His article was in an African medical journal. The other was by Dr. James V. It was in his department that I worked for seven years and was on the staff of one of the first Centers for Sickle Cell Disease in 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 article and the dual publication by Beet. He smiled, got up from his desk and opened a file drawer. Two years later, in , the famous Nobel Prize-winning chemist, Dr. Linus Pauling and his colleague Dr. This led Dr. Today, thousands of such diseases are known but in , SCD was the first.
The details of the abnormality were worked out by Dr. Vernon Ingram in Daland, G. Castle, A simple and rapid method for demonstrating sickling of the red blood cells; the use of reducing agents. J Lab Clin Med, Pauling, L. Itano, and et al. Science, Beet, E. Allison, A. Br Med J, Exp Parasitol, Motulsky, A. Am J Trop Med Hyg, Rucknagel, D. Kalinyak, and M.
Gelfand, Rib infarcts and acute chest syndrome in sickle cell diseases. Lancet, Piel, F. Nat Commun, Luzzatto, L. Nwachuku-Jarrett, and S. Reddy, Increased sickling of parasitised erythrocytes as mechanism of resistance against malaria in the sickle-cell trait. Miller, M. Neel, and F. Livingstone, Distribution of parasites in the red cells of sickle-cell trait carriers infected with Plasmodium falciparum.
Friedman, M. Kaul, D. Chen, and J. Zhan, Adhesion of sickle cells to vascular endothelium is critically dependent on changes in density and shape of the cells. Hunt, J. Ingram, Abnormal human haemoglobins. The chymotryptic digestion of the trypsin-resistant core of haemoglobins A and S. Biochim Biophys Acta, Sanger, F. J Mol Biol, Wollstein, M.
American Journal of Diseases of Childhood, John, A. Lee, A. BMJ, Johnson, F. N Engl J Med, Sullivan, K. Bone Marrow Transplantation, Hill-Kayser, C. Bone Marrow Transplant, Carr, B. Br J Cancer, A smear of this patient's blood showed that "the shape of the red cells was very irregular, but what especially attracted attention was the large number of thin, elongated, sickle-shaped and crescent-shaped forms" 1.
Complicating a diagnosis were additional problems: cardiac enlargement, jaundice, possible kidney damage, and swelling of the lymph nodes. Nevertheless, Herrick suggested that some "change in the composition of the [red blood] corpuscle itself may be the determining factor" in the manifestation of these conditions.
During the 's, evidence for the hereditary nature of sickle cell anemia developed and in , this disease caught the attention of Linus Pauling. Since red blood cells contain large amounts of hemoglobin, Pauling thought it would be worthwhile to examine the properties of hemoglobin obtained from sickle cells. He and his colleagues were not disappointed: they found that both the oxygenated and deoxygenated forms of sickle cell hemoglobin had higher isoelectric points 7. Pauling and colleagues published their results in a paper entitled "Sickle cell anemia: a molecular disease", as it was the first demonstration of "a change produced in a protein molecule by an allelic change in a single gene" 2.
In , Vernon Ingram reported the exact difference between sickle cell and wild type hemoglobin. The atomic structure of hemoglobin, determined by Max Perutz and colleagues 4 , showed that this residue position is located on the surface of the protein. The mutation makes sickle cell hemoglobin less soluble and more prone to form the distinct fibrous precipitates that cause the erythrocytes to adopt the deformed 'sickle' shape. The sickle cells can become trapped in small blood vessels, resulting in organ damage, and they rupture more easily, leading to anemia.
Today, despite the detailed molecular explanation of the cause, sickle cell anemia is still a serious clinical problem. Herrick, J. Peculiar elongated and sickle-shaped red blood corpuscles in a case of severe anemia. Article Google Scholar. Pauling, L. Sickle cell anemia: a molecular disease. Science , —
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