On Call with Dr. Jay Adlersberg

Fighting Cooley's Anemia

Thursday, July 24, 2008

Dr. Jay Adlersberg

NEW YORK (WABC) -- There is new research in the fight against the most common inherited disease. It's known as Cooley's Anemia.

It's common in people from the Mediterranean and in Asians and African-Americans. It can lead to surgery and a shorter lifespan.

Fifty-year-old Gracie Scollo has been short all of her life because of poor bone growth. It is one of the complications of thalassemia, a genetic illness also called Cooley's Anemia, in which there are not enough red blood cells. It left her weak as a child.

"I couldn't keep up with my friends, and even just going to school was not possible," she said.

And even before she was school-age, see needed an operation. In thalassemia, the spleen enlarges so much it can almost fill the abdomen.

Doctors had to remove Gracie's spleen when she was only 14 months old. Though people can live without a spleen...

"They're at risk for bacterial infections, at higher risk, because the spleen helps to fight infections," said Dr. Patricia Giardina, of New York-Presbyterian/Weill Cornell Medical Center. "Actually, unfortunately, 3 percent succumb from overwhelming infection."

Patients without spleens are also at higher risk for strokes.

The solution to the problem of removing the spleen may come from the lab of Dr. Stefano Rivella, who has been experimenting with mice that get an illness like thalassemia.

He's been using an experimental drug that can help prevent spleen enlargement and may actually reduce its size. If it works in humans...

"You prevent potential infections, you prevent potential strokes," Dr. Rivella said. "So it's a beneficial thing."

The drug being tested in the lab in animals is already in human trials for another blood-related disease.

"There is a good potential that the same drug can be eventually be utilized in thalassemia, because it's already being used in other patients for other problems," Dr. Rivella said.

That means it will probably be available for use in thalassemia patients faster than other drugs, which have only been tested in mice. Right now, the main treatments for the illness are blood transfusions and drugs to prevent too much iron from accumulating in a patient's body.

---

STORY BY: Dr. Jay Adlersberg

WEB PRODUCED BY: Bill King

(Copyright 2010 WABC-TV/DT. All Rights Reserved.)