Although sickle cell disease has been present in Africa for over five thousand year, the first documented case of sickle cell disease in the United States occurred in 1910. Walter Clement Noel, a dental student from the island of Grenada studying in Chicago, went to Dr. James B. Herrick with symptoms of anemia and episodes of pain. Herrick, a cardiologist, did not show much interest in the case and assigned a resident, Dr. Ernest Irons, to look farther into Noel’s condition. When microscopically examining Noel’s blood, Irons discovered red cells he described as "having the shape of a sickle". This regained the attention of Herrick who became interested in the discover of a potential new, unknown disease. He consequently published a paper in a medical journal and used the term "sickle shaped cells".
As more cases began to surface it was clear that, for whatever reason, it occurred only or primarily in persons of African origin. In 1927, Hahn and Gillespie discovered that red blood cells from people with the disease could be made to sickle by removing oxygen. The trouble was that there were people whose red cells had this trait of sickling when deprived of oxygen but who did not have the disease. This condition became known as "sickle trait".
In 1949, two articles appeared independently showing conclusively that sickle cell disease was inherited and that people with sickle trait were heterozygous for the gene whereas people with the disease were homozygous. One was published by a military doctor in what was then known as Portuguese East Africa, now Mozambique, named Col. 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. Neel published his article in the prestigious American Journal of 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.
Two years later, in 1951, the famous Nobel Prize-winning chemist, Dr. Linus Pauling and his colleague Dr. Harvey Itano, discovered that the red, oxygen-carrying protein, hemoglobin, had a different chemical structure in people with sickle cell disease. The details of the abnormality were worked out by Dr. Vernon Ingram in 1956. In the 1970’s, more details of how this abnormal structure affects the red blood cells were revealed and better tests for the detection of the disease were developed. In the years following, better ways of treating sickle cell patients and potential treatments appeared. The life span and the quality of life of patients were improved. Genetic counseling became an important tool for informing people about the risks of having a child with sickle cell disease. The goal of a total cure has not been reached but great progress has been made.
This is really interesting. Do they know why it is found primarily in people of African origin and with its spread in the United States with African Americans as well as Caucasian people is this due to races starting to mix or can it happen in Caucasians without inheriting it down the line from someone with African origin. And with the oxygen deprivation causing sickle traits is there any need of some form of oxygen blood therapy to prevent/help this condition?
ReplyDeleteWhitney, oxygen therapy is used to help this condition during sickle cell crisis. Sickle cell crisis is when the sickled red cells are blocking the blood vessels and possibly damaging the organs as well. It is a painful experience for the patient, as oxygen is not getting to the tissues, and some blood vessels may even experience necrosis depending on the length of the crisis. Oxygen therapy is used in the crisis to help return the sickle cells to the normal shape of the red blood cells so that they can deform and move through the blood vessels and stop causing blockages.
ReplyDeleteThis disease is definitely one that can be very detrimental and cause much pain to the patient. I have a close friend who suffers from sickle cell anemia and the random flare ups that he has always upsets me. There have been studies, however, of gene therapy possibly being a way of help this disease. The study was done in mice with sickle cell and when a harmless virus carrying a gene for gamma-globin was injected into forming red blood cells, the anemia was essentially corrected. They said the treated sickle cell mice had no differences from the normal mice. This treatment has not been advanced to the use in humans just yet due to some technical issues, but once figured out, researchers say that this could definitely be an effective treatment.
ReplyDeleteGreat post Eden!! sickle cell dieases is defiently very interesting to the scientific world. I was very intriged to hear of the history to how the discovery was made. One day i do hope that there will be a cure.
ReplyDeleteThis topic is sort of close to home because one of my best friends has sickle cell trait, I recently found out that she was a carrier for sickle cell disease. About 10% of the population has the trait, so hopefully when she settles down, that will not deter her fromwanting children in the future. Celebrities such as T-boz from TLC and Larenz Tate (actor), have this disease.
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