Hereditary thrombocytopenia due to reduced platelet production. Report on two families and mutational screening of the thrombopoietin receptor gene (c-mpl)

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

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)931-936
Number of pages6
JournalThrombosis and Haemostasis
Volume83
Issue number6
Publication statusPublished - 2000

Keywords

  • c-Mpl
  • Hereditary thrombocytopenia
  • Tpo

ASJC Scopus subject areas

  • Hematology

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    Tonelli, R., Strippoli, P., Grossi, A., Savoia, A., Iolascon, A., Savino, M., Teriaca, M. S., Servedio, V., Morfini, M., Zelante, L., Borgna-Pignatti, C., Rosito, P., Pession, A., Paolucci, G., & Bagnara, G. P. (2000). Hereditary thrombocytopenia due to reduced platelet production. Report on two families and mutational screening of the thrombopoietin receptor gene (c-mpl). Thrombosis and Haemostasis, 83(6), 931-936.