March is Bleeding Disorders Awareness Month
by David R
Over the years, there has been a significant amount of attention paid to diseases such as cancer, HIV, and heart disease. While these diseases are undoubtedly important and great strides have been made in all of these, March is bleeding disorders awareness month. While these disorders may not receive the same amount of attention of of the diseases mentioned earlier, they are no less important and impact numerous people everywhere. Therefore, it is important that, particularly during bleeding disorder awareness month, that everyone takes a few minutes to pay attention to bleeding disorders. These have the potential to be deadly; however, great strides have been made in the research of these disorders as well.
What is a Bleeding Disorder?
The human body is a delicate network of pipes made up of arteries, veins, and capillaries. The body relies on the delicate network of these vessels to transport blood from the heart to the rest of the body and then back to the heart again. The blood plays an important role by supplying the countless cells of the body with the oxygen and nutrients that they need to stay alive. When the body’s plumbing system is damaged, the great pressure on the inside of the vessels forces blood outside of the body, which anyone who has cut themselves before has seen. To stop the bleeding, there are important clotting factors that are triggered that help to plug the hole and stop the bleeding. If there are deficiencies in any of these clotting factors, a bleeding disorder could result. A mutation in any of the clotting factors can cause the cascade to back up, inhibiting the clotting process and allowing the bleeding to continue. These bleeding disorders are more common than many people might realize.
How Common are Bleeding Disorders?
For those who don’t have a bleeding disorder and haven’t come into contact with an individual with a bleeding disorder, these disorders impact many people across the world. Take, for example, hemophilia. There area two types of hemophilia, A and B, which are deficiences in clotting factors. The disorders are X-Linked, meaning that the mutation takes place on the X chromosome. For males, who have an X and a Y chromosome, it only requires one mutation on the X chromosome to cause either type of hemophilia. For females, who have two X chromosomes, they require a mutation on both X chromosomes to contract hemophilia. Because of this, hemophilia is significantly more common in males than in females. For hemophilia A, the disease occurs in around 1 in every 5,000 live male births. For hemophilia B, the disease occurs in 1 in around every 20,000 live male births. Currently, close to half a million people have these forms of hemophilia worldwide. Unfortunately, many of these people still don’t have adequate treatment for these types of hemophilia, for which is there is no cure. Furthermore, for treatment, these individuals require blood products as a form of treatment. Unfortunately, many of these people became infected with AIDS via blood transfusions decades ago before there was adequate screening of blood donations. This means that many people with hemophilia have to deal with both their bleeding disorder and an immunodeficiency.
Signs of Hemophilia
The two types of hemophilia are different. Hemophilia A is a deficiency in Factor VIII, one of the clotting factors in the cascade that leads to the formation of clots. Hemophilia B, slightly less common, is a deficiency in Factor IX, a separate but also important clotting factor. When these two factors are deficient, the body is unable to stop the bleeding as effectively as it normally would. There are several signs and symptoms that people with hemophilia should look for. A bleeding episode could be the first sign of hemophilia and this important recognition is vital so that people can receive the proper diagnosis and treatment which could save their life. Some of the symptoms include:
Dental: People with hemophilia may notice that their gums bleed when they brush their teeth. While this happens to everyone sometimes, heavy bleeding is concerning.
Nosebleeds: Nosebleeds aren’t unusual; however, most people do not have nosebleeds that go on for hours. This is a sign of something more serious.
Stool: Bleeding can also occur inside of the body as well. Those who notice blood in their stool should be investigated for a bleeding disorder.
Deep Tissue Bleeding: Those with hemophilia may also notice easy bruising in their joints. This type of deep tissue bleeding can help set hemophilia apart from other bleeding disorders, such as Von Willebrand’s Disease.
Von Willebrand’s Disease
Von Willebrand’s Disease is another common bleeding disorder and, unlike hemophilia, it is autosomal dominant. This means that the mutation occurs on a non-XY chromosome. Furthermore, only one copy of the mutation is required for the person to have the disease. Therefore, men and women are impacted equally. Von Willebrand’s disease is cuased by a missing or a deficient clotting factors, Von Willebrand’s Factor (vWF). This mutation leads to similar bleeding episodes to those of hemophilia. Some of the signs and symptoms of Von WIllebrand’s disease includes the gum bleeding and skin bleeding that is seen with hemophilia; however, people with Von Willebrand’s Disease often do not have the deep tissue bleeding or deep bruising that impacts those who have hemophilia. This distinction is important so that people can receive the appropriate treatment.
Treatment of Bleeding Disorders
Depending on the type of bleeding disorder that people have, the treatment is different. Those who have hemophilia need to have their missing or deficient factor replaced. Those with hemophilia A need to have factor VIII replaced while people with hemophilia B need to have factor IX replaced. For individuals with Von Willebrand’s Disease, they often receive treatment with a medication called Desmopressin or DDAVP so that the vWF that is contained within their cells can be released more easily. Clearly, these treatments are different and there are tests that can help to differentiate these diseases from one another. This allows medical professionals to make the proper diagnosis.
What can be Done
There are many different bleeding disorders than the most common ways discussed above. Other disorders include deficiences of other factors, such as Factor XI. Ultimately, the only way that strides in the treatment of these diseases is going to be made is if research is done. While treatments are great, perhaps one day, cures can be found. In the meantime, it is important for anyone who notices any of the alarm symptoms discussed above to seek treatment from a medical professional. If someone starts bleeding and doesn’t stop, it is possible to lose a significant amount of blood from the smallest of cuts.
This is only a brief overview of some of the most common bleeding disorders. There are many different bleeding disorders and some of them have no treatment at all. This is why bleeding disorder awareness month is important. It is vital that these diseases receive the same type of attention and funding that numerous other diseases receive so that the people with these deadly diseases are not overlooked. Perhaps, with some increased notoriety, bleeding disorders will see an increase in funding and effective treatments and cures can be found for these problems.