What Is Hemophilia ?
Hemophilia is a rare blood clotting disorder that stops blood from clotting properly. It occurs when the body produces insufficient amounts of a protein known as the clotting factor. After a cut or accident, clotting helps to halt the bleeding. Someone can bleed freely or for longer than usual if coagulation does not occur.
Small cuts are usually not a big deal. If you have a severe case of the disease, the greatest concern is internal bleeding, particularly in your knees, ankles, and elbows. Internal bleeding can harm your organs and tissues, putting your life in jeopardy.
Hemophilia is usually always caused by a genetic mutation. The lowered clotting factor is replaced on a regular basis as part of the treatment. Newer therapies are now being used that do not involve clotting factors.
Most people with hemophilia can benefit from a variety of medications to help them regulate their bleeding.
What are the causes?
Hemophilia is caused by a mutation or change in one of the genes that give instructions on how to make the clotting factor proteins that help blood clot. This alteration or mutation can cause the clotting protein to stop operating or go missing entirely. The X chromosome contains these genes. Females have two X chromosomes while males have one X and one Y chromosome (XY) (XX). The X chromosome is passed down from mothers to sons, and the Y chromosome is passed down from fathers to sons. Each parent gives a female one X chromosome.
Many genes found on the X chromosome are not found on the Y chromosome. This means that males have only one copy of most X chromosome genes, whereas females have two copies. As a result, if a male inherits an afflicted X chromosome with a mutation in either the factor VIII or factor IX gene, he can get hemophilia. Hemophilia can also affect women, but it is far less common. Both X chromosomes are afflicted in these circumstances, or one is deceased, but the other is absent or inactive. The bleeding symptoms in these women may be comparable to those in men with hemophilia.
Hemophilia “carriers” are females who have one affected X chromosome. Hemophilia symptoms might appear in a female who is a carrier. She can also pass the gene mutation- the clotting factor one- on to her children via the damaged X chromosome.
Despite the fact that hemophilia runs in families, some families have no previous history of hemophilia. By chance, there may be carrier females in the family, but no affected boys. However, the infant with hemophilia is around one-third of the time the first in the family to be impacted by a mutation in the clotting factor gene.
Types of hemophilia
Hemophilia can come in a variety of forms. The two most prevalent are as follows:
- Hemophilia A (Classic Hemophilia) is caused by a deficiency or reduction in clotting factor VIII.
- Hemophilia B is a blood disorder that affects people (Christmas Disease). The lack or reduction of clotting factor IX causes this kind.
What Are the Symptoms and Signs of Hemophilia?
Mild hemophilia (hee-muh-FIL-ee-uh) causes people to bleed for longer than usual following an injury or surgery. People with severe hemophilia may sometimes bleed for no apparent reason. Spontaneous bleeding is a type of bleeding that commonly occurs in a joint.
Hemophilia symptoms vary based on the amount of clotting factor a person has and where the bleeding occurs:
- A “bubbly” feeling in a joint might be followed by swelling, soreness, stiffness, and difficulty using the joint.
- When a muscle bleeds, it can result in discomfort, edema, warmth, and bruising.
- When a muscle or joint bleeds, babies and toddlers may be irritable or refuse to crawl or walk.
- Bleeding in the gastrointestinal tract might result in dark or bloody stool or blood in the vomit (vomit).
- Headaches, vomiting, lethargy, and seizures are all symptoms of brain bleeding.
Hemophilia can cause
- Joint bleeding can lead to chronic joint illness and pain.
- Bleeding in the head and, in certain cases, the brain can lead to long-term issues like seizures and paralysis.
- If the bleeding cannot be stopped or if it occurs in a vital organ such as the brain, death may result.
Who can get it?
Hemophilia is a blood disorder that affects people of all ages. Hemophilia is a blood condition caused by a genetic mutation. It occurs when a gene changes (mutates), which is usually inherited (passed from parent to child).
Boys are the ones that are most affected by hemophilia. With mild hemophilia A, however, girls and women can be hemophilia carriers. They may experience minor bleeding symptoms and are able to pass the gene on to their children.
How is it diagnosed?
Hemophilia is diagnosed in a variety of ways.
