Discover more about the science behind different types of blood
disorders, from haemophilia to rare clotting factor deficiencies and
women living with haemophilia.
Haemophilia is a rare genetic blood disorder, in which the blood does
not clot as it should. It can also lead to sponteneous internal and
external bleeding. People with haemophilia are missing or do not have
enough clotting factor, a protein in the blood that helps to control
bleeding and clotting.
Haemophilia is divided into two different types, A and B, both of
which predominantly affect men. The most common type of haemophilia
is 'haemophilia A', and affects around one in every 10,000 males.
Haemophilia A is caused by people not having enough clotting factor
VIII (factor eight). Haemophilia B is less common than haemophilia A,
affecting around one in 50,000 males. A person with haemophilia B does
not have enough factor IX (factor nine).
Depending on how much of the clotting factor a person has, will
determine whether their condition is classed as mild,
moderate or severe. For example:
- Severe haemophilia means that factor levels are less than
1%
- Moderate haemophilia means that factor levels are
1–5%
- Mild haemophilia means that factor levels are 6–30%
For people with severe haemophilia, these incredibly low levels of
factor (<1%) mean that they will bleed following injury, but what
can be most difficult is that people will have frequent spontaneous
bleeding episodes, often inside their body.
Due to the genetics of haemophilia, it occurs mostly in men;
however, women can be carriers and also experience symptoms.
We all have two chromosomes which we inherit from our parents.
Females inherit two X chromosomes, one from their mother and one from
their father (XX). Males inherit an X chromosome from their mother and
a Y chromosome from their father (XY). The gene for haemophilia is
located only on the X chromosome. So, if a son inherits an X
chromosome carrying haemophilia from his mother, he will have
haemophilia. A father with haemophilia cannot pass it on to his sons,
but will pass the gene to his daughters. Because females have two X
chromosomes, even if they inherit a haemophilia gene, they have
another healthy X chromosome to take over, instead they will be
a carrier. Carriers have around half the normal amount of factor VIII
and factor IX and can also suffer symptoms.
Haemophilia is well documented in males; however, it is often not
recognised in women, who may also be living with symptoms. Recent
research has suggested that some carriers have increased and longer
bleeding during menstruation compared with non-carriers. These female
carriers may suffer a number of symptoms including:
- Bruising more easily
- Prolonged bleeding after
surgery
- Serious bleeding after trauma and longer time to
heal
- More likely to require an iron supplement or to undergo
hysterectomy and are more likely to have bleeding following
childbirth.
Along with the physical symptoms, there may be a psychological
and mental health impact from being a haemophilia carrier -
discover how Olivia lives with being not only a carer for her son
Harry, but also being a haemophilia carrier.
Acquired haemophilia is a rare condition that affects both men and
women in adult life. It is caused by an auto-antibody, produced by the
immune system, which inactivates factor VIII proteins (factor VIII is
a clotting factor protein in the blood that helps to control bleeding
and clotting).
Acquired haemophilia can lead to significant bleeding; however, the
bleeding pattern seen is very different from the more common
haemophilia. Bleeding into the joints is much less common, the person
will bleed into the skin and soft tissues. Discover how Linda was
diagnosed and what it is like to be living with acquired haemophilia.
Clotting factor deficiencies are rare disorders in which one of
several clotting factors is missing or not working properly. These
rare diseases a still being learned about within the scientific
community as they are diagnosed so rarely. Find out more about
living with rare clotting factor deficiencies.