Definition:
Hemophilia (heem-o-FILL-ee-ah) is a rare, inherited bleeding disorder in which your blood doesn’t clot normally. If you have hemophilia, you may bleed for a longer time than others after an injury. You also may bleed internally, especially in your knees, ankles, and elbows. This bleeding can damage your organs or tissues and, sometimes, be fatal.
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People born with hemophilia have little to none of a protein needed for normal blood clotting. The protein is called a clotting factor. There are several types of clotting factors, and they work together with platelets to help the blood clot. Platelets are small pieces of blood cells that are formed in the bone marrow. They play a major role in blood clotting.
When blood vessels are injured, clotting factors help the platelets stick together to plug cuts and breaks at the site of the injury to stop the bleeding. Without clotting factors, normal blood clotting can’t take place. Sometimes people with hemophilia need injections of a clotting factor or factors to stop bleeding.
There are two main types of hemophilia. If you have hemophilia A, you have little to no clotting factor VIII (8). About 9 out of 10 people with hemophilia have type A. If you have hemophilia B, you’re missing or have low levels of clotting factor IX (9).
Hemophilia can be mild, moderate, or severe, depending on how much clotting factor is in the blood. About 7 out of 10 people who have hemophilia A have the severe form of the disorder. People who don’t have hemophilia have a factor VIII activity of 100 percent; people who have severe hemophilia A have a factor VIII activity of less than 1 percent.
In addition to being inherited, hemophilia also can be acquired, which means that you can develop it during your lifetime. It can develop if your body forms antibodies to the clotting factors in your bloodstream. The antibodies can block the clotting factors from working. Only inherited hemophilia is discussed in this article.
Other Names for Hemophilia:
Hemophilia A
Classic hemophilia
Factor VIII deficiency
Hemophilia B
Christmas disease
Factor IX deficiency
Causes:
If you have inherited hemophilia, you’re born with the condition. It’s caused by a defect in one of the genes that determine how the body makes blood clotting factors VIII or IX. These genes are located on the X chromosomes (KRO-muh-somz).
Chromosomes come in pairs. Females have two X chromosomes, while males have one X and one Y chromosome. Only the X chromosome carries the genes related to clotting factors.
A male who has the abnormal gene on his X chromosome will have hemophilia. A female must have the abnormal gene on both of her X chromosomes to have hemophilia; this is very rare.
A female is a “carrier” of hemophilia if she has the abnormal gene on one of her X chromosomes. Even though she doesn’t have the condition, she can pass the gene on to her children.
Below are two examples of how the hemophilia gene is inherited.
Inheritance Pattern for Hemophilia—Example 1
The diagram shows one example of how the hemophilia gene is inherited. In this example, the father doesn’t have hemophillia (that is, he has two normal chromosomes—X and Y). The mother is a carrier of hemophilia (that is, she has one abnormal X chromosome and one normal X chromosome). Each daughter has a 50 percent chance of inheriting the abnormal gene from her mother and being a carrier. Each son has a 50 percent chance of inheriting the abnormal gene from his mother and having hemophilia.
Inheritance Pattern for Hemophilia—Example 2
The diagram shows one example of how the hemophilia gene is inherited. In this example, the father has hemophilia (that is, his X chromosome is abnormal). The mother isn’t a carrier of hemophilia (that is, she has two normal X chromosomes). Each daughter will inherit the abnormal gene from her father and be a carrier. None of the sons will inherit the abnormal gene from their father, and, therefore, none will have hemophilia.
Females who are carriers usually have enough clotting factors from their one normal X chromosome to prevent serious bleeding problems.
Very rarely, a girl is born with hemophilia. This can happen if her father has hemophilia and her mother is a carrier.
Some males with the disorder are born to mothers who aren’t carriers. In these cases, a mutation (random change) occurs in the gene as it is passed to the child.
Signs and Symptoms:
The major signs and symptoms of hemophilia are excessive bleeding and easy bruising.
