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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 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.
The test uses the principles of gel electrophoresis to separate out the various types of hemoglobin and is a type of native gel electrophoresis.After the sample has been treated to release the hemoglobin from the red cells, it is introduced into a porous gel (usually made of agarose or cellulose acetate) and subjected to an electrical field, most commonly in an alkaline medium.
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 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 ...
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 ]
15122 Ensembl ENSG00000188536 ENSMUSG00000069919 UniProt P69905 Q91VB8 RefSeq (mRNA) NM_000517 NM_008218 RefSeq (protein) NP_000508 NP_000508.1 NP_000549.1 NP_001077424 Location (UCSC) Chr 16: 0.17 – 0.17 Mb Chr 11: 32.23 – 32.23 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Hemoglobin, alpha 2 also known as HBA2 is a gene that in humans codes for the alpha globin chain of ...