Don't you also have a small cut that stops bleeding? Let's talk about hemophilia!

When you get a small wound or get hit somewhere, the bleeding stops after a while, right? That's because of the natural process of blood clotting in our body. But think about it, some people don't stop bleeding this easily. Even with a small wound, they bleed for a long time. The body turns blue and bruises. The cause of this condition can be a disease called hemophilia. Although many people don't know exactly about this, this is something important that we should know. Let's talk about this simply, in a way that you can understand.

What exactly is hemophilia?

Simply put, hemophilia is a rare condition in which our blood does not clot properly. Our blood contains special proteins that help stop bleeding when it starts. We call these "clotting factors." Just like mortar is needed to hold bricks together when building a wall, these clotting factors are essential to stop bleeding.

A person with hemophilia does not produce enough of one or more of these clotting factors. This means that even a small cut can cause prolonged bleeding. Sometimes, bleeding can occur inside the body, especially in the joints and muscles. This can be life-threatening.

Doctors divide the severity of this disease into three categories, depending on the amount of clotting factors in the blood.

• Mild hemophilia: Bleeding usually occurs after a major injury or surgery.
• Moderate hemophilia: Even minor injuries can cause excessive bleeding. The body may even turn blue.
• Severe hemophilia: Bleeding may occur internally and externally, even for no apparent reason.

Although there is no complete cure for this, with the new treatments available, it is possible to control bleeding and lead a largely normal life.

Are there main types of hemophilia?

Yes, there are three main types of this disease. They are based on the type of clotting factor that is lacking in the body. To understand this clearly, see the table below.

What are the symptoms of this disease?

The main symptoms of hemophilia are unusual or excessive bleeding and bruising. The severity of these symptoms depends on whether you have mild, moderate, or severe hemophilia.

Excessive Bleeding

Imagine, you suddenly have a nosebleed for no reason. Or even a small cut on your finger or after surgery, the bleeding doesn't stop for a long time. If a small baby has this condition, they may even put a toy in their mouth and bleed.

Bruising

Our skin turns blue when blood flows under it. People with hemophilia can turn blue and bruise easily, even if they get hit by something small. If a small baby hits their head somewhere, they can develop large lumps called "goose eggs."

Joint Pain and Swelling

This is the most serious complication of hemophilia. Bleeding can occur inside the body, especially in the joints like the knees, elbows, and ankles. The joints then become swollen, painful, and warm to the touch. When this happens to young babies, they may cry continuously, refuse to kneel, or walk.

What causes hemophilia?

Hemophilia is often a genetic disease that is passed down from generation to generation.That means it is caused by a change in the genes we inherit from our mother or father. Let's understand this a little more simply.

Our bodies are instructed to make clotting factors by genes. When there is a change or defect in these genes, those instructions don't work properly. The result is that the body doesn't produce the amount of clotting factors it needs.

This genetic defect is located on the X chromosome.

• A girl has two X chromosomes (XX), one from her mother and one from her father.
• A boy has one X chromosome and one Y chromosome (XY). The X comes from the mother and the Y comes from the father.

Now look at how this goes down through the generations:

• If a mother carries an X chromosome with this defective gene (we call it a 'carrier'), she usually doesn't show symptoms because she has the other healthy X chromosome.
• If this mother's son inherits the defective X chromosome, he will develop hemophilia because he has no other healthy X chromosome to control it.
• If this mother's daughter inherits the defective X chromosome, she will also become a carrier. She may show mild symptoms, such as heavy menstrual bleeding.

Sometimes, hemophilia can develop spontaneously, without being inherited, as a result of a spontaneous gene change during fetal life. Also, very rarely, it can occur when a person's immune system attacks their own clotting factors. We call this 'acquired hemophilia'.

How does a doctor diagnose this?

If you or your child has these symptoms, your doctor will first examine you and ask if anyone in your family has had these conditions. Then, they will order some blood tests to confirm this.

• Complete Blood Count (CBC): Measures the types and amounts of cells in your blood.
• Prothrombin Time test (PT): Checks how long it takes for your blood to clot.
• Partial Thromboplastin Time test (PTT): This is another test that measures blood clotting time.
• Specific Clotting Factor Tests: This is what determines exactly which clotting factor you are deficient in and how low it is.

What are the treatments for this?

The treatment you receive will depend on the type of hemophilia you have and the severity of your condition. The main treatment is replacement therapy.

Simply put, this involves giving your body a shot of a clotting factor that is low in your blood. These clotting factors can be made from human blood plasma or made in a laboratory. This treatment can help prevent bleeding and stop it quickly if it does occur.

In addition, there are now several new treatments:

• Drugs like Marstacimab-hncq (Hympavzi®) and Concizumab (Alhemo®) : These block a protein that prevents blood clotting and stimulate an enzyme that helps blood clot.
• Fitusiran (Qfitlia®): This drug stops our liver from making a substance (antithrombin) that prevents blood from clotting.
• Gene Therapy: This is the most advanced treatment method. In this, a healthy gene is inserted into the body to replace the defective gene, allowing the body to produce the necessary clotting factors.

When should you seek immediate medical advice?

If you notice any changes in your body, such as increased bleeding or bruising, tell your doctor immediately. Also, if you experience any of the following serious symptoms, go to a hospital's Emergency Department (ETU) without delay.

Things to know when living with hemophilia

Hemophilia is a lifelong, or chronic, disease. So you will need medical care and monitoring throughout your life. But don't worry. With new treatments, a person with hemophilia can live a life that is close to that of someone without the disease.

Here are some things that can help you feel better while living with this disease:

• Control your weight: As you gain weight, the pressure on your joints increases. Maintaining a healthy weight is important to protect joints that are already damaged due to bleeding inside the joints.
• Take good care of your teeth: It is important to brush your teeth well and take care of your dental health. Because procedures like tooth extractions and root canals can cause bleeding, it is best to avoid them.
• Consider mental health: Living with a chronic illness can lead to anxiety and depression. Talk to your doctor about this and seek mental health counseling if necessary.
• Be active safely: Engaging in activities that reduce the risk of injury is good for your body and mind. Ask your doctor what exercises are right for you.

When you have hemophilia, even a small injury that others may not notice can be a big problem for you. A knee bump on a table leg can cause bleeding into a joint. A nosebleed can be unstoppable even after a hard sneeze. Living with this condition can be challenging. But remember, you are not alone. Your medical team is always there to help you.