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Bleeding disorders can be potentially life-threatening, and Hemophilia A is no exception. The key to treating it is knowing how to recognize and treat its symptoms.
What's in this Guide?
- Quick Overview
- What is Hemophilia A?
- What Causes Hemophilia A?
- Diagnosis of Hemophilia A
- Hemophilia A Genetics - Genetic Tests for Hemophilia A
- DNA Testing to Spot or Detect Hemophilia A Early
- DNA Tests Currently Available for Hemophilia A Include:
- DNA Testing for Hemophilia A: Strengths and Limitations
- How is Hemophilia A Inherited?
- Testing for Hemophilia A on a Pregnancy or Before a Pregnancy is Achieved
- Who Does Hemophilia A Typically Affect?
- Hemophilia A Treatment Options
- The Prognosis for Hemophilia A
Disclaimer: Before You Read
It is important to know that your genes are not your destiny. There are various environmental and genetic factors working together to shape you. No matter your genetic makeup, maintain ideal blood pressure and glucose levels, avoid harmful alcohol intake, exercise regularly, get regular sleep. And for goodness sake, don't smoke.
Genetics is a quickly changing topic. Read More...
At YourDNA, we believe that knowledge is power. The more you know about the disorder, the more proactive you can be.
There are two types of Hemophilia that people sometimes get confused. Both Hemophilia A and Hemophilia B leave people without enough of a clotting factor, meaning they'll bleed more than usual.
Each type is insufficient in a different clotting factor. Hemophilia A is insufficient in clotting factor VIII.
Learning more about this disease ensures you’re aware of the symptoms and prepared in the event you or someone you love is diagnosed with the disorder.
What is Hemophilia A?
Hemophilia A is essentially a bleeding problem. People who have this disorder tend to bleed much longer than the average person.
Clotting Factor, which is a protein within the blood intended to control bleeding, is minimal in people with this disease. In order to stop bleeding episodes, the level of Factor needs to increase.
There are 13 total proteins, or clotting factors, that each person has. When you have Hemophilia A, you're lacking sufficient amounts of clotting factor VIII, otherwise known as FVIII.
The Roman numeral version, VIII, is always used when discussing the protein, as well as the Roman numerals for all other factors.
The most common bleeding disorder is actually not Hemophilia A, but something known as von Willebrand disease. Tests can sometimes mix up the two because of how similar they are.
People are sometimes diagnosed with Hemophilia A even though they really have a form of von Willebrand disease. This is why it's extremely important for doctors to do the proper testing and for genetic counselors to look at the results closely to determine which disorder a person actually has. Missing von Willebrand factor is the culprit of this disease.
It binds factor VIII to platelets found in the walls of the blood vessels to form a plug during the process of clotting. Because von Willebrand too involves VIII, that's why they often get confused.
The life expectancy of someone with Hemophilia A is only about 10 years shorter than the average person 1. That is, as long as proper treatment options are in place.
Someone who does not seek treatment may not make it past early adulthood. People who have extreme cases may develop an intracranial hemorrhage, or bleeding in the skull.
What Causes Hemophilia A?
For the most part, people are simply born with Hemophilia A. It's not something you can catch from another person.
It's typically inherited, though a person’s own genes can change and the disorder can develop even without a prior family history of it.
Essentially, a mutation in a gene is what causes hemophilia. People with this mutation have a deficiency in clotting factor VIII. A mutation in the corresponding gene can also cause Hemophilia B, a variation of hemophilia that affects a different clotting factor.
Diagnosis of Hemophilia A
You'll need to see a doctor to receive a diagnosis. If you notice any unusual symptoms that could indicate Hemophilia A, it's time to get checked.
For example, you may experience larger bruises than usual, you might have sudden bleeding that seems to appear for no reason, or you could experience long-lasting bleeding after having a tooth pulled, undergoing surgery, or getting cut. Bleeding into the muscles and joints may also occur.
If this sort of internal bleeding is happening, you may experience unusual swelling, pain, stiffness, an inability to use the particular joint in that area, or simply an odd and unexplainable feeling.
The doctor will need to take a blood sample in order to diagnose the disease. The amount of factor activity gets monitored to determine if there are any inconsistencies. They will specifically look at Factor VIII activity to determine if Hemophilia A is present and Factor IX to determine if Hemophilia B is the culprit.
A screening and blood test are often both performed together to ensure a proper diagnosis. First, the screening test looks at whether or not the blood is clotting properly in the first place.
If it is, then there's likely not an underlying issue. If it isn’t, however, then the second test is needed for a closer look.
Hemophilia A Genetics - Genetic Tests for Hemophilia A
Genetic tests allow you to discover early on if you carry the gene for the disorder.
You may have never learned if you carried the gene and now are hoping to start a family. Learning this may help you make a decision of whether or not to get pregnant naturally or try alternative methods, such as surrogacy.
DNA Testing to Spot or Detect Hemophilia A Early
If you want tests to detect Hemophilia A early, you should look for a genetic testing center near you.
