Hemophilia is a genetic disease. This means that there is no cure for the disorder, but only certain hemophilia treatments are available which can be used to manage the symptoms. If left untreated, hemophilia can be fatal.
Hemophilia is a combination of different bleeding disorders. It is a genetic disorder meaning that it is inherited from the parents. It is caused by a mutation of the genes which results in development of the different bleeding disorders. There are two types of hemophilia. Type A and Type B. Both these types cause bleeding. The only difference is in the mutation of the gene, where Type A is a slightly different mutation than type B. The mutation causes a defect in the process of clotting, so blood cannot clot properly if there is a bleed, and if the patient starts bleeding due to any injury, the blood will not stop on its own. Special medications would be needed to stop the bleed. Hence, for hemophilia patients, even ordinary life can be hazardous. They have to avoid every type of cuts, bruises and even scrapes and scratches.
It is a sex-linked disease meaning the gene is present on the sex chromosomes. Thus, men are more likely to be victims of the disease as women have an extra sex chromosome while men only have one. For the gene to cause the disease, the gene has to be present on both the genes of the female sex chromosomes meaning females have less chances of having the disease than males. About one in five thousand males is a hemophilia patient requiring hemophilia treatment.
The disease has many levels of severity. The severity depends on the kind of mutation causing the disease. If the clotting factors have a less than one percent activity, that is a very severe form of the disease. Whereas one to five percent activity means moderate, while more than five percent activity of the clotting factors means mild level of hemophilia. In cases of severe hemophilia, chances of survival are extremely low and regular hemophilia treatments are required to keep the patient alive.
Symptoms of the disease are various and are usually very obvious. Spontaneous bleeds or non-stop bleeding after an injury are classic symptoms of hemophilia. In children, hemophilia is often detected after uncontrolled bleeds occur while dental work. Some less obvious symptoms include the presence of blood in urine or stool. However since blood in excretory matter is also indicative of other symptoms, this is not the main way to diagnose the disease.
A major concern for hemophilia patients is the problem of internal bleeding. This can go undetected for long periods causing even more damage than what an initial bleed might have caused. If an hemophilia patients, for some reason, starts bleeding internally, there is virtually no way to detect the bleed until it bleeds so much that the person starts showing external symptoms, which is usually at a fatal stage. Internal bleeds can cause damage to organs and impair organ functionality. In addition, if the bleed becomes a major bleed, then surgery is required to fix the bleed. This surgery as a hemophilia treatment is extremely dangerous as firstly, the source of the bleed can be hard to find, especially due to all the excess blood present due to the bleeding and secondly, surgery can cause further bleeds to prop up and thus, make the situation worse. Thus, surgery is usually the very last resort as a hemophilia treatment and should not be considered lightly by hemophilia patients. The worst-case scenario would be if the internal bleeding takes place in the brain. Then there is only a slight chance of survival depending on where in the brain the bleed is.
Before progress in medical technology, hemophilia patients were usually doomed to die, often dying from small injuries bleeding endlessly and eventually causing death. However, due to great advances in science, there are now many treatment options available to hemophilia patients. The most common hemophilia treatment is replacement therapy. This involves supplementing the blood clotting factors, whicheither are in low quantity or are in defective conditions. High performance clotting factors are introduced directly into the blood stream of the patient intravenously to maximize the efficiency of the treatment. The high performance clotting factors then do the job that the original clotting factors were supposed to do and help in formation of blood clots when they are required.
One drawback of this treatment is that it is not a permanent solution but is a treatment to diagnose the symptoms. Regular injections of the high performance clotting factors are required. The frequency of the injections depends upon the severity of the disease. The more severe the disease, the greater the amount of high performance clotting factor injections required. Thus, a patient with mild hemophilia might only need an injection in case of a known bleed (for example, a surgery or an injury) but a severe case of hemophilia might require not only daily injections, but injections multiple times a day to prevent any cases of even the slight bleeding.
Another hemophilia treatment is plasma protein pooling. In this treatment method, the proteins required for clotting are obtained from the blood plasma of a normal personal. The proteins are separated and then passed into the blood of the patient with hemophilia. This also provides temporary relief from the problem. However, this is a lengthy procedure and requires that the donor not only be of the same blood type but also should not have any type of disease or disorder himself, which may get transferred with the plasma proteins. Thus, donors are screens cautiously before the procedure takes place.
The most common method of hemophilia treatment is the use of a medication, which contains the factor required for clotting. The medication is usually taken via a nasal inhaler and thus can be used in everyday life by the patients. Injections of the medication are also available. This however, is not very affective in severe cases of hemophilia.