Hemophilia A

Hemophilia A – General Information

Hemophilia A is a sort of blood clotting disorder caused by a factor VIII gene mutation that leads to a deficiency in this Factor VIII. Inheritance is recessive; male patients are more affected while females are the mere carriers of the gene. Only one in 5,000 male patients is known to suffer from this disease. The first people who described this disease were the Babylonian Jews (about 1700 years ago). Patients with this disorder (Hemophilia A) present a mutation of the gene Hema that is on the X chromosome. Women have two chromosomes X while men have one X and one Y chromosome. The Factor VIII is synthesized in the liver, and is one of the most important factors that are involved in blood coagulation; its loss alone provokes Hemophilia A even if other coagulation factors are normally present. People who were born with hemophilia have an abnormally small amount of a protein that is needed for a normal clotting of the blood. The protein is generally called the clotting factor. We know some types of clotting factors, and they work aside with the platelets to help the blood clot. Platelets are a type of cells that is produced in the mass of bone marrow. They play the biggest role in the process of blood clotting. There are two types of Hemophilia: Hemophilia A and Hemophilia B.

Hemophilia A – Symptoms

The main symptoms of Hemophilia A are an excessive bleeding and an easy bruising. The bleeding depends on the type and the severity of the hemophilia. Children may not have symptoms until they experience excessive bleeding from a certain procedure that usually triggers a mild loss of blood. Men with severe Hemophilia A bleed heavily after a circumcision. Bleeding can be external or internal. Some signs of excessive external bleeding depend on: bleeding in the mouth from a cut at the dentist or when you loose a tooth, abnormal nosebleeds that occur without a reason. In most cases, after the bleeding stopped it comes again after a short time. Signs for internal bleeding include the presence of blood in the urine (from kidneys or a bladder) and blood from bleeding in the intestines / stomach in the stool. Specific symptoms like bleeding in elbows, knees, and so on is a common internal bleeding for people with hemophilia. This occurs without an obvious injury. This bleeding causes tightness in that spot even if the patient does not feel pain or a visible sign of bleeding. However, movement of that spot and the areas surrounding it is temporarily lost and pain can appear. Internal bleeding that occurs in the brain can be a serious complication of hemophilia that can interfere after a simple knock on the head or a serious collapse. Some signs of bleeding in the brain include: long and lasting painful headaches or some neck pain, vomiting, changes in your behavior or beginning to feel sleepy, convulsions and seizures, weakness of the arms or legs and confused vision. Changes in the mood and tiredness can be a strong sign of the illness.

Hemophilia A – Treatment

Treatment techniques for Hemophilia A have progressed rapidly in the last century. Contamination with HIV of most hemophiliacs in 1980s put in development the Factor VIII resources to therapy and a purified antibody and recombinant was discovered. Some major advice is that patients should avoid aspirin, as it causes bleeding. Medication must be given orally as injections can provoke hematomas. For Mild Hemophilia A there is a treatment that can involve slow injection of hormone called Desmopressin by your personal medical care provider. This medical product is supposed to stimulate a slightly larger release of your clotting factor (in order to stop abnormal bleeding).

Desmopressin can be given as a nasal medication. For patients with moderate Hemophilia A or hemophilia B the bleeding should stop only with the infusion of this clotting factor. It may be derived from the donated human blood or from the engineered products called recombinant clotting factors. You will need a lot of infusions in order to stop the internal bleeding that is serious. Your personal medical care could also suggest a few preventive infusions of this clotting factor to avoid the serious bleeding episodes before they start.

Chronic deformities of joint, caused by some recurrent bleeding inside the joint may be dealt with by specialist orthopedic. The procedure is in fact a replacement of joint. Transfusions may lead to the risk of getting the virus HIV or hepatitis. Patients should make sure that they receive a Hepatitis B vaccine before they start their therapy for hemophilia, as the immunization to this type of disorder is very important.

All the factor treatments can be infused or injected intravenously into a vein for patients with Hemophilia A. Patients will receive treatment at a hemophilia treatment center, their health care provider's office or an emergency room. They will be taught to administer the factor at home. All the devices and called ports can be surgically introduced under the skin in the patient’s chest an area where it is easier to inject the product. To treat your bleeding episodes, you should try to administer the factor as soon as possible. If you are in a delay, you can put ice to enable the shrink of size of the leaking blood vessels, as in this way you can limit the amount of bleeding into your joints or tissues and prevent one small bleed from becoming a large bleed.

Researchers are currently working in a way to introduce a copy of the factor VIII or maybe factor IX gene into the blood cells of patients with Hemophilia A. This is meant to raise the clotting factor levels and to decrease the severity and the frequency of bleeding episodes and in this situation will prevent the complications of bleeding. So far, all these approaches have not led to a long-term state of increase in factor level, but hopes are that this therapy technique will evolve in the foreseeable future. Ask your physician for further information.