Hemophilia Symptoms, Risk Factors, Types, and Treatment

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

Hemophila Types and Symptoms

The are two common types of the hemophilia. Type A, considered classic, is different than type B, also called the Christmas disease. Depending on the severity and type of a patient's hemophilia, bleeding may occur spontaneously (without injury) or after surgery or trauma. Depending on the severity and type of a patient's hemophilia, bleeding may occur spontaneously (without injury) or after surgery or trauma.

According to the Centers for Disease and Control symptoms of both types of hemophilia include:

• Bleeding into the joints that can cause swelling and pain or tightness in the joints, affecting the knees, elbows, and ankles
• Bleeding into the skin, or muscle and soft tissue, causing a hematoma
• Bleeding of the mouth and gums that is hard to stop after tooth loss.
• Bleeding after circumcision
• Bleeding after shots and vaccinations
• Bleeding in the head of an infant after a difficult delivery
• Blood in the urine or stool
• Frequent and hard-to-stop nosebleeds

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 about 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 Hemophilia Federation of America reports a family history in 70% of hemophilia cases, with inherited genes passed between parent and child. A mother who carries the gene has a 50% chance of having a son or daughter with hemophilia, making the daughter a carrier herself if inherited. Furthermore, a son could not inherit hemophilia from his father since he only receives a Y chromosome from the male parent. The mutated gene is passed through the X chromosome, obtained by the female parent.  

Diagnosis

Hemophilia is suspected when a person has excessive bleeding and diagnosed by measuring the coagulation factors that are proteins needed to clot the blood to stop bleeding.

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 a test of coagulation factors 8, 9, 11, and 12.

Unless there is a clear family history, usually all four 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 are 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.