Hemophilia – An Overview | MyHemophiliaTeam

Connect with others who understand.

sign up Log in
Resources
About MyHemophiliaTeam
Powered By

Hemophilia – An Overview

Medically reviewed by Todd Gersten, M.D.
Written by Kelly Crumrin
Updated on May 10, 2021

Hemophilia is a rare bleeding disorder usually caused by certain genes. Most often, hemophilia genes are passed down in families, although some hemophilia cases are the result of a random genetic mutation. Because of the way the gene for hemophilia is inherited, the majority of people with hemophilia are boys and men. Girls and women are more likely to be carriers of the gene for hemophilia, but some have bleeding symptoms themselves. Von Willebrand disease (VWD), a more common bleeding disorder, affects men and women in equal numbers. In some cases, bleeding disorders can be acquired later in life rather than congenital (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 of hemophilia, but it can also cause pain, fatigue, depression, and joint damage that interferes with mobility. On average, people with hemophilia have similar lifespans as people without hemophilia.

What Is Hemophilia?

Blood clots by a complex process called the coagulation cascade. The coagulation cascade involves many different proteins called factors. Each factor plays a vital role in blood clotting. If any one of these factors is deficient or ineffective, blood cannot clot correctly, and dangerous bleeds may result. In hemophilia and related bleeding disorders, the body either makes too little of a clotting factor or makes an abnormal, ineffective version of the factor. You will usually see Roman numerals in any discussion of clotting factors.

The three most common types of bleeding disorders are von Willebrand disease (lacking von Willebrand factor, or VWF), hemophilia A (lacking factor VIII, or 8), and hemophilia B (lacking factor IX). Less prevalent bleeding disorders include deficiencies in factors I, II, V, VII, X, XI, XII, and XIII. Hemophilia symptoms can be mild, moderate, or severe. The more deficient a person is in a clotting factor, the more severe their hemophilia 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 subsequently married into the royal families of Spain, Germany, and Russia. Several of Queen Victoria’s descendants died young due to hemophilia. The current British royal family does not carry hemophilia.

Life expectancy in the early 1900s for a person with hemophilia was 27 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 English hematologist Rosemary Biggs. Biggs named the bleeding disorder after her patient, Stephen Christmas, who was 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 process for freezing and thawing plasma to collect the top layer of clotting factor, called cryoprecipitate. Combined with the development of freeze-dried clotting factor and concentrated clotting factor in the early 1970s, these breakthroughs enabled those with hemophilia to infuse clotting factor independently at home.

The demand for plasma continued to rise. Clotting factor concentrates were made by combining plasma from as many as 20,000 donors and distributing the treatment in bulk. During the 1970s and 1980s, there was very little donor screening or testing. Most of the people with hemophilia receiving clotting factor concentrates during this time were infected with hepatitis. Many doctors considered this an acceptable risk because of the increased life expectancy and quality of life the concentrates afforded people with living with hemophilia.

What doctors didn’t anticipate, however, was the spread of HIV and AIDS. In the early 1980s, doctors recorded several cases of AIDS in hemophilia patients. In 1982, the nonprofit World Federation of Hemophilia presented evidence to the Centers for Disease Control (CDC) and blood banking companies that AIDS 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 AIDS only affected homosexuals and was not an infectious disease. Contaminated clotting factor continued to be distributed.

Between 1981 and 1985, half of the population of hemophilia patients in the U.S. was infected with AIDS by contaminated clotting factor, which contained pooled plasma from thousands of donors. AIDS rates in the European hemophilia A population was estimated to be as high as 80 to 90 percent during this time. Many people with hemophilia stopped treated bleeds unless they were very serious. Screening for AIDS/HIV would not begin at blood banks until 1985.

Ryan White, a teenager from Indiana with 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 AIDS. White 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, exposing clotting factor concentrates to heat or adding certain ingredients has eliminated the risk of the transmission of HIV and hepatitis. Recombinant clotting factor products became available in 1989. These products are safer because they are a clone of clotting factor and do not actually contain human blood. Prophylactic use of clotting factor became common with the availability of recombinant products. Today, the life expectancy of a child with hemophilia is similar to that of someone without the disease.

