Hemophilia is an inherited bleeding disorder. A person with hemophilia is missing a blood factor need to clot the blood which results in excessive bleeding.

Symptoms

People with hemophilia are sometimes referred to as “free bleeders” meaning they bleed easily. Depending on the severity, bleeding may occur spontaneously (without injury) or after surgery or trauma. Symptoms include:

Prolonged nosebleeds

Bleeding from gums

Large bruises

Prolonged bleeding after surgery or shots, including circumcision

Swelling of the large joints (shoulders, elbows, knees, ankles) from bleeding into the joint

Pain from bleeding into joint or muscle

Who Is at Risk?

Men born into families with a history of hemophilia in other relatives are at risk. To understand the inheritance of hemophilia, we need to talk a little genetics. Males have an X chromosome from their mother and a Y chromosome from their father. Females inherit an X chromosome from both their father and mother. The defect for hemophilia is found on the X chromosome, meaning mothers (who are carriers for the disorder) pass this genetic defect to their sons; this is called X-linked inheritance. Because they have two X chromosomes, daughters are generally not affected (but can be in rare circumstances).

Diagnosis

Hemophilia is suspected when a boy or man has bleeding that seems excessive. It is diagnosed by measuring the coagulation factors (proteins needed to clot the blood).

Your physician will likely start with laboratory tests to assess the entire coagulation system. These are called the prothrombin time (PT) and partial thromboplastin time (PTT). In hemophilia, the PTT is prolonged. If the PTT is prolonged (above normal range), a deficiency of a coagulation factor may be the reason. Then your physician will order coagulation factors (protein in blood that stops bleeding) 8, 9, and 11. Unless there is a clear family history, usually all 3 factors are tested at the same time. These tests give your physician the percent of the activity of each factor, which is low in hemophilia. Diagnosis can be confirmed by genetic testing.

Types

Hemophilia can be classified by the particular coagulation factor missing.

Hemophilia A results from a deficiency in factor 8.

Hemophilia B (also called Christmas disease) results from a deficiency in factor 9.

Hemophilia C (also called Rosenthal syndrome) results from a deficiency in factor 11.

Hemophilia can also be classified by the amount of coagulation factor found. The less coagulation factor you have, the more likely you are to bleed.

Mild: 6 – 40%

Moderate: 1-5%

Severe: < 1%

Treatment

Hemophilia is treated with factor concentrates. These factor concentrates are infused via a vein (IV). Hemophilia can be treated in two different methods: on demand only (when bleeding episodes occur) or prophylaxis (receiving factor once, twice, or three times per week to prevent bleeding episodes).

How you are treated is determined by multiple factors including the severity of your hemophilia. In general, people with mild hemophilia are more likely to be treated on demand as they have significantly less bleeding. Fortunately, the majority of hemophilia treatments is administered at home. Parents can learn how to administer the factor to their children through a vein at home or a home health nurse can administer the factor. Children with hemophilia can also learn how to administer factor concentrates to themselves, often before becoming teenagers.

Although factor concentrates are the preferred treatment, this treatment is not available in all countries. Hemophilia can also be treated with blood products. Factor 8 deficiency can be treated with cryoprecipitate (a concentrated form of plasma). Fresh frozen plasma can be used to treat factor 8 and factor 9 deficiency.

In mildly affected patients, a medication called desmopressin acetate (DDAVP) can be administered via a vein or nasal spray. It stimulates the body to release stores of factor 8 to assist in cessation of bleeding.