Haemophilia

Haemophilia is an inherited bleeding disorder where the blood doesn't clot properly. It is caused when blood does not have enough clotting factor. A clotting factor factor is a protein in blood that controls bleeding.

Haemophilia A, or Classical Haemophilia, is the most common form, and is caused by having reduced levels of factor VIII (8). Haemophilia B, or Christmas Disease, is caused by having reduced levels of factor IX (9).

In Australia there are more than 2,700 people with haemophilia, who are mostly male. Severe haemophilia in females is very rare, but some females have lower factor levels and bleeding symptoms. Both males and females with less than 40% of the normal level of clotting factor are now recognised as having haemophilia. 

Bleeding is most commonly internal. The low levels of clotting factor produce a wide range of bleeding episodes, usually into the joints or muscles. These bleeding episodes, or “bleeds”, may occur spontaneously, without an obvious cause, or as a result of trauma or injury. Specialised treatment is needed to help blood clot normally and is often infused or injected into a vein. If internal bleeding is not quickly stopped with treatment, it will result in pain and swelling. Over a period of time bleeding into joints and muscles can cause permanent damage such as arthritis, chronic pain and joint damage requiring surgery.


Date last reviewed: March 2016
INHERITANCE

Haemophilia is an inherited condition and occurs in families; however, in 1/3 of cases it appears in families with no previous history of the disorder. The genetic alteration causing haemophilia is passed down from parent to child through generations. Men with haemophilia will pass the altered gene on to their daughters but not their sons. Women who carry the altered gene can pass it on to their sons and daughters. Sons with the gene will have haemophilia. Some women and girls who carry the gene may also experience bleeding problems.

The diagrams below may assist in understanding this. The red males are those with haemophilia; the red and blue females carry the gene - they have X chromosome with the genetic alteration and one unaltered X chromosome.

Haemophilia Genetic Inheritance


Date last reviewed: March 2016
MORE INFORMATION

 

For more information and frequently asked questions – click here - Haemophilia FAQ.

Download the HFA information booklets about haemophilia:

Haemophilia (2013) - [PDF, 1.7MB]

Living with mild haemophilia: a guide (2011)

Click here for other HFA publications on haemophilia.

REFERENCES

Australian Bleeding Disorders Registry (ABDR) Annual Report 2013-2014. Canberra: National Blood Authority, 2015. [PDF, 2.2MB].

National Blood Authority; Australian Haemophilia Centre Directors’ Organisation. Evidence-based clinical practice guidelines for the use of recombinant and plasma-derived FVIII and FIX products. Australian Health Ministers’ Advisory Council, Canberra, June 2006 [PDF, 1.26MB].

World Federation of Hemophilia. Guidelines for the management of hemophilia. 2nd edn. Montreal: WFH, 2012.

 
REVIEW PANEL

This resource was reviewed by Leonie Mudge and Kate Lenthen from Australia/New Zealand Haemophilia Social Workers’ and Counsellors’ Group; Anne Jackson, Penny McCarthy, Megan Walsh and Claire Bell from Australian Haemophilia Nurses’ Group; Ian d’Young, Abi Polus and Wendy Poulsen from Australian and New Zealand Physiotherapy Haemophilia Group; Katherine Rose, Senior Genetic Counsellor, Monash Medical Centre, Victoria; Dr Chris Barnes, Dr Simon Brown, Dr Simon McRae and Dr John Rowell from Australian Haemophilia Centre Directors’ Organisation; and bleeding disorder community representatives from HFA Haemophilia and Women’s Project Consumer Review Groups.


Date last reviewed: March 2016


Important Note: This information was developed by Haemophilia Foundation Australia for education and information purposes only and does not replace advice from a treating health professional. Always see your health care provider for assessment and advice about your individual health before taking action or relying on published information.
This information may be printed or photocopied for educational purposes.