Hemophilia is a condition that keeps blood from clotting normally.
If blood doesn't clot normally, people can bleed very easily or much more than normal. The bleeding can sometimes be life-threatening.
People with hemophilia are missing a protein in the blood that helps the blood clot.
There are 2 main types of hemophilia (called "A" and "B"), depending on which protein is missing:
Most people with the changed gene do not know they have it because they don’t have any symptoms. Some people with the changed gene have a higher risk of blood clots.
The Roman numeral for 9 is IX, and hemophilia B is also called "factor IX deficiency."
It is important to know whether you have hemophilia A or B, since the treatment is different.
Hemophilia is a life-long condition that a person is born with.
It is caused by a change in a gene.
Sometimes, parents pass the gene to their child.
Other times, the change can happen before a child is born.
In some of these cases, the parents might not have hemophilia.
Severe hemophilia is most common in males. This is because the factor 8 and factor 9 genes are on the X chromosome, and males only get 1 X chromosome. Females can get hemophilia too, but it is usually milder.
Symptoms depend on how mild or severe a person's hemophilia is. Some children start having symptoms from birth. For example, a male baby might bleed much more than normal if he has a procedure to remove the skin that covers the tip of the penis (called "circumcision"). Other children, especially those with mild hemophilia, can start having symptoms when they are older.
People with mild hemophilia usually bleed more than normal after an injury, procedure, or surgery.
People with severe hemophilia also bleed more than normal after an injury, procedure, or surgery. But they can also have bleeding that happens for no reason at all. This type of bleeding often happens in a joint or muscle. The joints most often involved are the ankles, knees, and elbows. Blood in a joint can cause pain, swelling, stiffness, and trouble moving the joint. Over time, repeated bleeding in a joint can lead to long-term joint pain and damage.
Symptoms can also happen from bleeding in other parts of the body. These can include:
Yes. Your HEMATOLOGIST can check for hemophilia by doing different blood tests.
The hemophilia gene can be passed from a pregnant person to their baby.
Genetic testing can show if you have the gene.
If you do, doctors can do a few things to help prevent problems:
Treatment depends on how severe a person's hemophilia is. It also depends on whether the person is going to have a procedure or surgery.
One treatment for hemophilia is called "factor replacement therapy." This provides the clotting factor that the body is missing.
There are different types of replacement clotting factors. Some are made from human blood, and others are made using cells grown in a lab. Replacement therapy goes into a vein. People can get this treatment in the hospital, or they can give it to themselves (or have someone else give it to them) at home. This is the main treatment for hemophilia B.
Replacement therapy is used in 2 ways:
For people with hemophilia A, another treatment can be used instead of factor replacement.
It is given as a shot under the skin once a week, every other week, or once a month.
Deciding which treatment is best can be complicated. A hemophilia treatment center or and your HEMATOLOGIST decide which treatment is best. These centers also help people plan ahead for things like surgery.
Some people have something called an "inhibitor" in their blood. This is an antibody, or protein, that works against the factor being used to treat hemophilia. It can make factor replacement therapy not work as well. This is more common in hemophilia A than in hemophilia B. If tests show that you have an inhibitor, you might need other treatments. Your doctor will talk to you about the options.
Before there were blood tests for HIV and hepatitis C virus, some factor replacement therapy was made from blood that had these viruses. As a result, people with hemophilia could become infected. But now that there are blood tests for these viruses, all factor replacement therapy made from human blood is tested. Some factor replacement therapy is made from cells in the lab rather than from human blood.
Deciding which factor replacement therapy is best for you is very complicated. Your doctor will discuss the options with you and help you make the best choice for your situation.
To avoid bleeding problems, people with hemophilia should:
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