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Thromb Haemost 2007; 98(06): 1291-1297
DOI: 10.1160/TH07-06-0426
Platelets and Blood Cells
Schattauer GmbH

Decreased platelet reactivity identified by whole blood flow cytometry in Fanconi anaemia patients

Susanne Holzhauer
1   University Children’s Hospital, University of Wuerzburg, Germany
,
Ana-Gabriela Sitaru
1   University Children’s Hospital, University of Wuerzburg, Germany
2   Institute of Clinical Biochemistry and Pathobiochemistry, Central Laboratory, University of Wuerzburg, Germany
,
Wolfram Ebell
4   University Children’s Hospital, Charité, Berlin, Germany
,
Detlev Schindler
5   Department of Human Genetics, University of Wuerzburg, Germany
,
Helmut Hanenberg
6   Children’s Hospital, Heinrich Heine University and Medical Center, Duesseldorf, Germany
,
Johannes Wirbelauer
1   University Children’s Hospital, University of Wuerzburg, Germany
,
Ulrich Walter
2   Institute of Clinical Biochemistry and Pathobiochemistry, Central Laboratory, University of Wuerzburg, Germany
,
Ralf Grossmann
2   Institute of Clinical Biochemistry and Pathobiochemistry, Central Laboratory, University of Wuerzburg, Germany
3   Haemophilia Centre, Department of Internal Medicine III, Division of Cardiology/ Institute of Transfusion Medicine, University Hospital Frankfurt, Germany
› Author Affiliations Financial support: This study was supported by Baxter GmbH.
Further Information

Publication History

Received 26 June 2007

Accepted after resubmission 26 September 2007

Publication Date:
30 November 2017 (online)

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Summary

disorder characterized by congenital anomalies and a high risk for bone marrow failure and cancer. Bleeding is a frequent complication in FA, leading to substantial morbidity and mortality. Thrombocytopenia is a major factor leading to this complication, but the bleeding tendency of FA patients often exceeds what one might expect based on their platelet counts. We therefore investigated if alterations of platelet function contribute to the bleeding tendency of FA patients. We assessed platelet function in 11 FA patients and 23 controls with whole blood flow cytometry. We analyzed the expression of platelet membrane glycoprotein receptors, reactivity of platelets to physiologic agonists and the proportion of young platelets. In FA patients platelet PAC-1 after stimulation with thrombin receptor activating peptide (TRAP) and adenosine diphosphate (ADP) were 15–70% lower than in controls. We found no or only minor differences of platelet glycoprotein receptor expression between groups. While the proportion of reticulated platelets was not different, the absolute number of reticulated platelets was markedly lower in FA patients. Our data show that FA is associated with reduced platelet reactivity, which may contribute to the high bleeding tendency in FA patients. Whole blood flow cytometry is a suitable method for analysis of platelet function in FA patients.

Keywords

Fanconi anaemia - thrombocytopenia - platelet function - bleeding risk - flow cytometry
 

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