World Haemophilia Day: parents need to be aware of the signs of bleeding disorders, urges expert paediatrician
Haemophilia is an inherited bleeding disorder caused by a genetic defect and affects the body’s ability to control blood clotting. Haemophilia, which is the most prevalent inherited bleeding disorder in the region, is inherited through a mutation in the X chromosome which means it is a condition which mainly affects males and occurs in one in 10,000 male births. However, females can carry the mutation and as a result, experience bleeding problems too, such as prolonged bleeding after a tooth removal, nosebleeds or heavy menstrual periods.
To highlight the often hidden problems women face with bleeding disorders, this year’s theme for World Haemophilia Day, ‘Hear Their Voices’, aims to increase awareness and educate the public that girls and women can be affected by bleeding disorders too. Globally, it is reported that only 20% of people with a bleeding disorder are currently diagnosed and treated.
Dr Kate Khair, who works as a Nurse Consultant at the Haemophilia Centre at GOSH, calls for greater awareness about haemophilia and other less well-known bleeding disorders. “As well as haemophilia, there are about 20 other bleeding disorders that are more difficult to recognise, diagnose and treat and affect males and females equally. Many people have bleeding problems, from bruising to heavy periods and prolonged bleeding after surgery, for many years before they get a diagnosis.”
Signs and symptoms of severe haemophilia commonly presents in infants and toddlers with spontaneous or trauma-related bleeding, such as nosebleeds, joint bleeds and bleeding gums. Mild forms of haemophilia may only have prolonged bleeding after surgery or a trauma, such as after a tooth removal at a dentist.
Once diagnosed, haemophilia is easily treated. Treatment involves regular injections of clotting factor medication.
“In order to enable parents to treat a child at home, at GOSH we usually arrange for the patients to have a venous access device (implantable port) inserted when they start regular treatment, usually before their second birthday. This greatly reduces the number of visits that families have to make to the hospital and helps the family to be in control of the haemophilia. Treatment can fit around the child’s physical activities and to help them lead as normal a life as possible,” Dr Khair explains.
Dr Khair emphasises that anybody with a history of bleeding themselves or within the family should contact their local healthcare professional to discussing testing and treatment. “Only through knowing the diagnosis can appropriate care be given,” Dr Khair concludes.
Advice for parents: how to treat joint and muscle bleeds
When a bleed is happening, the joint or muscle will feel hot, swollen and painful and it might be more difficult to use that part of the body. Remember the word PRICE: these letters stand for important steps in getting the joint or muscle better and will help the affected child.
P is for Protection: Try to take the weight off the joint or muscle. If it is the ankle or knee, try using crutches. Keep the weight off the area for a couple of days.
R is for Rest: This helps the healing process. Try to allow the joint or muscle to rest. As well as keeping the weight off, try not to use the joint or muscle too much.
I is for Ice: Ice can help with pain and swelling. Put an ice pack, wrapped in a tea towel, over the affected area for 20 minutes maximum. This can be repeated every two hours. Do not leave the ice pack on for more than 20 minutes, or repeat it more often than every two hours, or put the ice pack directly on the skin.
C is for Compression: Sometimes an elasticated bandage can help reduce swelling. Make sure to use the right size.
E is for Elevation: This can also help reduce swelling by moving the blood away from the joint or muscle. Keep the affected joint or muscle above the level of the heart. If it is the ankle or knee, try lying on the sofa with the leg on some cushions. If it is the elbow or hand, try resting it along the back of the sofa or put it in a sling.
Medical advice needs to be sought immediately in the event of a head injury.