung von Thrombozytenassoziierten Glykoproteinen ist eine Bestimmung von Granula-assoziierten Faktoren möglich.…”

Section: Adpunclassified

Update: Thrombozytopathie/Thrombocytopathy: an update

Drogies¹,

Braunert²,

Thiery³

et al. 2011

LaboratoriumsMedizin

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ZusammenfassungDer Begriff Thrombozytopathie bezeichnet angeborene oder erworbene funktionelle Störungen der Thrombozytenfunktion. Aufgrund der Vielzahl von möglichen pathophysiologischen Ursachen, basierend auf der Komplexität thrombozytärer Funktionsabläufe und Stoffwechselprozesse, zeigen Thrombozytopathien eine außerordentlich hohe klinische Variabilität. Eine Abbildung der Pathophysiologie ist mit den verfügbaren labordiagnostischen Verfahren nur sehr eingeschränkt möglich, da sich für verschiedene Thrombozytopathien sehr variable Sensitivitäten und Spezifitäten ergeben. Nicht zuletzt wird die Interpretation durch die hohe intraund interindividuelle Variabilität der Thrombozytenfunktion erschwert. In der Routine-Abklärung von Thrombozytopathien stehen eine detaillierte Anamnese und klinische Untersuchung in Kombination mit aggregometrischen Basisverfahren weiterhin im Vordergrund.Abstract "Thrombocytopathia" describes inherited or acquired functional disorders of platelets. The complexity of functional and metabolic processes in platelets is associated with a multitude of possible pathologic disturbances, showing a high variability in the clinical picture. The diagnosis of thrombocytopathies by existing laboratory methods is limited by variable sensitivities and specificities for various pathophysiologic backgrounds. Furthermore, the clinical evaluation of laboratory results is complex because of high intra-and interindividual variability of the platelet function. In daily routine diagnostics, a detailed patient history and clinical examination combined with aggregometry-based laboratory methods remains the central approach to diagnose a platelet function disorder.

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“…The role of platelets in hemostasis, clinically relevant bleeding resulting from defects and/or deficiencies in platelets and/or platelet components, and the diagnosis of such defects was the subject of a previous recent issue of Seminars in Thrombosis and Hemostasis. [1][2][3][4][5][6][7][8][9][10][11][12][13] That platelets are of considerable interest to readers of this journal can also be highlighted by the popularity of a previous review published here, ''Platelets: Physiology and Biochemistry. 14 15 and was also subsequently awarded one of the inaugural (2009) Eberhard F. Mammen awards for most popular articles.…”

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confidence: 99%