A Brief History of the Discovery Sickle Cell Anemia

Sickle cell anemia was the first diagnosed disease that was linked to the hemoglobin protein and genetically characterized. In 1910 Sickle cell disease was first characterized when Dr. B. Herrick wrote a report about a patient who suffered from a "strange disease" including such symptoms as asthmatic conditions and blood flow problems including body ulcers (Linde, 1972). The study led to the locating of a new sickle cell hemoglobin (HbS) that was predicted in the 1940’s by Linus Pauling (Johnson, 1984). Three researchers discovered that HbS had a lower solubility than normal hemoglobin: Pertuz and Mitchson examined HbS solubility and Harris "observed spindle shaped liquid crystals" that formed in the de-oxygenated hemoglobin (Johnson, 1984). Linus Pauling again hypothesized on the nature of HbS and its role in sickle cell anemia in 1952 by saying that the HbS proteins may act differently from regular hemoglobin (HbA) Rods or Helix Structure in Electron microscope and models, Edelstein, 1986: p 118and stack together. Pauling’s new hypothesis together with the old stated that the sickling of the cells in sickle cell anemia may be due to the formation of "rods" by the hemoglobin and thus "sickle" the cell (Johnson, 1984 ).
From these hypothesizes and experiments a physical understanding of sickle cell disease was formed although no effective cures had been found. The physical mapping of the hemoglobin protein for every amino acid allowed it to be one of the first  human genetic diseases to be characterized genetically. The difference between HbA hemoglobin and HbS hemoglobin is a one base pair difference, a transversion of A to T in the beta -globin gene. This transversion at the sixth codon leads to a change in a hydrophobic amino acid to a hydrophilic amino acid with very different physical properties and an overall change in the Picture of Sickle Cell Anemic Red Blood Cell with rod like formations, Edelstein, 1986: p 117hemoglobin structure and red blood cell function.
Even with these physical and genetic clues that have been around for decades cures and treatments of sickle cell anemia are barely touched on. New methods are being developed now using the genetical advances of today to change the research field of sickle cell anemia, but why has the development of these treatments taken so long?


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