What is Hemophilia?

Hemophilia is a rare inherited blood disorder that causes less blood to flow, leading to an increased risk of bleeding or bruising.

Hemophilia occurs when your body doesn't make enough protein to help your blood clot. Clotting factors are proteins in the blood. They work with your platelets to form blood clots that stop bleeding. Low levels of clotting factors increase the risk of bleeding.

There are several types of hemophilia. Hemophilia can be severe, moderate, or mild depending on the amount of clotting factor in the blood.

Doctors treat this condition by replacing the missing clotting factor. There is no cure for hemophilia, but people who receive treatment usually live as long as people who do not have hemophilia. Physicians are exploring gene therapy and gene replacement therapy as new ways to treat and possibly treat hemophilia.

Can people get hemophilia?

Yes, but this rarely happens. Acquired hemophilia, or hemophilia that is not inherited, develops when autoantibodies begin to attack a specific clotting factor. (Antibodies are defense proteins that your immune system makes. Autoantibodies attack antibodies, essentially attacking your body's cells, tissues, and proteins.)

What are the types of hemophilia?

There are three types of hemophilia:

Hemophilia A: This is the most common type of hemophilia. This happens when you don't have enough clotting factor 8 (factor VIII).
Hemophilia B: Hemophilia B occurs when you don't have enough clotting factor 9 (factor IX).
Hemophilia C: Hemophilia C is also known as factor 11 (factor XI) deficiency. This type of hemophilia is very rare, affecting 1 in 100,000 people.

Is hemophilia a serious disease?

May be. People with severe hemophilia may develop life-threatening bleeding but are more likely to develop bleeding in muscles and joints.

What are the symptoms of hemophilia?

The most significant symptom is unusual or excessive bleeding or bruising.

People with hemophilia may develop large bruises after minor injuries. This is a sign of bleeding under the skin.
They can bleed for an unusually long time, whether it's bleeding from surgery, bleeding from dental work, or just bleeding from a cut finger.
They may start bleeding for no apparent reason, such as sudden nosebleeds.

How much bruising or bleeding a person has depends on whether they have severe, moderate, or mild hemophilia:

People with severe hemophilia often bleed or bleed spontaneously for no apparent reason.
People with moderate hemophilia who are severely injured may bleed for an unusual amount of time.
People with mild hemophilia may have unusual bleeding, but only after major surgery or injury.

Other symptoms may include:

Pain in the joints due to internal bleeding. Joints in the ankles, knees, hips, and shoulders may ache, swell, or be hot to the touch.
Hemorrhage in your brain. People with severe hemophilia very rarely develop fatal brain hemorrhages. A cerebral hemorrhage can cause persistent headaches, double vision, or make you extremely sleepy. If you have hemophilia and these symptoms, get help right away.

What are the symptoms of hemophilia in infants and children?

Sometimes babies assigned to a male at birth with hemophilia are diagnosed because they bleed more than usual after circumcision. In other cases, children show symptoms several months after birth. Common symptoms include:

Bleeding: Infants and toddlers may bleed from the mouth after minor trauma such as hitting a toy with the mouth.
Swollen bumps on the head: Babies and toddlers who hit their heads often get goose eggs - large, round bumps on their heads.
Irritability or refusal to crawl or walk: These symptoms may occur if infants and toddlers have internal bleeding into a muscle or joint. He may have areas on his body that look bruised and swollen, may be warm to the touch, or hurt your child when you gently touch the area.
Hematomas: A hematoma is a clot of frozen blood that collects under the skin of infants or toddlers. Babies and toddlers may develop bruising after injection.

What causes hemophilia?

Some genes create blood clotting factors. In hereditary hemophilia, the genes that carry the instructions for making normal blood clotting factors are mutated or altered. Mutated genes can provide instructions that eventually lead to the formation of abnormal clotting factors or deficiencies in clotting factors. However, about 20% of all cases of hemophilia are spontaneous, which means that someone has the disease even if there is no family history of abnormal bleeding.

How do people inherit hemophilia?

Hemophilia A and B are sex-linked diseases that are inherited in an X-linked recessive pattern. Here's how it goes:

Everyone receives one set of chromosomes from their biological mother and one set of chromosomes from their biological father. If you received an X chromosome from your mother and an X chromosome from your father, you are assigned girl at birth. If you received an X chromosome from your mother and a Y chromosome from your father, you are assigned boy at birth. In other words, the mother always passes on the X chromosome to her offspring. The father determines the sex assigned at birth by providing an X or Y chromosome.
If a woman has an abnormal factor gene on one of the X chromosomes, she is a carrier for hemophilia but may not have symptoms. This is because they have the normal factor gene on their second X chromosome.
If a woman carrying an X chromosome with a defective factor 8 (or factor 9) gene gives birth to a boy, that child has a 50% chance of inheriting the X chromosome that carries the gene for the abnormal factor.
If the same woman has a girl, that child has a 50% chance of inheriting the defective chromosome and the abnormal factor gene. This child will probably not have symptoms because she will also inherit a normal X chromosome from his father.
In other words, a woman who inherits a defective X chromosome and an abnormal factor gene will be a carrier of hemophilia. They may not have symptoms, but they can pass the disease on to their children. There is a 50 percent chance that any of their children, boys or girls, will inherit hemophilia. Boys who inherit hemophilia are more likely to have severe symptoms. This is because they do not receive a healthy X chromosome from their father.

