Are you aware of Hemophilia B? Let's break it down!

Have you ever noticed that some people continue to bleed even from a small wound? Or have you noticed that for no reason, parts of your body turn blue and have blood streaks? One reason for these things could be the condition we are going to talk about today called Hemophilia B. Don't worry, we will talk about this in a simple way that you can understand.

What is Hemophilia B?

Simply put, hemophilia B is a hereditary bleeding disorder. It occurs when there is a mutation in a gene that helps our blood clot. People with hemophilia B have low levels of factor IX (also known as factor 9, F9, FIX), a key protein that helps blood clot. If left untreated, this condition can be life-threatening. The good news is that doctors are treating it with factor 9 replacements. New treatments, such as gene therapy, are also being investigated.

How does this condition affect your body?

Like other types of hemophilia, people with hemophilia B bleed more and for longer than normal when they have an injury, surgery, or tooth extraction. This condition mostly affects men, but it can also affect women.

Doctors classify hemophilia as mild, moderate, and severe . People with severe hemophilia B can bleed into their joints. This is very painful, and over time, it can lead to conditions like arthritis. Some people need surgery to remove damaged joints and replace them. They can also bleed into their brains, which can be life-threatening.

How common is hemophilia B?

According to statistics in the United States, about 4 out of 100,000 men have hemophilia B. Women also get it, but it's hard to say exactly how many. Because even though they have symptoms like heavy periods, many people don't think it's related to hemophilia.

Do you know what the difference is between hemophilia A and B?

Hemophilia A and B are both inherited bleeding disorders. Although the symptoms are very similar, the genetic mutations that cause them are different. Studies have shown that the symptoms of hemophilia B may be slightly less severe than those of hemophilia A. This means that hemophilia B is also a serious condition, but people with it may have fewer problems with excessive bleeding. Here are some other differences:

• Studies show that people with hemophilia B have less bleeding into the joints (hemathroses) and less joint damage.
• Spontaneous bleeding is rare in people with hemophilia B.
• Sometimes, during treatment for hemophilia, the body develops antibodies that interfere with the treatment. However, people with hemophilia B are less likely to have these problems.

Why was this previously called 'Christmas disease'?

This is a very interesting story. For more than 100 years, doctors thought that there was only one type of hemophilia. But in 1952, a researcher used blood plasma from seven people with hemophilia (one named 'Christmas') to treat other hemophiliacs. Surprisingly, the treatment worked! It was then that researchers realized that Mr. Christmas had a different type of hemophilia, that is, it was caused by a different gene mutation. So they called this second type of hemophilia 'Christmas factor' or 'Christmas disease'. It was later called hemophilia B.

What causes hemophilia B?

As mentioned earlier, hemophilia B is a genetic bleeding disorder. If you have hemophilia B, it means you have inherited an abnormal gene that affects the amount of factor 9. Usually, there is a gene called F9, which tells you how to make factor 9. Hemophilia B occurs when this F9 gene mutates, creating an abnormal gene that reduces the level of factor 9, or completely eliminates factor 9. Most often, boys inherit hemophilia B if their mothers are carriers of the disease.

Here's how it happens:

• We all get two X chromosomes from our mother, one X chromosome and one Y chromosome from our father.
• If a woman has an abnormal F9 gene on one of her X chromosomes, she will be a carrier of hemophilia B, but she will not show symptoms. This is because she has a normal F9 gene on her other X chromosome.
• This woman can pass on the X chromosome with the abnormal F9 gene to her son. Since sons only have one X chromosome, they will develop hemophilia B.

Sometimes, hemophilia B can occur through a process called spontaneous mutation , not inherited from mother to son. This happens when an egg and sperm unite to form an embryo, which then divides and begins to make new cells. These new cells carry copies of the genes that were in the original cell. So, sometimes mistakes, or mutations, can happen when these genes are copied. If there is a mistake when the F9 gene is copied, your child may develop hemophilia B or be a carrier of hemophilia B. (Historians and medical researchers believe that something similar happened to Queen Victoria of England. Although no one in her family had hemophilia, she did. She passed the disease on to her children. When those children married into the royal families of Spain and Russia, their children also contracted the disease. It was later identified as hemophilia B.)

What are the symptoms of hemophilia B?

We've already mentioned that hemophilia B symptoms are classified as mild, moderate, and severe. Doctors classify these based on the levels of factor 9 in the blood.

