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.