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

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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 - 2024

Bibliografisk note

Funding Information:
This project was carried out within the framework of European Reference Network on Rare Haematological Diseases (ERN-EuroBloodNet)—Project ID No. 10108571. ERN-EuroBloodNet is partly co-funded by the European Union within the framework of the Fourth EU Health Programme.

Funding Information:
This work was supported by an unrestricted grant from the Novo Nordisk Foundation.

Publisher Copyright:
© 2023 The Authors. British Journal of Haematology published by British Society for Haematology and John Wiley & Sons Ltd.

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