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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. Medical genetics of Jews - Wikipedia

    en.wikipedia.org/wiki/Medical_genetics_of_Jews

    This would be similar to the hemoglobin allele which is responsible for sickle-cell disease, but solely in people with two copies; those with just one copy of the allele have a sickle cell trait and gain partial immunity to malaria as a result. This effect is called heterozygote advantage. [27]

  4. Overdominance - Wikipedia

    en.wikipedia.org/wiki/Overdominance

    Overdominance is a phenomenon in genetics where the phenotype of the heterozygote lies outside the phenotypical range of both homozygous parents. Overdominance can also be described as heterozygote advantage regulated by a single genomic locus, wherein heterozygous individuals have a higher fitness than homozygous individuals.

  5. Thalassemia - Wikipedia

    en.wikipedia.org/wiki/Thalassemia

    Thalassemias are inherited blood disorders that result in abnormal hemoglobin. [7] Symptoms depend on the type of thalassemia and can vary from none to severe. [1] Often there is mild to severe anemia (low red blood cells or hemoglobin) as thalassemia can affect the production of red blood cells and also affect how long the red blood cells live. [1]

  6. James V. Neel - Wikipedia

    en.wikipedia.org/wiki/James_V._Neel

    1949: "The Inheritance of Sickle Cell Anemia"- Published in Science 110: 64-66, this paper explored how a single gene mutation is responsible for the inheritance of sickle cell anemia. Neel's research and analysis supported the pattern of a mutation occurrence in the hemoglobin subunit β (HHB gene) which is responsible for providing ...

  7. 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. [20] This vein (4) shows the interaction between the malaria sporozoites (6) with sickle cells (3) and regular cells (1).

  8. CRISPR gene editing - Wikipedia

    en.wikipedia.org/wiki/CRISPR_gene_editing

    In November 2023, the United Kingdom's Medicines and Healthcare products Regulatory Agency (MHRA) became the first in the world to approve the use of the first drug based on CRISPR gene editing, Casgevy, to treat sickle-cell anemia and beta thalassemia.

  9. Glucose-6-phosphate dehydrogenase deficiency - Wikipedia

    en.wikipedia.org/wiki/Glucose-6-phosphate_de...

    Genetic (X-linked recessive) [1] Risk factors: Triggered by infections, certain medication, stress, foods such as fava beans [1] [3] Diagnostic method: Based on symptoms, blood test, genetic testing [2] Differential diagnosis: Pyruvate kinase deficiency, hereditary spherocytosis, sickle cell anemia [2] Treatment