Scientists correct sickle cell disease in mice

U.S. scientists have found a way to get mice with a form of sickle cell disease to make normal red blood cells, offering a potential new way to treat the blood disorder in people, they reported on Thursday.
Adults with sickle cell disease make mutant, sickle-shaped forms of hemoglobin, the protein in red blood cells that is vital for carrying oxygen to the body's tissues.
These deformed cells block small blood vessels, causing pain, strokes, organ dysfunction and premature death.
But this problem occurs only after birth.
During development, a fetus uses one gene to make a fetal form of hemoglobin, but switches to another after birth, and problems with this adult gene are what lead to sickle cell disease.
A team led by Dr. Stuart Orkin of Harvard Medical School, Children's Hospital and the Howard Hughes Medical Institute in Boston, earlier had discovered that a protein called BCL11A is responsible for making the switch from fetal hemoglobin to adult hemoglobin.
In the latest study, published in the journal Science, the team looked to see what would happen if they blocked production of the BCL11A protein in mice with sickle cell disease.
They found that when the protein was disabled, the mice switched back to producing fetal hemoglobin. And mice that once exhibited symptoms of sickle cell disease improved.
"This discovery provides an important new target for future therapies in people with sickle cell disease," Dr. Susan Shurin, acting director of the NIH's National Heart, Lung, and Blood Institute, which co-funded the study, said in a statement.
"More work is needed before it will be possible to test such therapies in people, but this study demonstrates that the approach works in principle."
Sickle cell disease affects 100,000 Americans and 3 million to 5 million people globally. It is most prevalent in people of African, Hispanic, Mediterranean and Middle Eastern descent.
There is no widely available cure. Bone marrow transplants work for some patients, but the treatment is risky and only available to patients with relatives who can donate compatible and healthy bone marrow to them.

FDA Approves New Treatment Option for Patients with Thalassemia

Gina Cioffi
Cooley's Anemia Foundation

The Cooley's Anemia Foundation Applauds FDA Approval of Ferriprox, Iron Chelator for People with Thalassemia. The Foundation Believes a Wider "Menu" of Treatment Options is Crucial for Each Individual Patient to Receive Optimal Treatment

New York, NY (PRWEB) October 14, 2011

The Cooley’s Anemia Foundation (CAF), the only national non-profit dedicated solely to fighting the genetic blood disorder thalassemia, applauds a Food and Drug Administration (FDA) decision today to approve the new drug application for the oral chelator, Ferriprox. This action follows a 10-2 vote on September 14, 2011 by the Oncology Drugs Advisory Committee to recommend the approval of this drug.

“As the premier voice of the thalassemia community in the United States, we are thrilled that our patients will have the benefit of this drug which has proven beneficial to patients throughout the world,” says CAF National President Anthony J. Viola. “The FDA clearly responded to the overwhelming need for this drug in our patient population and has provided those patients needing daily drug therapy to remove iron, an option that has improved cardiac health and prolonged life in thousands of patents over the past decade.”

Ferriprox is an iron chelator, which is a drug that is used to help rid the body of excess iron, a serious and often fatal complication in thalassemia. Because individuals with the severe form of thalassemia are born with a life threatening anemia, they require lifelong blood transfusions as often as every two weeks. These transfusions overload the body with iron; if it is not removed, it settles in the organs, causing heart and liver failure, as well as numerous other complications.    

For many years, the only FDA-approved chelator was Desferal, which must be administered by pumping the drug into the body for 8-12 hours, 5-7 nights per week. In 2005, the FDA approved Exjade, a chelator that is administered orally.

Ferriprox is also an oral chelator. In addition to being easier to administer than Desferal, Studies published in Europe demonstrate that use of Ferriprox has been shown to protect the heart from iron accumulation, a crucial concern for individuals with thalassemia.

“The major cause of death in our patient population is iron-related heart failure,” says Viola. “And with a very significant percentage of our population unable to use either Desferal or Exjade, there is a vital need for another option; that option is Ferriprox.”

“We have seen too many patients die too young,” Viola concludes. “Our patients’ lives depend upon having more treatment options available to them. The FDA addressed the unmet medical needs of these desperately ill patients and provided approval for a drug that will help them. Their decision has the opportunity to extend our patient’s lives and significantly improve their quality of life.”

Founded in 1954, the Cooley’s Anemia Foundation (http://www.cooleysanemia.org; (212-279-8090) is the only national non-profit organization dedicated solely to thalassemia. The Foundation’s mission is advancing the treatment and cure for this fatal blood disease, enhancing the quality of life of patients and educating the medical profession, trait carriers and the public about Cooley's anemia/thalassemia major.