Hemophilia is a genetic disorder of the blood which results in abnormal bleeding and faulty clotting. The testing of clotting factors in the blood confirms the presence of the disease. Symptoms appear around the age of two and broadly vary depending on the level of clotting factors. This article discusses the most common signs and treatment options of hemophilia.

Symptoms of hemophilia

1. Unexplained and excessive bleeding

Excessive bleeding can happen after cuts and injuries, surgery, dental work, and even vaccinations. Those with hemophilia need to be careful and avoid injury. Nosebleeds, bleeding gums, and blood in urine and stools can also occur for no apparent reason.

2. Bruises

Even little accidents can result in large build-ups of blood, causing swelling, also called a hematoma.

3. Internal bleeding

Clotting problems can also cause internal bleeding. The lower body is most frequently affected, including organs like the hips, knees, and ankles. Sometimes, a build-up in the elbows is also possible. The excess pools of blood can cause swelling. Bleeding in large muscles can cause aches and pains too. Increased pressure in joints and muscles can cause permanent damage and deformity.

4. Bleeding into the brain

A simple bump can cause a build-up of large amounts of blood in the brain. It can lead to severe complications like prolonged headaches, constant vomiting, sleeplessness, weakness, lack of coordination, lethargy, and convulsions.

5. Heavy menstruation

In women, hemophilia can also result in unusually heavy bleeding during menstrual periods. It can be uncomfortable and disturb everyday activities. Cramping related to internal bleeds may also intensify menstrual cramps.

Hemophilia symptoms can be mild, moderate, or severe, depending on the clotting factor percentage. Between 6 and 40 percent of the standard reading is considered mild hemophilia. A clotting factor between 1 and 5 percent is moderate, and less than 1 percent is severe.

Treatments for hemophilia

The condition has no cure, but many treatments can control the disorder. Some of them include:

1. Blood transfusion

Since the most common sign of hemophilia is excessive bleeding, the standard treatment procedure involves blood transfusion. Even the most simple medical techniques and accidents cause bleeding. Hence, blood loss must be reversed using transfusions.

2. Replacement therapy

Concentrates of clotting factors VIII and IX for hemophilia A and B are administered intravenously when there is a risk of bleeding. One can schedule replacement therapy regularly, or the treatment can be on a demand basis. It can be a preventive measure not to delay clotting when bleeding occurs.

3. Medication
Desmopressin is the most common medication. It can be administered intravenously and works by releasing von Willebrand antigens from platelets. This medication’s side effects include fluid retention, nausea, headaches, elevated heart rate, and in rare cases, seizures and undesired blood clots. Another option is antifibrinolytic medication. As the name suggests, it prevents fibrinolysis, the process by which blood clots break down. This medication is usually in oral pill form. This drug’s side effects include nausea, joint and muscle pain, fatigue, migraines, and eye irritation.

Hemophilia is an X-linked recessive disorder, which means that men are more at risk. For a woman to be affected, her mother must be a carrier, and her father must also have the disease. A carrier is someone who has a defective gene but does not have the condition. However, carriers may show abnormal bleeding as well.

One cannot escape hemophilia if it is in their genes, but it can be managed. The key to living with hemophilia is to be careful with injuries. It is also essential to consistently monitor the clotting factors and find the right medication with a doctor’s help.