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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.
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 ...
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 J is an abnormal hemoglobin, an alpha globin gene variant and present in various geographic locations. It was first reported in a black American family [1] in 1956, and later reported from Indonesia, India, and other parts of the world. Hemoglobin J reported from Meerut India shows the mutation of 120th alanine to glutamic acid on ...
The most commonly used method for Hemoglobin analysis used is alkaline cellulose acetate electrophoresis at pH 8.6, due to its ability to split hemoglobin into its common variants, however a review of the College of American Pathologists (CAP) Hemoglobinopahty Survey Reports has provided the number of laboratories that utilise high-performance ...
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]
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 ...
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 ...