Haemophilia is usually an inherited bleeding disorder in which blood does not clot properly. It is caused by a mutation, or difference from normal, problem in one of the genes needed to make clotting factors, which are proteins the body uses to form a blood clot.
These genes are located on the X chromosome. This can lead to spontaneous bleeding (bleeding that occurs for no known reason) and bleeding after injuries or surgery.
The most common types of haemophilia are inherited and are present from birth. In rare cases, a person can develop haemophilia later in life. This is known as acquired haemophilia.
Most acquired haemophilia cases occur in middle-aged or elderly people, or young women who have recently given birth or are in the later stages of pregnancy.
Other conditions associated with acquired haemophilia include autoimmune conditions, cancer, multiple sclerosis and drug reactions. This condition often resolves with appropriate treatment.
Blood contains many proteins called clotting factors that can help to stop bleeding. People with haemophilia A or B have low levels of either factor VIII (8) or factor IX (9), respectively.
The severity of haemophilia is determined by the amount of factor in the blood. The lower the amount of the factor, the more likely that bleeding will occur, which can lead to serious health problems.
What to look out for
Bleeding within or into joints that can lead to chronic joint disease. This can present with swelling and pain or tightness in the joints, which often affects the knees, elbows and ankles.
Some patients may present with bleeding into the skin (large and deep bruising) or muscle and soft tissue, causing a build-up of blood in the area, called a haematoma. This is regardless of the magnitude or severity of trauma to the affected area.
Infants may have bleeding in the head after difficult delivery. Unfortunately, some of the head bleeding may be concealed or in the brain, which can cause long-term problems such as seizures and paralysis. Some mothers have reported observing their babies with localised unusual bleeding after having shots such as vaccinations.
A number of patients report bleeding of the mouth and gums, and bleeding that is hard to stop after losing a tooth. Frequent and hard-to-stop nosebleeds have also been reported, as well as blood in urine or stools. Uncontrolled bleeding after circumcision is also suspicious.
Death can occur if the bleeding cannot be stopped or if it occurs in a vital organ such as the brain. Reports indicate internal bleeding can damage organs and tissues and can be life-threatening.
Brain bleed caution
Rare as it may be, a simple bump on the head can cause bleeding into the brain for some people who have severe haemophilia, with serious complications such as the following:
- Painful, prolonged headache;
- Repeated vomiting;
- Sleepiness or lethargy;
- Double vision;
- Sudden weakness or clumsiness; and
- Convulsions or seizures.
Clear the confusion
“I get nosebleeds, especially during winter.”
Haemophilia is not seasonal. You may need to consult to confirm the cause as there are other causes for nosebleeds such as rhinitis, recreational drugs or upper respiratory infections.
“I get severe menstruation. Could that be haemophilia?”
Women with haemophilia experience less bleeding symptoms than men, and are mainly referred to as carriers.
It has been reported that most females with a gene for haemophilia inherit only one gene with a mutation for haemophilia on one X chromosome and they inherit a normal gene on their other X chromosome, so they have some protection against having severe bleeding problems.
However, in women with haemophilia, the lack of sufficient clotting factors means the blood vessels lining the uterus cannot be sealed off efficiently once menstrual shedding begins. Their common symptom of the bleeding disorder may be heavy menstrual bleeding.
Who is at risk
The primary risk is being male. Research has reported inherited haemophilia occurs in about one of every 5,000 male births. A study that used data collected on patients receiving care in US federally funded haemophilia treatment centres from 2012 to 2018 showed that about 33,000 males in the US are living with the disorder.
Most women with the defective gene are carriers who have no signs or symptoms of haemophilia. However, some carriers can have bleeding symptoms if their clotting factors are moderately decreased.
The age factor is associated with children and adults over 40. The chances of passing the gene to their offspring are increased if there is a history of disorder in the family.
Other risks may be from autoimmune diseases that make the immune system attack the clotting factors or interactions from certain medication, such as blood thinners, that interfere with clotting.
Haemophilia A is about three to four times as common as haemophilia B, and about half of those affected have the severe form. Haemophilia affects people from all race and ethnic groups.
Treatment
The standard way to treat haemophilia A and B is to replace the missing blood clotting factor so the blood can clot properly. One way to do this is by infusing (injecting into a vein) commercially prepared clotting factor concentrates.
People with haemophilia can learn how to perform the infusions themselves so they can stop bleeding episodes. Regular infusions (called prophylaxis) can prevent most bleeding episodes.
For haemophilia A, another treatment method is a non-factor product that stands in for, or replaces, the function of the missing factor VIII. This treatment is given by injection under the skin and can also be done by people with haemophilia themselves.
Gene therapy is also an option for people with haemophilia A and B. Gene therapy is done by injecting copies of the gene that help the body make more clotting factor to prevent bleeding.
- Dr Bayeni is a medical doctor and host of DR B Talks, a weekly health conversation platform focused on empowering communities through accessible health education.
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