||At the Herrick Symposium, NHLBI acting director Dr. Susan Shurin discusses
sickle cell as the first molecular disease.
One hundred years ago, physician James Herrick
discovered something unusual in a sample of blood taken from one of his patients, Walter Clement Noel. While healthy red blood cells look like donuts without a hole, Noel’s cells were misshapen.
This observation led to Western medical literature’s
first description, published in 1910, of what would come to be known as sickle cell disease. To mark the 100th anniversary of the paper, several hundred scientists, clinicians and members of the public gathered late last fall on the NIH campus for the James B. Herrick
Symposium—Sickle Cell Disease Care and Research: Past, Present and Future. Special guests included James Gilbert, grandson of James Herrick, and Nancy Irons, granddaughter
of Dr. Ernest E. Irons, Herrick’s intern who reported the patient’s blood test.
“As the first molecular disease, sickle cell disease has led the way for scientific study of human genetics and molecular biology, such that it is among the best understood diseases at cellular and genomic levels,” said NHLBI acting director Dr. Susan Shurin. “Looking ahead, our work must focus on continuing to advance knowledge together.
Engagement of patients, communities and providers
with investigators and policy makers is crucial
to continued progress.”
|“The doctors told my parents that I probably wouldn’t live to see my 18th birthday. Sickle cell was like a death sentence, but now it’s totally the opposite...”
Herrick, whose landmark paper appeared in the Archives of Internal Medicine, noted “the shape of the reds was very irregular, but what especially attracted attention was the large number of thin, elongated, sickle-
shaped and crescent-shaped forms.” Those unusual shapes later
gave the condition its name.
Sickle cell disease, also known as sickle cell anemia, is an inherited, life-long condition. People who have the disease inherit a copy of the gene that causes sickle cell from each parent. The gene codes for production of an abnormal hemoglobin that causes red blood cells to sickle. It affects between 70,000 and 100,000 people in the United States, most of whom are of African or Hispanic descent.
Symposium attendees came together to offer personal
and clinical perspectives, address global challenges, review data from ongoing research, discuss therapeutic options and highlight potential
“We must examine not only the biological origin, but also the non-biological influences, including social, cultural, economic, political and environmental
factors,” said Dr. John Ruffin, director of NIMHD. “This is because the transmission, diagnosis
and treatment of the disease, and how it is experienced by patients, are powerfully shaped by the characteristics of the societies where it occurs.”
The voices of individuals living with sickle cell disease resonated throughout the 2 days, alternately
inducing tears and cheers. “The doctors told my parents that I probably wouldn’t live to see my 18th birthday. Sickle cell was like a death sentence, but now it’s totally the opposite. I mean, people can live effective, prosperous lives, healthy lives with sickle cell disease, so I think that we’ve come a long way,” said Tiffany McCoy in a featured video. She attended the conference alongside her family. “I have sickle cell but sickle cell doesn’t have me.”
During the second day of the conference, clinical
practice guidelines to manage sickle cell disease
were previewed. NHLBI is leading the development
of the guidelines and a draft chapter on hydroxyurea therapy was made available online, with participants encouraged to provide feedback.
While bone marrow transplants offer a cure to children and teens who have a suitable donor, currently there is no widely available cure for sickle cell disease. Several presentations provided insights into potential therapies involving hematopoietic
stem cell transplantation, induced pluripotent
stem cells and gene replacement therapy. Such research offers hope to those who have the disease and to those who treat individuals with it.
“I would predict, based on all of the exciting developments here, and many of you in this audience
are conducting those, that we are going to get further in the therapeutic developments and ultimately the ability to manage sickle cell disease satisfactorily in the next 10 years than we have in the last century,” said NIH director Dr. Francis
Collins. “And I hope if we happen to gather at the 110th anniversary of Herrick’s paper that we will have much to celebrate in terms of the way in which the care of individuals with this disease has taken a major leap forward.