What is haemophilia? If we break this word which is the name of this medical condition into its basic components, we would get from ‘haem’ blood or bleed, and from ‘philia’ to like or love. Thus, haemophilia literally means to love to bleed. In real life however, those persons who suffer with this condition would rather not bleed.
The human body continues to fascinate me on a daily basis as I reflect on the various conditions I come across in my reading or interaction with patients. In the event that an individual is cut whether intentionally as in a surgical procedure (and not the subject of a violent attack), or accidentally, he or she will bleed. The extent of the bleeding would depend on the severity of the wound and the integrity of the individual’s innate ability to stop bleeding.
Once an individual starts to bleed, the goal of the body is to stop blood loss and so a cascade of proteins is brought into play and, in conjunction with platelets, the end point is the production of a clot to temper the bleeding. In the clotting cascade, one set of proteins is activated by another set in the chain and so if there is a deficiency in any of the proteins, there will be a consequent deficiency in the ability of the body to stop the bleeding. Therein lies the problem with haemophilia.
How does one become a haemophiliac? In the vast majority of cases the disease is carried by the mother on her X chromosome which is transferred to her son. Since males only have one X chromosome, the disease is seen in the male. Less often, there is a genetic mutation (abnormal change) which causes the disease and in even more rare cases, the disease is seen in females.
For the purpose of this article we will focus on Haemophilia A and B. The main difference between these two is the factor (protein) which is deficient. In Haemophila A, factor VIII is deficient and in Haemophilia B, factor IX is deficient. The disease is further classified according to severity into mild, moderate and severe and this is based on the activity of the affected factor.
A person who has mild haemophilia would tend to bleed only after significant injury such as surgery or trauma when compared with those with the moderate disease who would bleed more frequently after less important injuries. Those with the severe form of the disease bleed after innocuous injuries and can often have spontaneous bleeds. These patients frequently bleed into joints and muscles.
The disease is diagnosed based on the history of abnormal prolonged bleeding episodes, laboratory investigations and a family history, although not always present, is helpful. Since the deficiency of a factor is the underlying problem in this disease, then replacement of that factor is the basis of the treatment for the disease. In earlier times, different blood products were used to treat the disease but that carried the risk of transmission of blood borne diseases.
As a matter of fact, one of the sad eras in medicine would be the transmission of HIV and hepatitis to haemophilia sufferers prior to modern-day testing. Thankfully, with the advancement of infectious disease testing, the risk of transmission of these diseases and others have been significantly reduced although not one hundred per cent. There is also now the availability of the factor concentrates so that blood products are not used as a first line treatment in most modern centres.
Apart from the possibility of contracting an infection and a possible life-threatening bleed, there are other complications in the life of the patient with haemophilia. As mentioned before, they are at risk for painful bleeds into muscle and joints and recurrent bleeds into these areas lead to destruction of those structures and over time disability can develop.
In the treatment of the disease some persons develop an inhibitor or a protein that blocks the injected factor concentrate from working adequately. As such, the administration of the factor no longer prevents or stops the bleeding. Cases such as these would be treated by using different regimes and medications to try to reduce the level of the inhibitor.
On the brighter side, the availability of the factor concentrates has over time reduced the number of visits to the emergency room and absenteeism both from work and school. This is because family members or patients themselves are able to inject the medication at home and treat for as long as necessary as determined by their doctors. There is also an expected reduction in the rates of destruction of joints and disability as the factor can be administered as soon as a bleed is suspected, or in the case of severe patients, prophylactic care can be given.
Over the years, scientists have developed different medications and are working on different methods of administration because the factor is given by injection into the veins.
(Rénee Boyce is a medical doctor, a wife, a mother and a Christian, who is committed to Barbados’ development. Email:reneestboyce@gmail.com)
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