A Look At People Living With Haemophilia: The Very Few Who Are Suffering In “Bloody” Silence

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 natural interactions such as adventurous male siblings shoving and pushing each other harmlessly. However each time this happens, imagine that it results in abnormally PROLONGED BLEEDING episodes 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 or deficiency of factor IX.
A third type called Haemophilia C disease resulting from the absence of another clotting factor called factor XI exists but is extremely rare!

Haemophilia A is by far the commonest 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 our estimated population of about 29, 000, 000 people then potentially, there are about 2,900 persons with Haemophilia locally. However, official records from the Ghana Haemophilia Society’s Register indicates a total registered number of about 300 children with Haemophilia.

THE HISTORY OF THE DISEASE

 

Haemophilia is mostly spoken of as an ‘European’ disease. 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.

 

(Abnormal bleeding into the brain – brain haemorrhage – is one of the most feared and deadliest consequences of haemophilia)

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

Due to its peculiar genetic nature resulting in haemophilia being a disease affecting males (almost exclusively), it leaves a lot of room for speculation among people who have very little knowledge of the disease. Especially, where females (daughters who become mothers of affected sons) only carry the abnormal gene which cause the disease in their sons but they themselves do not express the disease.

Here in Ghana, the situation is more pronounced as very little is known about the disease generally. Unexplained and unprovoked prolonged bleeding episodes that may likely result in deaths of male infants when not promptly attended to are at best attributed to work of evil spirits, or cursed women who are killing their own sons (sadly) and for the more adventurous, 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 while sparing females (although there are a few women with haemophilia and other bleeding disorders I must say).

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 and even 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 abnormally prolonged 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 friendly 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 and loss become hazardous and sometimes deadly.

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 concealed or inconspicuous such as into internal organs, the abdominal cavity and into the brain. These bleeds are usually slow and happen over long periods only coming to attention when they have resulted in a coma or even death.

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 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 that disabilities and 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 Haemophilia A or B; grouped as either mild, moderate or severe; and tested following regular 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. The best approach is to prevent bleeds by the regular infusion of the particular clotting factor that is lacking – in what the experts describe as prophylactic factor replacement therapy.

Another important aspect of care is the provision of continuous parental or care-giver (including school teachers and healthcare providers) and patient education on prevention of unintentional injuries, home treatment of some of the complications and providing access to resources available for their use.

WORLD HAEMOPHILIA DAY 2018 (APRIL 2017): SHARING KNOWLEDGE MAKES US STRONGER

The global theme adopted by the World Federation of Haemophilia and its members for this year’s world haemophilia day celebrations (the 28th anniversary) is: “Sharing Knowledge makes us Stronger”. That knowledge is power cannot be over emphasized. The scientific community and healthcare professionals in Ghana continue to learn more about this rather rare disease and will keep on educating the public. More advocacy through a well-funded and resourced Ghana Haemophilia Society is needed.

Our work is cut out for us as we are yet to identify the other potential 2,700 persons living with or dieing from haemophilia in Ghana. It is our collective responsibility as Ghanaians to ensure that no child or adult with haemophilia is left behind by sharing knowledge in the field and improving the quality of care we provide.

Author: Dr Lawrence Osei-Tutu

Specialist Paediatrician (Paediatric Haematology and Oncology)

Host, Staying Alive on Ultimate 106.9FM

12 April 2018

 

By: Ghana/Ultimatefmonline.com/106.9FM