Is it an invisible illness?
Just because you do not see it, does not mean that it is not happening. This is the story behind haemophilia, a bleeding disorder. But first, we begin with an interesting association of this bleeding disorder as the ‘Royal Disease’
In the Late 19th Century, a bleeding disorder was running among the ruling class in Great Britain. Queen Victoria carried the Haemophilia type B gene and she passed it to three of her children; Prince Leopold, Princess Alice and Princess Beatrice. As a young playful boy Prince Leopold easily got bruised but his wounds did not heal as fast compared to his peers. His bleeds were spontaneous and the condition was not well understood. Unfortunately when Prince Leopold was 31, he died from excessive bleeding in his brain as a result of a fall. The gene was also later passed on to the Spanish and Russian Royal family where his sisters, Princess’s Beatrice and Alice got married.
Prince Leopold’s death was not in vain. It accelerated research on the inheritance aspect of haemophilia and also advanced research on better treatment and management of haemophilia. By the turn of the second half of the 20th Century, more doctors understood haemophilia better and the bleeds could be controlled by injectable blood proteins.
Coming closer home, haematologist Dr Kibet Peter Shikuku says that haemophilia is shrouded with myths which hinder families from seeking specialised medical treatment. Dr Kibet defines haemophilia as a blood condition where the blood fails to clot normally due to a deficiency or abnormality of one of the clotting proteins. Whereas most of the bleeds take place in the joints like the elbows and knees, sporadic nosebleeds are also common. Bleeds can be life-threatening if it happens in the head, chest and the abdomen.
Haemophilia is either categorized as mild, moderate or severe. “The severity of hemophilia 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,” said Dr Kibet who is also a lecturer at haematology and blood transfusion unit at the University of Nairobi. Haemophilia is believed to be present in one out of every 10,000 people globally. Kenya has about 4,300 people diagnosed with various types of haemophilia but this number is significantly lower due to poor awareness.
The genes that cause this condition are located on the “X” chromosome hence if a man inherits from his mother the altered or changed ‘X’, he will have haemophilia. If a woman inherits a copy of the altered gene from either of her parents, she is said to “carry” the haemophilia gene. There is a one in two chance of passing the altered gene to each child. You can also acquire haemophilia
Types of Haemophilia
There are three types of Haemophilia
- Type A- also known as classic hemophilia. Affects 80 %
- Type B-also known as Christmas disease. Affects 10 %
- Type C
Other bleeding disorders include Von Willebrand Disease, platelet disorders like Glanzmann’s disease, Bernard Soullier among others. If you have haemophilia, it is prudent that you manage bleeds to prevent bleeding that can lead to complications that later present as disabilities. Excess bleeding can be fatal. They can be prevented through regular exercise, avoiding certain pain medications, practicing good dental hygiene and empowering the patients to identify bleeds and take precautionary measures.
Treatment and management
Treatment for haemophilia aims at preventing the bleeds and muscle skeletal damage especially to the joints when bleeding occurs. Currently, there are two health facilities in Kenya that have the capacity to diagnose and effectively manage the condition; Kenyatta National Hospital and Moi Teaching and Referral Hospital. This leaves more persons undiagnosed and well treated due to this capacity. Other health facilities that can only diagnose haemophilia include Coast General Hospital, Murang’a Level 5 hospital and Kisii referral hospital.
Dr Kibet observes that there needs to be more concerted efforts to ensure the products of treatment are available at no cost.” We rely on donations from the World Federation of Haemophilia. These donations are short-lived yet we need to find a way to ensure we manufacture our own blood products to take care of the local need,” Dr Kibet said.
This will encourage us to develop a drug formulary; a list of prescription medications that are preferred for a haemophilia treatment plan. “This means that we will not need to beg or buy the factor concentrate to prevent, treat or manage bleeds, “Dr Kibet added. Factor concentrate are treatment products derived from blood and they improve blood clotting and used by persons with haemophilia to stop or prevent a bleeding episode.
Factor concentrate can be manufactured from human plasma. They are purified and treated to destroy any potential viruses or diseases, then freeze-dried to a powder and stored in sterile vials ready for use by the haemophilia patient or health worker. Sadly some patients reject the factor treatment product, treating it as a foreign body and hence attacks it with an inhibitor which means that the treatment cannot work. This patient needs special treatment until their body stops making inhibitors. Sadly Kenya has no capacity to provide this kind of specialised medication.
“The haemophilia treatment we have today is need-based. This is not best approach to care. We should also target to prevent bleeds by making our own blood products. To do this, we need to acquire the machines and observe safe blood practices,” Dr Kibet said. Dr Kibet noted that today Kenya has lots of plasma that’s going to waste yet it is a critical resource that can be used for haemophilia management. “We need this to convert to utility,” Dr Kibet said adding that countries like Egypt have been successful to make their own blood products.
To prevent and manage bleeds, persons with haemophilia are advised to use the RICE protocol
- Rest: Do not move the injured area.
- Ice: Apply ice or cold compress
- Compress by wrapping plastic bandage around injured area
- Elevate injured area to reduce swelling
Poor management of haemophilia can lead to disability. “If the bleeds are in joints and no treatment is given, the joints get deformed and so most of the patients have deformities that would have been avoided,” Dr Kibet said.
He acknowledges that more needs to be done to strengthen the multi sectoral approach in treating and managing haemophilia treatment and management. “We need more specialised training for the clinicians to manage complications better beyond the basic training. This way, we will reduce
the disabilities that arise due to complications of the knees, ankles, and elbows that are deformed due to poor or delayed management of the blood condition,” he said.
The Kenya Haemophilia Association
The Kenya Haemophilia Association was founded in 1979 and is one of the oldest in Kenya. Initially, the idea of its formation was as a medical association to sensitize clinicians and reach more patients. However over the years, there was a deeper understanding that haemophilia is no longer a royal disease and hence it is more common today.
It was the brainchild of three health experts;
- The late Prof Edward Kasili
- Prof Walter Mwanda
- Prof Grace Kitonyi
In 2014, KHA got a national outlook and became a hybrid association where it admitted patients, carers and health specialists who treat and manage haemophilia. The retention of KHA as national member organisation enabled it to oversee all issues affecting haemophilia diagnosis, treatment and management. KHA has trained over 400 doctors in last four years enables cascade care of patients with haemophilia. Novo Nordisk Haemophilia Foundation is driving change in haemophilia and is supporting the volunteers working with the Kenya Haemophilia Association and assisting with the renovations of treatment centres in Kenya.
Psychosocial support
Dr Kibet noted that given that haemophilia is a chronic disease, there is need for psychosocial support for the patients and their families, friends and colleagues. “We need to inculcate a culture that having haemophilia does not mean that you cannot lead a normal life. However, achieving a productive lifestyle means that every person in the social circles understands that haemophilia can be limiting however it should not prevent the patients from carrying out their professional and social obligations,” Dr Kibet concluded.
N/B Kenya Haemophilia Association will have a fundraising dinner on 17th April to support the treatment and management of haemophilia in Kenya.
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