Hemophilia is a rare genetic bleeding disorder in which a person has certain genetic factors that prevent their blood from properly clotting. Blood-clotting factors are needed to help stop bleeding after a cut or injury and to prevent spontaneous bleeding.
The hemophilia gene can contain many different errors, leading to different degrees of abnormality in the ability of clotting. People who have hemophilia are at risk for abnormal bleeding throughout the body, especially in the joints and muscles, which may lead to debilitating problems.
Hemophilia occurs almost exclusively in men because it is a recessive gene. The disease can be passed from a mother, who is a carrier of the genetic defect, to her son. Rarely, women can have hemophilia. This occurs only if she inherits a defective gene from both her mother and her father, though it is statistically less common.
Symptoms of hemophilia are usually first noticed during infancy or childhood. However, some people who have milder forms of hemophilia that may not show symptoms until later in life.
Hemophilia Signs After Birth
- Bleeding into the muscle, resulting in a deep bruise after receiving a routine vitamin K shot.
- Prolonged bleeding after a boy is circumcised.
- In rare cases, prolonged bleeding after the umbilical cord is cut at birth.
Other symptoms of hemophilia include easy bruising, frequent nosebleeds, blood in the urine, and bleeding after dental work.
Some people who have hemophilia may need to inject themselves with clotting factors to prevent uncontrolled bleeding. They may need to do this either regularly or only before strenuous activities or other specific situations when injury or bleeding may occur. There is no effective cure for hemophilia; management focuses mostly on relieving the side effects associated with the disease. Here are some medical terms associated with the condition you should be familiar to further understand it.
Clotting factors are the proteins found in the bloodstream that is responsible for normal clotting. People suffering from hemophilia do not produce enough clotting factors on their own. In mild cases, they may have about 50% of the necessary clotting factors, while in severe cases they can have less than 1%. There are more than 20 varieties of clotting factors in the human blood, but a person’s condition is only labeled as hemophilia if they are missing factors VII or VIII.
Factor Replacement Injections
In order for normal blood clotting to occur in patients with hemophilia, replacement clotting factors must be injected. There are two primary types of factors used—plasma-derived and recombinant concentrates. Plasma-derived factors are harvested from human plasma that has been screened and sterilized. On the other hand, recombinant concentrates are synthesized in laboratory settings. This is done by injecting animal cells that are genetically similar to human cells with the human DNA responsible for creating clotting factors. The cells reproduce and the clotting factors are eventually collected from them.
Gene therapy is the process of treating or replacing faulty genes. Since hemophilia is a genetic disorder, there is lots of promise in treating the condition with gene therapy. If successful, instead of treating patients with injections of clotting factors, they could be treated by repairing the genes responsible for their production. While initial testing with gene therapy has shown some positive results, its results typically disappear within two to three days of treatment.
While injections of replacement clotting factors is an effective way to treat hemophilia, in certain instances, a person’s body may interpret them as a foreign threat and attempt to get rid of them. To do this, the patient’s immune system will create antibodies known as inhibitors that prevent the injected factors from doing their job. While inhibitors are typically only a temporary response, treating them can be quite complicated and expensive.
Internal bleeding is a form of blood loss that occurs when blood collects in a body cavity or other space. Although external bleeding may seem like a more pressing issue for people with hemophilia, internal bleeding actually poses a larger risk, since it’s not immediately noticeable. This condition can place extra pressure on internal organs, which can cause them to malfunction, and in extreme cases, it can lead to brain damage or even death. Internal bleeding is most easily preventable when people with hemophilia receive factor replacement injections on a regular basis, as opposed to simply when an injury occurs.
This is one method for receiving injections of replacement clotting factors. With this approach, hemophilia patients get replacements on a regular basis—sometimes daily or weekly—which prevents uncontrolled bleeding before it actually begins. While prophylaxis is more expensive than receiving injections only after bleeding has started, it’s been shown to be more effective than this method. Additionally, it helps reduce the risk of joint damage, which is irreversible and occurs when blood begins to accumulate in joint cavities.
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