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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 ...

  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. Sickle Cell Anemia, a Molecular Disease - Wikipedia

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

    Sickle Cell Anemia, a Molecular Disease. " 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.

  5. Point mutation - Wikipedia

    en.wikipedia.org/wiki/Point_mutation

    Neurofibromatosis is caused by point mutations in the Neurofibromin 1 or Neurofibromin 2 gene. 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.

  6. 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. This vein (4) shows the interaction between the malaria sporozoites (6) with sickle cells (3) and regular cells (1).

  7. Sickle cell-beta thalassemia - Wikipedia

    en.wikipedia.org/wiki/Sickle_cell-beta_thalassemia

    Sickle cell-beta thalassemia is caused by inheritance of a sickle cell allele from one parent and a beta thalassemia allele from the other. Mutations. A sickle allele is always the same mutation of the beta-globin gene (glutamic acid to valine at amino acid six). In contrast, beta-thalassemia alleles can be created by many different mutations ...

  8. 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. This deformation of the cells can cause them to become lodged in capillaries ...

  9. Autosplenectomy - Wikipedia

    en.wikipedia.org/wiki/Autosplenectomy

    Autosplenectomy can occur in cases of sickle-cell disease where the misshapen cells block blood flow to the spleen, causing scarring and eventual atrophy of the organ. Autosplenectomy is a rare condition that is linked to certain diseases but is not a common occurrence. It is also seen in systemic lupus erythematosus (SLE).

  10. Sickle cell nephropathy - Wikipedia

    en.wikipedia.org/wiki/Sickle_cell_nephropathy

    Sickle cell nephropathy is a type of nephropathy associated with sickle cell disease which causes kidney complications as a result of sickling of red blood cells in the small blood vessels. The hypertonic and relatively hypoxic environment of the renal medulla, coupled with the slow blood flow in the vasa recta, favors sickling of red blood ...

  11. Sickle-cell anemia - Wikipedia

    en.wikipedia.org/?title=Sickle-cell_anemia&...

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