Don't you also have difficulty stopping bleeding? Let's learn about hemophilia!

Have you ever heard of the disease called Hemophilia ? You may feel a little scared when you hear this name. But don't worry, because this is a very rare disease. Today, we will talk about what hemophilia is, how it develops, what are the symptoms, and whether there is a treatment, all in a simple way that you can understand.

What is hemophilia?

Simply put, hemophilia is a hereditary blood disorder that occurs in children. This means that your blood does not clot properly. This can cause excessive bleeding, or even minor bruising.

Think about it, there are special proteins in our bodies that help our blood clot. We call these 'clotting factors' . They're like little soldiers who work to stop bleeding. When you develop hemophilia, the body doesn't produce enough of one or more of these 'clotting factors'. Then the blood clots less and you bleed more.

There are several main types of hemophilia. The condition can be severe, moderate, or mild, depending on the amount of clotting factors in your blood.

The good news is that there is a treatment for this. Doctors are trying to put the low clotting factors back into the body. There is currently no cure for hemophilia. However, people with the condition usually live as long as others with proper treatment. Scientists are also researching new methods, such as gene therapy , to see if it can be cured.

Can hemophilia develop after birth?

Yes, it can happen. But it's very rare. This is called 'acquired hemophilia'. That means it's not inherited. What happens here is that our body's own defense proteins , called antibodies , sometimes mistakenly attack one of our own blood clotting factors. These antibodies that attack in the wrong way are called 'autoantibodies' .

Is hemophilia a common disease?

No, not at all. This is a very rare disease. According to statistics in the United States (CDC August 2022), about 33,000 people there have hemophilia. It most often affects men. Rarely, women can also experience symptoms such as low blood clotting factor levels and heavy bleeding during menstruation.

What are the types of hemophilia?

There are three main types of hemophilia:

• Hemophilia A: This is the most common type. It occurs when the body does not have enough of the blood clotting factor 8, or factor VIII . It affects about 10 in 100,000 people.
• Hemophilia B: This is caused by a deficiency in blood clotting factor 9, or factor IX . About 3 in 100,000 people have this type.
• Hemophilia C: Also called factor XI deficiency , this is very rare, affecting about one in a million people.

Is hemophilia a serious disease?

Yes, sometimes this can be serious. People with severe hemophilia can bleed in a life-threatening way, which we call 'hemorrhage.' But most of the time they bleed into the muscles or joints.

What are the symptoms of hemophilia?

The most important symptoms are unusual or excessive bleeding and bruising.

Commonly seen symptoms

People with hemophilia can develop large bruises even from minor accidents. This means that blood is leaking under the skin.

• Perhaps after surgery, after a tooth extraction, or even just a cut on a finger , bleeding can last for an unusually long time.
• Nosebleeds can suddenly occur for no reason.

How much bruising/bleeding you have depends on whether you have severe, moderate, or mild hemophilia.

• People with severe hemophilia may bleed frequently for no apparent reason.
• People with moderate hemophilia may bleed for an unusually long time if they are in a major accident.
• People with mild hemophilia only experience abnormal bleeding after major surgery or a major accident.

There may also be other symptoms:

• Joint pain due to blood pooling in the body. Areas like the ankles, knees, hips, and shoulders may hurt, swell, or feel hot to the touch.
• Bleeding in the brain. This is a very rare occurrence in people with severe hemophilia. If you have bleeding in the brain, you may have a persistent headache, blurred vision, or extreme drowsiness . If you have hemophilia, you should see a doctor right away if you experience any of these symptoms.

Symptoms in babies and young children

Sometimes, hemophilia is discovered when a baby boy is circumcised and bleeds more than normal. Other times, children show symptoms a few months after birth. The most common symptoms are:

• Bleeding: Babies may bleed from their mouths when they bite on a small toy.
• Swollen lumps on the head: Babies and young children may develop large, round lumps (goose eggs) when they hit their heads.
• Frequent crying, restlessness, and a reluctance to crawl or walk: These can occur if blood has entered a muscle or joint. The area may feel bruised, swollen, hot to the touch, or the baby may feel pain even when touched lightly.
• Hematomas: A 'hematoma' is a collection of blood clots that collect under the skin in babies and young children. These types of hematomas can also occur after an injection.