Mild hemophilia B

People with factor 9 levels between 6% and 49% have mild hemophilia B. Symptoms are mild. Sometimes, people with mild hemophilia B are diagnosed as adults, when they are preparing for surgery, when they are about to have a baby, after a major injury, or, in the case of women, when they are being treated for heavy menstrual bleeding.

Moderate hemophilia B

People with factor 9 levels between 1% and 5% have mild hemophilia B. Symptoms are also mild. Children with this condition usually start showing symptoms around 18 months of age.

These children may have symptoms like:

• Bruises: They bruise and bruise very easily.
• Unusual bleeding: If you have surgery, a bleeding wound, or a tooth extraction, you may bleed more and for longer than normal.
• Spontaneous bleeding: Rarely, bleeding can start for no apparent reason.

Severe hemophilia B

People with factor 9 levels less than 1% have severe hemophilia B. The symptoms are severe. Some children may start bleeding at birth, shortly after birth, or after circumcision. Other children may not show symptoms until a few months after birth. Common symptoms include:

• Bleeding: Young babies and toddlers may bleed from their mouths if something small, like a toy, gets in their mouth.
• Swollen lumps on their heads: If a small baby hits their head somewhere, they can develop lumps that look like goose eggs.
• Frequent crying, restlessness, or refusing to crawl or walk: These can happen if your baby is bleeding into a muscle or joint. They may have blue, swollen areas on their body. These areas may feel hot to the touch, and may hurt.
• Hematomas: A hematoma is a blood clot that collects under the skin. A baby can also develop a hematoma after an injection.
• Breathing difficulties: Sometimes, the child's tongue can swell due to bleeding and block the airway.

How do doctors recognize this?

Doctors diagnose hemophilia B by performing a physical exam, looking for symptoms such as bruising and swelling of the joints, and asking if anyone in the family has hemophilia or other blood disorders.

In addition, the following tests are also performed:

• Complete Blood Count (CBC): This checks the types of cells in the blood and their numbers.
• Prothrombin Time (PT) test: This tests how quickly your blood clots.
• Activated Partial Thromboplastin Time test: This is also a test that measures how long it takes for a blood clot to form.
• Fibrinogen test: A test that measures the amount of a protein called fibrinogen, which helps blood clot.
• Clotting factor test: This is what helps determine the exact type of hemophilia and the severity of the disease.

What are the treatments for this?

Doctors often treat hemophilia B with factor replacement therapy . This involves injecting concentrated factor 9 into a vein. This concentrated factor 9 works to replace the missing factor, helping to prevent excessive bleeding or control bleeding when it does occur.

Typically, people with mild to moderate hemophilia B only need this treatment when they have to have something like surgery. However, people with severe hemophilia B may need factor replacement therapy on a regular basis.

Are there any complications that may occur during treatment?

Some complications can occur in people taking this treatment. The main ones are the development of inhibitors and viral infections .

Inhibitors

Inhibitors develop when the body stops accepting the factor replacement as part of its normal blood. These inhibitors prevent factor replacement therapy from working properly. This makes it very difficult to stop or reduce bleeding. People with severe bleeding disorders who are receiving high doses of factor therapy are more likely to develop this complication. Doctors treat this by using other substances that can complete blood clotting without bypassing factor 9.

Viral infections

Rarely, viral infections such as hepatitis C can occur when factor substitutes are used, made from donated blood. However, with current testing methods, this risk is much lower.

Can the risk of this happening be reduced?

Because hemophilia B is an inherited disease, you cannot prevent it from developing or passing it on to your children. Let's learn a little more about the genetic process by which it is inherited:

• If you are a woman and have the abnormal F9 gene on one of your X chromosomes (meaning you are a carrier), your male children have a 50% chance of developing hemophilia B, and your female children have a 50% chance of being carriers.
• Your daughters, who inherit this gene, can pass hemophilia B to their sons. Their daughters can be carriers.
• Your sons with hemophilia B can pass this chromosome on to their daughters.
• If you are a man and you have hemophilia B, your sons will not have the disease. But all your daughters will be carriers of the chromosome with the abnormal F9 gene.

Genetic counseling is very important in this situation. If you or someone in your family has hemophilia, it is a good idea to meet with a genetic counselor before having a child.

If I'm pregnant, can I find out in advance if my baby has this condition?

Yes, you can. Doctors can take a sample of blood from your umbilical cord and test it for clotting factors. That way, you and they can know in advance what to expect when you have your baby and what to do to prevent complications from bleeding.

If I have hemophilia B, what should I expect?

Hemophilia B is a chronic disease. Doctors cannot cure it completely. However, there are treatments that can prevent or reduce severe joint pain and other medical problems. Most people with hemophilia B can maintain good health with treatment.

