Impact of Family History of Haemophilia on Diagnosis, Management and Outcomes in Severe Haemophilia.

ABSTRACT:

Introduction

Patients with severe haemophilia A (HA) with no family history of haemophilia will be diagnosed upon their first bleeding event.

Methods

Herein, we studied the effects of lack of family history in HA and the subsequent delay of diagnosis on bleeding pattern and early treatment, as well as on the risk of inhibitor development. For this purpose, data on 1237 severe HA patients with known family history ("positive" or "negative"), born between 2000 and 2022, were collected in 29 participating centres.

Results

At diagnosis, 45.9% (554/1208) of patients had a positive family history of HA and 54.1% (654/1208) had a negative family history. A positive family history significantly shortened the time to diagnosis (8 months) and the treatment initiation (2 months)

SUBMITTER: Mendoza A 

PROVIDER: S-EPMC12311892 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature