“If I bump myself, I could bleed to death”
Posted on 7 April 2022
With 17 April being World Haemophilia Day, we discover what it’s like to live with this inherited blood disorder, which prevents clotting and causes severe bleeding from the slightest injury.
As a youngster, Clerment Sefofane was known as the “fragile friend”. Diagnosed with haemophilia at age four, he wasn’t supposed to climb trees, jump off walls or play any contact sports. “From primary school onwards, my friends were very protective of me. They knew how serious my condition was – and that if I got hurt, they would have to explain it to my mother,” he recalls. “That said, I never stopped playing soccer. Even though I knew four hours of soccer might mean three months in hospital, I figured it was a fair trade-off.”
Dr Ina-Mari McAlister, a haematologist and specialist physician at Constantiaberg Haematology at Mediclinic Constantiaberg, explains that under normal circumstances, the platelets – blood cells that control bleeding – group together and form a plug (or scab) at the site of an injured blood vessel. Proteins in the blood, called clotting factors, then form a fibrin clot, essentially a gel plug, which holds the platelets in place and allows healing to occur at the site of the injury while preventing blood from escaping the blood vessel.
“As a haemophiliac’s blood lacks certain clotting factors, any cut or injury may lead to excessive bleeding. There’s also the risk of spontaneous bleeding which can be either internal or external,” she says.
Dr McAlister adds that bleeding episodes may also cause damage to joints, muscles and organs, leading to disability in the long term. “Repeated bleeding into a joint breaks down the joint lining and causes damage.”
There are 13 clotting factors that work together to clot blood, and three different types of haemophilia are caused by a deficiency in a particular one:
- Haemophilia A (Factor VIII deficiency) is the most common. It affects around one in 10 000 newborn males.
- Haemophilia B (Factor IX deficiency)
- Haemophilia C (Factor XI deficiency).
Although it’s an incurable disease, it can be managed. For Clerment, this requires regular self-administered injections of Factor VIII concentrate. “In some cases, people with haemophilia might require orthopaedic surgery for damaged joints,” says Dr McAlister. “If possible, all drugs that cause bleeding, including aspirin and nonsteroidal anti-inflammatories should be avoided.”
These days, Clerment owns a small printing business and lives with his wife in Bloemfontein. But because haemophilia is a hereditary disease, he is concerned about passing on the gene should they have children. Haemophilia is caused by an inherited change to a gene and mainly affects males. If a man with haemophilia has a son with an unaffected woman, there’s no chance the boy will get haemophilia. This is because he always inherits his X chromosome from his mother, who in this case does not have the altered gene. However, any daughters the man has will become carriers of the mutated haemophilia gene and may pass it on to their children.
“I fear having a daughter because there’s a 90% chance she will be a haemophilia carrier,” he says. “This means she might be mocked and called names, like my mother was. I also worry that my daughter(s) will blame me if they carry the condition. There’s still a great stigma to this rare blood disorder and people who don’t understand can be suspicious and cruel.”
Constantiaberg Haemotology works as a multidisciplinary team of three specialist haematologists; experienced nurses; pharmacists; a laboratory technologist; psychologist/play therapist; psychiatrist; physiotherapists; dietician, and input from the microbiology department. The team deals with all aspects of clinical haematology, including haemophilia, giving patients the convenience of treatment under one roof in one department. The clinic has facilities to treat patients from anywhere in South Africa or elsewhere in Africa.