Why test for haemophilia in women and girls?

How many females with haemophilia are missing?

It is estimated that there are at least 4,380 women and girls in Australia who carry the gene for haemophilia – and of those, at least 1095 have haemophilia.

However, the ABDR (Australian Bleeding Disorders Registry) only records 696 females overall.(1)

For every 1 male with haemophilia:

• There are at least 1.6 females with the ‘haemophilia’ gene alteration (‘haemophilia carriers’).(2)

• 1 in 4 of these females have bleeding symptoms, usually mild haemophilia.(3)

REFERENCES

1. Australian Bleeding Disorders Registry (ABDR) Annual Report 2023-24. Canberra: National Blood Authority, 2024
2. Kasper C. How many carriers are there? Haemophilia 2010;16(5):842
3. Hermans C, Kulkarni R. Women with bleeding disorders. Haemophilia. 2018;24(Suppl. 6):29-36.