Free Research Paper On Genetic Defects

HEMOPHILIA

Hemophilia is a bleeding disorder in which the blood fails to stop after an episode of cut or bleeding in any form. Such is the seriousness of the disease that even a simple cut or injury can be fatal to the patient. It is also called as Royal disease because the disease used to occur in the generations of the Royal Family of England. It is a disease that runs in the family. But in most of the cases, only males are affected by the disease. Females are the carriers who transfer the affected genes and the males are the one who develop the disease. Very rarely it is seen that a female is having hemophilia. Even if a female child has the disease, she won’t be surviving post puberty because even the menstrual blood flow that she will be having every month will not stop. Thus eventually proving to be fatal and thus killing the patient. The disease being genetic will run in the family generations after generations. Let us have a look at the genetic expression of the disease. The disease is also called as X-linked disease. It is a recessive factor, which means that the presence of the affected gene singly won’t affect the patient as its effect will be masked by the other normal chromosome. Or in other words we can say that XH X will be a carrier of the disease, but won’t have manifestations of the disease in them because the other X gene is masking the effect of XH. Only those who have a pair of XH or XHXH or XH Y will have the disease. The latter combination, that is, XHY will being a male will develop the disease because the other chromosome Y is unable to mask the effects of affected XH.
Let us take an example of a couple in which the male is XY and the female is a carrier of the disease, XHX. Here the female is not diseased; she is a mere carrier of the defective chromosome. Now the children this couple will bear will have genetic combinations of XY, XHY, XX or XHX. Thus we can say that in case a male child is born, there will be 50% chances of him becoming hemophilic. Similarly in case of a female child, 50% chances are there that the girl will be a carrier. Now in case the couple in question has an affected male partner that is XHY and a carrier female, that is XHX. In this case the children of this couple will have a genetic composition of XHX, XHXH, XHY and XHY, this shows that a son of this couple will always be hemophilic, in addition to that, even a daughter of this pair can be hemophilic. But such cases are very rare, because the males who have the disease do not reach the marriageable age normally.
The symptoms of the disease are blood flow and easy bruising; technically it occurs due to defective clotting mechanism of the blood. The blood which clots immediately after an injury or cut, fails to coagulate in these patients. Thus the bleeding continues for a prolonged period of time. A number of tests have been devised to diagnose the test and for prognostic purpose. They are basically tests which determine the clotting time of the blood. The delay in the clotting time is a diagnostic feature of the disease. Efforts are made to fasten the clotting. Our body has certain clotting factors; the levels of those factors are also ascertained to diagnose the disease.
The disease is incurable in itself. But management is possible. Firstly, the patient needs to be very careful regarding each and every step he takes. From the very childhood he needs to be taught that he can’t engage himself in any kind of sports that can lead to even the slightest of the injury. Every child faces lots of minor injuries as a part of growing up, but the case is different for a hemophilic child. He cannot afford to get injured. He needs lot of care and emotional support to keep him away from any such physical sport. Medical management will include frequent blood transfusions. These children need to undergo blood transfusions every 3 months. The transfused blood has higher number of clotting factors than their own. Thus transfusion is helpful to these children (Nlm.nih.gov., 2015). Although recurrent blood transfusions do have their own repercussions, but they are manageable.
According the National Hemophilia foundation, the incidence of hemophilia is 1 in every 5000 live male births. A rough estimation says that currently 20000 people in the US are hemophilic. Although the worldwide data is not available but roughly it is something nearby 400,000 people. Out of these, almost 75% of the people do not receive a proper treatment. The age of diagnosis in USA is about 2 years (Hemophilia.org, 2015).
Researches are going on to find out more techniques and procedures to control the progress of the disease. Lot has been done; efforts are still made to improve the quality of life of such patients. Basically treatments will be aimed at increasing the clotting factors in the blood.
A very interesting initiative has been taken by the Queen’s Animal Defence by the name of Dogs and Hemophilia Research at Queen’s. Here the dogs are used as subject of research, they are purpose-bred for hemophilia and some are used as control groups. They are treated with the proposed methods and observations are recorded accordingly. Thus these dogs are doing lot of good to the human society by being a part of such a research work (Queen’s Animal Defence, 2014).
Finally we can say that though the disease is actually a grave one, but the patient’s should not lose hope. Firstly, premarital counseling should be undertaken to ensure that the child of the would be couple cannot develop hemophilia at all, not just hemophilia, these tests will reduce the chances of occurrence of many more genetic diseases. Another factor that should be bore in mind is that marriages between close family relatives should be avoided as this will increase the chances of disease, especially the ones among the maternal cousins. In some cultures these marriages are acceptable, but they should first undergo the tests to ensure a safer future generation. Taking this step in itself would reduce the occurrence of the disease to a greater extent. Otherwise also, the scientists and researchers are doing their best to ensure a safer and healthier life for the affected people. Hopefully very soon the day will come when success of these researches will find a permanent cure to the disease; any one walking into the doctor’s clinic with the disease will walk out free of the disease.

References

Hemophilia.org,. (2015). Fast Facts | National Hemophilia Foundation. Retrieved 3 March 2015, from https://www.hemophilia.org/About-Us/Fast-Facts
Nlm.nih.gov,. (2015). Hemophilia: MedlinePlus. Retrieved 3 March 2015, from http://www.nlm.nih.gov/medlineplus/hemophilia.html#cat5
Queen's Animal Defence,. (2014). Dogs and Hemophilia Research at Queen's. Retrieved 3 March 2015, from http://queensanimaldefence.org/2014/10/27/dogs-and-hemophilia-research-at-queens/