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Sickle cell disease is a group of inherited blood disorders that affect the shape and function of red blood cells. It can cause pain, anemia, infections, stroke, and organ damage. Learn about the genetics, diagnosis, and management of sickle cell disease.
Sickle cell trait is a condition where a person has one abnormal allele of the hemoglobin beta gene (genotype AS) and produces both normal and abnormal hemoglobin. It is associated with some resistance to malaria, but also rare complications such as sickle cell crisis, renal medullary carcinoma, and urinary tract infection.
Learn about human traits that are influenced by Mendelian inheritance, such as albinism, sickle-cell disease, and lactase persistence. Find out the patterns of inheritance, examples, and non-Mendelian traits.
Britain's medicines regulator has authorized the world's first gene therapy treatment for sickle cell disease, in a move that could offer relief to thousands of people with the crippling disease ...
A point mutation is a genetic change of a single nucleotide base in DNA or RNA. Learn about the different types of point mutations, such as transitions, transversions, missense, nonsense and frameshift, and how they affect protein sequence and function.
Lovotibeglogene autotemcel, sold under the brand name Lyfgenia, is a lentiviral gene therapy used for the treatment of sickle cell disease. [1] [3] [4] [5]The most common side effects include stomatitis (mouth sores of the lips, mouth, and throat), low levels of platelets, white blood cells, and red blood cells, and febrile neutropenia (fever and low white blood cell count), consistent with ...
Learn about the genetic phenomenon of heterozygote advantage, where the heterozygous genotype has higher fitness than either homozygote. Find out how it works, why it occurs, and what examples exist in nature and humans.
A 1949 paper by Pauling and colleagues that established sickle cell anemia as a genetic disease of hemoglobin structure and function. The paper introduced the concept of a molecular disease and influenced the development of molecular medicine and evolutionary theory.