Excessive Bleeding
The extent of bleeding depends on the type and severity of the hemophilia. Children with mild hemophilia may not have symptoms until they have excessive bleeding from a dental procedure, an accident, or surgery. Males with severe hemophilia may bleed heavily after circumcision. Bleeding can be obvious (external bleeding) or hidden within the body (internal bleeding).
Signs of excessive external bleeding include:
*Bleeding in the mouth from a cut or bite or from cutting or losing a tooth
*Nosebleeds for no obvious reason
*Heavy bleeding from a minor cut
*Bleeding from a cut that resumes after stopping for a short time
*Signs of internal bleeding include blood in the urine (from bleeding in the kidneys or bladder) and blood in the stool (from bleeding in the intestines or stomach).
Bleeding in the Joints
Bleeding in the knees, elbows, or other joints is another common form of internal bleeding in people with hemophilia. This can occur without obvious injury. At first, this bleeding causes tightness in the joint with no real pain or any visible signs of bleeding. The joint then becomes swollen, hot to touch, and painful to bend.
Swelling continues as bleeding continues, and eventually movement in the joint is temporarily lost. Pain can be severe. Joint bleeding that isn’t quickly treated can permanently damage the joint.
Bleeding in the Brain
Internal bleeding in the brain is a very serious complication of hemophilia that can happen after a simple bump on the head or a more serious injury. The signs and symptoms of bleeding in the brain include:
*Long-lasting painful headaches or neck pain or stiffness
*Repeated vomiting
*Changes in behavior or being very sleepy
*Sudden weakness or clumsiness of the arms or legs or difficulty walking
*Double vision
*Convulsions or seizures
Diagnosis:
If hemophilia is suspected or if you appear to have a bleeding problem, your doctor will take a personal and family medical history. This will reveal whether you or anyone in your family has a history of frequent and/or heavy bleeding and bruising. Your doctor also will do a physical exam and order blood tests.
Blood tests are used to determine:
*How long it takes for your blood to clot
*Whether your blood has low levels of any of the clotting factors
*Whether one of the factors is completely missing from your blood
*The test results will show if you have hemophilia, what type of hemophilia you have, and how severe it is.
Hemophilia A and B are classified as mild, moderate, or severe, depending on the amount of clotting factor VIII or IX in the blood.
*Mild hemophilia…….. 5–30 percent of normal factor
*Moderate hemophilia…. 1–5 percent of normal factor
*Severe hemophilia…… Less than 1 percent of normal factor
The degree of symptoms can overlap between the categories. For example, some people with mild hemophilia may have bleeding problems almost as often or as problematic as some people with moderate hemophilia.
Severe hemophilia can cause serious bleeding problems in babies. Therefore, children with severe hemophilia are usually diagnosed during the first year of life. People with milder forms of hemophilia may not be diagnosed until they’re adults.
The bleeding problems of hemophilia A and hemophilia B are the same. Only special blood tests can tell which type a person has. Knowing which type is important because the treatments are different.
Pregnant women who are known carriers of hemophilia can have the condition diagnosed in their unborn child as early as 10 weeks into their pregnancy.
Women who are hemophilia carriers also can have “preimplantation diagnosis” to have a child without hemophilia. For this process, women have their eggs removed and then fertilized by sperm in a laboratory. The embryos that result from this fertilization are then tested for hemophilia. Only embryos that lack the condition will then be implanted in the womb.
Treatment:
Treatment With Replacement Therapy:
The main treatment for hemophilia is called replacement therapy—giving or replacing the clotting factor that’s too low or missing. Concentrates of clotting factor VIII (for hemophilia A) or clotting factor IX (for hemophilia B) are slowly dripped in or injected into a vein.
Clotting factor concentrates can be made from human blood that has been treated to prevent the spread of diseases, such as hepatitis. With the new methods of screening and treating donated blood, the risk of developing an infectious disease from clotting factors taken from human blood is now very small.
To further reduce that risk, you or your child can take clotting factor concentrates that don’t use human blood. These are called recombinant clotting factors. Clotting factors are easy to store, mix, and use at home—it takes only about 15 minutes to receive the factor.