Hemophilia is a sex linked trait because it is found in the X chromosome. Test for Hemophilia A early by either going to a center or speaking with your doctor who can refer you to a genetic counselor.
DNA Tests Currently Available for Hemophilia A Include:
You can choose from a few different testing options. The most reliable source would be a genetic counselor who can help you go over your results and ensure you understand what a positive test for Hemophilia A means for your life.
There are not many at-home options that would help determine if you have Hemophilia A. However, they may be able to indicate if you are a carrier of the gene.
Look into options such as 23andMe, Helix DNA Testing, HomeDNA, Futura Genetics, and 24Genetics. These choices may provide the insight you're looking for.
These tests require a cheek swab so they are not going to provide as accurate details about Hemophilia A as a blood test done by a physician.
Where Can I Go for a Genetic Test for My Child?
It's best to speak with your doctor about genetic testing. They may be able to perform it in office, or point you in the right direction of the correct facility with the proper tools and knowledge to test for this disorder.
You may want to speak with a genetic counselor or visit a hemophilia treatment center that has further information and experience with this particular disorder.
Symptoms typically start to show within the first two years of life. However, it can take up to the toddler years for you to notice any signs in your child.
If you know your child has the disorder, always be on the lookout for symptoms and learn to use precautions early on.
DNA Testing for Hemophilia A: Strengths and Limitations
It's possible to do a DNA test for Hemophilia A and learn if you have the gene that can be passed onto your children.
There are both strengths and limitations to the testing process. The direct DNA testing approaching takes a blood sample from the male family member with Hemophilia A.
This sample is looked at closely to determine if any mutations are present. The test is roughly 98 percent accurate, leaving a small window for error.
Parents can have their babies tested following birth if they do not wish to have it done while the mother is pregnant. This requires blood from the umbilical cord.
Low levels of Factor VIII can be detected this way. It takes longer for Factor IX to develop in babies, so that part of the process to test for Hemophilia B cannot be completed until the child is 6 months old 2.
A test shows three things: whether the person actually has hemophilia, what type they have and how severe it is. The severity is determined by how much of the clotting factor is missing compared to what should be there in a normal situation.
How is Hemophilia A Inherited?
Both the Hemophilia A and Hemophilia B genes are found on the X chromosome, making them X-linked disorders.
If a mother does not have hemophilia but the father does, it's unlikely that any sons produced will have it. The daughters will, however, be carriers.
Any woman who has inherited the gene from her parents now has the potential to pass the gene onto her offspring, and there's a 50 percent chance of passing the gene to either a son or a daughter 3.
It used to be believed that only men exhibited symptoms, but advancements in medicine have made it clear that women can also experience symptoms. They are sometimes less obvious, however, and can be more difficult to determine.
Testing needs to be done to make a proper determination.
What are the chances that I will pass Hemophilia A on to my child?
If you have the gene because you inherited it from one of your parents, you have a 50 percent chance of passing it onto your child. The percentage may increase or decrease based on whether your spouse has the disorder as well. You should look into testing to determine if you do, in fact, have Hemophilia A.
You can even get tested during your pregnancy to determine if your child has the disorder and will be affected.
Testing for Hemophilia A on a Pregnancy or Before a Pregnancy is Achieved
Doctors may want to test an unborn baby if the mother is a known carrier of Hemophilia A. Between 9 and 11 weeks the doctor can perform a chorionic villus sampling (CVS) 4.
This is when a minuscule tissue sample is taken from the fetal portion of the placenta, known as the chorionic villi. The sample can either get taken through the abdominal wall or the cervix.
If you’ve already passed the 11th week and need to get tested, a blood sample will need to be taken from the baby at a later time. It's usually recommended to wait until 18 weeks so the doctor can then get a fetal blood sample.
Who Does Hemophilia A Typically Affect?
Hemophilia A can affect anyone. It most often affects males because they actually are diagnosed with the disorder.
Girls, however, tend to only become carriers with the potential to pass the gene onto their children. In rare cases, a female may have both X chromosomes affected with the gene and actually have symptoms of the disease themselves.
All races are equally affected by hemophilia. Socioeconomic groups all have an equal chance of developing the disease as well.
Approximately every 1 in 5,000 males is born with Hemophilia A 5, with roughy 16,000 total people having the disorder in the US.
Does Hemophilia A Occur in Children?
Hemophilia A can occur in infants or babies, whether that be in males or females. It is more often seen in young males who have had the genes passed on from parents. Females are usually carriers.
You may find it difficult to cope with the diagnosis after learning your child has Hemophilia A. Working with a care team at a skilled facility is the best solution.
You will get the resources and guidance you need.
Prevention is key in ensuring children with this disorder do not get injured and experience prolonged bleeding that can do damage to their small bodies. Making sure they wear helmets, knee pads and elbow pads while riding bikes, using roller skates or performing similar activities is a significant help.
Always use straps and seat belts when your child is sitting in a stroller or highchair to limit the chance of falls.
