HIV & Hemophilia: Introduction

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What Is Hemophilia?

Hemophilia is a disorder in which one of the plasma proteins needed to form a clot is missing or reduced. The most common type of hemophilia is factor VIII deficiency, or hemophilia A. The second most common type is factor IX deficiency or hemophilia B.

When a person with hemophilia is injured, he does not bleed harder or faster than normal, but will have prolonged bleeding because he cannot make a firm clot. Small cuts on the skin are usually not a problem, but bleeding in any deeper area can be prolonged. Some bleeding episodes occur as a result of injury, but many occur seemingly without cause.

How Common Is Hemophilia?

Estimates indicate that approximately one in 10,000 males born in the US has hemophilia. All races and socio-economic groups are affected equally.

How Does Someone Get Hemophilia?

Hemophilia is a sex-linked hereditary bleeding disorder transmitted on a gene of the X chromosome. You can not catch hemophilia as you catch a cold. It is something that some people are just born with.

There is also a very rare condition known as acquired hemophilia. This is a spontaneous formation of an antibody against Factor 8. This autoimmune situation renders a person a hemophiliac with only slight differences from "congenital" hemophiliacs.

Among the genes and chromosomes (hereditary messengers) we inherit from our parents are two sex chromosomes, labeled X and Y. A woman inherits two X chromosomes, one from her mother and one from her father. This makes her female. A man inherits one X chromosome from his mother and a Y chromosome from his father, instead of a second X. This makes him male. If all of a person's X chromosomes have the hemophilia gene, then that person will have hemophilia. The condition is much less common in women than in men.

In some cases hemophilia is "hidden" for many generations if no affected male children are born. The gene for hemophilia in such cases is carried through several generations of females who, because they have a second X chromosome that is normal, do not suffer from the disease themselves. Other cases may have no family history, meaning that the change in the X chromosome is a new one. This would be a mutation of the gene.

Most mothers of children with hemophilia, however, have fathers, grandfathers, brothers or other male relatives on the maternal side of their families who were born with hemophilia. Very rarely, a female with hemophilia is born if her mother is a carrier and her father has hemophilia.

Symptoms and Treatment of Bleeding Episodes

Bruises
Babies with hemophilia usually have no difficulty during the birth process, however circumcision may produce prolonged bleeding.

During the first few months of life, a baby with hemophilia has few problems because his ability to move around is limited. As he learns to walk he will fall and sustain many small, superficial bumps and bruises. Bleeding into soft tissue area of the arms and legs is frequent and usually not serious. Superficial bruises are seen easily and are often raised, but usually do not require treatment. (These lumps may feel warmer than surrounding tissue. Observe the area carefully to determine if a hard lump develops underneath.)

Deep Muscle Bleeding
As a child with hemophilia matures, he is more active and will have more bleeding episodes. The first sign of bleeding deep in a muscle may be a reluctance to use the limb. He may become irritable as bleeding continues. When you notice any of these symptoms, examine the limb carefully but do not attempt to move it forcibly if the person resists. Examine the opposite limb at the same time to detect possible differences in swelling and/or skin temperature.

Beware of a complaint from an older child of "pulled muscles". These are often confused with deep muscle bleeding. A pulled muscle complaint is always to be considered a deep muscle bleeding unless proven otherwise.

A bleeding episode in a muscle can spread through the muscle length, often without your noticing it. When muscle bleeding occurs in the forearm, calf or groin, swelling can create pressure on the the nerves which can result in numbness, and subsequent pain and inability to move the limb.

For this reason, it is important to have your hemophilia center check suspicious symptoms early until you become more experienced. Never feel that you may be wasting the staff's time; the doctor or nurse would much rather reassure you than have you fail to alarm them and hope it will go away. Deep muscle bleeding often requires follow-up treatment and observation by the center staff. Sling, splints or crutches may be necessary for support for several days.

