Hemophilia

Hemophilia is a rare inherited bleeding disorder. The blood of someone with hemophilia will not clot normally. Bleeding may occur spontaneously or following injury. Each year, about 400 babies are born with the disorder. People who have hemophilia may bleed for a long time after an injury or accident. They also may bleed into their knees, ankles and elbows. Bleeding in the joints causes pain and, if not treated, can lead to arthritis. Bleeding in the brain, a very serious complication of hemophilia requires emergency treatment.

Hemophilia occurs in 2 forms, hemophilia A and B. In both forms, a gene is defective. The defective gene interferes with the ability of the body to produce the clotting factors that allow for normal clotting. The result is a tendency for abnormal, excessive bleeding.

Hemophilia A occurs in 1 in 10,000 people. Hemophilia B occurs in 1 in 40,000.

With either disorder, you may show a mild form in which bleeding occurs only under severe stress, such as major injury.

Moderate cases rarely will have spontaneous bleeding but will bleed after surgery or trauma.

Severe cases will exhibit spontaneous bleeding-that is, bleeding without any recognizable trauma. Spontaneous bleeding can occur in any part of your body, but it is usually in the joints of the fingers, wrists, feet, and spine.

Hemophilia Causes

Men have only one X chromosome. If that chromosome carries the abnormal hemophilia gene, the man will have the disease hemophilia. Both hemophilia A and B are linked to the X chromosome, which means they primarily affect men.

Women possess two X chromosomes. The benefit is even if one of the X chromosomes carries the defective gene, the normal gene belonging to the other X chromosome will prevent the woman from hemophilia. In this way gene can’t do any harm to them, but they carry it and pass the disease on to their progeny.

If a woman becomes a carrier, there is a 50% chance of her sons having hemophilia. In the same way, she has a 50% chance that her daughters will be carriers of this disease. This is assumed that the woman\’s partner is not a hemophiliac.

A man having hemophilia has a 100% chance of his daughters being carriers, because it is obvious for them to inherit the defective X chromosome from the father. But in case the mother is not a carrier his son will not be affected.

The transmission of this gene to progeny involves 70% of the cases of hemophilia. The remaining 30% take place from impulsive changes in genes responsible for causing hemophilia.

Symptoms

If a kid has hemophilia, bleeding often occurs due to falls. The bleeding may recur if the fall causes disruption to a clot.

Blood in the urine, also known as hematuria, is common with hemophilia.

Many people will have minuscule presence of blood in urine and this is not visible with the naked eye.

Gross hematuria, in which one can see blood in urine, also is very common and may indicate an infection of bladder.

If you have hemophilia you cannot notice bleeding into muscle tissue and joints. But you will only have pain and may experience swelling too.

Bleeding into a muscle usually occurs due to trauma. Common sites of bleeding include the thigh, calf, and forearm.

Bleeding into joints is the most pathetic, as well as the most crippling aspect of hemophilia. The disease most commonly targets the knee followed by the elbow, ankle, shoulder, and wrist.

You may have a warm prickly feeling before you experience pain and inflammation in the joint. The intensity of swelling does not depend on the severity of your bleeding. You may bleed significantly with only a little swelling.

Bleeding into a joint not only makes that joint more susceptible to bleed in future but also causes progressive rigidity. This joint, which is now more vulnerable to bleed again, is termed as the target joint.

Bleeding into the central nervous system can be fatal. Generally only severe hemophiliacs show signs of such fatal bleeding, but it may happen in case of both moderate and mild hemophilia. Bleeding may take place in or around the brain (intracranial) or into the spinal cord (intraspinal), depending on the condition.

Injury to your head or spinal column is normally responsible for this bleeding. Your injury may appear minor.

About 50% of the cases indicate that adults are more likely to have intracranial bleeding even without injury (spontaneous bleeding). Headache, nausea, vomiting, and seizure are often accompanied by bleeding into the brain.

Bleeding in the Brain

Internal bleeding in the brain is a very severe complication associated with hemophilia that can take place after experiencing a simple knock on the head or a more severe injury.

The signs and symptoms of bleeding in the brain include:

Long-lasting, painful headaches or neck pain or stiffness
Repeated vomiting
Drowsiness or alterations in behavior
Sudden weakness or clumsiness of the arms or legs or difficulty in walking
Double vision
Convulsions or seizures

Exams and Tests

A family history of bleeding disorders helps diagnosing hemophilia. But specific tests help gauge the severity of the disease.

You also may ask for a physical examination and blood tests to detect hemophilia. Blood tests are carried out in order to find out:

The duration required for clotting your blood

Whether your blood contains low levels of any of the clotting factors

Whether one of the clotting factors is absolutely missing from your blood

In this way the test results will help detect whether you have hemophilia, and if the result is positive then 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.

Types	% of Clotting Factors
Mild Hemophilia	5–30% of normal clotting factor
Moderate Hemophilia	1–5%of normal clotting factor
Severe Hemophilia	Less than 1% of normal clotting factor

Hemophilia Treatment

Home Care
Hemophilia needs proper medical treatment in order to avoid further complications. But some measures can be taken at home to relieve some discomfort:

Avoid aspirin and anti-inflammatory agents such as ibuprofen (Advil) because they may further disrupt blood coagulation.

If you spot blood in your urine, drink plenty of fluids to hydrate yourself.

Apply ice and place a splint on swelled up joints after bleeding to ensure relief from symptoms.

If you have undergone the training on the disease process, you may provide yourself with factor replacement therapy. But it should be done after having a discussion with your doctor.

