What Is Haemophilia?

I have three boys myself. It’s a joy watching them go through their rather hectic, hearts-in-mouth play activities daily. They become even more daring as the years roll 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. And this injury, each time it happens, results in an 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 the blood called CLOTTING factors. These clotting factors are responsible for an otherwise commonly overlooked daily phenomenon. These include the spontaneous stopping of blood flow when we get a small cut or scratch or for example, or our bodies ability to inherently stop any excessive bleeding resulting from squeezing a pimple on our noses.

We do not bleed much during the above instances because we possess these essential clotting factors, which among other things 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 8 while Haemophilia B occurs as a result of the absence of factor 9.
A third type called Haemophilia C disease resulting from the absence of another clotting factor called factor 11 exists 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 million people then potentially, there are about 2,700 people with Haemophilia in the country. However, official records from the Ghana Haemophilia Society’s Register indicate a total registered number of only about 120 children with Haemophilia.

THE HISTORY OF THE DISEASE

Haemophilia is mostly spoken of as a ‘European’ disease. This is no surprise in as very little (if any) mention of the disease was recorded in our early 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 12th 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 result in deaths of male infants 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 made even more believable as the disorder happens to be genetic and hereditary and is seen among 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 from the cut of their umbilical cords at delivery or through circumcision and vaccinations? 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 amount 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 is described as having MODERATE disease and consists of a group of sufferers who lack more than say, two-thirds of the usual quantity needed. They 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 fried meat or bone for instance. For such individuals, even activities of daily living such as injections from vaccinations, toddlers crawling and tumbling over, brushing the teeth and normal 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 severely affected people may bleed into areas that are not seen from the outside such as into internal organs, the abdominal cavity and into the brain. These bleeds are usually slow and happen over long periods.

Typically the bleeds resulting from haemophilia and other clotting factor deficiencies tend to occur in bigger 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 that 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.

Haemophilia can therefore cause life-threatening bleeds leading to long-term complications such as permanent physical disabilities, or even to death.

CAN HAEMOPHILIA BE CURED?

The simple answer is no, it cannot be cured but it can be managed. Once born with haemophilia the individual lives 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 occur 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 death 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) across the country with Haemophilia Comprehensive Care Teams consisting of all the key health care providers as well as parent support groups who can provide the needed care for persons 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 education to parents, care-givers and the patient himself on prevention injuries, home treatment of some of the complications and access to resources available for their use.

THE AUTHOR

Dr Lawrence Osei-Tutu

Specialist Paediatrician (General)

Department of Child Health, Komfo Anokye Teaching Hospital, Kumasi.

oseitutlaw@gmail.com, lawrenceoseitutu@yahoo.com

0204618413 or 0208611834