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hemophilia: do you know the signs?
4 minute read
hemophilia is usually diagnosed at birth and almost exclusively in men, although women can develop the disorder in rare instances. getty
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hemophilia is a rare, genetic disorder in which blood does not properly clot because the proteins responsible for this function are missing or malfunctioning. without this ability, internal and external bleeding can be difficult to control: people may bleed spontaneously, or without stopping.
there are three types of the disorder, according to the canadian hemophilia society, hemophilia a, b and c. all three versions are characterized by insufficient levels of clotting factor viii or ix. the overall severity of the condition depends on the how much of each factor a patient has in their blood. hemophilia a is by far the most common of the three, making up an estimated 85 per cent of cases.
although external wounds are generally not a concern for hemophiliacs, internal bleeding (or hemorrhaging) inside the body, especially in the knees, ankles and elbows, present a far greater risk. if bleeding occurs in a vital organ, particularly the brain, it can quickly threaten a patient’s life.
hemophilia is usually diagnosed at birth and almost exclusively in men, although women can develop the disorder in rare instances. it can also be acquired later in life, in equally rare instances when the immune system inadvertently attacks the body’s clotting factors.
without proper treatment, a hemophilia diagnosis can be crippling and life threatening. with treatment, however, almost all patients can go on to lead normal and active lives.
symptoms of hemophilia
signs of hemophilia can vary depending on the type of disorder and the amount of clotting factor a patient has in their blood. if clotting is mildly impaired, according to the mayo clinic, a patient may only bleed after surgery or trauma. if it is severe, however, they may bleed for almost no reason. symptoms of spontaneous bleeding can include:
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- unexplained bleeding from cuts, injuries or dental work
- nosebleeds with no known cause
- multiple large or deep bruises
- bleeding from vaccinations
- painful or swollen joints
- blood in urine or stool
- unexplained irritability (in infants)
bleeding into the brain is a serious complication for hemophiliacs to consider because it can occur from nothing more than a simple bump on the head. although rare, these events can produce symptoms including:
- a painful headache
- sleepiness, fatigue or lethargy
- double vision
- frequent vomiting
- weakness or clumsiness
- seizures or convulsions
you should seek immediate medical attention for anyone who appears to be experiencing bleeding in the brain, bleeding that will not stop or swollen joints that are hot to the touch and painful to bend.
diagnosing hemophilia
most cases of severe hemophilia are detected before a child reaches their first birthday but milder forms may not become apparent until adulthood — usually after a medical procedure has led to excessive bleeding. at this point, clotting-factor blood tests can reveal the presence and severity of the disorder. people with a family history of hemophilia may want to consider genetic testing to see if they are a carrier for the condition and potentially at risk of passing it on to future offspring.
treating hemophilia
although the type and severity of the disorder dictates the medical response, the main treatment, according to healthline, involves infused treatments to replace a patient’s clotting factor. these treatments, used in cases of hemophilia a and b, can be synthetic or made from human plasma. they can be used to treat a bleeding event in progress or prevent future episodes and may be required on an ongoing basis for some patients.
other treatments include:
- aminocaproic acid – prevents the breakdown of blood clots. may be prescribed for use prior to medical procedures
- non-factor replacement therapies – synthetic proteins are injected into the skin to replace clotting factors.
- physical therapy – helps facilitate recovery from damaged joints
- pain management – drugs may be prescribed to alleviate pain
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patients with hemophilia c, the rarest and generally most mild form of the disorder, may only need to use clot-preserving medication prior to surgery.
preventing hemophilia
because hemophilia is a genetic condition, there is currently no way to prevent it.
prevalence of hemophilia
according to a 2019 study, the worldwide prevalence of hemophilia is three times larger than previously believed, affecting 1,125,000 men around the world (as opposed to 400,000). by the end of 2018, according to cbc, there were 3,006 canadians living with hemophilia a and 665 living with hemophilia b, the two most common forms of the disorder. it costs between $300 and $400-million a year to care for these patients.
support for hemophilia
for more information about hemophilia and other blood disorders, including news on the latest research and therapies, visit the canadian hemophilia society.
dave yasvinski is a writer with healthing.ca
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