What are the causes of hemophilia?

These 'clotting factors' are made from certain genes in our body. In hereditary hemophilia, the genes that instruct the production of these 'clotting factors' mutate, meaning they change. These mutated genes can either make the wrong 'clotting factors' or not make enough 'clotting factors'. However, about 20% of hemophilia patients are spontaneous, meaning they can develop the disease even if no one in the family has had it before.

How is hemophilia inherited?

Both types of hemophilia A and B are sex-linked diseases. They are inherited in an X-linked recessive manner. Let's see how that happens:

• We all get one set of chromosomes from our mother and one set of chromosomes from our father. If you get an X chromosome from your mother and an X chromosome from your father, you are a girl. If you get an X chromosome from your mother and a Y chromosome from your father, you are a boy. Simply put, the mother always gives her child an X chromosome. Your sex is determined by whether the father gives you an X or a Y chromosome.
• If a woman has a defect in the gene that makes this 'clotting factor' on only one of her two X chromosomes, she may be a carrier of hemophilia, but she may not show symptoms because she has a healthy gene on her other X chromosome.
• If a carrier mother with a defective X chromosome like this has a male child, there is a 50% chance that the child will inherit the defective X chromosome. If that happens, the male child will develop hemophilia.
• If that mother has a daughter, there is a 50% chance that the child will also inherit the defective X chromosome. However, she may not show symptoms because she inherits a healthy X chromosome from her father. Then that daughter will also be a carrier.

That is, a woman who inherits a defective X chromosome becomes a carrier of hemophilia. She may not have symptoms, but she can pass the disease on to her children. Each child she has has a 50% chance of inheriting hemophilia. Male children who inherit hemophilia are more likely to show symptoms because they do not receive a healthy X chromosome from their father.

Do girls also get symptoms of hemophilia?

Yes, it can happen. But the symptoms are usually mild. For example, a woman who carries the hemophilia gene may not have enough normal clotting factors. If this happens, she may experience unusually heavy bleeding during her periods, bruise easily, bleed excessively after giving birth, or bleed into her joints, causing joint problems.

How do doctors diagnose hemophilia?

A doctor will first ask you a complete medical history and do a physical exam. If you have symptoms of hemophilia, they will also ask about your family history. They may do tests such as:

• Complete Blood Count (CBC): This is done to look at the types of cells in the blood.
• Prothrombin Time test (PT): This can check how quickly your blood clots.
• Partial Thromboplastin Time test (PTT): This is another test that measures the time it takes for blood to clot.
• Specific clotting factor test(s): This blood test measures the levels of specific clotting factors, such as factor VIII and factor IX .

What are these clotting factor levels?

Clotting factors are substances that help control bleeding. Doctors classify hemophilia as mild, moderate, or severe based on the amount of these clotting factors in your blood:

• People with clotting factors between 5% and 30% of normal levels have mild hemophilia.
• People with clotting factors between 1% and 5% of normal levels have moderate hemophilia.
• People with less than 1% of normal clotting factors have severe hemophilia.

What are the treatments for hemophilia?

Doctors treat hemophilia by increasing the levels of clotting factors that are low or replacing the missing clotting factors. This is called replacement therapy .

In this replacement therapy, you are given clotting factors made from human plasma (human plasma concentrates) or made in a laboratory (recombinant) . Usually, only people with severe hemophilia need this replacement therapy on a regular basis. People with mild to moderate hemophilia are given this therapy if they are about to have surgery. They may also be given antifibrinolytics , which are medicines that stop blood clots from forming.

These blood factor concentrates are made from donated human blood. They are purified and tested to reduce the risk of transmitting infectious diseases such as hepatitis and HIV . These replacement factors are given as an intravenous infusion (IV) .

If you have severe hemophilia and bleed frequently, your doctor may prescribe a treatment called 'prophylactic factor infusions' to prevent bleeding.

Are there any complications in the treatment?

