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Hope on the Horizon:
A Potential Breakthrough for Sickle Cell Disease

Overview

More than 100,000 people in the United States and nearly two million worldwide suffer from sickle cell disease. Caused by a mutation of the beta-globin gene, sickle cell disease is highly debilitating and can cause fatal strokes and heart attacks. Children afflicted with sickle cell require frequent blood transfusions to prevent stroke and are prone to pain crises and chronic infections which can be life threatening. The average life expectancy of a person with sickle cell disease is about 50 years.

However, after nearly 30 years of research, pediatric and fetal surgeon Alan W. Flake, MD, director of the Center for Fetal Research at The Children’s Hospital of Philadelphia, is on the verge of a potential medical breakthrough: a prenatal cure for sickle cell disease.

After prenatal diagnosis of sickle cell disease, Dr. Flake’s pioneering procedure would transplant the mother’s bone marrow stem cells into her developing fetus while the child is still in the womb, curing this devastating disease before the baby is even born. This research has shown success in animal studies and may progress to testing in clinical trials within the next few years.

Children’s Hospital is an international leader in both fetal therapy and the treatment of sickle cell disease and has pioneered numerous medical breakthroughs that have dramatically improved the lives of children. Many of these breakthroughs have then received federal funding support from the National Institutes of Health to help advance research results into new standards of care.

Sickle cell disease: A serious chronic illness

Sickle cell disease is the most common inherited disorder among African-Americans. One in 12 African-Americans carries a genetic trait for the disease without suffering symptoms, but 1 in 375 babies are born with disease-causing cells. There are currently more than 100,000 individuals with sickle cell disease in the United States alone and millions more worldwide.

Sickle cell disease results from a mutation of the beta-globin gene that turns normally soft, round red blood cells into stiff, sickle-shaped ones. These sickle cells tend to clog small blood vessels, leading to debilitating pain crises and frequent hospitalizations.

Over time, these blockages damage organs and can lead to fatal strokes and heart attacks. The average life expectancy for those with sickle cell disease is approximately 45 years for men and 55 years for women.

Problematic treatment

While bone marrow transplantation can cure sickle cell disease, fewer than 15 percent of sickle cell patients can find a matching donor. It is also highly risky: the mortality rate is 10 percent and the rate of serious complications is more than 50 percent.

As a result, fewer than 300 bone marrow transplants have been performed for sickle cell disease. 

Potential cure on the horizon: In utero stem cell transplantation

The procedure Dr. Flake has designed is a series of two bone marrow stem cell transplants from the mother to her child.

The first transplant would occur while the child is still in the womb, taking advantage of a unique window of time when the immune system is immature. The fetus’ body then recognizes the mother’s bone marrow as its own, enabling a second, non-toxic bone marrow transplant of stem cells after birth to complete the process.

With normal bone marrow, the child’s body would produce normal red blood cells, avoiding all of the painful, life-limiting symptoms of sickle cell disease. Funding support for this innovative biomedical approach can advance it into a fully realized, unprecedented and enduring scientific achievement: curing sickle cell disease at the beginning of a child’s life.

The Sickle Cell Center at Children’s Hospital is dedicated to both the treatment of children with sickle cell disease and advancing research to better manage and ultimately cure the disease. The program is one of the largest in the U.S., providing comprehensive care and services to more than 1,000 patients.

March 2012 

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