About Hemophilia: Treatment and Symptoms

Hemophilia is a rare, inherited bleeding disorder. The disorder restricts the body function of creating blood clots, which is a process that is necessary to stop the body from bleeding. People who have hemophilia will often bleed longer after an injury, bruise easier, and incur an increased risk of bleeding into muscles and joints. The severity of hemophilia may vary from mild cases to severe cases. People with mild cases may only experience the symptoms following serious injury or surgery. People with severe cases of bleeding into muscles and joints may experience permanent damage. Rare cases may involve people bleeding into their brains, which may result in headaches that last a very long time, a decreased level of consciousness, or seizures.

Hemophilia is generally inherited from someone's parents from the X chromosome when it contains a nonfunctional gene. In rare occasions, a new mutation can occur while a person is in early stages of development or later in life when antibodies form against one of the clotting factors.


Hemophilia A vs. Hemophilia B

There are two primary types of hemophilia, known as hemophilia A and hemophilia B. In hemophilia A, there is not enough clotting factor VIII, whereas in hemophilia B, there is not enough clotting factor IX.

Other less common types of hemophilia are hemophilia C, which is occurs when there is not enough clotting factor XI and parahemophilia which occurs when there is not enough clotting factor V.

Severity

Severity levels of hemophilia A can be broken down based on factor levels as follows:

     Mild hemophilia A cases result in factor levels between 6 percent and 30 percent and represents about 25 percent of cases.
     Moderate hemophilia A cases result in factor levels between 1 percent and 5 percent and represent about 15 percent of cases.
     Severe hemophilia A cases result in factor levels that are less than 1 percent and represent about 60 percent of cases.


Symptoms

Symptoms and signs of hemophilia may vary, depending on a person's severity of the disease and clotting factor levels. For people with mild reductions in clotting factor levels, bleeding will generally only occur after serious accident or surgery. On the other hand, in people with severe reductions in clotting factors, bleeding can occur spontaneously.

     Mild Hemophilia A: People who have mild hemophilia A will generally only experience mild bleeding after serious injury, accident, or surgery. In most cases, mild hemophilia A is only diagnosed after bleeding continues following surgery, injury, or dental procedures. Some women with mild hemophilia may experience heavy bleeding or hemorrhage after childbirth and heavy menstrual periods.
     Moderate hemophilia A: People who have moderate hemophilia A will usually experience excessive bleeding following accident, injury, or surgery, but may also experience spontaneous bleeding without any prior explanation.
     Severe hemophilia A: People who have severe hemophilia A will often experience profuse bleeding following injury, accident, or surgery and may also experience several unexplained, spontaneous bleeding, may incur painful bleeding into their muscles and joints.

Commons signs and symptoms may include the following:

     Unexplained shifts in mood, including irritability, in infants and young toddlers,;
     Nosebleeds without any prior explanation;
     Finding blood in stool or urine;
     Tightness, swelling, or pain in the joints;
     Unusual and extensive bleeding after receiving vaccinations;
     Several dark or large bruises with no explanation;
     Extreme amounts of bleeding after injury, accidents, cuts, surgery, or dental procedures.

Severe and emergency signs and symptoms may include the following:

     Seeing in double vision;
     Experiencing severe neck pain;
     Prolonged, severe headaches or migraines;
     Extreme, unexplained fatigue;
     Dizziness;
     Disorientation or confusion;
     Sudden occurrence of sharp pain in large joints, including shoulders, hips, elbows, and knees;
     Swelling, warmth, and/or pain in leg and/or arm muscles;
     Excessive bleeding after incurring an injury or accident.



Treatment

There is currently no cure for hemophilia A but there are a number of measures that can be taken to improve the management of symptoms and outcomes.

Clotting factor VII replacement therapy is the most common form of treatment for hemophilia A. While clotting factor VII  replacement therapy is not usually needed for mild cases of hemophilia A, it is common in moderate and severe cases.

Factor VIII replacement therapy is typically only needed in the treatment of moderate hemophilia A cases when bleeding is actually occurring or to prevent bleeding from occurring during certain events, such as surgery, dental procedures, and possibly childbirth.

Factor VIII replacement therapy is highly recommended for treatment in people with severe cases of hemophilia A and is often recommended by doctors to be administered as many as two or three times every week for the duration of the person's life.

Factor VIII replacement therapy may be either formed using laboratory methods that use genetic recombination, isolated from human blood serum, or a combination of both. Because some people may develop antibodies or inhibitors against the factor VIII replacement therapy, the amount of the factor VIII replacement therapy may need to be increased or substituted using non-human replacement products, such as in porcine factor VIII replacement, which is derived from pigs.

Factor VIII replacement therapy may be given as part of preventative measures prior to an event or need, or when needed, as in following an accident. When used as part of preventative measures, the clotting factor VIII might be infused on a regular schedule in order to keep clotting levels at their required amounts or in an effort to prevent episodes of spontaneous bleeding.

In some mild cases of mild hemophilia A, desmopressin (DDAVP) may be used as an alternative form of treatment.  DDAVP is a man-made hormone that cannot treat severe cases of hemophilia A or hemophilia B.

DDAVP works by stimulating the release of factor VIII that is stored, as well as releasing the von Willebrand factor, which is related to another bleeding disorder, Willebrand Disease.

References:

Hemophilia A (n.d.). National Hemophilia Foundation. Retrieved from: https://www.hemophilia.org/Bleeding-Disorders/Types-of-Bleeding-Disorders/Hemophilia-A

How Is Hemophilia Treated? (2013, July 13). [Web]. Retrieved from: https://www.nhlbi.nih.gov/health/health-topics/topics/hemophilia/treatment


What Are the Signs and Symptoms of Hemophilia? (2013, July 13). [WEB]. Retrieved from: https://www.nhlbi.nih.gov/health/health-topics/topics/hemophilia/signs

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