Navigating life with hemophilia starts with knowledge. We’re here to
connect you with education that can help you make informed decisions,
advocate for yourself, and redefine how you navigate life with
hemophilia. Here, you’ll find information about
what hemophilia is
and
how it’s inherited. You can also learn about
how a blood clot forms, see common
signs and symptoms
of hemophilia, and more.
What is hemophilia?
Hemophilia is a rare, lifelong condition that prevents the blood from
clotting due to missing clotting factor proteins. Hemophilia is caused
by a genetic mutation on the X chromosome. In most cases, this mutation
is inherited, but about 30% of the time it is caused by spontaneous
mutation.
For people living with hemophilia, there are two common types:
Hemophilia A
Also called factor VIII (FVIII) deficiency, it is caused by missing or defective clotting factor VIII.
Hemophilia B
Also called factor IX (FIX) deficiency, it is caused by missing or defective clotting factor IX.
How hemophilia is inherited
If you have hemophilia in your family, knowing how the hemophilia gene
is passed from generation to generation can help you make informed
decisions for yourself and your family. Hemophilia mostly affects men
who inherit the mutated X chromosome, but women who inherit this
chromosome can be affected as well.
Male inheritance
Since males have one X and one Y chromosome, they will have
hemophilia if they inherit an X chromosome carrying the hemophilia
gene. Males inherit their X chromosome from their mother, so
hemophilia is always passed down from a mother to a son unless there
is a spontaneous mutation.
Female inheritance
Since females have two X chromosomes and receive one from each
parent, fathers with hemophilia will pass the mutated gene on to a
daughter 100% of the time. Mothers with the hemophilia gene are
considered carriers and have a 50% chance of passing it on to a
daughter.
How the body forms a blood clot is a complex process, but it is
important knowledge for anyone living with hemophilia. When a person
has a bleeding injury, a process takes place called the clotting
cascade. All steps in this process need to happen for stable clots to
form. For people living with hemophilia, the lack of factor VIII or
factor IX disrupts the clotting cascade and stable clots cannot form.
How the body forms a blood clot is a complex process, but it is
important knowledge for anyone living with hemophilia. When a person
has a bleeding injury, a process takes place called the clotting
cascade. All steps in this process need to happen for stable clots to
form. For people living with hemophilia, the lack of factor VIII or
factor IX disrupts the clotting cascade and stable clots cannot form.
Let’s break down the steps at a high level:
After an injury occurs, platelets start forming a clot, but they need help sticking together to fully stop the bleeding. A series of proteins help form a mesh around the unstable platelet plug to form a stable clot. This is the start of the clotting cascade.
Once the clotting cascade is underway, factor VIII (missing or deficient in hemophilia A) becomes activated and then works together with activated factor IX (missing or deficient in hemophilia B) to activate factor X.
After factor VIII, IX, and X are activated, they work together to generate thrombin, which is necessary to form a stable clot.
Once thrombin is activated, it helps create the crucial fibrin mesh that spreads over the platelets, binding them together into the stable clot that stops the bleeding. If any factor is missing or not working, the clotting cascade won’t work and stable clots can’t form.
Visit our Levels Matter site to learn more about factor activity and the
clotting cascade.
Recognizing the signs and symptoms is key to managing hemophilia.
Symptoms can vary based on the levels of clotting factor in your blood
and the severity of your condition. Common symptoms include:
Swelling, pain, or tightness in the joints, particularly the
knees, elbows, or ankles
Bleeding after having shots, which could lead to muscle bleeds
Heavy menstrual periods
Bruising on the skin
Blood in the urine or stool
Low iron or have anemia
Bleeding in the mouth and gums that’s difficult to stop
Frequent and hard-to-stop nosebleeds
If you or someone you care for is experiencing one or more of these
symptoms, contact your doctor. Bleeds that go unaddressed can
potentially affect joint health.
Learn more about joint health and bleed management.
Beyond the basics
PK and factor activity
Read about pharmacokinetics and how it can help determine the right treatment for you.