Old at Age 30

Though Mary Lou Manachi, 17, of West Paterson, N.J., and Linda Chiarello, 16, of New Providence, N.J., have different interests and career ambitions, the two earnest high school students also have something in common: a life-threatening genetic defect. Both suffer from Cooley's anemia (thalassemia major), a hereditary blood disease resulting in deficient synthesis of hemoglobin, the oxygen-carrying component of blood. Their condition causes cardiac and other complications that kill most of its victims in their teen-age years. The pale, often undersized youngsters may have bone deformities and enlarged spleens and livers; they tire easily and frequently miss school.

There are at least 5,000 children with Cooley's anemia in the U.S. alone, most of them of Mediterranean descent; unlike most genetic flaws, this one has a known geographic origin. Mary Lou and Linda are more fortunate than most victims of their disease. They receive regular transfusions of red blood cells from the Children's Blood Foundation, an unusual organization affiliated with Manhattan's New York Hospital-Cornell Medical Center that offers hope to victims of this and other debilitating diseases.

Risky Treatment. Founded in 1952 and supported primarily by private funds, C.B.F. treats and studies the complete spectrum of children's blood disorders. The foundation treats those with sickle-cell anemia, a hereditary blood disease largely limited to blacks; supervises a home-care program for hemophiliacs; and conducts drug-treatment programs for children with leukemia. It also maintains an outpatient clinic for Cooley's anemia that currently provides ongoing therapy to approximately 55 victims of this ethnic ailment.

The treatment, which consists of regular transfusions of red blood cells, can be risky. Frequent transfusions can cause immune reactions and lead to an iron overload damaging to the liver.

"It's a Scylla and Charybdis situation," says Dr. Dennis Miller, director of pediatric hematology for the C.B.F. "The transfusions enable a patient to survive, but they endanger him as well."

The treatment--given as often as every other week--can also be frightening to the children. Very young patients are usually sedated before their transfusions. Older children who are more accustomed to the transfusions relax in overstuffed chairs in a clublike room while receiving blood. Careful monitoring is carried on to guard against the infections to which thalassemia victims are prone. Many youngsters also have their spleen removed when that organ becomes uncomfortably enlarged. Although the reasons are not fully understood, infections may multiply when the spleen is taken out.

Grim Talk. Counseling is another important part of the care provided by the C.B.F. Dr. Virginia Canale, director of the transfusion clinic, tries to acquaint her patients with the nature of their disease, explaining it in terms that they can understand. A social worker and nurse meet regularly with the children's parents to help them adjust to the physical and psychological difficulties caused by the disease.

The adjustment is never easy. But Mary Lou's mother, Mrs. Mary Manachi, talks openly with her daughter about the disease and its usual outcome. "I've had three children with Cooley's anemia," she explains. "The second child died of it, so of course we talk about death." Other parents, learning through the foundation's genetic-counseling services that they carry the disease, have decided to have no more children or to adopt. Most couples merely answer their children's questions as they come up and try not to think of the future.

Not so the children. Generally they seem to adjust to their condition better than their elders, agreeing with Mary Lou that "if you gotta come here, you gotta come." Some have asked Dr. Canale questions about dating, marriage and the risk of passing their affliction on to their offspring. Their concern about the future is more than wishful thinking. Though thalassemia major is still incurable, the regular treatment available through the C.B.F. has increased the life expectancies of those who suffer from it. Several of the C.B.F.'s patients are in their late teens; one has reached 30.

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