Imagine: what if every wound or cut were life-threatening? For hemophiliacs, that’s a daily reality. Sufferers of the rare disorder—it affects one out of every 5,000 men—are unable to clot blood properly, turning even the slightest scrape into something potentially deadly.
Although treatment has dramatically improved over the past 50 years, the inherited disorder is still often misunderstood. In honor of efforts like World Hemophilia Day to raise global awareness, here are five things everyone should know about this disease.
1) Early History
The first written reference to hemophilia was around 100 A.D. Rabbis noticed that some babies died from blood loss after circumcision, and showing early awareness of the disorder’s heriditary nature—or perhaps simply showing mercy—they began to exempt the practice for boys whose elder brothers had died from the procedure.
Public demands to change the system began with Ryan White, a 13-year-old hemophiliac who contracted HIV from a bad blood transfusion in 1984.
It wasn’t until the 19th century, however, that scientists began honing in the disorder. In 1803, Dr. Conrad Otto, a Philadelphia physician, identified a hereditary bleeding disorder that occured in certain families (which he was able to trace back to a woman who had settled near Plymouth in 1720). By 1823, Johann Schonlein had coined the term “hemophilia” for all bleeding disorders, although the term wasn’t used specifically for inherited disorders until after 1828.
2) Why Men?
Hemophilia is caused by a mutation of a gene located on the X chromosome. Like most recessive gene disorders, it tends to impact men more than women—men only have a single X chromosome; so when they inherit one that is affected, they will be born with the disease.
Conversely, in order for a woman to contract “female hemophilia,” both X chromosomes have to be affected (or one is affected and one is missing or inactive). More often, however, women will inherit a single affected X chromosome and become a “carrier.” For example, Queen Victoria, blamed by many for spreading the “royal disease,” gave birth to a son, Leopold, with hemophilia, and passed the recessive gene to two of her daughters, who then spread the disease through intermarriages with other ruling families in Europe and Russia.
According to Medscape, prior to the 1960s, the average life expectancy for severe hemophiliacs was 11 years of age. By the 1980s, adequate treatment had extended lifespans to 50 to 60 years. Today, with proper treatment, life expectancy for people with hemophilia is about 10 years less than that of males without hemophilia.
The most effective treatment for hemophilia is replacement therapy. Using either synthetic or human blood, clotting concentrates are slowly dripped or injected into the veins, replacing clotting factor that is missing or low. Demand therapy, where the clotting factor is injected to combat blood loss, is less intensive and expensive than preventive therapy. However, there’s always a risk that bleeding will cause damage before demand therapy can be received.
4) Hemophilia and AIDS
Starting in the 1980s, the primary leading cause of death for hemophiliacs shifted from blood loss to HIV/AIDS infections caused by contaminated blood transfusions. In 1988, The New York Times reported that up to 70 to 90 percent of the most severe hemophiliacs had contracted the virus.
Public demands to change the system began with Ryan White, a 13-year-old hemophiliac who contracted HIV from a bad blood transfusion in 1984. Given just six months to live and banned from his school by wary parents, White lived six more years and teamed up with celebrities like Michael Jackson and Elton John to urge for safer screening and dispel many of the myths about HIV. Today, the Ryan White Care Act provides a federally funded program for people living with HIV.
5) How to Help
According to the World Federation of Hemophilia, an estimated one in 1,000 women and men has a bleeding disorder of some kind. Despite advances in treatment, 75 percent of sufferers around the world still receive inadequate treatment or no treatment at all.
This World Hemophilia Day, the WFH is asking people to spread the message and “Close the Gap” for patient care around the world. As part of its efforts, the WFH is asking people to send stories of how they or their organization celebrated the event—you can send your updates and photos to firstname.lastname@example.org by May 18. In addition, you can also post photos of you and your friends wearing red on the World Hemophilia Day Facebook page. Photos will be selected from the submissions and used for a poster that will be displayed at the WFH 2012 World Congress