Rapid developments in genomic technologies make it possible to screen infants for an increasing number of conditions.1
Genetic diagnosis of haemophilia and other bleeding disorders has also become more accessible.2 Haemophilia is, therefore, a potential candidate condition for expanded newborn screening in the general population who have no known family history of the condition.1
With the increasing use of whole genome sequencing techniques for screening purposes, the introduction of newborn screening for conditions such as haemophilia could mark the advent of a new era in disease management.1
Neonatal screening could, in fact, help identify patients before they need replacement therapy and, in the context of haemophilia A, this may help reduce the risk of developing Factor VIII inhibitors. Indeed, ensuring that the first exposure to Factor VIII occurs at the start of prophylactic treatment, rather than for bleeding treatment, may reduce the risk of developing inhibitors, particularly in patients with mutations in the F8 gene who are at low risk.2
In addition, since the most severe type of bleeding for those with haemophilia (intracranial haemorrhage) is most likely to occur during the neonatal period, with about half of infants having no family history of haemorrhagic disease, neonatal screening for the condition could protect the health of both the child and mother.1
- Boardman FK, Hale R, Young PJ. Newborn screening for haemophilia: The views of families and adults living with haemophilia in the UK. Haemophilia. 2019;25:276–282. https://doi.org/10.1111/hae.13706
- Paul C. Moorehead, Considering the benefits of newborn screening for haemophilia, Haemophilia. 2019;00:1–2, DOI: 10.1111/hae.13776.