Do women ever get symptoms of hemophilia?

They can, but these symptoms are usually mild. For example, a woman with the hemophilia gene may lack normal clotting factors or have insufficient clotting factors. When this happens, they may have unusually heavy menstrual periods and bruise easily. They may have increased bleeding after giving birth and may develop joint problems if they have internal bleeding in their joints.

How do doctors diagnose hemophilia?

The doctor will begin with a history and a complete physical examination. If you have symptoms of hemophilia, your doctor will ask about your family's medical history. Doctors may perform the following tests:

Complete Blood Count: Doctors use this test to measure and study blood cells.
Prothrombin time test: Doctors use this test to see how quickly your blood is clotting.
Activated partial thromboplastin time test: This is another blood test to determine the timing of blood clots.
Specific clotting factor test: This blood test shows the levels of a specific clotting factor (such as factor 8 and factor 9).

What are clotting factor levels?

Clotting factors help stop bleeding. Doctors classify hemophilia as mild, moderate, or severe depending on the number of clotting factors in the blood:

People who have 5% to 30% of the normal amount of clotting factors in their blood have a mild form of hemophilia.
People with clotting factor levels between 1% and 5% of normal have moderate hemophilia.
People with less than 1% of normal clotting factors have severe hemophilia.

How do doctors treat hemophilia?

They treat hemophilia by increasing levels of clotting factors or by replacing missing clotting factors (replacement therapy).

With replacement therapy, you receive human plasma concentrates or laboratory (recombinant) clotting factors. In general, only people with severe hemophilia need regular replacement therapy. People with mild or moderate hemophilia who need surgery may be given replacement therapy. They may also receive antifibrinolytics, drugs that prevent blood clots from breaking down.

Blood factor concentrates are made from donated human blood that has been processed and tested to reduce the risk of transmission of infectious diseases such as hepatitis and HIV. People receive replacement factors through an intravenous (IV) infusion.

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

What are the complications of treatment?

Some people on replacement therapy develop antibodies called inhibitors that attack the clotting factors that control bleeding. Doctors use a technique called immune tolerance induction. The induction of immune tolerance involves the daily administration of clotting factors to reduce the level of inhibitors. Immune tolerance induction can be a long-term treatment, and some people may need this treatment for months or years.

Can people prevent hemophilia?

No, they can't. If you have hemophilia and have children, your doctor may recommend genetic testing so that you and your children know if they can pass hemophilia on to their children.

If you have hemophilia, you will need treatment for the rest of your life. The amount of treatment you need depends on the type of condition you have, how severe it is, and whether you have any inhibitors.

How can I take care of myself?

People with hemophilia may need ongoing treatment to prevent bleeding. They may need to avoid certain activities and medications. But there are many things you can do to control the impact of hemophilia on your quality of life.

Actions to Avoid

Hitting, falling, and hitting other people hard can be serious problems for people with hemophilia. They may need to avoid activities that increase the risk of being hit or falling after being hit. Examples include:

Playing football, hockey or rugby.
Participating in boxing or wrestling.
Riding motorcycles.
Riding skateboards.

Participation in other sports such as football, basketball and baseball can increase your risk of injury. Ask your doctor what you can do, such as wearing protective gear to play these sports.

Medications to Avoid

Painkillers such as aspirin, ibuprofen, and naproxen are good at preserving blood. You should also avoid blood thinners such as heparin or warfarin.

Activities and actions to improve the quality of life

There are many things you can do to limit the impact of hemophilia on your quality of life:

Develop an exercise regimen: you can worry about injury during exercise. Talk to your doctor about ways to reduce your risk of bleeding while staying active.
Manage your stress: Hemophilia is a lifelong disease. You may need to put in extra effort to balance your commitments to family and work.
Maintain good oral hygiene: Brushing, flossing and regular dental visits reduce the risk of you needing dental treatment that can cause bleeding. Make sure your dentist knows about your condition.
Aim for a weight that's right for you: Managing your weight can help if you have trouble moving because internal bleeding has damaged your joints.
Educate those around you: If you have a severe form of hemophilia, you may have spontaneous bleeding that’s hard to control even if you’re taking medication. Make sure your family knows what to do if you have spontaneous bleeding. If your child has hemophilia, make sure doctors and school staff know what to do if your child has bleeding problems.