What is Hemophilia

Hemophilia: A Rare Bleeding Disorder

Hemophilia is a bleeding disorder that prevents blood from clotting properly. In people with hemophilia, certain proteins known as clotting factors are low or completely absent. When trauma occurs, they experience prolonged bleeding because the coagulation mechanism isn’t functioning as it should. This can present risks if a hemophiliac experiences an injury, has a tooth pulled, or undergoes surgery. Since it is linked to the X chromosome, hemophilia mostly occurs in males. The condition is fairly rare, affecting around 1 in 5,000 male births.

What is Hemophilia

Hemophilia can vary in severity, with some cases being mild. There are three main types of the condition: Hemophilia A, Hemophilia B, and Hemophilia C. They are defined by which clotting factor is deficient. Hemophilia A is the most common type and occur when a person is low in factor VIII. Although Hemophilia B has similar symptoms to Hemophilia B, it is more rare, and it occurs when there is a deficiency in factor IX. This type is sometimes referred to as Christmas disease. Hemophilia C is the rarest and most mild form of the disorder that can affect both males and females. It occurs with a deficiency of factor XI.

What are the Symptoms?

The symptoms of the disorder depend on whether a person has a mild, moderate, or severe form. With mild hemophilia, a person may not know they have the disorder until later in life. Bleeding issues may only present themselves when the person has dental work done or undergoes surgery.

Moderate and severe hemophilia present themselves in a similar manner. The two are differentiated by the frequency of the symptoms. In both severity levels, signs of the disorder are often noticed early on in life. Children will bruise easily and bleed excessively with minor wounds. If they fall, they may experience bleeding inside the joints, which can cause pain and tingling sensations. Other symptoms include:

  • Spontaneous nose bleeds
  • Unexplained bruising
  • Bleeding in gums
  • Blood in urine or stool

Who’s at Risk?

Hemophilia is an inherited disorder that is caused by a defect in certain genes. These genes are carried on the X chromosome. Females are carriers of the defect and can pass the gene on to their children, but they themselves do not usually exhibit symptoms of the disorder. Males who carry the defect will have symptoms, but will only pass the gene on to their daughters. Men with hemophilia will not pass the disorder on to their sons. A woman who is a carrier has a 50 percent chance of passing it on to their sons, and a 50 percent chance of passing the gene on to their daughters.

If a pregnant woman has a family history of hemophilia, they can have a CVS, or chorionic villus sampling, test performed. Tests can also be done anytime after birth if the child is suspected of having the disorder. Hemophilia can sometimes be caused by new genetic mutations, and around one-third of all sufferers do not have a family history of the disease.

What are the Treatments?

Although there is no cure for hemophilia, there are a number of treatments available that can replace the proteins needed for blood to clot and decrease the risks involved with excessive bleeding. With proper treatment, the risk of joint damage is greatly reduced, and children can participate in sports and other physical activities.

Treatment depends on which clotting factors a person is deficient in. Those with Hemophilia A are often prescribed a hormone called desmopressin which helps with clotting. People with hemophilia can also receive infusions of the necessary clotting factors. This is commonly referred to as replacement therapy.