Inherited thrombocytopenias: the beat goes on

Blood. 2015 Jan 29;125(5):748-50. doi: 10.1182/blood-2014-11-610675.

Abstract

In this issue of Blood, Bottega et al document mutations in ACTN1, which encodes the cytoskeletal protein α-actinin 1, in 10 of 239 consecutive probands with an inherited thrombocytopenia--making ACTN1 an important cause of familial thrombocytopenia.

Publication types

  • Comment

MeSH terms

  • Actinin / genetics*
  • Blood Platelets / metabolism*
  • Female
  • Humans
  • Male
  • Mutation, Missense*
  • Phenotype*
  • Thrombocytopenia / genetics*

Substances

  • ACTN1 protein, human
  • Actinin