Bleeding risks for uncharacterized platelet function disorders.

ABSTRACT:

Background

The bleeding risks for nonsyndromic platelet function disorders (PFDs) that impair aggregation responses and/or cause dense granule deficiency (DGD) are uncertain.

Objectives

Our goal was to quantify bleeding risks for a cohort of consecutive cases with uncharacterized PFD.

Methods

Sequential cases with uncharacterized PFDs that had reduced maximal aggregation (MA) with multiple agonists and/or nonsyndromic DGD were invited to participate along with additional family members to reduce bias. Index cases were further evaluated by exome sequencing, with analysis of RUNX1-dependent genes for cases with RUNX1 sequence variants. Bleeding assessment tools were used to estimate bleeding scores, with bleeding risks estimated as odds ratios (ORs) relati

SUBMITTER: Brunet J 

PROVIDER: S-EPMC7354414 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature