What is haemophilia ? Part 2
I have three male kids myself. It’s a joy watching them go through their rather hectic and hearts in mouth play activities daily. They become even more daring as the years role by. No day passes without a fall, separating a fighting pair, consoling the one at the receiving end of a smack from the other and so on and so forth.
But imagine for a moment that each of these happenings I have described actually did result in an injury; one resulting from a seemingly harmless and natural thing such as adventurous male siblings shoving and pushing each other harmlessly. And this injury each time it happens results in abnormally PROLONGED BLEEDING episode way out of proportion to the apparent provocation – indeed, a harmless and almost flimsy one at that.
For some families, male children come along with ‘bloody’ gloomy days of anguish and uncertainty. This is due to a genetic defect they suffer the result of which is the inability of their bodies to manufacture certain soluble FACTORS in blood called CLOTTING factors. These clotting factors are responsible for an otherwise commonly overlooked daily phenomenon like the spontaneous seizure of blood flow when we get a small cut or scratch or say even our bodies inherent ability to stop excessive bleeding resulting from squeezing a pimple on our noses.
We do not bleed out in all of the above instances because we possess these clotting factors among other things, which enable our blood to clot when the need arises.
Two examples of such clotting factors are FACTOR VIII (factor 8) or the ANTI-HAEMOPHILIA FACTOR and FACTOR IX (factor 9) or the CHRISTMAS FACTOR. The absence of these factors is due to the inheritance of a defective gene passed on from carrier mothers to their sons resulting in the disease called HAEMOPHILIA.
There are two main types of Haemophilia – A and B. Haemophilia A results from the lack or absence of factor VIII while Haemophilia B occurs as a result of the absence of factor IX.
A third type called Haemophilia C disease resulting from the absence of another clotting factor called factor XI exist but is extremely rare!
Haemophilia A is by far the commoner comprising about 85 per cent of sufferers while Haemophilia B accounts for about 15 per cent. Globally, it is estimated that the disease occurs in 1 in every 10,000 people. So, for Ghana with an estimated population of about 27, 000, 000 people then potentially, there are about 2,700 people with Haemophilia locally. However, official records from the Ghana Haemophilia Society’s Register indicates a total registered number about 120 children with Haemophilia; about 90 of who are persons leaving with Haemophilia.
THE HISTORY OF THE DISEASE
Haemophilia is mostly spoken of as a ‘European’ disease. No surprise in that as perhaps very little if any was recorded in our medical literature in Ghana.
Haemophilia was recognized, though not named, in ancient times. The Talmud, a collection of Jewish Rabbinical writings from the second century AD, stated that male babies did not have to be circumcised if two brothers had already died from the procedure. The Arab physician Albucasis, who lived in the twelfth century, wrote of a family whose males died of bleeding after minor injuries.
Then, in 1803, a Philadelphia physician named Dr. John Conrad Otto wrote an account of ‘a hemorrhagic disposition existing in certain families’. He recognized that the condition was hereditary and affected males. He traced the disease back through three generations to a woman who had settled near Plymouth, New Hampshire, in 1720.
The word haemophilia first appears in a description of the condition written by Hopff at the University of Zurich in 1828.
IS HAEMOPHILIA REALLY A ROYAL DISEASE?
Haemophilia has often been called The Royal Disease. This is because Queen Victoria, Queen of England from 1837 to 1901, was a carrier. Her eighth child, Leopold, had haemophilia and suffered from frequent haemorrhages (abnormal bleeding). These were reported in the British Medical Journal in 1868. Leopold died of a brain hemorrhage at the age of 31, but not before he had children. His daughter, Alice, was a carrier and her son, Viscount Trematon, also died of a brain hemorrhage in 1928.
A somewhat similar account is told of the Royal family in Russia. Two of Queen Victoria’s daughters, Alice and Beatrice, were also carriers of hemophilia. They passed the disease on to the Spanish, German and Russian Royal Families.
