Hemophilia is a rare bleeding disorder usually caused by certain genes. Most often, hemophilia genes are passed down in families, although some cases result from a random genetic mutation (change). Because of the way the gene for hemophilia is inherited, most people with hemophilia are males, according to Mayo Clinic. Females are more likely to be carriers of the gene for hemophilia, but some do have bleeding symptoms.

A more common bleeding disorder called von Willebrand disease affects men and women in equal numbers, according to the Centers for Disease Control and Prevention (CDC). In some cases, bleeding disorders can be acquired later in life rather than present at birth.

Hemophilia is a chronic condition with no cure, but it can be effectively treated in most people. Uncontrolled bleeding is the most common symptom, but hemophilia can also cause pain, fatigue (extreme tiredness), depression, and joint damage that interferes with mobility. On average, people with hemophilia have lifespans similar to those without hemophilia.

What Is Hemophilia?

Blood clotting is a complex process involving a sequence called the coagulation cascade. This cascade includes a range of specialized proteins called clotting factors. Each factor plays an essential role in blood clotting. When one of these factors is missing or doesn’t work properly, blood can’t clot as it should, leading to dangerous bleeding risks. In conditions like hemophilia and related bleeding disorders, the body makes either too little of a clotting factor or an abnormal form that’s less effective in forming clots.

The three most common types of bleeding disorders are:

• Von Willebrand disease — lacking von Willebrand factor (VWF)
• Hemophilia A — Lacking factor VIII (8)
• Hemophilia B — Lacking factor IX

Less common bleeding disorders include deficiencies in factors I, II, V, VII, X, XI, XII, and XIII. (You’ll usually see Roman numerals used in any discussion of clotting factors.)

Hemophilia symptoms can be mild, moderate, or severe. The more deficient a person is in a clotting factor, the more severe their symptoms tend to be.

Read more about the types and severity levels of hemophilia.

The History of Hemophilia

Hemophilia was known as the “royal disease” during the 19th and 20th centuries because it affected the royal families of several European countries. Queen Victoria of England is thought to have passed the genetic mutation to three of her children, who later married into the royal families of Spain, Germany, and Russia. Several of Queen Victoria’s descendants died young due to hemophilia. The members of the current British royal family don’t carry hemophilia.

Life expectancy in the early 1900s for a person with hemophilia was 13 years, and disability was common by age 20. In 1905, German researcher Paul Oskar Morawitz discovered and categorized clotting factor defects for factors I, II, III, and IV. Transfusion technology improved during World War II, and people with hemophilia were able to receive transfusions of fresh blood or plasma containing their missing clotting factor.

By 1953, 13 clotting factor defects had been discovered. Factor IX, or hemophilia B, was originally dubbed “Christmas disease” by an English hematologist, Dr. Rosemary Biggs. Dr. Biggs named the bleeding disorder after Stephen Christmas, the first person identified with hemophilia B. Life expectancy for a person with hemophilia reached 39.7 years by 1960.

In 1964, American scientist Judith Graham Pool developed a method to freeze and thaw plasma, which allowed the collection of a top layer rich in clotting factors, called cryoprecipitate. This, along with the development of freeze-dried and concentrated clotting factors in the early 1970s, allowed people with hemophilia to administer their own clotting factor infusions at home.

The demand for plasma continued to rise. Clotting factor concentrates were produced by pooling plasma from as many as 20,000 donors and distributing it in bulk. In the 1970s and ’80s, donor screening and testing were minimal, leading to widespread transmission of hepatitis among people with hemophilia who used these concentrates. Many doctors viewed this risk as acceptable, considering the concentrates significantly improved life expectancy and quality of life for people with hemophilia.

How Did the Spread of HIV Affect Clotting Factor?

What doctors didn’t anticipate was the spread of HIV. In the early 1980s, doctors recorded several cases of HIV in people with hemophilia. In 1982, the nonprofit World Federation of Hemophilia presented evidence to the CDC and blood banking companies that HIV may be a blood-borne disease. The CDC rejected this claim due to “lack of research,” and blood banking companies refused to change the way they screened donors. At that time, the CDC wrongly believed that HIV affected only homosexuals and was not an infectious disease. Contaminated clotting factor continued to be distributed.

Between 1981 and 1985, half of the people with hemophilia in the United States contracted HIV from contaminated clotting factor, which was made from pooled plasma from thousands of donors. In Europe, HIV rates in people with hemophilia A reached an estimated 80 percent to 90 percent during this period. Many people with hemophilia began avoiding treatment for bleeds that weren’t very serious. Screening for HIV at blood banks didn’t begin until 1985.

Ryan White, a teenager from Indiana who had severe hemophilia A, acquired HIV after a blood transfusion. White faced discrimination and became a prominent activist for the rights and dignity of those with HIV. He was banned from attending school due to stigma and fear of HIV infection, but his mother fought his case in court and won. On April 8, 1990, Ryan died of an AIDS-related illness at age 18. President George H.W. Bush signed the Ryan White CARE Act into law in August 1990, allocating $2 billion to fight HIV/AIDS.

