Understanding Hemophilia

Hemophilia is a rare blood disorder, which prevents the  The blood usually is lacking the sufficient blood clotting proteins. Individuals with hemophilia may bleed for a longer period after an injury because the blood is not clotting normally.

In most cases small cuts and scratches are not usually problems. The greater health concerns stem from internal bleeding, particularly in the elbows, knees, and ankles. Internal bleeding can lead to organ and tissue damage, causing it to be a life-threatening occurrence.

Hemophilia is an inherited genetic disorder, Today there is no cure. However with proper care and treatment. Most people with hemophilia can live productive and active lives.

about_hemophilia_aWhat are the Symptoms of hemophilia?

The symptoms of hemophilia can vary depending on clotting factors. IF your clotting factor level is severe, you might experience spontaneous bleeding, If your clotting factor level is mildly reduced, you may bleed only after trauma or surgery.

Symptoms of spontaneous bleeding are:

  • Excessive bleeding from cuts, injuries or after dental work, or surgery.
  • Many large and dark bruises
  • Pain, swelling and tightness within the joints.
  • Blood in the stool or urine
  • Nosebleeds without cause
  • In Infants unexplained irritability.
  • Unusual bleeding after vaccinations.

hemophiliaEmergency Signs of Hemophilia include:

  • Experience sudden pain and swelling, warmth in large joints, such as the shoulders,
  • elbows, hips, knees and in your arm and leg muscles.
  • Bleeding from an injury if your have severe hemophilia.
  • Repeated vomiting,
  • Extreme fatigue
  • Neck pain
  • Double Vision
  • Painful and prolonged headaches.

When Should You Consult a Doctor?
If there is prolonged bleeding after circumcisions, it may be an indication that the baby boy has hemophilia. In boys who are not circumcised, or in baby girls easy bruising when the child becomes more mobile can lead to a diagnosis. The first episode of bleeding occurs by the time a child has reached two years old.

If your child seems to bruise easily, you should contact your doctor, if your child has heavy bleeding, that can not be stopped after an injury, you should seek emergency medical care.

hemophilia symptomsIf you are are a pregnant woman, and your family has a history of hemophilia, you should consult your doctor. You may be recommended to a specialist in genetics or bleeding disorders who can help determine if you carry the hemophilia gene. If you are it may be possible to determine if the fetus has hemophilia.

What Causes Hemophilia?

When the body bleeds, it normally pools blood cells together to form a blood clot, to stop the bleeding. The clotting process happens due to certain particles in the blood called platelets and plasma proteins. Hemophilia occurs when there are not enough of one of these blood particles.
Hemophilia is an inherited disease, although 39% of people with hemophilia do not have any family history of the disorder. These people have hemophilia due to a change in the genetic tissue called spnotaneous mutation.

There are multiple types of hemophilia. It is classified by which clotting factor is defective.

Hemophilia A – This is most common type due to aFacor of VIII insufficiency in the clotting factor.
Hemophilia B is the second most common. This caused by an IX clotting factor insufficiency
Hemophilia C is a mild occurrence, which has a clotting factor of XI.

genehemophiliaHemophilia inheritance
Everyone has two sex chromosomes, one from each parent. A female inherits the X chromosome from the mother and an X chromosome from her father. A male receives an X chromosome from the mother and a Y chromosome from his father.
Hemophilia inheritance is determined by the type of hemophilia.
Hemophilia A or B. The gene that determines it be located on the X chromosome, thus it can not be passed from father to the son, Hemophilia A or B almost always happens in boys and is passed from the mother to the son, via the mother’s genes. Most women with defective gene are the only carrier and will have not signs or symptoms of hemophilia. A woman can experience bleeding symptoms if the factor is VIII or IX is moderately reduced.
Hemophilia C is passed on to the child by either parent and Hemophilia occurs in both boys and girls.

Complication from Hemophilia include:

Deep internal bleeding can occur within the deep muscle, which can cause the body’s limbs to swell. The swelling may press against nerves within will lead to pain or numbness.
Damage to joints, Internal bleeding, will result in pressure against the joint, which can cause severe pain. If this is not treated, internal bleeding may cause the destruction of the joint and arthritis.
Blood infections from transfusions – Since people with hemophilia are much more likely to have a blood transfusion; there is an increased risk of receiving contaminated blood. Due to testing and screening of donated blood for hepatitis and human immunodeficiency virus (HIV) after the 1980s, blood is now much safer. The risk of infection is much lower overall, due to recombinant factor concentrations that work as genetic clotting products.
Negative Reaction to clotting factor treatment. In some individual with hemophilia, the immune system will react in a negative way by developing inhibitor proteins that well make blood clotting factors inactive, reducing the effectiveness of the treatment.

Test and Diagnosis

If someone have a family history of hemophilia, it can be can check and determined during pregnancy if the fetus has hemophilia. The test, however, does pose a risk to the fetus. This should be discussed with the doctor.

Standard blood test for children and adults can indicate clotting factor deficiencies. On average diagnoses of hemophilia happens at the age of 9 months. Mostly all cases are diagnosed by the age of 2 Mild hemophilia may be diagnosed during surgery or if excessive bleeding is experienced.

Treatments for Hemophilia

Today there is no cure for hemophilia, but most people can live normal lives.

Treatment for bleeding episodes

There are several different therapies to stop bleeding depending on the type of hemophilia:

Mild hemophilia A. Inserting a slow injection of the hormone desmopressin (DDAVP) into a vein will increase stimulation to release more clotting factor to stop bleeding. Sometimes, DDAVP is given as a nasal medicine.
Average to serious hemophilia A or hemophilia B. Bleeding may stop only after an infusion of recombinant clotting factor or clotting factor obtained from donated human blood. Continued injections may be required if internal bleeding is severe.
Hemophilia C. Clotting factor XI, the factor is not available in this type of hemophilia, it is available only in Europe. In the United States, plasma infusions are required to stop bleeding episodes.

Ongoing treatment

Your doctor may recommend:

Regular infusions of DDAVP or clotting factor. The injections can help prevent bleeding. This method may lessen time spent in the hospital and limit side effects such as injury to joints. Your doctor can show you how to administer the infusions.

Clot-preserving medications (antifibrinolytics). These drugs help prevent clots from breaking down.
Fibrin sealants. These drugs can be administered directly to wound sites to promote clotting and healing. Fibrin sealants are particularly useful in dental therapy.

Physical therapy. It can relieve signs and symptoms if internal bleeding has damaged your joints. If internal bleeding has caused severe damage, surgery may be needed.

First aid for minor cuts. Using force and a gauze will take care of the bleeding. For small areas of bleeding underneath the skin, use an ice pack. Ice can be used to slow down minimal bleeding in the mouth.

Vaccinations. Although blood products are screened, it is still possible for people who rely on them to contract diseases. If you have hemophilia, think about receiving immunization against hepatitis A and B.

Health Life Media Team