Checking play equipment for potential hazards, removing any sharp objects from out of your child’s reach and keeping any other items that could cause bleeding or harm is imperative. Learning to examine your child’s body and looking for signs of hemophilia will help you get care sooner.
Letting any teachers, babysitters, and child care providers about the disorder and how to handle the situation is also vital in maintaining your child’s well-being.
Hemophilia A Treatment Options
Hemophilia A is a treatable disease. However, it is not curable. You can treat the symptoms and reduce your risks.
Gene therapy is one of the best options that can significantly increase clotting factor and make excess bleeding less frequent.
Gene therapy involves infusing concentrated clotting factor into the body. This raises the levels enough so a proper clot can form and bleeding can stop on its own.
A freeze-dried powder form is used in this instance, and it's mixed with a diluent or sterile water.
Prophylaxis is when clotting factor is given on a regular basis to prevent bleeding. It may be done once or more per week.
This is often started when someone has a significant portion of clotting factor missing and needs the help to prevent a serious bleed from happening. It may also be started after regular bleeds start to occur.
Plasma-derived factor is also an option as plasma has clotting factors in it. People donate plasma and this can then be used for a treatment option for people with Hemophilia A.
All plasma is tested for viruses first before it's used in this process to reduce the chance of the recipient contracting diseases.
Recombinant factor is another possibility. This is made in a lab rather than taking from a true human sample. Since there are no proteins from human blood, there is a lower risk of contracting a virus.
An episodic treatment is only given at the time of a bleeding incident. Other options are often given in regular intervals to prevent bleeding occurrences. This type of option is usually all that’s required for someone with a mild case of Hemophilia A.
Planned preventive treatment is a great solution. This requires infusing clotting factor into the body before a big event or activity that could lead to injury.
Someone who plays sports, for example, may require an infusion before they head to practice or a game. Even if you're not scheduled to infuse at this time, it's still helpful to do so to prevent a bleeding episode.
You may give yourself these infusions at home as long as you're shown how to do so properly and can make sure you are placing them in the correct location. Clotting factor must be placed directly into a vein.
A central venous access device, or port, may need to implanted under the skin to help you find a viable vein. One may be difficult to find without the port. A tube gets connected to a large vein and also to a port, and the factor is inserted into the port.
It's important to keep treatment logs detailing when you received or gave yourself an infusion, to ensure you're not getting too much. Tracking these infusions also allows you to detail the number of bleeds you’ve experienced.
Once you’ve started to experience them often, it may be time to try another treatment option or speak to your doctor. The logs should include the date of the bleed and treatment as well as the circumstances that caused it. You may be able to recognize a pattern of when the bleeds are occurring and work toward preventing them.
There are many preventive methods that you can use when you have Hemophilia A. Exercise is actually one of them.
Though you have to be careful, exercising regularly and staying active can help to keep the muscle that surrounds the joints strong. This can prevent bleeding episodes. It's also important to stick with low-impact options and avoid dangerous ones. Swimming is a great choice, as are walking and golfing.
Follow the R.I.C.E rule when you have bleeding. This can slow bleeding and help your body recover while you heal. Rest, ice, compression and elevation make up this method 6.
The Prognosis for Hemophilia A
The prognosis isn’t ideal for people with Hemophilia A, but it also isn’t the worst. The disorder is treatable, so symptoms can be reduced, but it cannot be cured.
Less than 60 percent of all cases include a severe form of hemophilia. This means the majority are not severe and do not require multiple treatments per week.
About 30 percent of all people with the disorder will die because of their disease. This is often in the form of bleeding in the skull.
The shortened lifespan is sometimes due to additional health problems that people with this disorder tend to develop as well as any rare complications that may arise.
Does Hemophilia A Go Away?
Hemophilia A does not go away on its own. However, symptoms can be significantly reduced with treatment.
Without proper treatment, people who have Hemophilia A may not even make it to adulthood. With hope and research, there could be a potential for a cure someday in the future.
Infusion treatments are a great start toward making that happening.
Is There a Cure for Hemophilia A?
There is currently no actual cure for Hemophilia A. Gene therapy is the closest solution.
Replacing mutated cells with normal ones can greatly help the clotting factor levels to rise so symptoms do not occur. Those with severe cases may be reduced to a moderate case, but they will likely still experience symptoms.
Liver transplants seem to cure the disease because the liver is where this protein that impacts the blood is made. A transplant is not a cure for hemophilia, however, due to the severity of the surgery and the major risks.
Liver transplants are only used when the liver itself stops working.
What are Hemophilia A Care Options?
There are different outcomes for different levels of severity. Those with a much higher severity level of the disease need more proper care if they are going to live a healthy life.
A nationwide network exists of hemophilia treatment centers. It's vital to visit one of these centers to receive support and guidance on a proper care plan.
Receiving care at a center from a professional team is the best solution. You should receive regular check-ups, get all recommended vaccinations, receive regular dental care and follow your doctor-provided treatment plan at all times.
You will need to disclose your condition to all doctors, physicians, dentists, and perhaps even your employer so that the proper precautions can always be taken to reduce your risk of bleeding.
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