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Hemoglobin variants occur when there are genetic changes in specific genes, or globins, that cause changes or alterations in the amino acid. They could affect the structure, behavior, the production rate, and/or the stability of that specific gene. Usually there are four genes that code for alpha globin and two genes that code for beta globin.
Specialty. Hematology. Hemoglobinopathy is the medical term for a group of inherited blood disorders involving the hemoglobin, the protein of red blood cells. [1] They are single-gene disorders and, in most cases, they are inherited as autosomal co-dominant traits. [2]
Hemoglobin E (HbE) is an abnormal hemoglobin with a single point mutation in the β chain. At position 26 there is a change in the amino acid, from glutamic acid to lysine (E26K). Hemoglobin E is very common among people of Southeast Asian, Northeast Indian, Sri Lankan and Bangladeshi descent. [1][2]
Hemoglobin D (HbD) is a variant of hemoglobin, a protein complex that makes up red blood cells. Based on the locations of the original identification, it has been known by several names such as hemoglobin D-Los Angeles, hemoglobin D-Punjab, [1] D-North Carolina, D-Portugal, D-Oak Ridge, and D-Chicago.[2] Hemoglobin D-Los Angeles was the first ...
Hematology. Within the medical specialty of hematology, Hemoglobin D-Punjab, also known as hemoglobin D-Los Angeles, [1] D-North Carolina, D-Portugal, D-Oak Ridge, and D-Chicago, [2] is a hemoglobin variant. It originates from a point mutation in the human β-globin locus and is one of the most common hemoglobin variants worldwide. [1]
The Hopkins 2 variant of hemoglobin is the result of a mutation. Specifically, the mutated protein is composed of two alpha chains. The mutation for the Hopkins-2 variant of hemoglobin is located on the surface of the molecule. Within the Ho-2 variant, aspartic acid replaces histidine at position 112 on the alpha chain. Dr.
Hemoglobin G, Hemoglobin G-Philadelphia, or hbG, is a mutation of the cells that oxygenate blood. The G-Philadelphia variant is most commonly found in African Americans, with carriers being every 1 in 5,000. [ 1 ] The trait is normal-functioning and has no known negative effects. [ 2 ]
Hemoglobin Lepore syndrome is typically an asymptomatic hemoglobinopathy, which is caused by an autosomal recessive genetic mutation.The Hb Lepore variant, consisting of two normal alpha globin chains (HBA) and two delta-beta globin fusion chains which occurs due to a "crossover" between the delta (HBD) and beta globin (HBB) gene loci during meiosis and was first identified in the Lepore ...