Process
Mutation
A change in a DNA sequence. Mutations arise from copying errors or damage, and their effects range from none at all to disease.
Sickle cell disease
An inherited blood disorder caused by a variant in the HBB gene that changes one amino acid in hemoglobin.Source: MedlinePlusSource: Ingram, 1957Source: Pauling et al., 1949
Health condition
How Sickle cell disease connects
Sickle cell disease can be caused by
Sickle cell disease is related to
Molecule
Hemoglobin
The oxygen-carrying protein of red blood cells. Its beta chain is encoded by the HBB gene.
Process
Human adaptation
Examples include lactase persistence, which evolved separately in Africa and Europe, and the sickle cell trait, which protects against malaria.
Technology or method
Gene therapy
Treating disease by adding, repairing or switching off genes in a patient's cells.
Emerging researchOpen in Biotech Lab
Studied in
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Sources & further reading
The explanations on this page are our own summaries of these sources. Follow a link to read the original; if anything here disagrees with it, the original wins. How we choose and check sources.
Sickle cell disease (opens the original in a new tab)
MedlinePlus Genetics. MedlinePlus Genetics. U.S. National Library of Medicine, NIH.
ReferenceGovernment sourceEducationalGene mutations in human haemoglobin: the chemical difference between normal and sickle cell haemoglobin (opens the original in a new tab)
Ingram VM (1957). Nature 180:326-328.
Traced sickle cell hemoglobin to a single amino acid change.
Historical paperPrimary researchSickle cell anemia, a molecular disease (opens the original in a new tab)
Pauling L, Itano HA, Singer SJ, et al. (1949). Science 110:543-548.
Historical paperPrimary research