Doesn't your little wound stop bleeding? Shall we talk about hemophilia?

Do you remember when you were a kid, when you fell and sprained your knee or elbow, the bleeding would just stop after a while? Isn't that amazing? When we bleed, our bodies have a system to stop it, which is a system that makes blood clot. But there are some people, and this blood clotting process doesn't work properly in their bodies. That's when we talk about a condition called hemophilia . This can be a bit serious, but with proper management, it's a condition that can be treated well.

What exactly is hemophilia?

Simply put, hemophilia is a condition in which our blood does not clot properly, meaning that when we bleed, it does not stop easily . It is mainly a genetic disease , meaning it can be passed down through genes from generation to generation.

Imagine you have a small cut on your hand. Normally, certain proteins in our blood, called clotting factors , work together to close the wound and stop the bleeding. It's like patching a hole in a wall.

But in a person with hemophilia, one of these clotting factors is missing in sufficient quantities, or the factor doesn't work properly. That's the problem. That's why they can bleed for a long time even from a small injury, or they can bruise easily.

How blood clots simply

When we start bleeding, there are several steps to stop it.

1. The first thing that happens is that the blood vessels constrict. Then the amount of blood flowing out decreases slightly.

2. Then, tiny cells called platelets in our blood come to the site of the injury and stick together, forming a kind of small dam.

3. Next, the clotting factors I mentioned earlier are activated, working one after the other, forming a strong mesh called fibrin , further strengthening the platelet barrier and completely stopping the bleeding.

What happens in hemophilia is that in this third step, one of the clotting factors is missing, so that strong clot doesn't form.

Are there types of hemophilia?

Yes, there are two main types of hemophilia, depending on which clotting factor is deficient.

Hemophilia A

This is the most common type of hemophilia. It is caused by either not having enough clotting factor VIII or by it not working properly.

Hemophilia B

This type is also called Christmas Disease . It is caused by either not having enough of the ninth blood clotting factor (Factor IX) , or by it not working properly.

The symptoms of both types are very similar. However, it is very important to identify these two types accurately when treating them. Because treatment should be given according to the factor that has decreased.

The seriousness of this situation

The severity of hemophilia can vary from person to person, depending on how much of the deficient clotting factor is present in the body.

• Mild hemophilia: People with mild hemophilia have slightly lower than normal blood clotting factors. They may only bleed for a short time if they have a major injury, surgery, or a tooth extraction. They may not even know they have hemophilia until something serious happens.
• Moderate hemophilia: These people have even fewer clotting factors. They may bleed excessively from even minor injuries. Sometimes, they may bleed for no reason (spontaneous bleeding).
• Severe hemophilia: These people have very low levels of blood clotting factors. They can bleed into joints and muscles for no apparent reason. Even the smallest bruise can cause a big problem.

Why does this happen? What are the reasons?

Hemophilia is often a genetic condition , meaning it is passed down from parents to children through genes.

How it comes from inheritance (X-linked inheritance)

The gene for hemophilia is on the X chromosome. You know, females have two X chromosomes (XX), while males have one X chromosome and one Y chromosome (XY).

• A female child: Gets one X from her mother and one X from her father.
• A male child: Gets one X from the mother and one Y from the father.

Now, if the defective gene that causes hemophilia is on the X chromosome,

• If a boy inherits that defective X chromosome from his mother, he will develop hemophilia. Because he only has one X chromosome. If there is a defect on it, there is no other X to compensate for it.
• If a girl inherits a defective X chromosome from either her mother or father, but has a healthy X chromosome, she will not show symptoms. But she will be a carrier . This means that even if she does not have hemophilia, she can pass the defective gene on to her children. Very rarely, female carriers can also show mild symptoms.

That's why hemophilia most often occurs in men .

Imagine, if a mother is a carrier of hemophilia, every male child born to her has a 50% chance of developing hemophilia. Likewise, every female child has a 50% chance of being a carrier.

Does it run in families? (Spontaneous mutations)

It is not always necessary for someone in the family to have hemophilia. Sometimes, in about 30% of cases, hemophilia can occur as a spontaneous mutation in a gene. In that case, no one else in the family may have had the condition before.

What are the symptoms of hemophilia? How is it diagnosed?

The symptoms of hemophilia vary depending on the severity of the condition. Common symptoms include:

• Frequent occurrence of large, deep bruises: Even a small bump can cause a large bruise.
• Continuous bleeding from an injury, a tooth extraction, or after surgery.
• Nosebleeds for no reason.
• Bleeding gums.
• Bleeding into the joint (hemarthrosis): This is very painful. The joint becomes swollen, hot, and unable to move properly. Joints like the knees, elbows, and ankles are most commonly affected. In the long run, this can also cause joint damage.
• Bleeding into the muscle: This also causes pain and swelling.
• Bleeding with urine or stool.
• For infants: Sometimes the first sign is persistent bleeding after circumcision. Or after an injection, the area may become very swollen and bleed.
• A very serious, but rare, condition is bleeding into the brain. This can cause symptoms such as a severe headache, vomiting, drowsiness, and seizures. This is an emergency.

