The Danish national haemoglobinopathy screening programme: Report from 16 years of screening in a low-prevalence, non-endemic region

Esther Agnethe Ejskjaer Gravholt, Jesper Petersen, Mathis Mottelson, Amina Nardo-Marino, Mathias Rathe, Marianne Olsen, Charlotte Holm, Finn Stener Jørgensen, Henrik Birgens, Andreas Glenthøj*

*Corresponding author af dette arbejde
1 Citationer (Scopus)

Abstract

The Danish national haemoglobinopathy screening programme seeks to determine parental haemoglobinopathy carrier state antenatally. In this retrospective register-based study, we evaluated the 16-year trajectory of this programme, utilising the Danish Red Blood Cell Centre's laboratory database, covering approximately 77% of the Danish population. During the study period, we observed a substantial increase in annual diagnostic examinations performed, from 389 in 2007 to 3030 in 2022. Women constituted 88% of these cases, aligning with the emphasis of the screening programme. Of these, 54% of women of reproductive age (15-40 years) and 10% of women >40 years were specified as pregnant. During our study period, 61 children were born with a severe haemoglobinopathy, out of which 23 children were born from mothers not residing in Denmark during their first trimester thus not included in the screening programme. Prenatal invasive testing was performed for 60 fetuses, identifying 12 with homozygous or compound heterozygous haemoglobinopathy. The Danish haemoglobinopathy screening programme has provided screening, information and reproductive choices for numerous families. During the study period, screening for haemoglobinopathies has been steadily increasing and is expected to continue to increase. Awareness of and adherence to the screening programme is subject of further investigation and optimisation.

OriginalsprogEngelsk
TidsskriftBritish Journal of Haematology
Vol/bind204
Udgave nummer1
Sider (fra-til)329-336
Antal sider8
ISSN0007-1048
DOI
StatusUdgivet - jan. 2024

Fingeraftryk

Dyk ned i forskningsemnerne om 'The Danish national haemoglobinopathy screening programme: Report from 16 years of screening in a low-prevalence, non-endemic region'. Sammen danner de et unikt fingeraftryk.

Citationsformater