Some people are born with a bleeding disorder (congenital) so that the body's natural response to blood vessel injury and bleeding (haemostasis) does not work properly. Most of these bleeding disorders are hereditary passed on from parents or run in families. An example of this is haemophilia.
What is Haemophilia?
Haemophilia is a rare and serious disease affecting approx. 1 out of 10,000 people around the world. Many people with haemophilia are still undiagnosed or inadequately treated. Even when treated, people may suffer from chronic pain and limited mobility mainly due to bleeds in the joints, and if undertreated or not treated at all, risk dying at a young age.
What are the signs of Haemophilia?
Severe haemophilia usually becomes apparent in the first years of life – often when the child starts to move about independently. Haemorrhages often occur in the joints (particularly the weight bearing joints such as knees and ankles). These joint bleeds can cause severe pain and often permanent damage and disability if not treated properly.
Other mild, moderate or even life-or-limb threatening bleeds can
occur in the muscles, soft tissues, gastrointestinal tract or even the
brain. In addition, trauma, major surgery, tooth extractions or other
minor surgical interventions require medical treatment to manage the
Haemophilia is an inherited (congenital) bleeding disorder that affects males. It is estimated that about 1 in 10,000 people have Haemophilia A or B. Patients with haemophilia A have either no, decreased or defective production of the blood clotting protein, Factor VIII (FVIII). Those with haemophilia B have similar impairments with Factor IX (FIX). Haemophilia is said to be "severe" when the activity of the affected clotting factor (FVIII or FIX) is less than 1% of normal.
Severe haemophilia is
often associated with spontaneous bleeding (i.e. bleeding not caused
by trauma or injury). Haemophilia is referred to as
"moderate" when clotting factor activity is between 1% and
5% of normal, and "mild" when the relevant clotting factor
activity is greater than 5%, but less than normal. Approximately
30-50% of haemophilia patients (depending on the type of
haemophilia) have severe disease and can require treatment for
bleeding several times per month.
Patients with haemophilia A have either no, decreased or defective production of the blood clotting protein, Factor VIII (FVIII). Those with haemophilia B have similar impairments with Factor IX (FIX). Haemophilia is said to be "severe" when the activity of the affected clotting factor (FVIII or FIX) is less than 1% of normal.
Approximately one in every 5000 men are born with haemophilia A. Haemophilia is referred to as an “X-linked recessive condition” recessive condition, meaning that the defective FVIII gene is located on the “female” or “X” chromosome. The daughter of a man with haemophilia will always be a carrier of haemophilia (carries the gene and mostly unaffected, but some carriers may experience minor symptoms of the mild form of haemophilia e.g. heavy periods, may bleed more following major trauma or a major operation). The sons of a woman that carries the defective gene will have a 50% risk of suffering from haemophilia. The same woman's daughters will have a 50% risk of being a carrier of haemophilia.
Haemophilia B is inherited in the same way as haemophilia A, but it
is five times less common. The clinical symptoms are similar to
haemophilia A and only a blood test can show whether a patient has
haemophilia A or B. It is sometimes called Christmas disease
Haemophilia patients with inhibitors
Most patients that have haemophilia A or B are treated by replacing their missing coagulation factor with FVIII or FIX that is either derived from plasma or developed using recombinant technology. One of the most feared complications of the treatment of haemophilia is the development of antibodies - proteins developed by the body which bind and may neutralise the effect of a substance.
Antibodies, also known as inhibitors in haemophilia, to FVIII or FIX
can develop in patients with haemophilia after replacement therapy
with the missing coagulation factor. Inhibitors occur in up to 30% of
haemophilia A and 3-5% of haemophilia B patients. Most of these
antibodies develop during childhood. Clinically, most inhibitors are
detected when patients do not respond to standard replacement therapy
with FVIII or FIX. The management of haemophilia patients with
inhibitors is difficult because standard replacement therapies do not
work. Agents that bypass the coagulation process which is inhibited by
the antibody can be used to treat inhibitor patients.
Sometimes people who have never experienced any bleeding problems themselves or in their families, can develop a condition that causes them to bleed, known as acquired haemophilia. In this disorder, even minor cuts and bruises can require medical treatment.
Acquired haemophilia is a spontaneous development of inhibitors or
antibodies to one’s own FVIII. Acquired haemophilia occurs in about
one person per 1.5 million and both females and males can be affected.
The underlying cause of inhibitor development is usually unknown but
certain conditions may act as “triggers”, e.g. pregnancy, autoimmune
disease, cancer, or the use of certain medications. Patients with
acquired haemophilia may present to the hospital because of a severe
spontaneous bleeding episode. These bleeding episodes are very
difficult to control, and can often not be treated with FVIII. Agents
that bypass the coagulation process which is inhibited by the antibody
can be used to treat patients with acquired haemophilia.
FVII deficiency is a rare
inherited bleeding disorder in which only low levels of factor VII
are present in the blood so that the blood does not clot properly
after blood vessel injury. It occurs in approximately 1 in 500,000
persons and can affect males and females equally. The frequency and
severity of bleeding episodes can be very different between patients
with FVII deficiency. Common sites of bleeding are the nasal cavity
and gums, muscles and the joints. Uncontrolled bleeding during
menstruation, during and after surgery as well as easy bruising also
occur. Treatments rely on replacement therapy using recombinant or
plasma derived factor VII or prothrombin complex concentrates.
For more specific information, please contact your doctor.
Watch Brian's story and hear how he lives with a FXlll deficiency.