How does a doctor determine that this is hemophilia? (Diagnosis)

If you or your child has any of these symptoms, the best thing to do is to see a doctor. A doctor will usually make a diagnosis in the following ways:

1. Asking about family history: Checking to see if anyone in the family has hemophilia or other bleeding problems.

2. A physical examination is performed: Checking for bruises, swollen joints, etc.

3. Blood tests are done:

• Screening tests: These measure how long it takes for blood to clot. For example, tests like PTT (Partial Thromboplastin Time) and PT (Prothrombin Time) . PTT values ​​may be prolonged in hemophilia.
• Clotting factor assays: These are used to determine whether Factor VIII and Factor IX are deficient, and to what extent. This is used to determine the type and severity of hemophilia.

Even during pregnancy, if there is a family history of hemophilia, tests can be done to see if the baby has hemophilia.

What are the treatments for this? (Treatment)

Although hemophilia is a condition that cannot be cured, there are very effective treatments that can help control and prevent bleeding, and help people live a full life.

Replacement Therapy

This is the main treatment. It involves giving the body a blood clotting factor (Factor VIII or Factor IX) that is deficient in the body through a vein (intravenous or IV infusion). These factors are made either from human blood plasma or through genetic technology (recombinant products).

This treatment is done in two ways:

1. Prophylactic therapy: In this, the factor is given to the body several times a week, before a bleed occurs. This can prevent sudden bleeding, especially into the joints. This is most often done for people with severe hemophilia.

2. On-demand therapy: In this, the factor is given only after a bleed has started. This treatment is used for people with mild hemophilia and those who are not on preventive therapy.

Other medications

• Desmopressin (DDAVP): This is a medication that can be used for people with mild hemophilia A. It works by releasing stored Factor VIII in the body. It can be given as a nasal spray or as an injection.
• Antifibrinolytic drugs: For example , tranexamic acid . These drugs work by slowing the dissolution of a blood clot. They are useful in situations such as tooth extractions and nosebleeds.
• Painkillers: You can take things like paracetamol to relieve the pain that comes with bleeding in the joints. However, medications like aspirin and NSAIDs (e.g., ibuprofen, diclofenac) are not recommended for people with hemophilia, as they can increase the risk of bleeding.

What do you do when you bleed?

There are a few things you should do when you have a bleed. Remember the RICE method.

• R (Rest): Rest the injured joint or muscle. Keep it from moving.
• I (Ice): Apply an ice pack to the injured area for about 15-20 minutes, several times a day. This will reduce swelling and pain.
• C (Compression): Wrap the injured area with an elastic bandage to make it slightly tight.
• E (Elevation): Keep the injured arm or leg above the level of the heart.

While doing these things, you should talk to your doctor and get Factor treatment if necessary.

How to live with hemophilia

Living with hemophilia can be challenging, but with proper management, awareness, and support, you can live a normal, active life.

• Support from a team of specialists: When treating hemophilia, it is very important to get support from a team of people who include a hematologist , nurses, physiotherapists, and social workers. They will advise you on treatment, exercise, and how to stay safe.
• Engage in safe activities: People with hemophilia should avoid sports that can cause a lot of injury (e.g., rugby, boxing). Instead, engage in safe exercises such as swimming, walking, and cycling (with a helmet). Talk to a physical therapist to choose an exercise that is right for you.
• Maintain good dental health: It is very important to prevent tooth decay and gum disease, as there is a risk of bleeding when performing procedures such as tooth extractions. Continue to see a dentist.
• Medical alert identification: Always carry a bracelet or card that says you have hemophilia. It can be very useful in an emergency.
• Social support: Talking to other people with hemophilia and their families and sharing experiences is a great strength. If there are such organizations, join them.
• Hope for the future: New treatments for hemophilia are constantly being discovered. Research is also underway into things like gene therapy . So we can have hope for the future.

A Take-Home Message

Hemophilia is a blood clotting problem, but it is not something to be afraid of and can be managed well .

The most important thing is to seek medical advice quickly if you have symptoms, get an accurate diagnosis, and follow the treatment provided.

If you or someone you know has hemophilia, remember, you are not alone. With the knowledge, support, and treatment you need, you too can live a healthy, active life. Don't give up hope!

` Hemophilia, bleeding, blood clotting, genetic diseases, Factor VIII, Factor IX