Haemophilia testing of young girls in Canada: Describing the current recommendations for factor level and genetic testing and the experiences of Canadian parents.

ABSTRACT:

Introduction

It is widely acknowledged that haemophilia affects women and girls, yet current testing recommendations for factor level and genetic testing vary and do not universally incorporate updated research. Canadian parents have expressed frustration at inconsistent recommendations and reported instances where delayed testing led to missed diagnosis and preventable bleeding.

Aim

Study aim was to explore and describe the practice of haemophilia-related testing of young girls in Canada.

Methods

A mixed methods study was carried out with two populations: (1) Nurses working in haemophilia care completed a survey regarding the current testing recommendations of their Haemophilia Treatment Centre (HTC), (2) Parents of obligate or potential haemophilia carriers complete

SUBMITTER: Chaigneau M 

PROVIDER: S-EPMC11659482 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature