Hemophilia Facts – What You Need to Know about Hemophilia
April 17 was World Hemophilia Day and Health4Nigeria and Medical Treatment in Germany were present at the hemophilia public lecture in LUTH organized by Hemophilia Foundation of Nigeria at LUTH, Lagos. There is so much to know about hemophilia and we have compiled this article to keep you informed, so you can be aware.
What is Hemophilia
Hemophilia is a deficiency in which your blood doesn’t clot normally because blood clotting proteins, called clotting factors are deficient in the blood. People with hemophilia bleed for a longer time after an injury than they would because their blood does not clot normally like it should after an injury or a cut.
Hemophilia impairs the body’s ability to control bleeding. Treatment includes regular replacement of the specific clotting factor that is reduced.
Bleeding can be external (visible) or internal (where it is not seen).
The main concern about hemophilia is deep internal bleeding, especially in the ankles, elbows and knees. If unattended to, it can damage one’s organs and can be life-threatening.
There are two major kinds of hemophilia: hemophilia A and hemophilia B.
Hemophilia can also be mild, moderate, or severe, based on the amount of the clotting factor in the blood:
A person with severe hemophilia is at risk for bleeding problems much more often while a person with mild hemophilia may bleed too much only once in a while.
What is the difference between hemophilia A and hemophilia B?
The most common type of hemophilia is called hemophilia A. This means the person does not have enough clotting factor VIII (factor eight). A less common type is hemophilia B. This person does not have enough clotting factor IX (factor nine).
The result is the same for people with hemophilia A and B: they both bleed for a longer time than normal.
How serious is hemophilia?
The severity of hemophilia depends on the amount of factor VIII or factor IX in the blood. There are three levels of severity: mild, moderate, and severe. People with severe hemophilia usually bleed frequently into their muscles or joints. They may bleed one to two times per week. Bleeding is often spontaneous, which means it happens for no obvious reason.
People with moderate hemophilia bleed less often, usually after an injury. Cases of hemophilia vary, however, and a person with moderate hemophilia can bleed spontaneously.
People with mild hemophilia usually bleed only as a result of surgery or major injury.
Hemophilia is diagnosed by taking a blood sample and measuring the level of factor activity in the blood. Hemophilia A is diagnosed by testing the level of factor VIII coagulation activity in the blood. Hemophilia B is diagnosed by measuring the level of factor IX activity. Some bleeds can be life-threatening and require immediate treatment.
A list of medications that can interfere with bleeding. People with hemophilia should not take aspirin (ASA or acetylsalicyclic acid), or anything containing aspirin, as well as other NSAIDs, because they interfere with the stickiness of platelets and can make bleeding problems worse. They should also avoid rigorous sports that can incur injuries and deed wounds.
Is there a cure for hemophilia?
There is no cure for hemophilia. Gene therapy remains an exciting possibility and holds out the prospect of a partial or complete cure. There are many technical obstacles to overcome, but research currently underway is encouraging. Technically, a liver transplant can cure hemophilia, since coagulation factors are produced by cells inside the liver. However, the risks of surgery and the requirement for lifelong medication to prevent rejection of the transplanted organ may outweigh the benefits.
Signs and symptoms vary, depending on the level of clotting factors. If your clotting-factor level is deficient, you may experience spontaneous bleeding. Signs and symptoms of spontaneous bleeding include:
- Pain, swelling or tightness in your joints
- Blood in your urine or stool
- Nosebleeds without a known cause
- Unexplained and excessive bleeding from cuts or injuries, or after surgery or dental work
- Many large or deep bruises
- Unusual bleeding after vaccinations
- In infants, unexplained irritability
- Bleeding into the brain
A simple bump on the head can cause bleeding into the brain for some people who have severe hemophilia. This rarely happens, but it’s one of the most serious complications that can occur. Signs and symptoms include:
- Painful, prolonged headache
- Repeated vomiting
- Sleepiness or lethargy
- Double vision
- Sudden weakness or clumsiness
- Convulsions or seizures
Seek emergency care or see the doctor if you notice any of these symptoms in you or your child.
