Hemophilia is a disorder where the person’s blood doesn’t clot the way it should. This makes it difficult to control bleeding from even a minor wound. This deficit is caused by the lack of Factor VIII, a protein that helps blood clot and staunch wounds. The lack of the protein is caused by mutations in the F8 gene on the person’s X chromosome, and it is inherited through their mother. Most people who have hemophilia are male, but females who have the mutated gene sometimes have episodes of prolonged if mild bleeding. Depending on the levels of Factor VIII, a person with hemophilia can have mild, moderate or severe forms of the disease. People who have a mild form of the disease may have frequent bleeding and bruising of their mucous membranes. They tend to have regular nosebleeds and bleed excessively after even minor surgery or injury. Still, they may not know they have the disease until they need to have oral surgery as an adult. People with the moderate form of hemophilia bleed for unknown reasons and bruise often and easily. These people are diagnosed in childhood. Those with severe disease are diagnosed when they are infants. They sometimes bleed into their muscles, joints and internal organs. This can cause terrible pain and be life-threatening.
A Famous Case
Hemophilia is famously connected with Queen Victoria, for a number of her male descendants were afflicted with the disease. Her youngest son, Leopold, died from complications of the disease. While on vacation, he fell down some steps and suffered injuries to his knee and his head. Though a healthy person might have survived these injuries, Leopold bled to death from a cerebral hemorrhage when he was only 30. Historians do not know why Victoria’s descendants inherited hemophilia, for there didn’t seem to be a history of it in her family. Biologists also know that hemophilia can arise spontaneously. It can also be acquired because the person’s immune system attacks Factor VIII. In that case, hemophilia is considered an autoimmune disease.
Frequently Asked Questions
It’s likely you still have many questions. This Q+A section is designed to answer some of those questions and provide you with some extra information about hemophilia.
Q: Is hemophilia curable?
A: Hemophilia is not curable as of 2021, but treatments are available that allow patients to live with their disease. Patients are now treated with a lab grown version of Factor VIII. This version of Factor VIII isn’t made from human blood. Still, if human blood is used to produce Factor VIII, it is easy to screen for and purify it of blood-borne diseases. Patients whose disease is mild or moderate can receive transfusions of Factor VIII when necessary. This can even be done at home by the patient or their parents. There are many medications that can treat hemophilia. Some patients make antibodies that attack even their Factor VIII replacement, but there are medications to treat this as well.
Q: Why don’t women get hemophilia if there’s a problem on the X chromosome?
A: Scientists believe that women do not get hemophilia because they have two X chromosomes. One of the X chromosomes compensates for the chromosome that is damaged. Since males have just one X chromosome, they will get hemophilia if that chromosome has the mutated gene. These men also pass on the mutated gene to their daughters but not their sons. Sons always get their X chromosome from their mother. In unusual cases, some females do exhibit mild symptoms of hemophilia.
Q: Does hemophilia affect one group more than another?
A: Hemophilia affects all races and ethnic groups equally. Doctors believe that about 1 in 5000 boys are born with hemophilia, and 60 percent of these boys have the severe type of the disease.