Symptoms of Hemophilia

Hemophilia is a rare and usually inherited disorder in which the blood fails to clot as it should, resulting in potentially dangerous bleeding events.

In most cases, genetic mutations are the cause of hemophilia, leaving patients with little to no clotting factors, or proteins that circulate in the bloodstream and promote clot formation to limit blood loss in the event of an injury.

Bleeding

Hemophilia’s main symptoms are easy and excessive bleeding and bruising, which is in itself a type of bleeding. When a healthy person gets a cut, undergoes surgery, or bumps into something hard enough to bruise, the body normally recruits clotting factors to the injury site, which slow and then stop the bleeding.

Because some of these factors are lacking in people with hemophilia, their bleeds can prove especially difficult to control, raising the risk of even a small injury becoming a serious emergency.

In addition to excessive bleeding in response to an injury or trauma, spontaneous bleeds can also occur. Such spontaneous bleeding, however, is uncommon in people with milder forms of this disease. Rather, signs of hemophilia in these people may not become apparent until excessive bleeding follows a traumatic event, such as a serious injury or surgery.

Hemophilia in infants and children may also not be readily evident, and suspected only after excessive bleeding that follows dental procedures, surgery, accidents, and the like. In infants, the disease can sometimes manifest as an unexplained irritability.

Bleeding due to hemophilia can be broadly separated into two categories, depending on whether it is external or internal.

External bleeding

Signs of external bleeding in hemophilia generally take the form of frequent and excessive bleeds, either due to small injuries or without any known cause. These include frequent and unexplained nosebleeds, heavy bleeding from a small cut or scrape, or from a wound that previously stopped bleeding. Unusual bleeding can also follow a vaccination. Spontaneous bleeding from the mouth or gums, or excessive blood loss after having a tooth extraction are also common.

Internal bleeding

Bleeding in hemophilia often takes place below the skin, in the absence of any visible wound. Bruises, for instance, are a form of internal bleeding. Other signs of internal bleeding in hemophilia include swelling, pain, and tightness in the joints (joint bleeds), often those in the knees, elbows, and ankles. Likewise, the presence of blood in the urine or stool indicates bleeding within the urinary and digestive systems.

Bleeding inside the head or brain — an intracranial hemorrhage — is particularly concerning. This type of bleeding has its own set of symptoms, which may include a painful and lasting headache, frequent vomiting, double vision, convulsions or seizures, feeling drowsy or lethargic, or sudden clumsiness or weakness.

Intracranial hemorrhages are considered medical emergencies and require immediate help. Unstoppable bleeds, easy bruising, and symptoms of joint bleeds may also require prompt medical assistance, as these can carry lasting complications, such as permanent joint damage.

 

Last updated: July 13, 2021

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