Signs and Symptoms

What Are the Signs and Symptoms of Hemophilia?

The major signs and symptoms of hemophilia are excessive bleeding and easy bruising. The extent of bleeding depends on how severe the hemophilia is. Children who have mild hemophilia may not have signs unless they have excessive bleeding from a dental procedure, an accident, or surgery. Males who have severe hemophilia may bleed heavily after circumcision.

Bleeding can occur on the body’s surface (external bleeding) or inside the body (internal bleeding).

Signs of external bleeding may include:

• Bleeding in the mouth from a cut or bite or from cutting or losing a tooth
• Nosebleeds for no obvious reason
• Heavy bleeding from a minor cut
• Bleeding from a cut that resumes after stopping for a short time

Signs of internal bleeding may include:

• Blood in the urine (from bleeding in the kidneys or bladder)
• Blood in the stool (from bleeding in the intestines or stomach)
• Large bruises (from bleeding into the large muscles of the body)

Bleeding in the knees, elbows, or other joints is another common form of internal bleeding in people who have hemophilia. This bleeding can occur without obvious injury.

At first, the bleeding causes tightness in the joint with no real pain or any visible signs of bleeding. The joint then becomes swollen, hot to touch, and painful to bend.

Swelling continues as bleeding continues. Eventually, movement in the joint is temporarily lost. Pain can be severe. Joint bleeding that isn’t treated quickly can damage the joint.

Internal bleeding in the brain is a very serious complication of hemophilia. It can happen after a simple bump on the head or a more serious injury. The signs and symptoms of bleeding in the brain include:

• Long-lasting, painful headaches or neck pain or stiffness
• Repeated vomiting
• Sleepiness or changes in behavior
• Sudden weakness or clumsiness of the arms or legs or problems walking
• Double vision
• Convulsions or seizures

What causes Hemophilia?

A defect in one of the genes that determines how the body makes blood clotting factor VIII or IX causes hemophilia. These genes are located on the X chromosomes.

Chromosomes come in pairs. Females have two X chromosomes, while males have one X and one Y chromosome. Only the X chromosome carries the genes related to clotting factors.

A male who has a hemophilia gene on his X chromosome will have hemophilia. When a female has a hemophilia gene on only one of her X chromosomes, she is a “hemophilia carrier” and can pass the gene to her children. Sometimes carriers have low levels of clotting factor and have symptoms of hemophilia, including bleeding. Clotting factors are proteins in the blood that work together with platelets to stop or control bleeding.

Very rarely, a girl may be born with a very low clotting factor level and have a greater risk for bleeding, similar to boys who have hemophilia and very low levels of clotting factor. There are several hereditary and genetic causes of this much rarer form of hemophilia in females.

Some males who have the disorder are born to mothers who aren’t carriers. In these cases, a mutation (random change) occurs in the gene as it is passed to the child.

Sources:

https://www.nhlbi.nih.gov/health/health-topics/topics/hemophilia/causes

https://www.nhlbi.nih.gov/health/health-topics/topics/hemophilia/signs