Erblich bedingte Thrombozytopenien

Translated title of the contribution: Inherited thrombocytopenias

M. Ballmaier, C. Balduini, K. Welte, M. Germeshausen

Research output: Contribution to journalArticlepeer-review


Inherited thrombocytopenias are a heterogeneous group of rare diseases characterized by reduced numbers of blood platelets. The clinical spectrum ranges from severe syndromal forms with multiorgan involvement and severe bleeding to mild conditions that may remain undetected. In most cases, defects have been described in genes coding for membrane glycoproteins, cytoskeletal components, intracellular signaling pathways, and transcription factors. However, the pathophysiologic mechanisms remain elusive in a number of diseases. This review describes pathophysiologic, clinical, and diagnostic aspects of inherited thrombocytopenias.

Translated title of the contributionInherited thrombocytopenias
Original languageGerman
Pages (from-to)510-521
Number of pages12
JournalMonatsschrift fur Kinderheilkunde
Issue number6
Publication statusPublished - Jun 2006


  • Bleeding diathesis
  • Thrombocytopathy
  • Thrombocytopenia

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


Dive into the research topics of 'Inherited thrombocytopenias'. Together they form a unique fingerprint.

Cite this