Hemophilia Is a Rare Blood Clotting Disorder

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Hemophilia is a rare genetic condition in which your blood fails to clot as it should. This failure to clot is due to not having blood-clotting proteins. Without these clotting proteins, your body will bleed more than a person who does not have hemophilia. Typically small cuts and scrapes aren't of large concern. The greater concern is large injuries and internal bleeding. There are two major types of hemophilia, Type A and Type B. These are classified based on the clotting protein that is not being sufficiently produced. With Type A, the more common type, there is a lack of clotting factor VIII. Up to 70 percent of those with Type A hemophilia have a severe form of the disease. In Type B hemophilia, there is a lack of clotting factor IX.

Causes of Hemophilia

Hemophilia is typically an inherited disorder. However, there are up to 30 percent of sufferers that have no known family history of the disease. This is known as acquired hemophilia, which is fairly rare. In this type, the body's immune system attacks clotting factors. Acquired hemophilia can be associated with pregnancy, autoimmune conditions, cancer and multiple sclerosis.

The most common risk factor for hemophilia is a family member with the condition. Inherited hemophilia generally involves a mutation of the body's X chromosome. This means that hemophilia almost always occurs in males and is passed on from their mothers. This is because males have XY sex chromosomes whereas females have XX and are able to make up for the fault with the other X chromosome. The women carrying the gene mutation that causes hemophilia are typically just carriers who have no effects of the disease.

Symptoms of Hemophilia

Symptoms of hemophilia can vary depending on the type and severity of the disorder. Some of the most common effects of hemophilia include excessive bleeding and easy bruising. Some people also experience other symptoms, some of which are not as easily noticed. These symptoms include:

  • Excessive bleeding caused by any wound, cut or dental injury
  • Many large or deep bruises
  • Pain, swelling or tightness in your joints
  • Blood in urine or stool
  • Spontaneous nosebleeds
  • Bleeding again after previous bleeding has stopped
  • Unexplained irritability in infants

Internal bleeding is another major concern for those with hemophilia. Bleeding of the brain is a known risk and can be caused by a simple bump on the head. This is cause for serious concern. Symptoms of brain bleeding include:

  • Changes in behavior
  • Painful and prolonged headache
  • Sleepiness or lethargy
  • Repeated vomiting
  • Sudden weakness or clumsiness
  • Double vision
  • Convulsions or seizures

Treatment of Hemophilia

The main method of treatment for hemophilia involves replacing the missing clotting factor. This may be done on a continuous basis or as needed to treat severe cases. This replacement clotting factor can be derived from donor blood or synthetically made in a laboratory and is given by injection or intravenously.

Another form of treatment, usually for those with mild cases of hemophilia is a hormone given to stimulate the production of the missing or low-producing clotting factor. Clot-preserving medications may also be given to prevent clots from breaking apart. Physical therapy is another part of treatment for hemophilia to relieve the symptoms when internal bleeding has caused damage to joints. For minor cuts and scrapes, first aid including applying pressure, bandages and ice to stop bleeding is important to use.