Definition
Hemophilia is typically an inherited bleeding disorder caused by blood not clotting properly. This can lead to spontaneous bleeding as well as bleeding following injuries or surgery. Blood contains many proteins called clotting factors that can help to stop bleeding. People with hemophilia have low levels of either factor VIII (8) or factor IX (9). The severity of your hemophilia will be determined by the number of factors in your blood. The lower the amount of the factor, the more likely it is that bleeding will occur which can lead to serious health problems.
In rare cases, a person can develop hemophilia later in life. The majority of cases involve middle-aged or elderly people, or young women who have recently given birth or are in the later stages of pregnancy.
According to the CDC, hemophilia is less common among Blacks.
Causes
The X chromosome contains many genes that are not present on the Y chromosome. This means that males only have one copy of most of the genes on the X chromosome, while females have 2 copies. This means males can have a disease like hemophilia if they inherit an affected X chromosome that has a mutation in either the factor VIII or factor IX gene. Females can also have hemophilia, but this is much rarer. In such cases, both X chromosomes are affected or one is affected and the other is missing or inactive. In these females, bleeding symptoms may be similar to males with hemophilia.
A female with one affected X chromosome is a “carrier” of hemophilia. Sometimes a female who is a carrier can have symptoms of hemophilia. In addition, she can pass the affected X chromosome with the clotting factor gene mutation on to her children.
Even though hemophilia is genetic, some families may have no prior history of family members with hemophilia. Sometimes, there are carrier females in the family, but no affected boys. However, about one-third of the time, the baby with hemophilia is the first one in the family to be affected by a mutation in the gene for the clotting factor.
Symptoms
The most common symptoms of hemophilia include:
- Bleeding into the joints. This can cause swelling and pain or tightness in the joints; it often affects the knees, elbows, and ankles.
- Bleeding into the skin (which is bruising) or muscle and soft tissue causing a build-up of blood in the area (called a hematoma).
- Bleeding of the mouth and gums, and bleeding that is hard to stop after losing a tooth.
- Bleeding after circumcision (surgery performed on male babies to remove the hood of skin, called the foreskin, covering the head of the penis).
- Bleeding after having shots, such as vaccinations.
- Bleeding in the head of an infant after a difficult delivery.
- Blood in the urine or stool.
- Frequent and hard-to-stop nosebleeds.
Diagnosis
Those who have or have had family members with hemophilia should ask that their child get tested soon after birth. In about one-third of babies who are diagnosed with hemophilia, there is a new mutation that is not present in other family members. In these cases, a doctor will check for hemophilia if a newborn is showing symptoms of hemophilia. Doctors will make a diagnosis by performing certain blood tests to see if the blood is clotting properly. If not, they will do clotting factor tests, also called factor assays, to diagnose the cause of the bleeding disorder. These blood tests would also show the type of hemophilia and the severity.
Treatments
The best way to treat hemophilia is to replace the missing blood clotting factor so that the blood can clot properly. This is done by infusing (administering through a vein) commercially prepared factor concentrates. If you have hemophilia, you can learn how to perform these infusions yourself so that the bleeding episodes can stop. If you perform the infusions on a regular basis (called prophylaxis), you can even prevent most bleeding episodes.
It is important to find the right medical team if you have hemophilia because they can help prevent more serious complications from developing. In most cases, the best choice for care is a comprehensive Hemophilia Treatment Center (HTC). An HTC can not only provide care to address all the issues related to the disorder, but also provide health education that will help you stay healthy.