Today, treating clotting factor concentrates with heat or adding certain ingredients has eliminated the risk of HIV and hepatitis transmission. In 1989, recombinant clotting factor products — lab-created versions of clotting factors that don’t contain human blood — became available. These products offer greater safety and have made use of clotting factors on a prophylactic (preventive) basis more common. With recombinant therapies, children with hemophilia now have life expectancies similar to those without the disease.

How Common Is Hemophilia?

Bleeding disorders are rare. The most common bleeding disorder, von Willebrand disease, is thought to affect about 1 percent of the U.S. population. Up to 33,000 U.S. males have hemophilia, according to the CDC. Around the world, there may be more than 1 million people with hemophilia.

What Race Is Hemophilia Most Common In?

In the U.S., hemophilia is more common in white people than Black or Hispanic people.

What Causes Hemophilia?

Most cases of hemophilia are caused by an inherited gene mutation. Hemophilia can also occur in people without a family history of the disease, which is known as acquired hemophilia. People can develop hemophilia later in life due to certain medical conditions or medications.

Read more about the causes of hemophilia.

What Chromosome Does Hemophilia Affect?

Genetic changes that can result in hemophilia occur on the X chromosome, a sex chromosome. According to Mayo Clinic, females inherit two X chromosomes, one from each parent, and males inherit one X chromosome (from their mother).

Most types of hemophilia are passed on through an X-linked recessive inheritance pattern. Because males get just one copy of the X chromosome, hemophilia is much more common in males than females, according to Mayo Clinic. However, females can be carriers, meaning they carry one copy of the affected gene but don’t have symptoms. Very rarely, females may develop hemophilia if one of their X chromosomes randomly becomes inactivated, a process known as lyonization.

Is Hemophilia Contagious?

Hemophilia and other bleeding disorders are not contagious. Bleeding disorders aren’t passed by infection, and no one can “catch” a bleeding disorder from someone else.

What Are the Symptoms of Hemophilia?

Hemophilia can cause excessive bleeding with minor injuries, surgery, or dental work, as well as bleeds in joints that lead to pain, joint damage, and mobility issues. The condition can also cause spontaneous bleeds in the brain, digestive tract, skin, or almost anywhere in the body. Some people with hemophilia experience fatigue, depression, and anxiety.

Read more about symptoms of bleeding disorders.

How Is Hemophilia Diagnosed?

Severe bleeding disorders are often diagnosed within the first month of life, whereas moderate or mild bleeding disorders may not be identified until later in childhood or even adulthood. Hemophilia can be diagnosed using a range of tests, including blood tests to see if any clotting factors are missing, genetic testing, and tests to measure how long it takes the blood to clot.

Learn more about the process of diagnosing hemophilia.

How Is Hemophilia Treated?

The primary treatment for bleeding disorders involves replacing the missing clotting factors. Most people with hemophilia need regular infusions of clotting factor products to replace the factor missing in their blood. To be effective, these replacement clotting factors must be delivered intravenously (into a vein).

Clotting factors may be given based on different schedules, such as:

• On a regular, maintenance basis (called prophylaxis) to prevent bleeds
• Before, during, or after surgery or dental work to prevent bleeds (called perioperative)
• As needed in the case of injury or other emergencies

Some people with hemophilia develop inhibitors, a serious immune reaction that makes replacement clotting factors much less effective.

Other hemophilia treatments don’t use clotting factors directly. Desmopressin acetate (DDAVP) is a medication that can stimulate the body to release more clotting factors. Emicizumab-kxwh (Hemlibra), a laboratory-made monoclonal antibody, mimics the activity of factor VIII to treat people with hemophilia A. Aminocaproic acid (Amicar) helps prevent blood clots from breaking down and may be given before dental procedures or to manage nose or mouth bleeds.

The U.S. Food and Drug Administration (FDA) has also approved gene therapies for hemophilia A and B, which deliver a working copy of a clotting factor gene. Valoctocogene roxaparvovec-rvox (Roctavian) is approved for hemophilia A, and etranacogene dezaparvovec-drlb (Hemgenix) is approved for hemophilia B.

Read more about treatments for bleeding disorders.

Can You Die From Hemophilia?

With proper treatment, most people with hemophilia have life expectancies similar to those without the condition. However, without access to recommended care, people with hemophilia often have shorter lifespans. Globally, about 75 percent of people with hemophilia have limited or no access to treatment.

Severe complications of hemophilia, such as intracranial hemorrhage (bleeding in the brain), can be life-threatening. Older people with hemophilia may also face risks from infections like HIV or hepatitis, which were more common before blood transfusion and factor replacement testing procedures became standard. However, deaths from these infections have decreased in recent years. Today, most people with hemophilia who receive treatment die of the same common causes as the general population, including cancer and heart disease.

Find Your Team

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