Hemo, meaning “blood”, and philia, meaning “love”, make up the word hemophilia, but hemophilia isn’t the love of blood, so what is it? Hemophilia is a rare bleeding disorder which causes the affected person to bleed more than a person without hemophilia would. When a child with hemophilia falls off his bike and cuts his knee, the blood takes longer to clot at the sight of the cut than it would for a child without hemophilia. Hemophilia also causes joint damage because the built up blood of a bleed inside the body erodes joints. Out of the two types of hemophilia: hemophilia A, which is factor VIII deficiency, and hemophilia B, factor IX deficiency, hemophilia A is more common with 80 percent of cases being this type (Dowshen). Yet what causes this bleeding disorder? How does someone get it? How can it be treated? Since the discovery of the cause of hemophilia in the 20th century, many hemophilia patients have been helped because treatments for this disorder have been developed, inhibitors have been discovered, and treatments for inhibitors have been created.
What Causes Hemophilia?
Hemophilia is the result of having factor VIII or factor IX deficiency. Factor VIII and IX are two types of clotting factor which help the body stop a bleed. The KidsHealth article “Hemophilia” explains that when a child falls and scrapes his knee, “platelets go to where the bleeding is and plug up the hole.” These platelets release chemicals that attract proteins called clotting factors to “form fibers [that] make the clot stronger and stop the bleeding.” However, a child with hemophilia is missing one of his twelve clotting factors, which are labeled with roman numerals I through XII, and the clotting factor he does have cannot form strong enough fibers. A person with hemophilia can only be missing one clotting factor, which is either factor VIII or IX.
Hemophilia is either inherited or develops in the womb; therefore, unlike many blood diseases, hemophilia is not contagious. To be inherited, hemophilia has to be passed through the X chromosome. Mothers who are carriers of hemophilia have a fifty percent chance of giving their daughters the hemophilia carrying gene and a fifty percent chance of giving their sons hemophilia. Fathers with hemophilia will pass on a carrying gene to their daughters but won’t affect their sons. A carrier mother and a father with hemophilia have a fifty percent chance of having a carrier daughter, a son with hemophilia, or a daughter with hemophilia (Inheritance).
However, hemophilia does not have to be inherited. Nearly “30 percent of [hemophilia] cases are due to a spontaneous mutation of the Factor VIII gene” (Gene). These “spontaneous mutations” have no genetic history but will stay in the genes of the family as long as there are more children to inherit the hemophilia gene.
Treatments for Hemophilia
The main part of living with hemophilia is controlling it. And to control it, you have to treat it. According to the...