HOW HAEMOPHILIA REVEALS ITSELF
One can only imagine the conclusions that may be drawn here in Ghana where superstition and religion are rife amidst low levels of education, high levels of “miseducation” and scarce resources for adequate healthcare advocacy and delivery. Unexplained and unprovoked prolonged bleeding episodes that may likely result in deaths of male infants when not promptly attended to are best addressed as the result of the work of evil spirits, curses and for the more adventurous, could be due to some vampire tendencies as portrayed in the movies. This is even made more believable as the disorder happens to be genetic and hereditary, hence, seen among particularly males of a particular lineage.
How else can the rural Ghanaian folk without formal classroom education and scientific knowledge explain the prolonged bleeding of possibly all his/her male sons resulting practically from the cut of their umbilical cords at delivery through circumcision and vaccinations to their adult lives? And what’s worse, that their mothers transferred the abnormal gene to these sons? Well, your guess is as good as mine.
There are three main categories of persons with haemophilia: A first group who have the disorder but have quite a substantial quantity of the clotting factor though not as much as the non-sufferer. They only get bleeding episodes following major trauma and major surgeries. This group is described as having MILD disease. The second group are described as having MODERATE disease and consists of a group of sufferers who lack more than say, two-thirds of the usual quantity needed to be normal who tend to bleed following even minor trauma and occasionally spontaneously and unprovoked.
The third category comprise individuals with SEVERE disease who practically have no clotting factor at all and tend to have more life threatening bleeds even without any provocation or with the slightest of provocations such as a pat on the shoulder or biting on a fried meat or bone for instance. For such individuals, even activities of natural daily living such as injections from vaccinations, crawling and tumbling over as regular toddlers, brushing the teeth and natural teeth eruptions become risky and hazardous.
When bleeding is obvious it signals danger and usually urgent attention is sought by care givers. However, in certain cases severe bleeders may bleed into areas that are inconspicuous such as into internal organs, the abdominal cavity and into the brain. These bleeds are usually slow and happen over long periods.
So, typically the bleeds resulting from haemophilia and other clotting factor deficiencies tend to result in bleeding into big joints such as the knee, ankle and elbow joints as well as bleeding into muscles. When these events happen repeatedly over time, the result is a persistently swollen, stiff and painful joint(s) which reduces the quality of life of the affected individual. This long term effect on the joints without appropriate intervention and rehabilitation leads to physical disability of the affected individual.
From the foregoing, it can be deduced that haemophilia can lead to life threatening bleeds resulting in even death and also to long term complications mainly of joints resulting in permanent physical disabilities.
CAN HAEMOPHILIA BE CURED?
The simple answer is no, it cannot be cured but it can be managed. Once born with it, the individual leaves with the disorder for his entire life. The only solution is the replacement of the clotting factors (VIII or IX) periodically in a bid to prevent bleeding episodes from occurring. The main goals of treatment are to ensure deaths do not happen from episodes of bleeding should they happen and that, persons with haemophilia get improved quality of life. The overall aim is therefore to prevent the occurrence of physical disabilities from persistent joint bleeds and deaths from other life threatening bleeds.
In order to achieve this, the World Federation of Haemophilia, WFH, recommends the setting up of Haemophilia Treatment Centers, HTC at several locations (hospitals) across the country with Haemophilia Comprehensive Care Teams staffed with all the key health care providers and parent support groups who can provide focused point of care needs for the person with haemophilia.
For the appropriate and best overall treatment of persons with suspected haemophilia, it is vital that they are diagnosed promptly; classified as either suffering from either Haemophilia A or B; grouped as either mild, moderate or severe; and tested following treatment with clotting factor to determine whether they are out of danger or otherwise. All these are done in a well-resourced laboratory following strict internal and external quality assurance standards.
Another important aspect of care is the provision of continuous parental or care-giver and patient education on prevention of unintentional injuries, home treatment of some of the complications and access to resources available for their use.
DR LAWRENCE OSEI-TUTU
OFFICIAL DOCTOR OF BISA AND SPECIALIST PAEDIATRICIAN AND HEALTH ADVOCATE; KOMFO ANOKYE TEACH HOSP-KATH-GHANA
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