What is Hemophilia - Hemophilia Foundation of Oregon

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 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.

Where can I obtain further information and publications about hemophilia, von Willebrands, and other bleeding disorders?
Contact the Hemophilia Foundation of Oregon
Also, the National Hemophilia Foundation's HANDI offers an array of publications on topics of interest to the bleeding disorders community. See information below or go to their website for a detailed publication listing: