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  2. 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. [29] It is caused by a change in one nucleotide, a point mutation [30] in the HBB gene.

  3. 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]

  4. Hemoglobin C - Wikipedia

    en.wikipedia.org/wiki/Hemoglobin_C

    Blood film of hemoglobin SC disease, showing many target cells and few sickle cells HbC can combine with other abnormal hemoglobins and cause serious hemoglobinopathies. Individuals with sickle cell–hemoglobin C (HbSC), have inherited the gene for sickle cell disease (HbS) from one parent and the gene for hemoglobin C disease (HbC) from the ...

  5. Sickle cell trait - Wikipedia

    en.wikipedia.org/wiki/Sickle_cell_trait

    Those who are heterozygous for the sickle cell allele produce both normal and abnormal hemoglobin (the two alleles are codominant with respect to the actual concentration of hemoglobin in the circulating cells). Sickle cell disease is a blood disorder wherein there is a single amino acid substitution in the hemoglobin protein of the red blood ...

  6. Hemoglobinopathy - Wikipedia

    en.wikipedia.org/wiki/Hemoglobinopathy

    Sickle cell disorders, which are the most prevalent form of hemoglobinopathy. Sickle hemoglobin (HbS) is prone to polymerize when deoxygenated, precipitating within the red blood cell. This damages the RBC membrane resulting in its premature destruction and consequent anemia.

  7. Point mutation - Wikipedia

    en.wikipedia.org/wiki/Point_mutation

    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] The single replacement of the sixth amino acid in the beta-globin, glutamic acid, with valine results in deformed red blood cells. These sickle-shaped cells cannot carry nearly ...

  8. Protein biosynthesis - Wikipedia

    en.wikipedia.org/wiki/Protein_biosynthesis

    A comparison between an unaffected individual and an individual with sickle cell anaemia illustrating the different red blood cell shapes and differing blood flow within blood vessels. Sickle cell disease is a group of diseases caused by a mutation in a subunit of hemoglobin, a protein found in red blood cells responsible for transporting oxygen.

  9. Sick cell syndrome - Wikipedia

    en.wikipedia.org/wiki/Sick_cell_syndrome

    Sick cell syndrome is a medical condition characterised by reduced functioning of the cellular Na+/K+ pump, [1] which is responsible for maintaining the internal ion homeostasis. The clinical result is a rise in blood K+ level and drop of blood Na+ levels