Doctors order blood tests to detect hemophilia, which include:
- a full blood count (CBC)
- time for prothrombin (PT)
- factor VIII activity test factor IX activity test activated partial thromboplastin time (PTT)
- Prenatal (before birth) testing with amniocentesis or chorionic villus sample can be done if hemophilia runs in the family. When the infant is born, a sample of blood from the umbilical cord is usually tested.
In the first six months of life, only a few babies are diagnosed with hemophilia. This is due to the fact that they are unlikely to sustain an injury that would result in bleeding. After circumcision, there may be bleeding, which might lead to a diagnosis.
If a child bruises easily and bleeds excessively when wounded as they get older and more active, a doctor may consider hemophilia.
What Is the Treatment for Hemophilia?
Children with hemophilia can receive comprehensive therapy at hemophilia treatment clinics. To find locations across the United States, go to the CDC’s website.
The medical treatment team for children with hemophilia usually consists of the following individuals:
- A hematologist is a doctor who specializes in the treatment of blood disorders (a doctor who treats blood conditions)
- a nurse who specialized in bleeding orthopedists’ conditions (doctors who care for bones, joints, and muscles)
Social workers and/or psychologists to help kids and parents cope with hemophilia. Physical therapists to aid with strengthening and stretching and joint health social workers and/or psychologists to help kids and parents cope with hemophilia.
Factor replacement therapy is the most common treatment for hemophilia. This provides the body with the necessary clotting factor. It is administered intravenously (IV, into a vein). Factor replacement can be done on a regular basis (known as prophylaxis) or as a treatment for bleeding. A few items are now available. Consult the hemophilia care team about treatment options.
It is possible to substitute a factor in the following ways
After being educated at a hospital or hemophilia treatment center at home by a nurse home by the person with hemophilia or someone else. During treatments (such as dental cleanings) and operations, doctors can also administer medications to assist reduce bleeding.
Inhibitors are produced by some people with hemophilia (antibodies to the clotting factor). Their bodies recognize the new clotting factor as an invader and produce antibodies to stop it from clotting. This can make hemophilia difficult to cure and necessitates the use of a separate factor replacement therapy.
What are the risk factors and complications?
The presence of hemophilia in one’s family is the most significant risk factor. Hemophilia is far more common in men than it is in women.
Hemophilia can cause a variety of complications, including:
- Internal bleeding that is severe. Swelling of the limbs can be caused by deep muscular bleeding. The swelling may put pressure on nerves, causing numbness or pain. It could be life-threatening depending on where the bleeding occurs.
- Bleeding from the mouth or nose into the throat or neck. This can make it difficult for a person to breathe.
- Joint deterioration. Internal bleeding can exert strain on the joints, resulting in excruciating discomfort. Internal bleeding, if left untreated, can lead to arthritis or joint degeneration.
- Infection. There is a higher danger of viral infections like hepatitis C if the clotting factors used to treat hemophilia comes from human blood. The danger is limited due to donor screening processes.
- Treatment with clotting factors causes an adverse response. The immune system reacts negatively to the clotting agents used to treat bleeding in some persons with severe hemophilia. When this happens, the immune system produces proteins that prevent the clotting factors from operating, reducing the effectiveness of treatment.
What Can Parents Do to Assist?
Assist your hemophiliac child is receiving the finest care and avoiding bleeding problems as much as possible. These pointers may be useful:
- Enroll your child in a treatment clinic for hemophilia.
- Attend all your regular doctor’s appointments.
- As indicated, take all prescription medications.
- Work with your medical team to figure out what to do if your child is hurt or bleeding.
- Follow the doctor’s advice on which activities or sports are safe and which should be avoided.
- Find a dentist as soon as possible. Brush your child’s teeth twice a day with fluoride toothpaste and floss at least once a day. Keeping your teeth healthy can help you avoid having to have dental work done.
- Before undergoing any operations (including dental visits), consult your doctor.
In addition, inform your child’s teachers, friends, and any caregivers that he or she has hemophilia. They should be aware of:
- How to Recognize Bleeding Signs
- when to contact the doctor when to go to the emergency room for small scrapes and cuts how to manage bleeding from minor scrapes and cuts when to call the doctor when to go to the emergency room for minor scrapes and cuts.
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