Signs and Symptoms in children
Symptoms of hemophilia vary, depending on the amount of clotting factor a person has and the location of the bleeding.
External bleeding is easy to notice. A child may bleed more than usual after scraping the knee, getting a paper cut, losing a tooth (or having one removed), or biting down on the lips or tongue. Nosebleeds may last a while.
Internal bleeding is harder to identify if you don’t know the signs. These include bruising (especially bruising with swelling), redness, or tenderness in an area, especially a muscle or joint (like the knee). Kids with hemophilia usually can tell when internal bleeding is happening. They often describe a “bubbly” feeling in an area like a joint. The area also may feel achy, stiff, or warm to the touch.
Babies with hemophilia can’t say how they feel, but they do give signs. Once they begin crawling and cruising, parents may notice raised bruises on the stomach, chest, buttocks, and back. A baby also may be fussy and not want to reach for a cup, walk, or crawl.
Causes of Hemophilia
The body naturally protects itself when there’s an injury. It pools sticky blood cells called platelets go to where the bleeding is and these form a clot to stop the bleeding. The clotting process is facilitated by certain proteins called blood factors. It is a deficiency in one of these factors that causes hemophilia.
Complications of hemophilia may include: internal bleeding, infection, joint damage, etc.
Hemophilia is a lifelong condition with no cure other than liver transplantation, a procedure that can sometimes cause health problems more serious than hemophilia itself.
But hemophilia can be successfully managed by knowing when and how to treat a bleeding episode, and getting regular treatments that replace the missing clotting factor.
Factor Replacement Therapy
Factor replacement therapy helps blood to clot and prevents long-term joint damage due to bleeding. It can be given while a bleeding episode is happening to promote clotting, or in regularly scheduled treatments to keep the blood healthy.
Treating an External Bleed (in Children)
In most kids with hemophilia, everyday cuts and scrapes can be treated with common first aid measures. The important thing is to give treatment right away (which may include giving a treatment of clotting factor therapy, if needed). Keep all necessary items handy (like a first aid kit) at school, home, and in the car. Also, make sure that all caregivers know what to do in an emergency.
For small (superficial) cuts and scrapes, rinse the cut or wound with water and apply pressure with sterile gauze, a bandage, or a clean cloth. If the bleeding does not stop, your child may need a treatment of factor replacement therapy. If you cannot give it, take your child to the doctor’s office or hospital right away for treatment.
Severe cuts usually require a treatment of factor replacement therapy. If the cut is severe and you can’t get your child to a hospital right away or must wait for an ambulance, do the following:
Rinse the cut or wound with water and apply pressure with sterile gauze, a bandage, or a clean cloth.
If blood soaks through the bandage, place another bandage over the first and keep applying pressure.
Raise the injured body part to slow bleeding.
When bleeding stops, cover the wound with a new, clean bandage.
Your child may bleed more in some situations than in others, especially when certain areas of the body are affected. Ask your doctor about these situations so that you know what to expect and can be prepared.
Treating an Internal Bleed
Internal bleeding must be treated promptly with factor replacement therapy. Prolonged bleeding can cause serious health problems. For example, a buildup of blood in the joints can wear down the smooth surfaces that allow limbs to bend easily. As the surfaces roughen, irritation and the number of bleeds can increase. This cycle can lead to chronic joint damage that may require surgery to remove the damaged joint tissue.
Learn the signs of an internal bleed, and ask your doctor what to look for. An older child should be encouraged to always tell you when he or she senses a bleed — the sooner it is discovered, the quicker your child can get treatment.
If your child has an internal bleed, give factor replacement therapy treatment if you’ve been instructed to do so by your doctor, or go to the hospital. Doctors recommend splinting the affected area for a short period of time and then applying ice to ease inflammation, promote clotting, and relieve pain.
