Hemophilia

Hemophilia is sometimes known as Hemophilia Disease, Hemophilia Disorder or even Hemophilia Blood Disorder and is in essence a genetic condition that results in the inability for one’s blood to properly clot.  Although there is research conducted on hemophilia, it is a genetic disorder and as such there is no complete cure of this disorder, but rather the means to treat the symptoms and outcomes of episodes of bleeding or bruising.  The purpose of this article is to provide a starting point for those who are looking to become better informed about this particular genetic disorder.  As always, should you be such an individual, try and get as many reputable sources of information as you possibly can.  Ultimately, should you require immediate medical attention or advice, your first source for such information should be a licensed, trained and certified health care professional such as your family physician.  Over the course of this article we will be focussing on a brief and general overview of this genetic disorder including a description of what it is, how it is caused, what some of the complications due to hemophilia are and the different ways in which individuals who have hemophilia are able to manage this disease.

In general, hemophilia is specifically an inability of the blood to properly clot.  Clotting, for those who are unaware, is when blood changes from a liquid to a solid, which halts the bleeding process allowing for healing to begin.  There are a number of different kinds of hemophilia that very in severity based on the individual case.  However, for the most part, hemophilia is a manageable disease that generally does not stop individuals form living a reasonable life.

What are the symptoms of hemophilia?

As mentioned in the prior paragraph, there are a number of different types of hemophilia that are experienced at varying severity based on the individual’s experience of the disease; however, there are some general warning signs that an individual who has hemophilia could expect to be a precursor of what is known as spontaneous bleeding, which is characterised by bleeding that does not stop as it would in an individual who does not suffer from hemophilia.  These symptoms, according the Mayo Clinic, may include, large and/or deep bruising, joint pain and potentially swelling due to internal bleeding, other bleeding or bruising, blood present in the urine or blood present in the stool, bleeding after surgery or a cut or an injury that continues for a prolonged period of time, nosebleeds, and a tightness in the joints.  There are other symptoms of hemophilia that are characteristic of an emergency.  Should you have hemophilia and experience any of the following symptoms, it is recommended that you seek emergency medical treatment.  These symptoms include a pain in the neck, the experience of double vision, extreme lethargy or fatigue, vomiting, a bad headache, as well as bleeding from an injury or a sudden pain and swelling of large joints such as the elbows, hips, knees, etc.

Most individuals are already aware that they have hemophilia and as such it is not often that symptoms are used to determine the presence of the disease in the first place.  The only case where this is not the use of symptomatic criteria is in young children who have as of yet not been diagnosed with hemophilia.  Given that hemophilia is a genetic disorder, parents in all likelihood may be aware if they are carrying the gene for hemophilia or not.  As one might expect, the best way to determine if a young child has hemophilia is simply to be aware of the presence of bleeding or bruising as the child becomes more active.  As a result, the child may exhibit some of the symptoms of hemophilia and as such parents who have a child who they believe has hemophilia should do their best to become educated on the subject and be sure to consult their family physician.

What causes hemophilia?

Hemophilia is caused by a defect in the blood that causes a disorder of the clotting process.  In order to better understand this process, it is important to note that there are three types of proteins that play some form of role in the clotting of blood.  The first protein is known as a procoagulant protein and it helps to form the clots.  There are then two other types of proteins tat do the opposite: anticoagulant proteins which, as the name suggests, help to prevent blood clots; fibrinolytic proteins that aid in the process of dissolving clots once they have formed.  The blood particle that contains the proteins involved in clotting is known as a platelet.  On the whole blood clotting is a relatively complex process that in the case of hemophilia can go wrong in three ways that are known as hemophilia A, hemophilia B and hemophilia C in order of most to least common forms of hemophilia present in the general population.  Hemophilia A and B is almost exclusively found in men as a result of the genetic defect being found on the X chromosome, of which women have two.  The final type of hemophilia, hemophilia C, can occur in either sex and can be passed on by either parent.

How to treat hemophilia

There are a number of forms of treatment for hemophilia that obviously will vary based on the type and severity of hemophilia that the individual to be treated in question has.  However, for those with a mild form of the disease the physician of the patient may decided to inject a hormone called DDAVP or desmopressin to aid in blood clotting.  More severe forms of the disease will either need infusions of blood plasma to prevent bleeding, which will require treatment in a health care facility.

On a day to day basis, one of the best ways to prevent bleeding is simply to get a lot of exercise.  However, as one might expect, contact sports such as football should be avoided.  The importance of exercise is that it can help to build up muscle mass around joints, preventing them from receiving injuries.  In addition, it is good practice to avoid medications that may adversely affect the conditions due to hemophilia.  For a comprehensive list of which medications to avoid and for other information regarding hemophilia, it is recommended that you consult with a trained, certified and licensed health care professional such as your family physician.