You may have replacement therapy on a regular basis to prevent bleeding. This is called preventive or prophylactic (PRO-fih-lac-tik) therapy. Or, you may only need replacement therapy to stop bleeding when it occurs. This use of the treatment, on an as-needed basis, is called demand therapy. Therapy that’s given as needed is less intensive and less expensive than preventive therapy. However, there is a risk that bleeding will cause damage before the as-needed treatment is given.
Complications of Replacement Therapy:
Complications of replacement therapy include:
*Developing antibodies, which are proteins that act against the clotting factors
*Developing viral infections from human clotting factors
*Damage to joints, muscles, or other parts of the body resulting from delays in treatment
Antibodies to the clotting factor. Antibodies destroy the clotting factor before it has a chance to work. This is a very serious problem, because it makes the main treatment for hemophilia—replacing clotting factors—no longer effective.
Antibodies to clotting factor develop in about 20 percent of people with severe hemophilia A and 1 percent of people with hemophilia B.
When antibodies develop, doctors may use larger doses of clotting factors or try different sources of the clotting factor. Sometimes, the antibodies go away. Researchers are studying ways to deal with antibodies to clotting factors.
Viruses from human blood factors. The viruses that cause AIDS (HIV) and hepatitis can be carried in clotting factors. However, there has been no documented case of these viruses being transmitted during replacement therapy for about a decade. Transmission of viruses has been prevented by:
*Careful screening of blood donors
*Testing of donated blood products
*Treating donated blood products with a detergent and heat to destroy viruses
*Vaccinating people with hemophilia for hepatitis A and B
*Researchers continue to find ways to make blood products safer.
Home Treatment With Replacement Therapy:
Both preventive and as-needed replacement therapy can be done at home. Many people learn to do the infusions at home for their child or for themselves. Home treatment has several advantages:
You or your child can get treatment quicker when bleeding happens. Early treatment means that fewer complications are likely to occur.
*Fewer visits to the doctor or emergency room are needed.
*Home treatment costs less than treatment in a medical care setting.
*Home treatment helps children accept treatment and take responsibility for their own health.
Discuss options for home treatment with your doctor or your child’s doctor. A doctor or other health care provider can teach you the steps and safety procedures for home treatment. Another valuable resource for learning about home treatment is hemophilia treatment centers (discussed under “Living With Hemophilia”).
Vein access devices can be surgically implanted to make it easier to get into a vein for treatment with replacement therapy. These devices can be helpful when such treatment occurs often. However, infections can be a problem with these devices. Your doctor can help you decide whether this type of device is right for you or your child.
Vein access devices can be surgically implanted to make it easier to get into a vein for treatment with replacement therapy. These devices can be helpful when such treatment occurs often. However, infections can be a problem with these devices. Your doctor can help you decide whether this type of device is right for you or your child.
Other Types of Treatment:
Desmopressin
Desmopressin (DDAVP) is a man-made hormone used to treat people with mild to moderate hemophilia A. DDAVP can’t be used to treat hemophilia B or severe hemophilia A.
DDAVP stimulates the release of stored factor VIII and von Willebrand factor and increases the level of these proteins in your blood. Von Willebrand factor carries and binds factor VIII, which then can stay in the bloodstream longer.
DDAVP usually is given by injection or in a nasal spray. Because the effect of this medicine wears off when used often, it’s given only in certain situations. For example, your doctor may have you take this medicine prior to dental work or before playing certain sports to prevent or reduce bleeding.
Antifibrinolytic Medicines
Antifibrinolytic medicines (including tranexamic acid and aminocaproic acid) may be used with replacement therapy. They’re usually given as a pill, and they help keep clots from breaking down. They’re most often used:
*Before dental work
*For treating bleeding from the mouth or nose
*For mild intestinal bleeding
Gene Therapy:
Researchers are trying to develop ways to correct the defective genes that cause hemophilia to cure the disorder. Such gene therapy hasn’t yet developed to the point that it’s an accepted treatment. But researchers continue to test gene therapies for hemophilia in clinical trials.
Which Treatment Is Best for You?
The type of treatment you or your child receives depends on several things, including how severe the hemophilia is, what activities you will be doing, and what dental or medical procedures you will be having.
