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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.
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 variants are not necessarily pathological. For example, Hb Lepore-Boston and G-Waimanalo are two variants which are non-pathological. [38] There are in excess of 1,000 known hemoglobin variants. [39] A research database of hemoglobin variants is maintained by Penn State University. [40] A few of these variants are listed below.
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. [2] Dr.
n/a Ensembl ENSG00000223609 n/a UniProt P02042 n/a RefSeq (mRNA) NM_000519 n/a RefSeq (protein) NP_000510 n/a Location (UCSC) Chr 11: 5.23 – 5.24 Mb n/a PubMed search n/a Wikidata View/Edit Human Hemoglobin subunit delta is a protein that in humans is encoded by the HBD gene. Function The delta (HBD) and beta (HBB) genes are normally expressed in the adult: two alpha chains plus two beta ...
Heredity of hemoglobin E/β-thalassemia. People who have hemoglobin E/β-thalassemia have inherited one gene for hemoglobin E from one parent and one gene for β-thalassemia from the other parent. Hemoglobin E/β-thalassemia is a severe disease, and it still has no universal cure.
The hemoglobin was named hemoglobin III, [24] but hemoglobin C was eventually used. [ 25 ] [ 26 ] By 1954, it was found that the mutant hemoglobin was highly prevalent in West Africa. [ 27 ] [ 28 ] In 1960, Vernon Ingram and J. A. Hunt at the University of Cambridge discovered that the mutation was a single amino acid replacement of glutamic ...