Understanding haemophilia, the royal disease

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By Sharon Kavhu

Windhoek - In some parts of Africa, haemophilia is portrayed as a result of sorcery or a curse.

Due to lack of knowledge about the condition, there are myths that haemophilia is a curse provoked by an abomination, sin and adultery among several other social deviances.

Haemophilia, which is also known as the bleeding disorder, is defined by Mayo Clinic as a rare disorder where one’s blood does not clot normally.

The abnormality is caused by lack of sufficient blood-clotting proteins, which are also known as clotting factors.

The bleeding disorder knows no tribe, race, age or gender; it can affect anyone. A research by the National Health Service (UK) found that the condition is caused by a mutated gene either inherited in the bloodline or the immediate family (parents).

Prevalence of haemophilia is not well-known, however, the National Haemopholia Foundation in the US estimates that there are more than 400,000 sufferers across the globe. Of these sufferers, 75% have no access to treatment.

For one to understand the bleeding disorder, there is a need to comprehend the blood-clotting factors and the role they play in making blood clot.

According to the World Federation of Haemophilia (WFH), clotting factors are proteins in the blood that control bleeding.

Biologically, when a blood vessel is injured, the walls of the blood vessel contract to limit the flow of blood to the damaged area where clotting factors work hand in hand to stop bleeding.

WFH says the process of clotting also sees the small blood cells - platelets ‑ sticking to the site of the injury and spreading along the surface of the blood vessel to stop the bleeding.

“At the same time, chemical signals are released from small sacs inside the platelets that attracts each other cells to the area and make them clump together to form a platelet plug. On the surface of these activated platelets, many different clotting factors work together in a series of complex chemical reactions to form a fibrin clot, which acts like a mesh to stop the bleeding,” as advised by WFH.

However, this normal process does not happen to people with clotting factor deficiency. Instead, they bleed longer than they should. Haemophilic patients require additional clotting factors in their blood to stop the bleeding.

The clotting factors are administered to a haemophilic patient depending on the aspects which are lacking in the blood.

For example, if one has a deficiency of factor VIII, IX and VII, he or she will be given factor VIII, IX and VII, respectively as treatment to control the bleeding.

A health expert based in Windhoek, Namibia, who preferred anonymity, told The Southern Times that haemophilia has two main forms namely -haemophilia A (factor VIII deficiency) and haemophilia B (factor IX deficiency).

He said the bleeding disorder can either be mild or severe, adding that the severe condition may cause the patient to have internal bleeding and causing swollen joints, especially in the knees and ankles.

“When the condition is mild, the patient normally requires to take additional factors to stop external bleeding after a wound or surgery. The random internal bleeding that affects severe haemophilic people may require the patient to frequently get additional blood factors,” he said.

During treatment for the blood deficiencies, there is a high risk of patients contracting viruses and infections, which are passed through the blood. Such infections and virus include: HIV, AIDS, malaria, hepatitis B, hepatitis C and viral haemorrhagic fevers.

He said haemophilic people are encouraged to exercise regularly because exercising reduces stress, anxiety, depression, and the frequency and severity of joint bleeds.

They are also encouraged to eat and live healthily.

The expert said, “When haemophilic people are overweight, they place additional stress on the joints, particularly the knees and ankles, leaving them increasingly susceptible to bleeds.”

Treatment options for haemophilia include: factor concentrates, Prothrombin Complex Concentrate (PCC), Fresh Frozen Plasm (FFP), Cryoprecipitate and Desmopressin, among others.

Of the available treatment options, the highly recommended are factor concentrates and PCC because they are treated to eliminate viruses such as HIV and hepatitis B and C.

“Factor concentrates are made in the laboratory and not from human plasma and this means that they do not carry the risk of infectious diseases. However, this treatment is only available for factors I, VII, VIII, XL, AND XIII,” the expert said.

Similarly, PCC is suitable for individual deficiency factor II and X as well as inherited combined deficiency of Vitamin K-dependent clotting factors, even though some of its products maybe found without all the four factors.

FFP is the portion of blood that contains all the clotting factors, as well as other blood proteins.  The plasma is used to treat rare bleeding when the concentrates of the specific factor that is missing are not available.

Unfortunately, this treatment does not go under viral inactivation, this means it has high risk of carrying infectious diseases. It also has risk of causing circulatory overload, which can stress the heart.

WFH suggests that due to the low clotting factor in FFP, the treatment should be administered in a large volume over several hours so that it achieves the adequate rise in the factor level and this can trigger circulation overload.

An alternative treatment, Cryoprecipitate is made from human plasma and contains factor VIII, as well as other protein needed in the blood.   Information from the WFH shows that Cryoprecipitate does not go under viral inactivation, as such it is only encouraged to be used when factor concentrates is not available.

Cryoprecipitate has a high concentration than FFP, as such less volume is needed.

According to WFH, Desmopressin is a synthetic hormone that raises factor VIII in patients with combined factor VIII and V deficiency; since it is manmade, it has no risk of infectious diseases transmission.

Other options such as Antifibrinolytic drugs and fibrin clue, are used to hold a clot in place in certain parts of the body such as the mouth of the bladder and uterus.  The drugs are mostly useful in dental work but not effective in internal bleeding or surgery.

Haemophilia has been called a “royal disease” merely because it was passed from Queen Victoria, who became Queen of England in 1837, to the ruling families of Russia, Spain, and Germany.

Queen Victoria’s gene was caused by spontaneous mutation.

Of all her children, her son Leopold had haemophilia, while her two daughters- Alice and Beatrice- were carriers.

Beatrice’s daughter married into the Spanish royal family, and is rumoured to have passed on the gene to the male heir of the Spanish throne.

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