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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 ...
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 ...
Sickle cell anemia is a classic example of the mixed benefit given by the staying power of pleiotropic genes, as the mutation to Hb-S provides the fitness benefit of malaria resistance to heterozygotes as sickle cell trait, while homozygotes have significantly lowered life expectancy—what is known as "heterozygote advantage". Since both of ...
A well-studied case is that of sickle cell anemia in humans, a hereditary disease that damages red blood cells. Sickle cell anemia is caused by the inheritance of an allele (HgbS) of the hemoglobin gene from both parents. In such individuals, the hemoglobin in red blood cells is extremely sensitive to oxygen deprivation, which results in ...
Sickle Cell Anemia, a Molecular Disease. " Sickle Cell Anemia, a Molecular Disease " is a 1949 scientific paper by Linus Pauling, Harvey A. Itano, Seymour J. Singer and Ibert C. Wells that established sickle-cell anemia as a genetic disease in which affected individuals have a different form of the metalloprotein hemoglobin in their blood.
Dup - Duplication of a gene or genes. C – Whole chromosome extra, missing, or both (see chromosome abnormality) T – Trinucleotide repeat disorders: gene is extended in length. A cherry red spot, which can be a feature of several storage disorders, including Tay–Sachs disease. Disorder. Chromosome. Mutation.
Hematology. 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 ...
Acute chest syndrome. The acute chest syndrome is a vaso-occlusive crisis of the pulmonary vasculature commonly seen in people with sickle cell anemia. This condition commonly manifests with a new opacification of the lung (s) on a chest x-ray. [1]
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