What Is Hemophilia?

About Hemophilia

Hemophilia is a rare, benign blood disorder that usually is inherited. It occurs when the body is missing essential blood-clotting factors within the blood, causing difficulty with clotting after an injury. When a person experiences a cut or other injury that causes blood loss, the body typically initiates a coagulation cascade, a process that allows blood clots to form at the site of the injury to stop the bleeding. Clotting is essential for preventing excess bleeding after an injury or trauma, and prompts formation of a scab over a wound to close it. However, people with hemophilia cannot properly create blood clots, which can cause excessive bleeding and frequent bruising.

Most cases of hemophilia occur in males. People can be diagnosed with three different types of hemophilia – Hemophilia A, Hemophilia B, and Hemophilia C. The type of hemophilia a person is diagnosed with depends on the factor that is missing from his or her blood. If people are missing clotting factor VIII, they have Hemophilia A. If they are missing clotting factor IX, they have Hemophilia B. Hemophilia C is a rarer blood disorder that develops when the body is lacking or missing clotting factor XI. Most people with hemophilia have with Hemophilia A. Regardless of hemophilia type, the severity and symptoms of the disorder can vary widely from one person to another.

What Causes Hemophilia?

Blood contains proteins and other elements that allow efficient clotting and healing of wounds to prevent losing excess blood from an injury. These proteins are called clotting factors. People diagnosed with hemophilia are missing large amounts of these clotting factors. This can cause bleeding from cuts and common injuries to become dangerous.

People with missing clotting factors often have a change or mutation in the gene that instructs other genes on how to create a blood clot. When this gene is altered, it renders other genes unable to function properly, meaning they may not produce enough clotting factors or may create abnormal ones. Most people with hemophilia are born with the disease, which can be inherited from either parent. However, it can also arise later in a person’s life, if antibodies in the immune system begin to identify the blood’s natural clotting factors as a threat, prompting the antibodies to attack those factors.

Signs and Symptoms

The signs and symptoms of hemophilia can present themselves differently in men as opposed to in women. Some women may not experience symptoms but can still pass the gene on to children. Others may have mild symptoms, such as easy bruising or unusually heavy menstrual periods. Generally, people with the disease can experience pain if blood from internal bleeding begins to collect in the joints or under the skin.

The most common symptoms of hemophilia include frequent bruising and excessive or seemingly random bleeding. Other common signs and symptoms include:

• Frequent, random, or difficult-to-stop nosebleeds
• Swelling or tightness in joints
• Bloody stool or urine
• Pain in joints, such as the ankles, knees, and elbows
• Head bleeding in infants after a difficult delivery
• Excessive bleeding after vaccinations
• Hematomas
• Excessive bleeding during procedures performed on infants, such as circumcision
• Bleeding in gums and mouth
• Excessive or difficult-to-stop bleeding after losing a tooth
• Hard-to-stop bleeding from cuts and other injuries
• Large, swollen lumps on the heads of infants and children

People with mild cases of hemophilia may not know they have the disease until they undergo surgery or experience a severe injury. People with more severe hemophilia typically bleed more frequently and randomly than those with mild cases of the disease, prompting earlier diagnosis.

Risk Factors

In most cases, people with hemophilia are diagnosed at birth after inheriting the responsible gene from a parent. While both males and females can carry the gene that causes blood-clotting problems, it is mostly present in males and rarely found in females. If a person is diagnosed with hemophilia or has a family history of the disease, future male children should be tested shortly after birth to see if they have the gene. Children also can be born with hemophilia despite having no family history of the disease. Physicians may recommend that babies be tested if the infants have signs or symptoms that may indicate hemophilia.

People can also develop the disease later in life. In these cases, symptoms typically arise during middle age or later. Women can develop hemophilia in the later stages of pregnancy or after giving birth.

Treatment Options for Hemophilia

The main treatment approach to hemophilia is replacement therapy, meaning intravenous administration of the blood clotting factor that a patient is missing. Injecting clotting factor concentrates into a vein allows the blood to clot properly. Blood factor concentrates can be infused as preventive therapy or to control a bleeding episode. Blood factor concentrates may be developed from human blood or created using recombinant DNA technology, with no use of human plasma. When blood donations are used to develop blood factor concentrates, the blood is first screened and treated to ensure that it is free of diseases such as HIV or hepatitis. In many cases, injections can be performed at home.

Unfortunately, with prolonged treatment, some patients develop inhibitors that stop the blood factor concentrates from working. Physicians monitor patients closely for the development of inhibitors, and have specialized treatment plans that they can employ if inhibitors are identified. Immune tolerance induction, or ITI, is one approach to dealing with inhibitors. ITI involves having a patient receive daily doses of clotting factors, which can decrease inhibitors in the body. This is a long-term treatment, with the length of therapy ranging anywhere from months to years.

When undergoing replacement therapy, some patients also may receive medications that facilitate efficient clotting and that keep blood clots strong. Proper treatment of hemophilia can help many patients enjoy the same quality and length of life as that experienced by people without the disease.

Living With Hemophilia

Without treatment, hemophilia can cause serious problems, such as excessive bleeding in the joints, head, or brain. When this happens, more debilitating symptoms, like paralysis or seizures, can occur. Eventually, life-threatening consequences can occur. With the right treatment plan, however, patients can protect their health, avoid or achieve relief from symptoms, and continue to have a high quality of life. Patients diagnosed with hemophilia must receive ongoing monitoring and treatment for the rest of their lives.

People living with hemophilia should avoid certain physical activities, including:

• High-contact sports, such as rugby, football, or hockey
• Minimal-contact sports, such as baseball, soccer, and basketball
• Wrestling or boxing
• Riding a skateboard
• Riding a motorcycle
• Hang-gliding
• Karate

Patients should also avoid medications that affect the body’s ability to form clots. Physicians may also recommend lifestyle changes, such as maintaining a healthy weight, exercising, eating a healthy diet, practicing optimal dental hygiene, and decreasing stress.

People living with hemophilia should tell all of their physicians and other healthcare providers that they have been diagnosed with the condition. This is especially true if a patient requires surgery or other procedures, including dental work. This way, healthcare professionals can prepare and take extra caution to avoid or control excessive bleeding.

Seek Treatment for Hemophilia and Other Blood Disorders

The hematologists and medical oncologists of Regional Cancer Care Associates have considerable experience and expertise in managing hemophilia and other blood disorders. With 20 locations across New Jersey, Connecticut, Maryland, and the Washington, D.C., area, patients can receive comprehensive, compassionate treatment for a variety of cancers, blood-related disorders, and other conditions. To learn more about the treatments offered for hemophilia and other blood-clotting disorders, contact us today or request an appointment.