Most of us associate haemophilia with blood spurting from minor cuts, but that’s far from accurate. People with haemophilia lack blood-clotting proteins, but small cuts are seldom the problem – they don’t bleed more rapidly than other people, just for far longer.
The danger is not so much bleeding from external injuries as bleeding internally, although any bleeding can be a problem if not stopped, says Bradley Rayner, who heads up projects at the South African Haemophilia Foundation (SAHF), and who himself has severe haemophilia. Bleeding in the knees, ankles and elbows will damage joints over time and cause disability. Internal bleeding can also damage vital organs such as the brain, heart, kidneys, stomach, gut and urinary tract, and be life-threatening.
The good news is that medical developments in the last 20 years have produced treatments which allow those with haemophilia to manage it and live full, near-normal lives. But many cases go undiagnosed and untreated, and the cost can be high.
Causes of haemophilia
Haemophilia is caused by a mutation in the gene responsible for producing the clotting factors in blood. “It’s the result of a faulty gene within the X chromosome, which in most cases is inherited – passed on by mothers to their male children,” says Rayner. “Mothers may themselves show mild signs, if they are ‘symptomatic carriers’, though most are not affected because their second X chromosome is not damaged.”
Women can also suffer from haemophilia if both of their X chromosomes are affected. Very occasionally, “acquired haemophilia” can also occur, when the immune system attacks the body’s blood-clotting factors; this has been linked to pregnancy, autoimmune conditions, cancer or multiple sclerosis, reports Haemophilia News Today.
Haemophilia of any sort is rare – around 1 in 5 000 boys are born with it, according to the SAHF. But it’s important to be on the lookout for signs, and if you notice any, to have them checked out early with a health professional.
Common signs of haemophilia
- Prolonged bleeding in infancy from a severed umbilical cord, use of forceps, circumcision, or during heel-stick blood tests.
- Prolonged bleeding, especially from the mouth, tongue or lip, after injury.
- Excessive bruising under the arms when babies are picked up, or on the forehead when crawling, are tell-tale signs (sometimes even mistaken for physical abuse).
- Swollen, painful, tight and eventually deformed joints.
- Blood in urine (reddish colour) or stools (black).
- Spontaneous bleeding (bleeding for no obvious reason).
Treatments for haemophilia
If you have a family history of what could possibly be haemophilia (relatives who had prolonged bleeding after injury or surgery, unexplained deaths due to trauma), talk to your health professional as part of family planning, says Rayner. “Genetic counselling is also a good option before having a baby.” If you are already pregnant, tests can be done at 9-11 weeks by CVS (chorionic villus sampling), or at 18 weeks or more by foetal blood sampling.
Once diagnosed, treatment will generally entail injections of medication containing the missing clotting factor or factors. Depending on the severity of haemophilia (it can vary from mild to moderate or severe), these may be administered prophylactically weekly, or just planned in advance of a risky situation (such as surgery), or on-demand after an injury, when it should be done as quickly as possible. “Every bleed into the joints causes damage,” Rayner says.
Parents, caregivers and patients themselves can learn how to administer the replacement clotting factor. Sufferers should always carry it with them in case they have a bleed. This takes discipline, but is a small inconvenience to manage what was once frequently a fatal condition, says Rayner. Today it’s one of the most treatable conditions, with gene therapy being trialed around the globe.
For more information, go to www.haemophilia.org.za
Also read: 10 Tips to Support a Loved One With Haemophilia
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