Related topics: •  Diagnosis of Hemophilia •  Symptoms of Hemophilia

Hemophilia was first recognized many centuries ago, though it didn't have its current name until the 19^th century. In the second century AD, the condition was indirectly in the collection of Judaic law known as the Talmud, which exempted babies thought to have it from the rite of circumcision because of the danger of abnormal bleeding. In the 12^th century, an Arab physician known as Albucasis documented the case of a family whose males died of bleeding after minor injuries.

Six centuries passed. In 1802, a doctor in Philadelphia named Dr. John Conrad Otto noted a disease in certain families that involved unusual bleeding. He reported that it was inherited and affected males, and traced it back three generations. The name "hemophilia" appeared 20 years later in a medical journal, taken from the words hemo (for "blood" and the Greek word philia, which usually means dear, but in this context meant tendency -- i.e., "tendency to bleed").

It's a rare type of bleeding disorder that occurs when there is a deficiency or absence of a particular protein (clotting factor) needed for blood to clot. As a result, a person with hemophilia will experience longer bleeding after an injury because the clot formed is not strong enough to stop the bleeding.

A person with hemophilia will not bleed any faster than a person without hemophilia, but he or she will bleed slower and longer. This type of bleeding disorder is inherited and occurs almost exclusively in males.

Clotting factor is a series of blood proteins that go to work after there's an injury that damages blood vessels. When a blood vessel is torn, it tightens to reduce the flow of blood. Tiny cells in the blood called platelets stick together at the injury site to form a platelet "plug," and thread-like strands called fibrin bind the platelets together and form a fibrin net. The fibrin net entraps the plug, which has developed into a blood clot through a series of interactions among certain proteins in the blood (clotting factor). There are thirteen clotting factors and they all work in sequence to help form a clot.

The type of clotting factor that is missing determines what kind of hemophilia you have. The two most common types are hemophilia A and hemophilia B. In hemophilia A, the missing clotting factor is factor VIII. Hemophilia A is sometimes referred to as classical hemophilia. In hemophilia B, the missing clotting factor is factor IX. Hemophilia B is sometimes referred to as Christmas disease.

Hemophilia is an inherited disease, meaning that a gene responsible for causing hemophilia is passed from parent to offspring. In the United States, about one in every 8,000 male infants is born with it. Approximately 80 percent have hemophilia A, and 20 percent have hemophilia B. Hemophilia affects mostly males. The chances of having a child with hemophilia are the same for all racial and socioeconomic groups. Although females rarely have hemophilia, they may carry the gene that causes hemophilia and pass it on to their children.

Hemophilia was, in fact, often called "The Royal Disease" because it was passed from mothers to sons in several royal families. Queen Victoria, who ruled England from 1837 to 1901, was a carrier who passed it on to her son Leopold. Her daughters, Alice and Beatrice, were also carriers who passed on the disease to the Spanish, German, and Russian Royal families.

In an interesting aside, hemophilia may have influenced the outcome of modern Russian history. Alexandra, the tsarina of Russia in the early 1900s, was a carrier, and her first-born son Alexei had hemophilia. Although Russia was in turmoil, she and Nicolas were obsessed with their son's health problems. The monk Rasputin used hypnosis to relieve Alexei's pain and was viewed as the only one who could help the boy, so he wielded inordinate power over the Russian court. The mysterious illness of the heir to the throne, the pressure it put on the Royal family, and the influence of the "mad" monk were all seen as events contributing to the Russian Revolution of 1917.

During fertilization, a baby will inherit one sex chromosome from each parent. A daughter will receive one X chromosome from her mother and another X chromosome from her father (XX), while a son will receive one X chromosome from his mother and one Y chromosome from his father (XY).

The gene that is responsible for making clotting factor is found only on the X chromosome. This is called a sex-linked gene. If the gene is abnormal, the result is hemophilia unless there is a normal gene on a matching X chromosome to offset the abnormal gene.

A male infant receives one X chromosome from his mother and one Y chromosome from his father. As a result, if the gene on the X chromosome that is responsible for making clotting factor is abnormal, that son will be born with hemophilia.

In females, a daughter will receive one X chromosome from her mother and one from her father. If the mother contributes an X chromosome with normal genes and her father passes on an X chromosome that carries the abnormal gene for hemophilia, then the daughter will not have hemophilia. However, the daughter will still “carry” the gene that causes hemophilia and may pass that abnormal gene on to her own children. Females who carry the gene for hemophilia but are not affected with hemophilia are called “carriers.”

The hemophilia gene can also occur in a male or a female as a result of spontaneous gene mutation. If this occurs, the abnormal gene may be passed from female “carriers” for several generations before hemophilia appears. Women with fathers who have hemophilia are often referred to as “obligate carriers.”

New and improved treatments allow most people with hemophilia to lead normal, active lives. Research has shown that being physically active is extremely important for a person with hemophilia because the benefits of exercise can actually reduce or prevent bleeding episodes by strengthening the muscle surrounding vulnerable joints. In fact, the National Hemophilia Foundation strongly encourages regular exercise for people with hemophilia of all ages in order to preserve joint function.

-- Connie Matthiessen is a freelance writer specializing in health reporting. She is a former staff writer for the Center for Investigative Reporter and a former associate producer of a PBS series on health.

References

First published May 17, 2006
Last updated November 19, 2007
Copyright © 2006 Consumer Health Interactive

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