Haemophilia

Haemophilia is a rare blood disorder where the blood cannot clot normally because it doesn't have enough blood-clotting proteins/factors. This means a person with haemophilia can potentially bleed for a longer time after a major cut or injury than a person whose blood is able to clot properly.

A severe form of the condition can cause bleeding inside your body, mainly in your knees, ankles and elbows. Internal bleeding can damage your organs and tissues and be life-threatening.

Types of Haemophilia

Haemophilia A – lacks the clotting factor VIII.

Haemophilia B – has a deficiency of factor IX.

Both occur primarily in males as it is a sex-linked or X-linked disorder.

  • the son of a female carrier has a 50% chance of having the disorder.
  • the daughter having a 50% chance of being a carrier.
  • the daughters of men with haemophilia are carriers, however the sons are normal.

It is possible for female carriers to have mild symptoms and show some signs of bleeding. Acquired haemophilia has been reported due to the development of autoantibodies toward factor IX.

Symptoms

Haemophilia A and B have similar clinical features and symptoms vary depending on level of factor deficiency:

  • Bruising easily.
  • Less than 1% - frequent spontaneous bleeding from early life.
  • 1-5% - severe bleeding following injury and occasional spontaneous episodes.
  • Excessive bleeding into the joints.
  • Spontaneous joint bleeding in up to 80% of patients with haemophilia.
  • Above 5% - mild disease associated with bleeding only after injury or surgery.
  • Recurrent bleeding into 'target joints' can progressively lead to pain and restriction of movement and potentially irreversible structural damage.
  • Mortality associated with haemophilia A is common among individuals with cancer and heart disease.

Treatment

The main treatment for Haemophilia A and B is replacing or increasing the clotting factors VIII and IX. This can be achieved using either donated blood or a modified clotting factor made up of cells from two or more sets of DNA (a chimera) which is produced in a laboratory.

Facts about Haemophilia

The following statistics is the reported findings from the Australian Bleeding Disorders Registry and demonstrates minor increases over the period.

2011–2012

  • 2,316 patients with haemophilia A; 724 patients with severe haemophilia A
  • 544 patients with haemophilia B; 102 patients with severe haemophilia B

2019–2020

  • 2,449 patients with haemophilia A; 706 patients with severe haemophilia A
  • 585 patients with haemophilia B; 112 patients with severe haemophilia B

2020-2021

  • 2529 patients with haemophilia A; 725 patients with severe haemophilia A
  • 601 patients with haemophilia B; 111 patients with severe haemophilia B

2021-2022

  • 2621 patients with haemophilia A; 742 patients with severe haemophilia A
  • 6221 patients with haemophilia B; 113 patients with severe haemophilia B

The Federation of Hemophilia Annual Global Survey 1999-2018 presents large increases of cases universally over the last 2 decades.

  • Haemophilia A – 53,864 (1999); 173,711 (2018); 185,318 (2021); 208,957 (2022)
  • Haemophilia B – 11,591 (1999); 34,289 (2018); 37,998 (2021); 43,203 (2022)

The latest data shows the prevalence of Haemophilia B among males is approx. 15% of all cases (1 in 40,000); and for Haemophilia A it is about 85% (1 in 5,000).

References

 

Published:

Updated:

Author: Gina Rodgers

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