Historical Significance of 100th Anniversary

Graciously submitted by:
William P. Winter, Ph.D.
Deputy Director, Howard University Center for Sickle Cell Disease
June 2010

Sickle cell disease has, of course, been known in Africa under many names in many tribal languages for at least five thousand years.  What we call its “discovery” was made in 1910.  Walter Clement Noel from Grenada, then a dental student in Chicago, went to Dr. James B. Herrick with complaints of pain episodes, and symptoms of anemia.  Herrick was a cardiologist and not too interested in Noel’s case so he assigned a resident, Dr. Ernest Irons to the case.  Irons examined Noel’s blood under the microscope and saw red blood cells he described as “having the shape of a sickle”.  When Herrick sees this in the chart, he became interested because he saw that this might be a new disease.  He subsequently published a paper in one of the medical journals in which he used the term “sickle cells”.  Interestingly, Dr. Irons name was never mentioned.

In 1949, two articles appeared independently showing conclusively that SCD was inherited and that people with sickle trait were heterozygous (carriers or AS) for the gene whereas people with the disease were homozygous – i.e., had a double dose of the gene (SS).  One was published by a military doctor in what was then known as Portuguese East Africa (now Mozambique) named E. A. Beet.  His article was in an African medical journal.  The other was by Dr. James V. Neel, Chairman and founder of the Department of Human Genetics at the University of Michigan.  It was in his department that I worked for seven years.  Neel published his article in the prestigious American journal Science.  As a result of the much wider readership of that journal, Neel usually gets the credit for the discovery although most authors are careful to cite both and many people think that Neel and Beet worked together.  As an aside, some years ago, I visited Dr. Neel (he has died since), and I remarked that I always tell my classes about his discovery and the 1949 article and the dual publication by Beet.  He smiled, got up from his desk and opened a file drawer.  He pulled out a reprint of a 1947 paper he had written, also from Science as I recall, and showed me where he had said, “this [referring to data in the paper] almost certainly shows that sickle cell anemia is hereditary. I prefer to cite this paper these days,” he said with a puckish grin on his face.

In summary, in 1910, Herrick described an anemia characterized by bizarre, sickle-shaped cells.  The role of deoxygenation was not discovered until the 1920’s by Hahn and Gillespie.  The hereditary nature of the disease was suspected but not demonstrated until 1949 by Dr. James V. Neel.  The association with hemoglobin was discovered by Linus Pauling and Harvey Itano in 1950 and the actual amino acid substitution by Vernon Ingram in about 1956. The 100th anniversary marks the discovery of sickle cell disease by western medicine and naming of the disease.