Hemophilia

Geneticists on Sunday reported that they have solved a key mystery about hemophilia and developed a new test for telling women whether they risk bearing sons with the disease. The test should give a definitive answer in about 45% of families affected by severe cases of hemophilia A, the most common form of the blood disorder, researchers said. Hemophilia A appears in about one in every 5,000 males, and about half the cases are considered severe.

Genes make us who we are - in sickness and in health. We get our genetic makeup from our parents, of course, but in the future, we might be getting genes from our doctors too. Imagine your doctor promising to cure your cancer or heart disease by prescribing some new snippets of DNA. For some diseases, gene therapy is already a reality. In other cases, genetic cures are still years away. Despite many challenges and setbacks - including some that are surely yet to come - experts predict that gene therapy will eventually become a crucial and even common part of healthcare.

A new genetically engineered drug for the bleeding disorder hemophilia A was approved for marketing by the U.S. Food and Drug Administration Thursday. The drug, called factor VIII with the trade name Recombinate, is manufactured by Baxter Healthcare Corp. of Glendale. Earlier this year, FDA also approved a genetically engineered form of factor IX, which is used to treat hemophilia B. In the past, the condition was treated with a clotting factor extracted from human blood.

As pioneering hematologist Dr. Edward Shanbrom looked for simple solutions to complex problems, his home was often his laboratory and common household items his scientific ally. When he needed a filter to test a concept, one made for coffee would do just fine. If he was investigating ideas related to plasma and none was available, he would use milk because it shares many properties with plasma. "I don't do sophisticated science," Shanbrom once said. "My work is quick and feasible" yet could "be very important.

Implants of genetically engineered skin cells in dogs with hemophilia B, a rare bleeding disorder in which the blood does not clot properly, can bring the symptoms under control for short periods, according to researchers from the Salk Institute in La Jolla.

Peggy Kendall held a crumpled paper napkin in her left hand. She eyed a small wastebasket four inches from her bedside. She concentrated. She made a faint tossing gesture, and the napkin rolled off the tips of her dry, delicate fingers and fell to the ground. Frustration flickered across her face, but only briefly. Peggy Kendall had other things to worry about. Just a handful of years ago, Kendall wouldn't have thought twice about disposing of wastepaper.

Josiah Andrew Alvarado is buried on a grassy slope in the Hollywood Hills, in the shadow of a stand of giant pine trees and pink-blooming oleanders. His is a simple grave, marked by a brass tablet bearing a quote from Psalms and figures befitting a child just shy of his eighth birthday: a goose and rabbit, a cherub, teddy bear and lamb. His mother doesn't come to the cemetery much. Visiting is too painful. It has been five years since her only child, a hemophiliac, died of AIDS.

The Painted Turtle camp in Lake Hughes affords two preteens with hemophilia the chance to have fun. Kirin and Bailey Heftye are both handsome, healthy-looking preteen boys. Under a shaded area at an El Monte Starbucks, they frequently interrupt each other to discuss their favorite activities at summer camp. But they are not your typical 12-year-old kids, nor is the camp they attend each year your average summer camp. Kirin and Bailey are twins, and the camp they look forward to attending in early August is the Painted Turtle at Lake Hughes . It's a camp for children affected by serious health conditions including hemophilia, a lifelong, inherited bleeding disorder caused by low or nonexistent levels of blood-clotting protein.

Doctors report that a new drug designed to help make blood clot in people with hemophilia is safe and effective. The drug is supposed to be an exact copy of the natural clotting substance known as factor VIII. It was developed through genetic engineering techniques by Cutter Biological in Berkeley.

The Painted Turtle camp in Lake Hughes affords two preteens with hemophilia the chance to have fun. Kirin and Bailey Heftye are both handsome, healthy-looking preteen boys. Under a shaded area at an El Monte Starbucks, they frequently interrupt each other to discuss their favorite activities at summer camp. But they are not your typical 12-year-old kids, nor is the camp they attend each year your average summer camp. Kirin and Bailey are twins, and the camp they look forward to attending in early August is the Painted Turtle at Lake Hughes . It's a camp for children affected by serious health conditions including hemophilia, a lifelong, inherited bleeding disorder caused by low or nonexistent levels of blood-clotting protein.

Federal health officials announced Friday that they would reexamine a 27-year-old set of restrictions on blood donations by gay men. The restrictions, enacted in the early years of the AIDS epidemic in the United States, impose a lifetime ban on men donating blood if they've had sex with another man at any time since 1977. In recent years, the American Red Cross, the American Assn. of Blood Banks and America's Blood Centers, which collectively represent almost all blood banks in the country, have recommended loosening the restrictions to allow men who have abstained from gay sex for one year to donate blood.

A single dose of a drug already used to treat hemophilia can help limit brain damage caused by the deadliest and most debilitating form of stroke, researchers have found. Chief author Stephan Mayer said he was "stunned" by the finding involving the drug recombinant activated factor VII, which is sold for hemophilia treatment under the brand name NovoSeven by Denmark's Novo Nordisk.

In a closely watched court decision, a doctor accused of negligence in the death of a hemophiliac infected with HIV was found not guilty after a four-year trial. Takeshi Abe, 84, a hemophilia expert and vice president of Teikyo University, headed a government panel on AIDS in 1983 and 1984 and opposed swift approval of heat-treated blood products already in use in other countries. In 1996, the mother of a hemophiliac who died in 1991 brought a criminal suit against Abe.

Robert Ray, one of three AIDS-exposed hemophiliac brothers who won a court battle 13 years ago to return to public school only to be burned out of their home by an arsonist, died Friday. He was 22. Ray, infected through contaminated blood products used to treat his hemophilia, died at All Children's Hospital of complications from both diseases, the St. Petersburg hospital said in a statement.

Hemophilia is a hereditary bleeding disorder that plagued the descendants of Britain's Queen Victoria. One major form of the disease is caused by a defect in a gene that normally produces a factor vital to forming blood clots. In the most severe cases, any small cut or bruise can cause excessive bleeding. The condition is treated now by using injections to supply the missing blood factor, but the repeated bleeding takes its toll on patients, especially when it flows into joints.

An Orange County man admits he is a guinea pig and doesn't know the risks but the hemophiliac said Saturday he hopes to help find a cure for the disease that afflicts 20,000 Americans. "I'm nervous as hell," said 30-year-old computer software designer Chris Pitkin from Yorba Linda, who is taking a genetically engineered blood-clotting agent designed to reduce the risk of contracting AIDS. "You don't really know what you're getting into," Pitkin said.

Armour Pharmaceutical is recalling 208 lots of a blood clotting agent distributed for hemophilia patients because of the possibility it could contain the AIDS virus, the Food and Drug Administration said. The FDA announcement said the Bluebell, Pa., firm estimates that 2,000 to 5,000 doses of the clotting agent called H. T. Factorate are on the market in the United States.

Scientists have altered a gene in rats' livers by injecting a "repairman" molecule into the animals' bloodstreams. The technique might lead to an eventual cure for hemophilia and some other inherited diseases in people. The startling thing was how well it worked, scientists said. The treatment produced a specific change in about 40% of the rat liver's supply of the targeted gene.

For so long, Loras Goedken had buoyed his family with his determination in the face of AIDS. But now, as his loved ones massaged his legs and held his hands, he breathed fitfully. His mother, Mary, kissed him and told him again and again that she loved him. His son-in-law, Jeff Pike, reassured him. "We're all here with you," Pike said. "It's OK. It's OK to go." He died at age 52 on Aug. 24, and a singular family nightmare ended.