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  2. Sickle cell disease - Wikipedia

    en.wikipedia.org/wiki/Sickle_cell_disease

    Sickle cell disease (SCD), also simply called sickle cell, is a group of hemoglobin-related blood disorders that are typically inherited. [2] The most common type is known as sickle cell anemia. [2] Sickle cell anemia results in an abnormality in the oxygen-carrying protein haemoglobin found in red blood cells. [2]

  3. Heterozygote advantage - Wikipedia

    en.wikipedia.org/wiki/Heterozygote_advantage

    Sickle-cell anemia (SCA) is a genetic disorder caused by the presence of two incompletely recessive alleles. When a sufferer's red blood cells are exposed to low-oxygen conditions, the cells lose their healthy round shape and become sickle-shaped. This deformation of the cells can cause them to become lodged in capillaries, depriving other ...

  4. Point mutation - Wikipedia

    en.wikipedia.org/wiki/Point_mutation

    A single point mutation in this polypeptide chain, which is 147 amino acids long, results in the disease known as Sickle Cell Anemia. [18] Sickle-cell anemia is an autosomal recessive disorder that affects 1 in 500 African Americans, and is one of the most common blood disorders in the United States. [17]

  5. Sickle cell trait - Wikipedia

    en.wikipedia.org/wiki/Sickle_cell_trait

    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.

  6. Hemoglobin variants - Wikipedia

    en.wikipedia.org/wiki/Hemoglobin_variants

    Mutations can caused impaired production of hemoglobin (thalassemia) or produce structurally altered hemoglobins. Some hemoglobin variants, such as HbS which causes sickle-cell anemia , are responsible for severe diseases and are considered hemoglobinopathies .

  7. Why gene therapy for sickle cell is slow to catch on with ...

    www.aol.com/news/why-gene-therapy-sickle-cell...

    The mutation that causes sickle cell is most prevalent in places where malaria is endemic: A single copy of the gene has been shown to protect against malaria infection.

  8. Human genetic resistance to malaria - Wikipedia

    en.wikipedia.org/wiki/Human_genetic_resistance...

    Sickle-cell disease was the genetic disorder to be linked to a mutation of a specific protein. Pauling introduced his fundamentally important concept of sickle cell anemia as a genetically transmitted molecular disease. [20] This vein (4) shows the interaction between the malaria sporozoites (6) with sickle cells (3) and regular cells (1).

  9. Balancing selection - Wikipedia

    en.wikipedia.org/wiki/Balancing_selection

    A well-studied case is that of sickle cell anemia in humans, a hereditary disease that damages red blood cells. Sickle cell anemia is caused by the inheritance of an allele (HgbS) of the hemoglobin gene from both parents. In such individuals, the hemoglobin in red blood cells is extremely sensitive to oxygen deprivation, which results in ...

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