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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 H (β 4) – A variant form of hemoglobin, formed by a tetramer of β chains, which may be present in variants of α thalassemia. Hemoglobin Barts (γ 4) – A variant form of hemoglobin, formed by a tetramer of γ chains, which may be present in variants of α thalassemia. Hemoglobin S (α 2 β S 2) – A variant form of hemoglobin ...
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 ]
The majority of hemoglobin variants do not cause disease and are most commonly discovered either incidentally or through newborn screening. Hb variants can usually be detected by protein-based assay methods such as electrophoresis, [15] isoelectric focusing, [16] or high-performance liquid chromatography. [17]
Hopkins-2 can also interact specifically with Hemoglobin S. Hemoglobin S is the most common abnormal hemoglobin variant. Hemoglobin S is the variant that causes sickle cell, which is a disorder in which red blood cells break down and become abnormally shaped. Hemoglobin S has two beta chains, whereas hemoglobin Hopkins-2 has two alpha chains.
Hemoglobin is a protein found in red blood cells, and is responsible for the transportation of oxygen through the body. [15] There are two subunits that make up the hemoglobin protein: beta-globins and alpha-globins. [16] Beta-hemoglobin is created from the genetic information on the HBB, or "hemoglobin, beta" gene found on chromosome 11p15.5. [17]
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 ...
Hemoglobin A (HbA), also known as adult hemoglobin, hemoglobin A1 or α 2 β 2, is the most common human hemoglobin tetramer, accounting for over 97% of the total red blood cell hemoglobin. [1] Hemoglobin is an oxygen-binding protein, found in erythrocytes , which transports oxygen from the lungs to the tissues. [ 2 ]