Treatment with Replacement Therapy

The key treatment for hemophilia is known as replacement therapy in which concentrates of clotting factor VIII (for hemophilia A) or clotting factor IX (for hemophilia B) are slowly dripped in or injected into a vein through a thin needle. These infusions successfully replace the missing or low clotting factor.

Clotting factor concentrates can be prepared from human blood that has been treated to check the spread of diseases, like hepatitis. Due to the current procedures of screening and treating donated blood, the risk of having an infectious disease from human clotting factors is very low.

To further lessen that risk, you or your child may take clotting factor concentrates that are not made from human blood. These are clinically termed as recombinant clotting factors.

It is quite easy to store, mix, and use clotting factors at home- it only requires about 15 minutes receiving the factor.

You may have to receive replacement therapy on a daily basis in order to check bleeding. This is termed as preventive or prophylactic (PRO-fih-lac-tik) therapy. Or, you may only require replacement therapy to impede bleeding when it actually occurs. This kind of use of the treatment, on an as-needed basis, is known as demand therapy.

Complications of Replacement Therapy

Complications of replacement therapy include:

Development of antibodies (proteins) acting against the clotting factor
Development of viral infections from human clotting factors
Damage to joints, muscles, or other sections of the body due to delays in treatment

1. Antibodies to the clotting factor:

Antibodies can interfere with the clotting factor before it has been put to an action. This is really a very severe problem as it prevents the chief treatment for hemophilia (replacement therapy) from working.

Antibodies to clotting factor, also termed as inhibitors, develop in about 20% of people having severe hemophilia A and 1% of people experiencing hemophilia B.

When antibodies build up, doctors may suggest larger doses of clotting factor or experiment with different clotting factor sources. Sometimes, the antibodies depart automatically.

2. Viruses from human blood factor:

Clotting factors can carry the viruses causing HIV/AIDS and hepatitis. However, no recognized case of these viruses being transmitted during replacement therapy has taken place for about a decade. But the transmission of viruses can be prevented by:

Careful screening of blood donors
Thorough examination of the donated blood products
Treating donated blood products with a detergent and heat to kill viruses
Vaccinating people having hemophilia on time in order to prevent them from
hepatitis A and B

3. Damage to joints, muscles, and other parts of the body:

Damage resulting from delays in treatment can include following conditions:
Bleeding into a joint- if this happens frequently, it may bring about changes
in the shape of the joint and impair function.
Swelling of the membrane surrounding a joint.
Pain, swelling, and redness of a joint.
Pressure on a joint from swelling, which may even affect the joint miserably.

Medication

Giving a medicine called DDAVP (Octostim) may raise levels of Factor VIII and Von Willebrand factor; for the time being. But the medicines will not be so effectual in serious cases of hemophilia or in hemophilia B. DDAVP usually is injected or used as nasal spray. As the effect of this medicine no longer remains as strong when used often, it\’s prescribed to treat certain situations. For instances, you may take this medicine before doing any dental work or playing certain sports to prevent or decrease bleeding.

Minocaproic acid (Amicar) and tranexamic acid (Cyklokapron) help your clotting by slowing down the rate of constant destruction of clots. These medications are effective in treating oral bleeding in either hemophilia A or B.

You may also be given an IV infusion of factor.

The infusion of purified Factor VII or IX depends on the type of hemophilia you have.

Doctors decide upon the amount to be given at the site of your bleeding and also consider how much you weigh. The site of your bleeding will also indicate the number of days you must be given the factor.

Researchers are curious enough to find means to correct the defective genes responsible for hemophilia. Such gene therapy hasn\’t yet developed to the point that it can be considered as a standard treatment. But researchers keep on revising gene therapies for hemophilia in clinical trials.

Coping with Hemophilia

Tips for the children diagnosed with Hemophilia

Tap into resources at a designated hemophilia treatment center: all-inclusive hemophilia treatment centers are situated throughout the world. Many experts at these centers can work with you and your family doctor to produce personalized strategy in order to manage hemophilia and reduce your risk of complications.

Consult with a counselor: If your baby or child has hemophilia, you may be concerned about maintaining the proper balance between keeping your child safe and at the same time encouraging indulgence in as much normal activities as possible. A social worker or therapist or medical support team having knowledge of hemophilia can help you manage your fears and recognize the minimum limitations essential for your child. Ask your doctor to propose a mental health professional or a support group that can assist you in need.

Let people know: Do not hesitate informing anyone who will be taking care of your child about your child’s condition — a baby sitter, workers at your child care center, relatives, friends and teachers. Because it\’s also good enough to let your child engage in sports devoid of body contacts, therefore you must inform the coaches too.

Comfort your child: Stay calm and encourage your child during injections and infusions. Encourage and praise your child once the treatment is complete.

Healthy Behaviors: You can help your child with hemophilia avoid problems by encouraging healthy behaviors such as; exercises that can strengthen muscles and help reduce bleeding from injuries, Swimming is also strongly encouraged as it makes all the muscle groups to exercise without exerting stress on the joints.

Your child\’s weight should also be maintained properly. Overweight may result in strain in parts of the body. If your child is overweight, seek advice from your doctor on weight management.

The Future

In the developed countries incredible advances have been made in the sphere of treating persons with hemophilia (PWH). This enables most patients to lead full, healthy lives with watchful management of their condition.

The production of clotting factors in the laboratory has nearly eliminated the risk of transfusion-related infection with HIV or hepatitis viruses from clotting factor replacement therapy. And regular home-based infusions have helped decrease chronic joint problems.

In the future, people with hemophilia may be able to access constant infusion of clotting factors under the skin or in form of pill. Some doctors are also encouraged by research relating gene therapy. This is only because of such advancement that kids with hemophilia can now take part in various types of sports and have the liberty to lead more active lives.