Hemophilia

Hemophilia is an inherited bleeding disorder. The blood of someone with hemophilia will not clot normally. Bleeding may occur spontaneously or following injury.

Hemophilia occurs in 2 forms -

• Hemophilia A
• Hemophilia 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.

In mild form of hemophilia, bleeding occurs only under severe stress, such as major injury. In moderate form
Moderate form- rarely will have spontaneous bleeding but will bleed after surgery or trauma.
Severe form – will exhibit spontaneous bleeding-i.e- 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

What causes hemophilia

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 have two X chromosomes. Even if one of the X chromosomes carries the defective gene, the normal gene on the other X chromosome will protect the woman from hemophilia. The gene does not affect them, but they carry it and pass it on to their children.
If a woman is a carrier, she has a 50% chance that her sons will have hemophilia. Likewise, she has a 50% chance that her daughters will be carriers of hemophilia. This assumes that the woman’s partner is not a hemophiliac.

A man who has hemophilia has a 100% chance that his daughters will be carriers, since they must inherit the defective x chromosome from the father. His sons will not be affected if the mother is not a carrier.
The transmission of this gene to offspring accounts for 70% of the cases of hemophilia. The remaining 30% occur from spontaneous changes in genes responsible for causing hemophilia.

Symptoms

• If a toddler has hemophilia, bleeding often results from falls. The bleeding may repeat if the fall disrupts a clot.
• Blood in the urine (hematuria) commonly occurs with hemophilia.
• Many people will have microscopic blood in urine, not visible with the naked eye.
• Gross hematuria, blood you can see in urine, also is very common and may mean a bladder infection.

Bleeding into a muscle usually follows trauma. Common sites are the thigh, calf, and forearm.

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

You may feel a warm prickly sensation before you develop pain and swelling in the joint. The degree of swelling does not match the severity of your bleeding.

Bleeding into a joint not only makes that joint more likely to bleed in the future but also leads to progressive stiffness. This joint, which is now more prone to re-bleeding, is called the target joint.

Bleeding into the central nervous system can be life threatening. Usually only severe hemophiliacs exhibit such bleeding, but it may occur in both moderate and mild hemophilia. Bleeding may occur in or around the brain (intracranial) or into the spinal cord (intraspinal), depending on the situation.

Injury to your head or spinal column normally causes this bleeding. Your injury may seem minor.
Adults are more prone to having intracranial bleeding without injury (spontaneous bleeding), accounting for nearly 50% of the cases.
Headache, nausea, vomiting, and seizure often accompany bleeding into the brain.
Backache or even paralysis can accompany bleeding into the spinal column

When to Seek Medical Care

Call your doctor after any significant physical trauma.
Call your doctor also if you cannot control external bleeding with simple pressure.
Because you may have internal as well external bleeding, always err on the side of safety and call your doctor.
Be particularly concerned about bleeding into your joints or your central nervous system because of long-term complications and the possibility of death.
Because hemophilia treatment involves blood products, you often may need to be treated in an emergency department or other health care facility, especially if you have severe hemophilia.
Your doctor should evaluate any head or spinal trauma.
A severe hemophiliac should be evaluated at a hospital’s emergency department for any bleeding whatsoever, because his or her blood will not clot adequately on its own in these situations:

Oral bleeding

Bleeding from skin that does not stop with simple pressure
Bleeding from muscles and joints
Any person with hemophilia who has significant trauma anywhere on the body should be evaluated at a hospital regardless of the severity of the disease.
Exams and Tests

A family history of bleeding disorders aids in diagnosing hemophilia.
Pronounced bruising at childbirth or bleeding with circumcision may suggest a case of severe hemophilia.

A moderate case of hemophilia may become apparent during the toddler years when falls are common.
A mild case may not become evident until adulthood when you need surgery.
Blood tests can be performed if you have any reason to suspect hemophilia.
Blood may be checked directly for certain factors.
Test results will be low depending on which form of hemophilia you have.
In either case, your activated partial thromboplastin time (aPTT), a measurement of the clotting of blood, will be prolonged.

Self-Care at Home

Most often people with hemophilia require medical treatment if bleeding or an injury occurs. You can take the following simple actions at home.

Avoid aspirin and anti-inflammatory agents such as ibuprofen (Advil) because they may further interfere with blood clotting.

If you have blood in your urine, drink plenty of fluids to ensure hydration.
Apply direct pressure to any site at which you are bleeding externally.
Apply ice and put a splint on affected joints after bleeding to provide relief from symptoms.

If you have the training on the disease process, you can give yourself factor replacement therapy. But you should do so under consultation from your doctor.

Medications
Treatment of hemophilia aims to stop your bleeding. Doctors stop bleeding either by overcoming the deficiency in the clotting factors or by aiding in blood clotting.
Giving a medicine called DDAVP (Octostim) may increase levels of Factor VIII (8) temporarily. But the medication will not be effective in severe cases of hemophilia or in hemophilia B.
Aminocaproic acid (Amicar) and tranexamic acid (Cyklokapron) assist your clotting by slowing down the ongoing destruction of clots. These medications are useful in oral bleeding in either hemophilia A or B.
You may be given an IV infusion of factor.
You are given purified Factor VII or IX (9) depending on the type of hemophilia you have.
Doctors determine the amount to give you by where your bleeding occurs and how much you weigh. The site of your bleeding also will determine the number of days you must be given the factor
Those using blood-derived products are still at risk for getting hepatitis.
Hepatitis A can resist some purifying methods, but no hepatitis C transmission has been reported since 1997.
Doctors recommend that all people with hemophilia receive the hepatitis B vaccine.
Despite current treatments, people with hemophilia still undergo degenerative changes due to bleeding in the joints.
When repeated bleeding occurs, chronic swelling results in that joint. The swelling leads to degeneration of cartilage and bone.
Ultimately this process will cause chronic joint stiffness and pain…

Inputs provided by Dr. Manish Mohil, Consultant Internal Medicine at G M Modi Hospital, Saket.

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