Preventing Bleeding Problems
Parents can help kids with hemophilia prevent problems by encouraging healthy behaviors, including:
Regular exercise. Exercise can strengthen muscles and help decrease bleeding from injuries. Swimming is a great sport for kids with hemophilia because it exercises all the muscle groups without putting stress on the joints.
Keeping a healthy weight. Extra weight can strain parts of the body and increase bleeding risks. If your child is overweight, speak to your doctor for advice on weight management.
Caring for the teeth. Make sure that your child is brushing his or her teeth twice a day, flossing regularly, and drinking fluoridated water to keep the teeth as healthy as possible. This will make it less likely for the gums to bleed or for your child to need dental surgery. Routine cleanings can sometimes cause bleeding. Find a dentist who has experience with patients who have hemophilia and who knows how to handle bleeding if it happens.
To help prevent bleeding problems, doctors use caution when treating children with hemophilia. For example, when giving immunization shots that are normally given in the muscle, doctors instead inject the shots into a deep area under the skin called the subcutaneous tissue. It’s important to remember that kids with hemophilia need all recommended vaccines.
Many patients with severe hemophilia prevent “bleeds” with regular clotting factor infusions (usually two or three times per week). Some young children get a central venous catheter (a hollow, soft tube) inserted surgically into a vein, which lets them get clotting factors without pain.
When to Call the Doctor
Certain bleeds need medical attention. If your child develops a swollen joint, this could be a sign of bleeding in the joint, so call the doctor right away. Also, if your child gets hurt or you suspect your child has bleeding or bruising anywhere on the body, call the doctor.
If your child has a central venous line and develops a fever, call the doctor right away. This could be a sign of a central line infection.
Go to the emergency room if your child has:
- an injury to the head, neck, belly, or back
- bleeding that is not stopping
- severe belly pain or difficulty moving
- red or tea-colored urine
- bloody or black poop
- If the bleed requires going to the emergency room, make sure your child is treated at a hospital that has experience treating hemophilia.
Hemophilia Myths and Facts
Like for breast cancer and other ailments, there are myths around hemophilia. It’s important to note these myths and what the actual facts are, so you can better understand hemophilia and how to deal with it.
Hemophilia is the same for all patients
Hemophilia is not the same for all patients. People can have hemophilia A, which is defined by low levels of clotting factor VIII (8), or hemophilia B, defined by low levels of clotting factor IX (9). The severity of the disease can be categorized as mild, moderate, or severe.
People with hemophilia can’t do sports or even live normal lives
Some people with hemophilia avoid exercise and sports because they think it may trigger bleeding, but exercise can actually help prevent them. Strong muscles help protect someone who has hemophilia from spontaneous bleeds and joint damage. Sport is also important but weigh the risks before engaging in one. Some sports are riskier than others and highly not recommended, e.g. boxing, rugby, etc. With proper treatment, most people with hemophilia lead long, full, and productive lives.
A person with hemophilia will bleed to death even from a minor cut
It’s true that people with hemophilia bleed longer because their blood lacks or has little clotting factors but this does not necessarily mean they will bleed to death. Cases of minor cut will usually heal on their own.
Hemophilia causes aids
Hemophilia doesn’t cause HIV/AIDS.
All cases of hemophilia is genetic or hereditary
Hemophilia is caused by several factors and not all cases of hemophilia is hereditary.
Only males have hemophilia
While many people assume hemophilia affects only males, females who are carriers can also suffer from bleeding symptoms. Though extremely rare, a daughter who is born to a father with hemophilia and a mother who is a carrier can inherit the severe form of the disease.
Children with hemophilia will grow out of it
Hemophilia is a lifelong condition, a bleeding disorder caused by the absence of an essential blood clotting protein that has no cure. Children do not just grow out of it.