NHGRI logo

1956: Cause of Disease Traced to Alteration

Illustration of hemoglobin proteins

Sickle cell anemia was first described in 1910, after Ernest E. Irons, an intern at Chicago's Presbyterian Hospital, noticed elongated cells in a blood smear from Walter C. Noel, a dental student with severe anemia.

In the late 1940s, Pauling and his colleagues realized that sickle cell anemia stems from a change in the structure of hemoglobin. In 1956, Ingram discovered that a specific chemical alteration in a hemoglobin protein - the substitution of valine for glutamic acid in the sixth amino acid in beta globin - is the root of the disease. Other mutations in hemoglobin can also cause sickle cell anemia, and were sorted out later.


More Information


Herrick J.B. Peculiar elongated and sickle-shaped red blood corpuscles in a case of severe anemia. Arch Intern Med, 6: 517-521. 1910.

Pauling L., Itano H.A., Singer S.J., Wells I.G. Sickle-cell anemia, a molecular disease. Science, 110: 543-548. 1949. [PubMed]

Ingram V.M. Specific chemical difference between the globins of normal human and sickle-cell anemia haemoglobin. Nature, 178: 792-794. 1956. [PubMed]


« Previous Event | Next Event »



Last updated: April 23, 2013