How Common Is Hemophilia?

Bleeding disorders are rare. Von Willebrand disease is the most common bleeding disorder, thought to affect about 1 percent of the U.S. population. Approximately 20,000 people in the United States have a form of hemophilia. Around the world, there may be 400,000 people with hemophilia. Some bleeding disorders are more common in males than in females.

Condition Guide

Updated on May 10, 2021
All updates must be accompanied by text or a picture.

Become a Subscriber

Get the latest articles about hemophilia sent to your inbox.

This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.
Todd Gersten, M.D. is a hematologist-oncologist at the Florida Cancer Specialists & Research Institute in Wellington, Florida. Review provided by VeriMed Healthcare Network. Learn more about him here
Kelly Crumrin is a senior editor at MyHealthTeam and leads the creation of content that educates and empowers people with chronic illnesses. Learn more about her here

Related Articles

Before the 1960s, it was rare for people with hemophilia to live past the age of 60. Today, the l...

Hemophilia B Prognosis: What Is the Life Expectancy?

Before the 1960s, it was rare for people with hemophilia to live past the age of 60. Today, the l...
Hemophilia A is a rare bleeding disorder caused by a genetic mutation (change). Many people with ...

Who Gets Hemophilia A? Does Race, Sex, or Age Matter?

Hemophilia A is a rare bleeding disorder caused by a genetic mutation (change). Many people with ...
Hearing the word “severe” to describe your or your child’s hemophilia can sound alarming. You may...

How Severe Is Your Hemophilia? 5 Things To Know

Hearing the word “severe” to describe your or your child’s hemophilia can sound alarming. You may...
Life expectancy with hemophilia A has increased from 20 to 30 years in the 1960s to over age 70 i...

Hemophilia A Prognosis: What Is the Life Expectancy?

Life expectancy with hemophilia A has increased from 20 to 30 years in the 1960s to over age 70 i...
Hemophilia is sometimes called “the royal disease” because of its presence among members of Europ...

Who Gets Hemophilia B? Why Race, Sex, and Age Matter

Hemophilia is sometimes called “the royal disease” because of its presence among members of Europ...
Hemophilia A and hemophilia B are two types of hemophilia that produce similar symptoms and are d...

Hemophilia A vs. B

Hemophilia A and hemophilia B are two types of hemophilia that produce similar symptoms and are d...

Recent Articles

Welcome to MyHemophiliaTeam — the place to connect with others living with hemophilia. This vide...

Getting Started on MyHemophiliaTeam (VIDEO)

Welcome to MyHemophiliaTeam — the place to connect with others living with hemophilia. This vide...
In the past two years, gene therapy has become available for some people with hemophilia A and he...

Hemophilia Gene Therapy: 7 Things To Consider

In the past two years, gene therapy has become available for some people with hemophilia A and he...
If you or someone you love is living with severe hemophilia A or hemophilia B, you’re likely well...

7 Ways To Protect Your Joints With Severe Hemophilia

If you or someone you love is living with severe hemophilia A or hemophilia B, you’re likely well...
One of the first symptoms of a bleeding disorder like hemophilia is often bruising easily. Bruise...

Hemophilia Bruising: Pictures and What To Know

One of the first symptoms of a bleeding disorder like hemophilia is often bruising easily. Bruise...
Your body loses essential nutrients, particularly iron, every time you bleed. While there’s no sp...

Hemophilia Diet: 3 Foods To Eat and 2 To Avoid

Your body loses essential nutrients, particularly iron, every time you bleed. While there’s no sp...
Bleeding emergencies can occur at any time when you’re living with a severe bleeding disorder. Ev...

6 Things That Should Be in Your Hemophilia Emergency Kit

Bleeding emergencies can occur at any time when you’re living with a severe bleeding disorder. Ev...
MyHemophiliaTeam My hemophilia Team

Thank you for subscribing!

Become a member to get even more:

sign up for free

close
MyHemophiliaTeam
Add to your home screen
MyHemophiliaTeam Tap below and then 'Add to Home Screen'