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

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

Research output: Contribution to journalArticlepeer-review

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)
Pages (from-to)91-94
Number of pages4
JournalActa Haematologica
Volume144
Issue number1
DOIs
StatePublished - Jan 2021

ASJC Scopus subject areas

  • Hematology

Fingerprint

Dive into the research topics of 'DIAPH1 Mutation as a Novel Cause of Autosomal Dominant Macrothrombocytopenia and Hearing Loss'. Together they form a unique fingerprint.

Cite this