Some people who receive this replacement therapy develop antibodies , called inhibitors , that attack the clotting factors they are given. Doctors use a procedure called Immune Tolerance Induction (ITI) to treat this. ITI involves giving them daily injections of clotting factors to lower the levels of the inhibitors. This can be a long-term treatment, and some people may need this treatment for months or even years.

Can hemophilia be prevented?

No, it can't be done. If you have hemophilia and you have children, your doctor may recommend genetic testing . That way, you and your children can find out if they are likely to pass hemophilia on to the next generation.

What kind of hope should a person with hemophilia have?

If you have hemophilia, you may need medical treatment for the rest of your life. How much treatment you need depends on the type of hemophilia you have, its severity, and whether or not you develop 'inhibitors'.

What is the life expectancy of someone with hemophilia?

According to the World Federation of Hemophilia, the life expectancy of a man with hemophilia is about 10 years shorter than that of a man without hemophilia, according to 2012 data from the World Federation of Hemophilia. However, they say that children with hemophilia who are diagnosed and treated at an early age have a normal life expectancy .

But not everyone is the same. What is true for one person may not be true for another. If you or your child has hemophilia, ask your doctor what to expect. He or she knows your/your child's condition and general health best.

How do I take care of myself?

People with hemophilia may need ongoing medical care to prevent bleeding. They may also have to give up some activities and medications. However, there are many things you can do to manage the impact that hemophilia has on your life.

Things not to do

Things that are easy for others to bump, fall, or trip over can cause serious problems for people with hemophilia. They should avoid activities that put them at high risk of falling or getting hit hard. Examples:

• Playing sports like football, hockey, and rugby.
• Participating in things like boxing and wrestling.
• Riding a motorcycle.
• Skateboarding.

Other sports, such as soccer, basketball, and baseball, also carry a high risk of injury. If you want to play these sports, talk to your doctor about things like using protective gear.

Medicines that are not good to take

Painkillers like aspirin, ibuprofen, and naproxen prevent blood clotting. Also, taking anticoagulants like heparin or warfarin is not a good idea.

Things you can do to live a better life

There are many things you can do to reduce the impact that hemophilia has on your life:

• Get into an exercise routine: You may be worried about getting injured while exercising. However, talk to your doctor about ways to stay active while reducing your risk of bleeding.
• Manage stress : Hemophilia is a lifelong condition, and you may need to make an extra effort to balance it with your family and work responsibilities.
• Maintain good dental health: Brushing, flossing, and seeing your dentist regularly can reduce the risk of needing dental treatment that can cause bleeding. Don't forget to tell your doctor about your condition.
• Maintain a healthy weight: If you have joint damage due to internal bleeding and are having difficulty moving around, controlling your weight will help.
• Inform those around you: If you have severe hemophilia, you may experience sudden, uncontrollable bleeding episodes, even if you take medication. Inform your family about what to do if this happens to you. If your child has hemophilia, inform their caregivers and school staff about what to do if your child bleeds.

When should I see a doctor?

If you notice any changes in your body, such as excessive bleeding or bruising, see a doctor.

When to go to the Emergency Room

You should go to the emergency room immediately in these situations:

• If you have a severe headache or are experiencing dizziness, these symptoms may indicate that you are bleeding into your brain.
• If you have swollen and/or painful joints, and you do not have factor replacement medication.

What questions should I ask the doctor?

If you or your child is diagnosed with hemophilia, you may want to ask your doctor questions like these:

• What type of hemophilia do I/my child have?
• What treatments do you recommend?
• What are the side effects of the treatment?
• Will I/my child have to receive treatment every day?
• What activities are not good for me/my child to do?
• What medicines are not good for me/my child to take?
• What can I do to manage the impact this condition is having on my/my child's life?

Take-Home Message

Hemophilia is a rare, inherited blood disorder. It can have a significant impact on your life. People with hemophilia may need lifelong medical care. Parents of children with hemophilia may worry about protecting their children from harm, as well as teaching them to live with hemophilia.

Currently, doctors cannot cure hemophilia completely. However, they can provide treatments to prevent or reduce the symptoms of hemophilia. They can also recommend steps you can take to reduce the impact of hemophilia on your daily life. The most important thing is to stay calm and follow your doctor's instructions carefully.