Typically, says Linda Price, she will get a panicked phone call from a neighbor or a teacher telling her that her 6-year-old son Gregory, a hemophiliac, has fallen and skinned his knee.
"I tell them, 'Just wash it off, give him a kiss and a Band-Aid and send him back outside,' " says Price.
"People think hemophiliacs will bleed to death if they cut themselves," Price notes. "That's the first misconception. Hemophiliacs don't bleed faster or harder than anyone else. They just bleed longer."
Price, treasurer of the Washington chapter of the National Hemophilia Foundation, has a brother who is also a hemophiliac. However, her older son shows no signs of the disease.
A genetic disorder in which a blood-clotting factor is missing, hemophilia affects one male out of every 5,000. It crosses all geographic, ethnic, racial and socioeconomic boundaries. Hemophilia has long been linked to European royalty, many of whose members suffered from it, years before treatment to promote blood clotting was developed, when bleeding to death was a real possibility.
The gene for the missing factor -- usually factor 8, sometimes factor 9, is found on the female X chromosome. Because women have two X chromosomes, a missing factor on one can be compensated for by the other. Males, however, have both X and Y chromosomes. If the factor is missing on their single X, they will have hemophilia.
The disorder is usually transmitted from mother to son. Daughters of afflicted men are always carriers but have no symptoms. Hemophilia acquired its royal connotation because Queen Victoria was a carrier and at least 10 of her descendants were either sufferers or carriers, a fact that affected male monarchs in Spain, Russia and England.
In about one third of all cases, hemophilia is apparently a spontaneous genetic mutation that occurs in families with no history of the disease. Once hemophilia occurs this way, it subsequently can be transmitted genetically.
In recent years, the population of hemophiliacs -- an estimated 25,000 to 30,000 Americans -- has been devastated by AIDS. Lifesaving advances in the way the missing clotting factor was administered to hemophiliacs -- through concentrates of factors 8 and 9 from the unscreened blood of thousands of donors -- made widespread infection with HIV inevitable.
Before AIDS, complications from hepatitis B, a blood-borne disease, accounted for about half of all hemophilia deaths. With proper treatment, hemophiliacs now have a normal life span.
Screening of the blood supply, heat treatment and pasteurization of clotting products have virtually eliminated the threat of AIDS. However, half of the 25,000 hemophiliacs in the U.S. test pos- A genetic disorder in which a blood-clotting factor is missing, hemophilia affects one male out of every 5,000.
itive for HIV and about 1,400 have already died from AIDS.
Sometimes, entire families are affected. A pediatric hematologist at a recent conference began his presentation with a slide: a photograph of a typical American family -- father, mother, two young children. The father was a hemophiliac who was infected by his treatment. He transmitted the disease to his wife, who gave birth to two children before she learned she was infected. Both babies had HIV. "They're all dead," the lecturer told his audience. The photo was taken in 1984.
Factor 8 blood products are now also fairly well protected against hepatitis contamination. But the estimated 5,000 American hemophiliacs who lack factor 9 are not so lucky. They face other complications.
According to Craig Kessler, a hematologist and oncologist who is a medical director of the National Hemophilia Foundation, three pure concentrates that would provide better protection for that group have been awaiting approval by the Food and Drug Administration for months.
Price's son Gregory receives treatments from his father's plasma, donated about every three weeks and stored at a hospital near the Prices' home in Northern Virginia.
These days, most of the danger of bleeding in the case of hemophilia is internal -- occasionally into the brain, when it can be quickly fatal or, more commonly, into joints, causing agonizing pain and eventual crippling. The Russian monk Grigori Rasputin, who ministered to the hemophiliac son of Czar Nicholas and Empress Alexandra, achieved his legendary power because of his ability to alleviate the child's agonizing pain, possibly through hypnosis.
Today, prompt infusion of a blood product containing the missing factor can save a life, prevent days or weeks of pain and protect joints from the eroding presence of blood.
According to Kessler, the establishment of nearly 200 hemophilia treatment centers 10 years ago has greatly improved the outlook for thousands of hemophiliacs. In figures released last week at the World Federation of Hemophilia conference held here, a study of 31 of the centers showed an increase in home self-treatment, administered in a way similar to insulin, from 500 to 2,500 patients.
In addition, these centers were linked to a decline in school absences from an average of about 14 days to about four, a decrease in hospitalizations by 88 percent and a drop in out-of-pocket expenses from an average of $31,000 annually to just over $8,000, excluding care related to AIDS.
Garrett Bergman, medical director for Armour Pharmaceutical Co., one of five manufacturers of factor products, says that in developing countries and in parts of the U.S. where treatment advances lag and clotting factors are scarce or unaffordable, crippling caused by hemophilia can be early, permanent and severe.
In Puerto Rico, for example, "there are children with such severely deformed joints by the time they are 8 years old that we have to go back to texts from the turn of the century to see that kind of thing," Bergman says. "You don't expect that in 1990."
Bergman cited preliminary results of a six-year international study underway at Mt. Sinai Hospital in New York City. Four-year figures show that "preservation of the patients' joints is very strongly correlated with the aggressiveness of their treatment. Patients, including those in Scandinavia, who received higher doses of clotting factor annually had significantly healthier joints than those who received lower doses. The average cost of a year's treatment ranges from $60,000 to $100,000.
Scandinavian countries pay for the blood products for their hemophiliac citizens and are more likely to treat patients as a preventive measure. In the U.S., the safer, more concentrated products are five times more expensive than the older ones. Insurance companies do not uniformly cover their cost and in some cases, especially in patients with AIDS, Kessler and Bergman say that insurers and physicians are urging use of older products, which are less potent but have been screened for HIV.
"It may cost a lot of money with these newer, high-purity and safer products," Kessler says. "On the other hand, it's a lot cheaper to provide them with these ultimately safe products than it is to have to take care of them when they develop the viral illnesses."
The hope of a cure for hemophilia may lie in the area of gene therapy, which would involve implanting fetal cells either in utero or in a newborn hemophiliac. However, the federal ban on fetal tissue research has seriously hampered such research in the U.S., Kessler contends.
"Society has to decide whether or not it wants to keep a productive element of society working -- and the hemophiliac population is extremely productive," he says, "or whether it wants to cut corners now and pay the price later."