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In November 1949, Pauling, Harvey Itano, S. J. Singer and Ibert Wells published "Sickle Cell Anemia, a Molecular Disease" [64] in the journal Science. It was the first proof of a human disease being caused by an abnormal protein, and sickle cell anemia became the first disease understood at the
Thalassemias are inherited blood disorders that result in abnormal hemoglobin. [7] Symptoms depend on the type of thalassemia and can vary from none to severe. [1] Often there is mild to severe anemia (low red blood cells or hemoglobin) as thalassemia can affect the production of red blood cells and also affect how long the red blood cells live. [1]
Sickle cell anemia is a classic example of the mixed benefit given by the staying power of pleiotropic genes, as the mutation to Hb-S provides the fitness benefit of malaria resistance to heterozygotes as sickle cell trait, while homozygotes have significantly lowered life expectancy—what is known as "heterozygote advantage". Since both of ...
The sickle cell trait provides a survival advantage against malaria fatality over people with normal hemoglobin in regions where malaria is endemic. The trait is known to cause significantly fewer deaths due to malaria, especially when Plasmodium falciparum is the causative organism.
In 1954 he discovered, confirming his preconception, that people with sickle-cell trait are resistant to the deadly falciparum malaria. In the 1970s, Allison had worked out the enzyme, inosine monophosphate dehydrogenase , as a key molecule of the immune response in autoimmune diseases and in organ transplantation .