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Hemoglobin C (abbreviated as HbC) is an abnormal hemoglobin in which glutamic acid residue at the 6th position of the β-globin chain is replaced with a lysine residue due to a point mutation in the HBB gene. [1] People with one copy of the gene for hemoglobin C do not experience symptoms, but can pass the abnormal gene on to their children.
Hemoglobin variants occur when there are mutations in specific genes that code for the protein chains, known as globins, which make up the hemoglobin molecule. This leads to amino acid substitutions in the hemoglobin molecule that could affect the structure, properties, and/or the stability of the hemoglobin molecule.
Unstable hemoglobin variants are mutations that cause the hemoglobin molecule to precipitate, spontaneously or upon oxidative stress, resulting in hemolytic anemia. Precipitated, denatured hemoglobin can attach to the inner layer of the plasma membrane of the red blood cell (RBC) forming Heinz bodies , leading to premature destruction of the ...
[17] [32] Hemoglobin C (HbC) is an abnormal hemoglobin with substitution of a lysine residue for glutamic acid residue of the β-globin chain, at exactly the same β-6 position as the HbS mutation. The "C" designation for HbC is from the name of the city where it was discovered—Christchurch, New Zealand.
Beta-thalassemia (β-thalassemia) is an autosomal dominant blood condition that results in the reduction of hemoglobin production. The cause for the disorder is related to a genetic mutation of the HBB gene. This gene is responsible for providing the instructions to produce beta-globin; one of the major components of hemoglobin.
An Alabama woman "is recuperating well" after undergoing a pig kidney transplant in New York City, per reports. Towana Looney, 53, underwent surgery using the organ from a genetically manipulated ...
Non-synonymous mutations in the hemoglobin gene of multiple species living at high elevations (Oreotrochilus, A. castelnaudii, C. violifer, P. gigas, and A. viridicuada) have caused the protein to have less of an affinity for inositol hexaphosphate (IHP), a molecule found in birds that has a similar role as 2,3-BPG in humans; this results in ...
David M. Cote is among the highest-paid CEOs in the country. He spent 25 years with General Electric, mostly as a senior executive. In 1999, he left the company and became the chairman, president and CEO of TRW Inc., a provider of products and services for the aerospace, information systems and automotive markets, where he worked until 2002.