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Sickle cell disease (SCD), also simply called sickle cell, is a group of hemoglobin-related blood disorders typically inherited. The most common type is known as sickle cell anemia. It results in an abnormality in the oxygen-carrying protein haemoglobin found in red blood cells.
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.
Sickle cell anemia; Hemoglobinopathies causing unstable hemoglobins; Paroxysmal nocturnal hemoglobinuria; Extrinsic (extracorpuscular) abnormalities Antibody-mediated Warm autoimmune hemolytic anemia is caused by autoimmune attack against red blood cells, primarily by IgG. It is the most common of the autoimmune hemolytic diseases.
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).
Sickle cell anemia: 11p15: P Siderius X-linked mental retardation syndrome: PHF8: X-Linked Recessive Sideroblastic anemia: ABCB7, SLC25A38, GLRX5: recessive Sly syndrome: GUSB: recessive 1:250,000 Smith–Lemli–Opitz syndrome: DHCR7: recessive 1:20,000-60,000 Smith–Magenis syndrome: 17p11.2 dominant 1:15,000-25,000 Snyder–Robinson ...
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Sickle cell anaemia: 1 in 625: Cystic fibrosis: 1 in 2,000 Tay–Sachs disease: 1 in 3,000 Phenylketonuria: 1 in 12,000 Autosomal recessive polycystic kidney disease: 1 in 20,000: Mucopolysaccharidoses: 1 in 25,000 Lysosomal acid lipase deficiency: 1 in 40,000 Glycogen storage diseases: 1 in 50,000 Galactosemia: 1 in 57,000 X-linked Duchenne ...
For example, sickle-cell anemia is a human genetic disease that results from a single base difference within the coding region for the β-globin section of hemoglobin, causing a single amino acid change that changes hemoglobin's physical properties.
He is best known for his research on sickle cell anemia, but also published articles about Hodgkin's disease, the gastrointestinal health of children, and the physical development of African American children.
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