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



  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.
  2. Paul C. Moorehead, Considering the benefits of newborn screening for haemophilia, Haemophilia. 2019;00:1–2, DOI: 10.1111/hae.13776.
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Learn more about the meaning of the words you read on this page and learn about the entire glossary on hemophilia.

A protein belonging to the clotting factor category, a group of enzymes involved in the blood-clotting process.

It is encoded by a gene on the long arm of the X chromosome.

Factor VIII is also known as anti-haemophilic factor (AHF).

Product containing a high concentration of freeze-dried factor VIII, used for replacement therapy in the treatment of haemophilia A.

A ereditary genetic illness, characterised by a deficiency of clotting factor VIII, that exposes the individual to a greater risk of both internal and external bleeds.

Haemophilia A is more common in males, whereas females tend to be healthy carriers of the condition.

The typical symptoms of the condition include haemarthroses (joint bleeds) and haematomas (muscle bleeds).

Antibodies produced by the immune system of patients with haemophilia, following an infusion of replacement factor VIII.

The inhibitors recognise the infused factor VIII and bind with it in a specific manner, thereby neutralising its effect.

Condition that occurs when factor VIII activity is between 1% and 5%.

Condition that occurs when factor VIII activity is between 1% and 5%.

Therapy for the treatment of haemophilia A, consisting in the intravenous administration of the lacking factor VIII, thereby restoring a correct blood-clotting process and preventing bleeds.

Replacement therapy can be administered in accordance with two treatment regimens: as on-demand or prophylactic therapy.

Condition that occurs when factor VIII activity is <1%.