Do you bleed a lot from a small cut? Let's talk about hemophilia

Have you ever felt like you or someone in your family bleeds uncontrollably when you get a small cut? Or do you get big blue spots on your body even after a slight injury? Don't dismiss these things as normal. Because, this could be a symptom of a condition called hemophilia . Don't worry, we'll talk about everything in simple terms today.

Simply put, what is hemophilia?

Hemophilia is a genetic condition that affects the way our blood clots . Normally, when we get hurt, the bleeding stops after a while. This is because special proteins in our blood (called clotting factors ) work together to form a blood clot. However, people with hemophilia lack one of these proteins that help the blood clot. This is why bleeding doesn't stop easily when we get hurt.

There are two main types of hemophilia.

In addition, there is a very rare type called hemophilia C. It is caused by a deficiency of Factor XI.

What are the symptoms of hemophilia?

Symptoms vary depending on the severity of the condition. Sometimes bleeding can occur for no apparent reason. These symptoms can be easily recognized, especially in young children .

Symptoms seen in young children and babies:

• Bleeding into the head at birth: Some babies may have bleeding inside the head at birth.
• Swelling of joints when starting to walk: You should be concerned if your child's joints, such as knees and elbows, are swollen and blue as soon as they start to walk or crawl.
• Big blue spots even from a small bruise: Even a small bump can cause large, dark blue spots to appear on the body.
• Frequent nosebleeds and gum bleeding: Frequent bleeding from the gums during teething or when brushing the teeth.
• Blood in the urine or stool.

A person with mild hemophilia may not show any symptoms until adulthood. The condition is sometimes discovered when there is excessive bleeding during a minor procedure, such as a tooth extraction.

How does this disease occur?

This may seem a bit complicated, but it's simple to understand. Hemophilia is a genetic disease . This means it's caused by a defect in the genes that come from either the mother or the father.

• From mother to son: The defective gene that causes hemophilia is on the X chromosome. A male child (son) receives an X chromosome from the mother and a Y chromosome from the father. So if the mother is a carrier of the disease, meaning that she has this defect on one of her X chromosomes, there is a 50% chance that her son will receive the defective X chromosome from her. If that happens, the son will develop hemophilia.
• Females (daughters) become carriers: A female child receives two X chromosomes (one from her mother, one from her father). Even though she receives the defective X chromosome from her mother, she usually does not develop the disease because of the healthy X chromosome from her father. However, they become carriers of the disease . This means that they can pass the disease on to their children.
• If the father has hemophilia: A father with hemophilia will never pass the disease on to his sons because sons only inherit the Y chromosome from their father. However, since all of his daughters inherit the defective X chromosome from him, all of those daughters will be carriers of the disease.

Sometimes, a child can develop the disease through a spontaneous mutation, even if no one in the family has hemophilia.

How to diagnose the disease? (Diagnosis)

This condition is usually diagnosed shortly after birth. It can be diagnosed by looking at a family history, or if the baby has unusual bleeding. It can even be tested for by taking a blood sample from the umbilical cord after the baby is born.

If you or your child has these symptoms, see a doctor immediately. The doctor will first ask if anyone in your family has this condition. Then they will do some blood tests.

• Blood clotting tests: These check how quickly and well your blood clots.
• Factor Assay: If a problem is detected, this test can determine exactly which type of hemophilia you have (A or B) and how severe it is.

What are the treatments?

There is nothing to fear, there are very effective treatments for hemophilia today. The main goal is to restore the blood clotting factor that is lacking in the body.

• Clotting Factor Replacement: This is the main treatment. Factor VIII is given intravenously for hemophilia A and Factor IX is given intravenously for hemophilia B. This can be done in the hospital, or you can be trained to do it at home.
• Hormone therapy: Desmopressin is a medication given to treat mild hemophilia A. It works by stimulating the body to release Factor VIII. It is available as an injection or as a nasal spray.
• Anticoagulants: These medications work by stopping a blood clot from dissolving too quickly. They are used in situations such as tooth extractions.
• Physical Therapy: Frequent bleeding into joints can cause them to lose their mobility. Physical therapy can help restore the function of those joints.

Complications that may occur due to hemophilia

If proper treatment is not received, some complications can occur, especially in severe cases of hemophilia.

• Joint damage: Frequent bleeding into joints such as knees, elbows, and ankles can cause them to become permanently deformed, painful, and difficult to move.
• Bleeding into the brain: This is the most dangerous complication. Bleeding into the brain can occur as a result of a head injury or, in some severe cases, for no apparent reason. This can cause permanent disability or even death. If you have a severe head injury, go to a hospital's Emergency Department (ETU) immediately.
• Difficulty breathing: If there is bleeding in the throat area, swelling may cause difficulty breathing.

If you are planning to have a child and have a family history of hemophilia, you can get genetic counseling. This can help you find out if you are a carrier and what your risk is for your child. It is also possible to select a healthy embryo and implant it in your uterus through methods such as in-vitro fertilization.

Hemophilia, blood clotting, excessive bleeding, genetic diseases, Factor VIII, Factor IX, joint swelling