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Understanding Hemophilia and What to Expect

A girl held on to her injured keen while an adult is putting the bandage.

Understanding Hemophilia and What to Expect

Bumps, bruises, scrapes, and cuts are inevitable, and part of everyday life. However, for those living with hemophilia, bleeding injuries are a significant concern. Hemophilia affects one in 5,000 males in the United States, according to hemophilia.org. Thousands of women are also affected by the disease, either as a carrier or as a patient. With research and the advancement in factor replacement products, treatment has become much more reliable and effective.

 

What is hemophilia?

Hemophilia is a rare bleeding disorder that is passed down at birth. Those diagnosed with this genetic disease have insufficient amounts of clotting factor which prolongs the length of a bleeding episode. In other words, their bodies take longer to heal a wound because of their blood’s inability to clot. Those with mild hemophilia may experience prolonged bleeds after injuries or cuts. However, those with moderate to severe hemophilia may experience spontaneous bleeding, especially in the joints and muscles, which can cause crippling pain.

 

Diagnosing hemophilia

DNASince hemophilia is a genetic disease, most hemophilia patients are diagnosed within one to 36 months of birth. Although a majority of hemophilia diagnosis come from children with a history of the disease, approximately one-third of babies born with hemophilia come from families with no known history. Contrary to popular belief, hemophilia can affect both men and women, although it is more common in men. This unique occurrence is the result of a woman inheriting two defective X chromosomes.

It’s crucial for parents who have a family history of hemophilia to inform their obstetrician so proper measures can be taken to ensure a safe delivery and so that the baby can be tested for the disease if symptoms are present. Additionally, women with a family history of hemophilia may want to test if they are a carrier of the disease, and if bleeding issues are present, request to test for hemophilia. 

 

Living with hemophilia

People with hemophilia will need to take extra care in preventing bleeds by avoiding injuries and staying healthy. It’s highly recommended for those with hemophilia to manage their weight through diet and exercise to protect joints and strengthen muscles. When choosing physical activities, doctors recommend avoiding contact sports, especially those with high injury rates like boxing or football.

Part of living with hemophilia includes managing your disease with proper treatment with the help of specialized doctors and facilities. Factor therapy, which involves infusing clotting factor into the bloodstream intravenously, is a common way to prevent bleeds and help shorten the length of a bleed. Prophylaxis, or preventative treatment, is often given several times a week, depending on a patient’s needs. This type of therapy aims to maintain healthy clotting factor levels.

A person diagnosed with hemophilia can expect to live well into late adulthood with proper treatment and healthy living. This includes treating bleeding episodes quickly, especially internal bleeds, and seeking help from hematologists and hemophilia treatment centers (HTCs).

 

Is there a cure for hemophilia?

There is no known cure for hemophilia at present. However, scientists are currently exploring gene therapy to replace genes that are prohibiting clotting factor production. In rare instances, liver transplants have been successful at curing hemophilia, as clotting factor is produced in the liver. However, this high-risk procedure is not a recommended cure for hemophilia. Until a cure is available, factor therapy is the most reliable form of treatment.

As a hemophilia patient, managing your health is of utmost importance. By seeking the care you need and living a healthy lifestyle, you can expect to live a full, long life.