People with severe hemophilia B need to receive regular factor replacement injections (infusions or injections) to treat bleeding problems. They may go to a doctor for treatment, have a family member or caregiver give them the injection, or they may be able to give the injection themselves. However, people with severe hemophilia B need regular treatment to prevent excessive bleeding.

They may also develop other medical conditions that affect their overall health and lifespan. For example, many people with hemophilia B have severe problems with their knees or hips, requiring surgery to remove the damaged joints and replace them with new ones. If you have hemophilia B, ask your doctor what to expect. He or she is the best person to give you the best information because he or she knows your condition and your overall health.

What should I know if my child has this condition?

If your child has mild or moderate hemophilia B, it's important to let your doctor know about the condition so they can prevent excessive bleeding if your child has surgery or a tooth extraction. Here are some more suggestions. Your doctor may have other suggestions:

• When your children are very young, check that their high chairs and car seats have proper safety belts.
• When they get a little older and play with other children, their caregivers and school teachers need to know what to do if the child accidentally gets injured and starts bleeding.
• Your child will need to stay away from certain activities, such as games that involve hard contact with others or the possibility of falling.

What if my child has severe hemophilia B?

Children with severe hemophilia B will need medical treatment for the rest of their lives – to prevent or reduce bleeding, or to manage symptoms. Here are some of the challenges you may face, and some suggestions that can help:

• Babies with hemophilia B, when they are learning to walk, can start bleeding if they bump or fall. It is not possible to prevent all falls, but it is a good idea to put protective covers on sharp corners of furniture in the home.
• As your child gets older and starts running and jumping, talk to your doctor about safety gear like a helmet and knee pads. In fact, all children should wear a helmet when riding a bike. Your child may need extra protection to avoid collisions that could cause bleeding.
• Your child will need to get regular medical care to stop the bleeding. He may feel angry and frustrated about not being able to spend time with his friends and missing schoolwork when he has to go for treatment.
• A child with hemophilia knows that his teachers and others know about his condition. He may feel uncomfortable when teachers and others at school try to help him but treat him differently.
• Older children and young people may need help dealing with their feelings and coping with the reactions of others. If your child is in a similar situation, talk to your doctor about programs or support groups for young people.

I have hemophilia B. How do I take care of myself?

Living with hemophilia B means taking extra steps to protect your overall health, while taking care of your treatment. Here are some suggestions:

• Protect yourself from infections: Ask your doctor about which vaccinations are right for you.
• Maintain a healthy weight: If you have joint damage due to internal bleeding and are having difficulty moving around, controlling your weight can help.
• Get into an exercise routine: You may be afraid of getting injured while exercising. Talk to your doctor about ways to reduce your risk of bleeding while being active.
• Manage your stress: Hemophilia B is a lifelong condition. It can take extra effort to balance it with your family and work responsibilities.
• Avoid certain painkillers: If you have hemophilia B, you should not take aspirin or ibuprofen. These painkillers interfere with blood clotting.

You should see your doctor for your scheduled treatment and any time you have any other symptoms, such as unusual bleeding or severe joint pain.

When do you need to go for emergency treatment?

If you have a head injury , you should seek medical attention immediately. These symptoms may indicate that you have bleeding into your brain (intracranial hemorrhage):

• Headache.
• Weakness.
• Nausea and vomiting.
• Numbness or paralysis.

If you can't stop bleeding from any type of wound, or if you start bleeding for no reason, see your doctor or go to an emergency room immediately.

Finally, things to remember (Take-Home Message)

Hemophilia B is another rare form of a rare disease. Like hemophilia A, hemophilia B is an inherited bleeding disorder. Although studies show that people with hemophilia B may have less severe symptoms than those with hemophilia A, hemophilia B is still a condition that causes a number of medical, lifestyle, and psychological challenges.

Women who are carriers of the condition may worry that their children will inherit it. Parents of a child with hemophilia B may worry about protecting their child from accidental injuries. Later, they may have to help their growing child learn to live with hemophilia B. People with severe hemophilia B may need lifelong treatment to prevent excessive bleeding.

But there is hope! Researchers are investigating new treatments, such as gene replacement and gene therapy. These could make a big difference in the way severe hemophilia B is treated. If you or your child has the condition, ask your doctor about clinical trials that might be right for you. Remember, with proper medical advice and treatment, you can live a successful, healthy life with hemophilia B.

` Hemophilia B, bleeding, genetic diseases, blood clotting, Factor IX, hereditary diseases, Christmas disease