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[Therapy of inherited diseases of platelet function. Interdisciplinary S2K guideline of the Permanent Paediatric Committee of the Society of Thrombosis and Haemostasis Research (GTH e. V.)].

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Updated: Jun 10, 2026

Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay

Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay

Published on: September 9, 2012

[Congenital thrombocytopathies].

C M Kirchmaier¹, D Pillitteri

¹Sektion Innere Medizin I, Deutsche Klinik für Diagnostik, Aukammallee 33, 65191 Wiesbaden, Deutschland. kirchmaier.hst@dkd-wiesbaden.de

|August 21, 2010

Summary

Inherited thrombocytopathies, rare congenital platelet disorders, cause severe bleeding and are often undiagnosed. This review covers their diverse defects, diagnosis, and treatment options.

Area of Science:

Hematology
Genetics
Molecular Biology

Context:

Inherited thrombocytopathies are rare compared to acquired platelet disorders.
Congenital platelet function disorders can lead to severe bleeding tendencies.
These disorders are frequently misdiagnosed or undiagnosed.

Purpose:

To provide an overview of inherited thrombocytopathies.
To discuss the diverse underlying platelet defects.
To outline diagnostic and treatment strategies.

Summary:

Inherited thrombocytopathies result from various platelet defects affecting adhesion, receptors, secretion, and signal transduction.
Some cases present with thrombocytopenia, giant platelets, and comorbidities.
This article reviews the spectrum of these congenital disorders.

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Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay

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Published on: September 9, 2012

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Impact:

Enhances understanding of rare bleeding disorders.
Aids in the diagnosis and management of inherited thrombocytopathies.
Improves patient outcomes by highlighting treatment options.