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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. Pleiotropy - Wikipedia

    en.wikipedia.org/wiki/Pleiotropy

    Photomicrograph of normal-shaped and sickle-shape red blood cells from a patient with sickle cell disease. Sickle cell anemia is a genetic disease that causes deformed red blood cells with a rigid, crescent shape instead of the normal flexible, round shape. It is caused by a change in one nucleotide, a point mutation in the HBB gene.

  5. 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]

  6. Antagonistic pleiotropy hypothesis - Wikipedia

    en.wikipedia.org/wiki/Antagonistic_pleiotropy...

    Antagonistic pleiotropy also provides a framework for understanding why many genetic disorders, even those causing life threatening health impacts (e.g. sickle cell anaemia), are found to be relatively prevalent in populations when, seen through the lens of simple evolutionary processes, they should be observed at very low frequencies due to ...

  7. Missense mutation - Wikipedia

    en.wikipedia.org/wiki/Missense_mutation

    Missense mutation refers to a change in one amino acid in a protein, arising from a point mutation in a single nucleotide. Missense mutation is a type of nonsynonymous substitution in a DNA sequence. Two other types of nonsynonymous substitution are the nonsense mutations, in which a codon is changed to a premature stop codon that results in ...

  8. Hemoglobin A - Wikipedia

    en.wikipedia.org/wiki/Hemoglobin_A

    Sickle cell disease. Sickle hemoglobin (HbS) is the most common variant of hemoglobin and arises due to an amino acid substitution in the beta-globin subunit at the sixth residue from glutamic acid to valine. There are different forms of sickle cell disease. HB SS which is the most common and severe form of sickle cell.

  9. Heterozygote advantage - Wikipedia

    en.wikipedia.org/wiki/Heterozygote_advantage

    Heterozygote advantage is a major underlying mechanism for heterosis, or "hybrid vigor", which is the improved or increased function of any biological quality in a hybrid offspring. Previous research, comparing measures of dominance, overdominance and epistasis (mostly in plants), found that the majority of cases of heterozygote advantage were ...

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