Joint Bleeding
As the person with hemophilia grows, bleeding into his joints will occur more frequently. Early signs of bleeding are the reluctance to use the affected limb followed by a slight swelling in the affected joint. Attempts to move the joint forcibly cause pain. As more blood leaks into the joint it feels warmer than the opposite one and the swelling feels "spongy". Later the person holds the limb in a bent or "flexed" position to ease pain. Flexion increases the space in the joint, making more room for further bleeding to occur. If untreated, the bleeding continues until the area feels hot and rock hard. Usually there is no bruising associated with a joint bleed, and since the bleeding occurs in an enclosed space (the joint capsule) and has nowhere to spread, the pressure caused by the bleeding eventually results in pain -- which can be quite severe. Early treatment with clotting factor usually prevents the pain from becoming severe, and since only a small amount of blood will have leaked into the joint space, recovery will be quick, although the joint will sustain some permanent damage.

In addition to pain considerations, inadequately treated bleeding irritates the joint surface which eventually leads to arthritis. A large volume of blood, which results from delayed treatment, takes longer to re-absorb into the body. The longer the period of irritation, the greater the chance of arthritic damage. Early treatment of each bleeding episode will limit the amount of irritation and reduce the risk of arthritis. Strong muscles protect joints from some bleeding episodes. Therefore it is suggested that people with hemophilia exercise regularly.

Mouth Bleeding
Bleeding in the mouth can be troublesome and messy, but is usually minor as long as there is no swelling of, or bruise, under the tongue. Blood mixed with saliva may make the bleeding look much worse than it actually is. Don't panic.

Adolescents and Adults
Older persons with hemophilia will know when they are bleeding, long before there is any externally noticeable symptom. While it does depend on the individual, one can expect a grown person with hemophilia to manage their own condition and treatment effectively in most cases.

If a person with hemophilia becomes unconscious, it is imperative to seek medical attention for them immediately. Make sure the medical personnel are informed that the person has hemophilia, and that they understand what hemophilia means, and that it must be treated immediately. Many physicians do not understand hemophilia.

How Is Hemophilia Treated?

Current products used to treat hemophilia are either manufactured from fresh frozen plasma and cryoprecipate, which are from single blood donors and require special freezing, or are "freeze dried" factor VIII and fact IX concentrates.

These concentrates are made in large lots, come in small bottles and may be kept at room temperature or in the regular refrigerator. Some of the concentrates are made from large pools of donated plasma, and the newest (and most expensive) are made using recombinant gene technology. The recombinant factor is not made from human blood, however, it is manufactured using some human blood components, and other animal biological components. There is still risk involved in treatment with any of these products. However, not treating can be very painful, and lead to other serious problems.

All blood donors in the U.S. are tested for blood borne viruses and all blood products are tested for hepatitis and the virus that causes AIDS (HIV: Human Immunodeficiency Virus). In addition, concentrates are treated and purified in several ways to reduce the risk of hepatitis and virtually eliminate the risk of AIDS transmission. Monoclonal products are more pure than heated concentrates, and recombinant factor is considered the most pure.

All factor replacement products are infused into the veins (intravenously).

When clotting factor is administered the body begins to use it right away to form a clot. After 6-8 hours the body has "used up" about half of what was administered. Usually by this time most bleeding is well controlled. After about 24 hours the body has essentially used up all the clotting factor, at which time the clot is well established and the body begins to get rid of the blood which has leaked into the surrounding tissues, so that eventually the swelling subsides.

There are two important points to keep in mind:

A fresh bleeding episode can start if the clot becomes dislodged.
Natural reactions in the body cause a clot that is no longer needed to "break down" or to be dissolved. The processes begin approximately five days after the initial clot was formed and occasionally a bleed may restart at the site.

Follow Up Treatment
Sometimes, one infusion is not enough and your doctor may prescribe follow up treatment. There may also be occasions when you feel follow up treatment is indicated.

It is important to avoid aspirin which prolongs bleeding time in people with normal levels of factor VIII as well as in those with hemophilia. Many common household remedies such as ALKA-SELTZER^® contain this drug. Careful reading of the labels will reveal aspirin content. Acetaminophen is recommended as an aspirin substitute. It can be bought without a prescription under various brand names including TYLENOL^® and TEMPRA^®. A liquid form and chew-able tables are available. Acetaminophen is effective in reducing fever and relieving pain.

This introduction has been adapted from a pamphlet published by the National Hemophilia Foundation to provide information to new parents of a child with hemophilia.