Haemophilia A in infants

Haemophilia is an inherited, serious bleeding disorder where a person’s blood does not clot properly, leading to uncontrolled bleeding, which can occur spontaneously or after trauma.

Haemophilia occurs when someone lacks or doesn’t have enough clotting factors – proteins that work together to form blood clots and help stop bleeding.

Haemophilia A, where people lack clotting factor VIII, is the most common form – affecting 900,000 people worldwide. 1,2

The diagnosis of haemophilia is usually expected before birth if:3

There is no family history in at least 1/3 of people newly diagnosed with haemophilia.3 Depending on the severity of the haemophilia, people get diagnosed at different times in their lives:3

The most common symptoms and indicators of haemophilia to look out for in infants are:

Other common ways for infants to get diagnosed is through a genetic or blood test analysing complete blood count and clotting factor levels, as well as checking bleeding time.8

Haemophilia can have a large impact on quality of life in those affected and can be distressing for their caregivers.

This is especially true in infants, with two thirds of caregivers reporting that haemophilia has impacted their life, with many reporting lost days from work and emotional stress, because of:9,10

Early diagnosis and prophylactic treatment from birth helps to reduce the risk of bleeding into the brain (which can be life threatening) and may also prevent bleeds that can cause disability and long-term damage to joints and muscles.1

Early treatment in infants is recommended to prevent long-term complications.1 If haemophilia is left untreated throughout life, there is a risk of severe bleeding externally or internally. These bleeds can present a significant health concern as they can often lead to:

References

1. Srivastava, A, et al. WFH Guidelines for the Management of Hemophilia, 3rd edition. Haemophilia. 2020: 26 (Suppl 6):1‐158. 3.

2.  Iorio A, et al. Establishing the Prevalence and Prevalence at Birth of Hemophilia in Males. Ann Intern Med. 2019;171(8):540-546.

3. The Haemophilia Society. Diagnosing Haemophilia [internet; cited 2022 Dec].   Available from:

4. Centers for Disease Control and Prevention. Hemophilia Diagnosis [Internet; cited 2022 Dec]. Available from:

5. Konkle BA, et al. GeneReviews®. In: Adam MP, et al., editors. Hemophilia A. University of Washington, Seattle; 1993-2022. 

6. Salen, P. and Babiker HM. StatPearls. Haemophilia A. Treasure Island (FL); 2022.  

7.  Changing Haemophilia. Signs, symptoms and diagnosis [Internet, cited 2022 Dec]. Available from: 

8. Hopkins medicine. Hemophilia in children. [Internet, cited 2022 Dec].  Available from:

9. Von Mackensen, S., et al. The impact of psychosocial determinants on caregivers’ burden of children with haemophilia (results of the BBC study).  Haemophilia. 2019;25(3): 424-432.

10. Halimeh, S., et al. How Caring for Toddlers and Young Children with Severe Haemophilia Impacts on Caregiver's Burden. Blood. 2019;134(Supplement_1):  3461-3461.

11. Wiley RE., et al. From the voices of people with haemophilia A and their caregivers: Challenges with current treatment, their impact on quality of life and desired improvements in future therapies. Haemophilia. 2019;25(3): 433–440.  

12. Kids Health. What is Hemophilia [Internet, cited 2022 Dec]. Available from:

13. Berntorp, E., et al. Haemophilia. Nat Rev Dis Primers. 2021;7(1):45.