*Mild hemophilia—Replacement therapy isn’t usually needed for mild hemophilia. But DDAVP is sometimes given to raise the body’s levels of factor VIII.
*Moderate hemophilia—You may need replacement therapy only when bleeding occurs or to prevent bleeding that could occur when participating in some activity. DDAVP is another treatment option on occasion, prior to having a procedure or doing an activity that increases the risk of bleeding.
*Severe hemophilia—You usually need replacement therapy to prevent bleeding that could cause permanent damage to your joints, muscles, or other parts of the body. Typically, replacement therapy is given at home two or three times a week. It may be needed on a long-term basis or just for short periods when you expect to do an activity that might increase your risk of bleeding. However, some people with severe hemophilia receive treatment only when bleeding occurs.
For all types of hemophilia, getting treatment quickly for bleeding to limit damage is important. Learn to recognize signs of bleeding. Family members also should learn to watch for signs of bleeding in a child with hemophilia. Children sometimes ignore signs of bleeding because they want to avoid the discomfort of treatment.
Living With Hemophilia:
If you or your child has hemophilia, you can take steps to prevent bleeding problems. Thanks to improvements in treatment, a child with hemophilia today is likely to live a normal lifespan.
Hemophilia Treatment Centers:
A nationwide network of hemophilia treatment centers (HTCs), funded by the Federal Government, is an important resource for
families and people affected by hemophilia. The medical experts in HTCs provide treatment, education, and support. They can teach you or your family member how to do home treatments. Center staff also can provide information to your doctor.
People who get care in HTCs are less likely than those who get care elsewhere to have bleeding complications and hospitalizations, and they’re more likely to have a better quality of life. This may be due to the centers’ emphasis on prevention of bleeding and the education and support provided to patients and their caregivers.
More than 100 federally funded HTCs are located throughout the United States. Many HTCs are located at major university medical and research centers. The hemophilia teams at these centers include:
Nurse coordinators
*Pediatricians and adult and pediatric hematologists (doctors who specialize in blood disorders)
*Social workers (who can help with financial issues, transportation, mental health, and other issues)
*Physical therapists and orthopedists (doctors who specialize in disorders of the bones and joints)
*Dentists
To find an HTC located near you, go to the directory of HTCs on the Centers for Disease Control and Prevention Web site. Many people with hemophilia go to an HTC for annual checkups, even if it means traveling some distance to do so.
At an HTC, you or your child may be able to participate in clinical research and benefit from the latest research findings about hemophilia treatment. The HTC team also will work with your local health care providers to help meet your needs or your child’s needs.
Ongoing Health Care Needs:
To avoid complications, it’s important that people who have hemophilia:
*Continue any treatment prescribed for hemophilia.
*Get regular checkups and vaccinations as recommended. Vaccines for hepatitis A and B are recommended for those who are treated with blood transfusions. There is currently no vaccine for hepatitis C.
*Get regular dental care. Dentists at the HTCs are experts in providing dental care for people who have hemophilia. If you
see another dentist, tell the dentist that you or your child has hemophilia. The dentist can provide medicine that will reduce bleeding during dental work.
*Know the signs and symptoms of bleeding in joints and other parts of the body and when to call the doctor or go to the emergency room.
Contact your doctor or go to the emergency room for:
*Heavy bleeding that can’t be stopped or a wound that continues to ooze blood.
*Any signs or symptoms of bleeding in the brain. Such bleeding is life threatening and requires immediate emergency care.
*Limited motion, pain, or swelling of any joint.
It’s a good idea to keep a record of all previous treatments. Be sure to take this information with you to medical appointments and to the hospital or emergency room.
When Your Child Is Diagnosed With Hemophilia
Expect emotional, financial, social, and other strains as you adjust to the situation of having a child with hemophilia. Learn all you can about the disorder and get the support you need.
*Talk with doctors and other health care providers about treatment, prevention of bleeding, and what to do in emergencies.
*Take advantage of the care teams at the HTCs for education and support as well as treatment. The social worker on the team can help with emotional issues, financial and transportation problems, and other concerns.
