Hereditary Thrombocytopenia due to Reduced Platelet Production

Roberto Tonelli; Pierluigi Strippoli; Alberto Grossi; Anna Savoia; Achille Iolascon; Maria Savino; Maria Soccorsa Teriaca; Veronica Servedio; Massimo Morfini; Leopoldo Zelante; Caterina Borgna-Pignatti; Pasquale Rosito; Andrea Pession; Guido Paolucci; Gian Paolo Bagnara

doi:10.1055/s-0037-1613945

Thrombosis and Haemostasis, Table of Contents

Thromb Haemost 2000; 83(06): 931-936
DOI: 10.1055/s-0037-1613945

Commentary

Schattauer GmbH

Hereditary Thrombocytopenia due to Reduced Platelet Production

Report on two Families and Mutational Screening of the Thrombopoietin Receptor Gene (c-mpl)

Roberto Tonelli

¹From the Institute of Histology and Embriology, University of Bologna, Bologna, Italy

⁷G. Prodi Interdepartmental Center for Cancer Research, University of Bologna, Bologna, Italy

,

Pierluigi Strippoli

¹From the Institute of Histology and Embriology, University of Bologna, Bologna, Italy

,

Alberto Grossi

²Division of Hematology, University of Florence, Policlinico Careggi, Florence, Italy

,

Anna Savoia

³Medical Genetics Service, IRCCS-CSS Hospital, San Giovanni Rotondo, Foggia, Italy

,

Achille Iolascon

⁴Department of Biomedicine of Evolutive Age, University of Bari, Bari, Italy

,

Maria Savino

³Medical Genetics Service, IRCCS-CSS Hospital, San Giovanni Rotondo, Foggia, Italy

,

Maria Soccorsa Teriaca

⁷G. Prodi Interdepartmental Center for Cancer Research, University of Bologna, Bologna, Italy

,

Veronica Servedio

⁴Department of Biomedicine of Evolutive Age, University of Bari, Bari, Italy

,

Massimo Morfini

²Division of Hematology, University of Florence, Policlinico Careggi, Florence, Italy

,

Leopoldo Zelante

³Medical Genetics Service, IRCCS-CSS Hospital, San Giovanni Rotondo, Foggia, Italy

,

Caterina Borgna-Pignatti

⁵Department of Pediatrics, University of Ferrara, Ferrara, Italy

,

Pasquale Rosito

⁶Department of Pediatrics III, University of Bologna, Bologna, Italy

⁷G. Prodi Interdepartmental Center for Cancer Research, University of Bologna, Bologna, Italy

,

Andrea Pession

⁶Department of Pediatrics III, University of Bologna, Bologna, Italy

,

Guido Paolucci

⁶Department of Pediatrics III, University of Bologna, Bologna, Italy

⁷G. Prodi Interdepartmental Center for Cancer Research, University of Bologna, Bologna, Italy

,

Gian Paolo Bagnara

¹From the Institute of Histology and Embriology, University of Bologna, Bologna, Italy

⁷G. Prodi Interdepartmental Center for Cancer Research, University of Bologna, Bologna, Italy

› Author Affiliations

Abstract

Summary

Hereditary thrombocytopenias represent heterogeneous clinical and genetic syndromes. They include a consistent group of families which are considered as a separate clinical entity, characterized by autosomal dominant transmission, incomplete penetrance in females, chronic thrombocytopenia with early age of onset and frequently increased platelet volume, without any other hematologic abnormality. The molecular defect in these families is still unknown. We describe 2 families in 3 generations (10 patients), and report the first study of the TPO/ c-mpl system in autosomal dominant thrombocytopenia. We performed mutational screening of c-mpl coding, flanking introns and promoter regions in 2 probands from the two families by DNA sequencing. The results do not provide evidence of c-mpl sequence alterations in either of the 2 families investigated. Moreover, the normal TPO serum levels detected in 5 patients from each family leads us to exclude the possibility of a defect in TPO production in our families. Finally, the involvement of both c-mpl and TPO genes in the pathogenesis of thrombocytopenia in these two families was excluded by negative results of linkage analysis.

Keywords

c-Mpl - Tpo - hereditary thrombocytopenia

Full Text

References

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