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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. James V. Neel - Wikipedia

    en.wikipedia.org/wiki/James_V._Neel

    Neel first found the inheritance of sickle cell anemia through its genetic basis. This was the first step to learning all of what we know genetically about sickle cell disease. He found that the sickle cell trait itself was heterozygous and the disease was expressed when the gene was recessive homozygous.

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

  5. Genetic disorder - Wikipedia

    en.wikipedia.org/wiki/Genetic_disorder

    Medical genetics: A genetic disorder is a health problem caused by one or more abnormalities in the genome. ... Sickle cell anemia is also considered a recessive ...

  6. Mendelian traits in humans - Wikipedia

    en.wikipedia.org/wiki/Mendelian_traits_in_humans

    Autosomal dominant 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]

  7. 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 ...

  8. 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.

  9. Hematologic disease - Wikipedia

    en.wikipedia.org/wiki/Hematologic_disease

    Sickle cell disease; Thalassemia; Methemoglobinemia; Anemias (lack of red blood cells or hemoglobin) Iron-deficiency anemia; Megaloblastic anemia. Vitamin B 12 deficiency Pernicious anemia; Folate deficiency; Hemolytic anemias (destruction of red blood cells) Genetic disorders of RBC membrane Hereditary spherocytosis; Hereditary elliptocytosis