Hemoglobinopathy screening in primary care in the Netherlands: exploring the problems and needs of patients and general practitioners.

ABSTRACT: The prevalence of hemoglobinopathies in The Netherlands is increasing due to migration. Hemoglobinopathies are severe hereditary diseases. An informed reproductive choice by at-risk couples, such as pre-implantation diagnosis or termination of affected pregnancies, can be made if carriers are detected prior to conception. Using a qualitative design, the needs and wishes of patients, carriers and general practitioners were evaluated regarding carrier detection of hemoglobinopathies in primary care practice. 30 semi-structured interviews were established with 10 general practitioners, 10 patients and 10 carriers. The interviews were audio-recorded, transcribed verbatim and analysed using content analysis to identify recurring themes. Three themes were generated regarding carrier detection of

SUBMITTER: van Vliet ME 

PROVIDER: S-EPMC10133269 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature