Have you seen someone who injured himself and have difficult time stopping the blood from oozing out of the wound? If yes, then that person might have a hemophilia. What is hemophilia? And how is the condition managed?
Hemophilia, also spelled as hemophilia, is a hereditary genetic disorder wherein the body’s ability to control the blood clotting mechanism or coagulation is impaired. There are two types of hemophilia and these are Hemophilia A and hemophilia B. Hemophilia A is the most common form of the disorder wherein there is a deficiency of the clotting factor VIII while hemophilia B is the less common one where in there is a deficiency in the clotting factor IX.
What is the Cause of Hemophilia?
Hemophilia is a recessive sex-linked X chromosome disorder that is more likely to occur in males than females. The reason for this is that male has only one X chromosome, unlike with females which have two X chromosomes. With that, the defective X gene would surely manifest in any male who carries it. For females, the chance of having hemophilia is low but still possible. The chance of a female to have two defective X gene is very low so females are almost exclusively asymptomatic carriers of the disorder. Females with hemophilia usually inherit the defective gene from either father or mother. It is actually very rare for a female to have hemophilia. The incidence of hemophilia A is about 1 in every 5,000-10,000 male births while hemophilia B occurs at about 1 in every 20,000 -34,000 male births.
Signs and Symptoms of Hemophilia
In hemophilia, the blood plasma clotting factor is deficient thus a normal blood clotting process could not be carried out. If the blood vessel is injured, a temporary scab is formed but breaks down because of the missing coagulation factor that promotes fibrin formation. Fibrin is actually needed to maintain the blood clot. Hemophiliacs do not bleed aggressively if to compare with those that do not have the condition. Hemophili acs only bleed for a much longer time. For those with severe hemophilia, a simple cut in the skin could cause severe blood loss. A bleeding in the brain is the most fatal one that can trash down the life of hemophiliacs.
The hallmark of hemophilia is bleeding. Prolonged bleeding and re-bleeding are the diagnostic symptoms of hemophilia. Internal bleeding is common for those with severe hemophilia and even to some with moderate hemophilia. The most common type of internal bleed is found in joints where blood enters the spaces in the joints. This can cause permanent joint damage and disfigurement if not dealt with immediately.
In children with hemophilia, this condition is unnoticed until the child has his circumcision where continuous bleeding is noticed. The first symptoms that are first noticed in children are bruises and hematoma formation especially during the time when they are first learning how to walk. For those with very mild hemophilia, the first sign of this condition can be noticed during the first dental procedure or surgery.
Treatment of Hemophilia
There is no cure for hemophilia but frequent infusions of the deficient clotting factor, such as factor VIII for hemophilia A or factor IX for hemophilia B, can help lengthen the life of sufferers. The clotting factors that are replaced are actually isolated from human blood serum. There are some sufferers who develop antibodies against the replacement factors. With that, non human replacement can help deal with this problem.
Complications with Hemophilia
Below are some of the complications that can either be the result of the disease process or the treatment itself:
– Joint damage from blood pooling in the joints (hemarthrosis). Disfigurement and even destruction of the joint can occur.
– Deep internal bleeding
– Transfusion transmitted infection from frequent infusion of blood clotting factors
– Adverse reactions from the infused clotting factors
– Intracranial hemorrhage. This is a medical emergency which creates increased pressure in the skull. This can lead to death if not prevented.