Hemophilia is usually a genetic disorder characterized by poor blood circulation. This can lead to spontaneous bleeding and bleeding after an injury or surgery. The blood contains a lot of protein called clotting factor that can help stop the bleeding. People with hemophilia have low levels of factor VIII (8) or factor IX (9). The severity of hemophilia in a person is determined by the amount of the factor in the blood. The lower the factor, the greater the likelihood that bleeding will occur which can lead to serious health problems.
In rare cases, a person may develop hemophilia later in life. Most cases involve middle-aged or elderly people or young women who have just given birth or are in the early stages of pregnancy. This condition is usually resolved with appropriate treatment.
Hemophilia is caused by mutations or mutations in one of the genes, which provide instructions on making the protein clotting factor needed to form a blood clot. These changes or modifications can prevent the protein from working properly or completely. These genes are found in the X chromosome. Males have one X chromosome and one Y (XY) and females have two X (XX) chromosomes. Men get the X chromosome from their mothers and the Y chromosome from their fathers. Women inherit one X chromosome from each parent.
- Males have one X chromosome and one Y (XY) and females have two X (XX) chromosomes. Men get the X chromosome from their mothers and the Y chromosome from their fathers. Women inherit one X chromosome from each parent.
- The X chromosome contains many genes that are not on the Y chromosome. This means that males have only one copy of the majority of the genes on the X chromosome, and females have 2 copies. Thus, males may develop a hemophilia-like condition if they receive an affected X chromosome with a mutation in a factor VIII or a gene IX gene. Women can also have hemophilia, but this is very rare. In such cases, both X chromosomes are affected or one is affected and the other is absent or inactive. For these women, the symptoms of bleeding may be similar to those of men with hemophilia.
A woman with one affected X chromosome is the “carrier” of hemophilia. Sometimes a woman with diabetes may have symptoms of hemophilia. In addition, he may be able to pass on the affected X chromosome by genetically modifying clotting factors in his offspring. Learn more about the hereditary pattern of hemophilia.
Although hemophilia runs in families, some families do not have a previous history of family members with hemophilia. Sometimes, there are pregnant women in the family, but no boys are affected, fortunately. However, about one-third of the time, a child with hemophilia is the first in a family to be affected by a genetic mutation.
Hemophilia can cause:
- Bleeding inside the joints can lead to chronic joint pain and pain
- Occasional bleeding in the head and brain that can cause long-term problems, such as fainting and paralysis
- Death can occur if the bleeding does not stop or occurs in an important organ such as the brain.
Healthy Living Tips
- Get a complete annual check-up at a hemophilia treatment center.
- Vaccination — Hepatitis A and B are preventable.
- Treat bleeding early and adequately.
- Exercise and maintain a healthy weight to protect your joints.
- Regularly check for blood-borne pathogens.
There are several different types of hemophilia. The following two are the most common:
Hemophilia A (Classic Hemophilia)
This type is caused by a deficiency or decrease in clotting factor VIII.
Hemophilia B (Christmas disease)
This type is caused by a lack or decrease in clotting factor IX.
Signs and Symbols
Common symptoms of hemophilia include:
- Bleeding from joints. This can cause swelling and pain or congestion in the joints; usually affecting the knees, elbows, and ankles.
- Bleeding on the skin (injury) or soft and soft tissues causes blood clots in the area (called a hematoma).
- Bleeding in the mouth and gums, and bleeding that is hard to stop after losing a tooth.
- Bleeding after circumcision (surgery performed on boys to remove the plaque, called the foreskin, covering the head of the penis).
- Bleeding after a shot, such as vaccination.
- Bleeding in the baby’s head after a difficult birth.
- Blood in the urine or organ.
- Bleeding from the nose is frequent and difficult to stop.
Hemophilia occurs in about one in 5,000 men born. Based on a recent study that used data collected from patients receiving care at hemophilia-sponsored treatment centers during the period 2012-2018, approximately 20,000 men and about 33,000 in the United States were living with the disease. Hemophilia A is about four times more common than hemophilia B, and about half of those affected have a serious condition. Hemophilia affects people of all races and ethnicities.
Many people who have or have family members with hemophilia will ask for their baby boys to be tested immediately after birth.
About one-third of children diagnosed with hemophilia have a new mutation that is not present in other family members. In these cases, the doctor might diagnose hemophilia if the newborn is experiencing symptoms of hemophilia.
To diagnose the disease, doctors performed a blood test to determine if the blood was clotting. If not, they will perform a clotting factor test, also called factor assays, to determine the cause of the bleeding problem. This blood test will show the type of hemophilia and size.