Phenotype description and response to thrombopoietin receptor agonist in DIAPH1-related disorder

Blood Adv. 2018 Sep 25;2(18):2341-2346. doi: 10.1182/bloodadvances.2018020370.

Abstract

  1. DIAPH1-related disorder has a bilineage hematological phenotype of macrothrombocytopenia and neutropenia associated with hearing loss.

  2. Eltrombopag increased proplatelet formation from cultured DIAPH1-related disorder megakaryocytes and improved platelet counts in vivo.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing / chemistry
  • Adaptor Proteins, Signal Transducing / genetics*
  • Adolescent
  • Adult
  • Aged
  • Biomarkers
  • Child
  • Child, Preschool
  • Female
  • Formins
  • Genetic Association Studies*
  • Humans
  • Male
  • Middle Aged
  • Pedigree
  • Phenotype*
  • Receptors, Thrombopoietin / agonists*
  • Signal Transduction
  • Thrombocytopenia / blood
  • Thrombocytopenia / genetics
  • Thrombocytopenia / metabolism
  • Young Adult

Substances

  • Adaptor Proteins, Signal Transducing
  • Biomarkers
  • DIAPH1 protein, human
  • Formins
  • Receptors, Thrombopoietin