According to the Centers for Disease Control and Prevention, an estimated 400 children in the United States are born with hemophilia each year, making it important to understand this rare, inherited, and dangerous blood disorder. The disease affects one in 5,000 males, and very few females, but it is equally important that both sexes are aware of the symptoms and their own genetic risks, either as patients or as carriers of the disease. Because March is Hemophilia Awareness Month, we at Texas Oncology encourage everyone to know the genetic risks and symptoms of this serious condition.
Hemophilia is a blood disorder in which the blood does not clot properly, leading to extended bleeding. The bleeding caused by hemophilia can be external, especially after cuts on the knees, ankles, and elbows, or internal, damaging organs or tissues. The severity of hemophilia cases can range from mild to life-threatening, and in some cases may lead to permanent conditions such as brain damage.
The disease is caused by a defective gene on the X chromosome. Under normal circumstances, the gene carries information about blood clotting proteins within the body. The defective gene causes a lack of a critical clotting protein, causing abnormal bleeding.
Because women have two X chromosomes, even if one of the genes carries the defect for hemophilia, women still have an additional X chromosome that carries the normal clotting factors to prevent her from having clotting issues. Women who are carriers of the gene can pass it on through birth and, therefore, have a 25 percent chance of having a son with hemophilia. A man with hemophilia will pass the gene on to all of his daughters who will become carriers of hemophilia because the father’s X chromosome determines female gender; however, none of his sons will have hemophilia because the male gender is determined by the Y chromosome.
Girls can be born with hemophilia if the father has hemophilia and the mother is a carrier. Some males are born with hemophilia because of a gene mutation, not because the mother is a carrier. Genetic testing may identify specific risks that you or your family may face.
It’s critical to know the warning signs of hemophilia so that the disorder can be identified as early as possible. Most cases of severe hemophilia are diagnosed in an infant’s first month.
Some symptoms may include profuse bleeding, a tendency to bruise or bleed easily, nose bleeds, unusual menstrual bleeding, blood in the urine or stool, or bleeding from a wound after the wound has appeared to clot. Other symptoms may include bleeding in the joints (key signs are joint tightness, swelling, heat, and pain) and bleeding in the brain (resulting in long headaches, neck aches or stiffness, vomiting, sleepiness, double vision, or seizures). Consult your physician if any of these signs are present.
At Texas Oncology–McAllen, we work with patients fighting cancer and blood disorders, including hemophilia. While there is no cure for hemophilia, people with the disease can enjoy a normal life with the proper treatment. The primary course of treatment utilizes a replacement therapy, which infuses a clotting factor into the blood stream. Other precautionary steps those with hemophilia can take include getting immunized for Hepatitis A and B, taking care of wounds as soon as they happen, maintaining an exercise plan, managing weight, and getting screened often for blood infections.
Until a cure is found, researchers and physicians continue to make advances to better understand and treat hemophilia. Monitoring for symptoms in yourself and your children is the best thing you can do so that the disease can be identified and treated as early as possible.