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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 typically inherited. [2] The most common type is known as sickle cell anemia. [2] It results in an abnormality in the oxygen-carrying protein haemoglobin found in red blood cells. [2] This leads to a rigid, sickle -like shape under certain circumstances. [2] Problems in sickle cell ...

  3. Sickle cell trait - Wikipedia

    en.wikipedia.org/wiki/Sickle_cell_trait

    Sickle cell trait describes a condition in which a person has one abnormal allele of the hemoglobin beta gene (is heterozygous), but does not display the severe symptoms of sickle cell disease that occur in a person who has two copies of that allele (is homozygous). Those who are heterozygous for the sickle cell allele produce both normal and ...

  4. Heterozygote advantage - Wikipedia

    en.wikipedia.org/wiki/Heterozygote_advantage

    Sickle-cell anemia 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.

  5. Sickle Cell Anemia, a Molecular Disease - Wikipedia

    en.wikipedia.org/wiki/Sickle_Cell_Anemia,_a...

    "Sickle Cell Anemia, a Molecular Disease" is a 1949 scientific paper by Linus Pauling, Harvey A. Itano, Seymour J. Singer and Ibert C. Wells that established sickle-cell anemia as a genetic disease in which affected individuals have a different form of the metalloprotein hemoglobin in their blood.

  6. 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.

  7. Hemoglobin Lepore syndrome - Wikipedia

    en.wikipedia.org/wiki/Hemoglobin_Lepore_syndrome

    Sickle cell-Hb Lepore Boston syndrome is a type of sickle cell disease (HbS) that differs from homozygous sickle cell disease where both parents carry sickle hemoglobin.

  8. Mendelian traits in humans - Wikipedia

    en.wikipedia.org/wiki/Mendelian_traits_in_humans

    Mendelian traits in humans. A 50/50 chance of inheritance. Sickle-cell disease is inherited in the autosomal recessive pattern. When both parents have sickle-cell trait (carrier), a child has a 25% chance of sickle-cell disease (red icon), 25% do not carry any sickle-cell alleles (blue icon), and 50% have the heterozygous (carrier) condition. [1]

  9. Point mutation - Wikipedia

    en.wikipedia.org/wiki/Point_mutation

    Sickle-cell anemia Sickle-cell anemia is caused by a point mutation in the β-globin chain of hemoglobin, causing the hydrophilic amino acid glutamic acid to be replaced with the hydrophobic amino acid valine at the sixth position. The β-globin gene is found on the short arm of chromosome 11.