DIAPH1 Mutation as a Novel Cause of Autosomal Dominant Macrothrombocytopenia and Hearing Loss

Nabin Raj Karki, Germame H Ajebo, Natasha Savage, Abdullah Kutlar

Research output: Contribution to journalArticle

Abstract

Macrothrombocytopenia (MTP) is a group of rare disorders characterized by giant platelets, thrombocytopenia, and variable association with abnormal bleeding. Inherited MTP are frequently misdiagnosed as immune thrombocytopenia. Associated second-organ manifestation can help narrow down syndromic MTPs. We describe a case of autosomal dominant sensorineural hearing loss and MTP caused by a gain of function mutation in DIAPH1. This mutation causes altered megarkaryopoiesis and platelet cytoskeletal deregulation. Although hearing loss and MTP were likely progressive, clinically significant bleeding was not observed. DIAPH1-related MTP can be distinguished clinically from MYH9 mutation by the absence of cataracts and glomerular disease.

Original languageEnglish (US)
JournalActa Haematologica
DOIs
StateAccepted/In press - 2020

Keywords

  • DIAPH1
  • Giant platelets
  • Hearing loss
  • Macrothrombocytopenia

ASJC Scopus subject areas

  • Hematology

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