*Seek the many resources available through the Web, books, and other materials, including those provided by national and local hemophilia organizations.
*Look into support groups that offer a variety of activities for children with hemophilia and for family members. Some groups offer summer camps for children with hemophilia. Ask your doctor, nurse coordinator, or social worker about these groups and camps, or contact your local chapter of the National Hemophilia Foundation.
Challenges will occur as your child grows and becomes more active. In addition to treatment and regular health and dental care, your child needs information about hemophilia that’s at his or her level. Children with hemophilia also need to be reassured that the condition isn’t their fault and given support for having a chronic health problem.
Young children with hemophilia need extra protection from things in the home and elsewhere that could cause injuries and lead to bleeding:
*Protect toddlers with kneepads, elbow pads, and protective helmets. All children should wear safety helmets when riding tricycles or bicycles.
*Be sure to use the safety belts and straps in highchairs, car seats, and strollers to protect the child from falls.
*Remove furniture with sharp corners or pad them while the child is a toddler.
*Keep out of reach or locked away small and sharp objects and other items that could cause bleeding or harm.
*Check play equipment and outdoor play areas for possible hazards.
You also need to learn how to examine your child for and recognize signs of bleeding as well as prepare for bleeding episodes when they do occur. Keep a cold pack in the freezer ready to use as directed or to take along with you to treat bumps and bruises. Popsicles work fine when there is minor bleeding in the mouth. You also might want to keep a bag ready to go with items you will need if you must take your child to the emergency room or elsewhere.
Be sure that anyone who is responsible for your child knows that he or she has hemophilia. Talk with your child’s babysitters, daycare providers, teachers, other school staff, and coaches or leaders of afterschool activities about when to contact you or to call 9–1–1 for emergency care.
Consider having your child wear a medical ID bracelet or necklace. If your child is injured, the ID will alert anyone caring for your child about the condition.
Physical Activity and Hemophilia:
Physical activity helps keep muscles flexible, strengthens joints, and helps maintain a healthy weight. Children and adults with hemophilia should get regular physical activity, but they may have limits on what they can do safely.
People with mild hemophilia can participate in a variety of activities. Those with severe hemophilia should avoid contact sports and other activities that are likely to lead to injuries that could cause bleeding.
The physical therapist at the HTC can develop an exercise program tailored to your needs and teach you how to exercsafely. Talk with your doctor or physical therapist about recommended types of physical activity and sports.
To prevent bleeding, you also may be able to take clotting factors prior to exercise or a sporting event.
In general, some safe physical activities are swimming, biking (wear a helmet), walking, and golf.
Activities that aren’t usually considered safe for those with bleeding problems include most contact sports, such as football, hockey, and wrestling.
Medicine Precautions
Some medicines increase the chance for bleeding. You should avoid medicines such as:
*Aspirin and other drugs that contain salicylates (sa-LIH-sil-ates)
*Ibuprofen (EYE-boo-pro-fen), naproxen, and some other nonsteroidal anti-inflammatory drugs
Treatment at Home and When Traveling:
Home treatment with replacement therapy has many benefits. It lets you treat bleeding early before complications are likely to develop. Home treatment also can save you from having to make frequent trips to the doctor’s office or hospital. This can give you more independence and a sense of control over your hemophilia.
But if you’re treating yourself or your child with clotting factors at home, you should take some precautions:
*Follow instructions for storage, preparation, and use of clotting factors and treatment materials.
*Keep a record of all medical treatment.
*Know the signs and symptoms of bleeding, infection, or an allergic reaction, and how to respond appropriately.
*Have someone with you when you treat yourself.
*Know when to call the doctor or 9–1–1.
When you’re traveling, be sure to take enough treatment materials along. You should carry with you a letter from your doctor describing your hemophilia and treatment. It’s also a good idea to find out in advance where to go for care when out of town.
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You may Click to see:-> Latest Research : Haematology : Hemophilia
Cure Research list for Hemophilia
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Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose.
Sources:http://www.nhlbi.nih.gov/health/dci/Diseases/hemophilia/hemophilia_what.html
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