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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 ]
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]
Global distribution of red blood cell abnormalities. Hemoglobin is a protein that transports oxygen in the blood. Genetic differences lead to structural variants in the hemoglobin protein structure.
Hemoglobin D; Hemoglobin D-Punjab; Hemoglobin E; Hemoglobin Hopkins-2; Hemoglobin Lepore syndrome; Hemoglobin O; Hemoglobin O-Arab; Hemoglobin subunit beta; Hemoglobin subunit zeta; Hemoglobin variants; Hemoglobin-G; Hemoglobin subunit alpha; Hemoglobin, alpha 2; Human β-globin locus
Embryonic Hb are expressed as early as four to six weeks of embryogenesis and disappear around the eighth week of gestation as they are replaced by fetal Hb. [11] [12] Embryonic Hbs include: Hb Gower-1, composed of two ζ (zeta) globins and two ε (epsilon) globins, i.e., ζ 2 ε 2; Hb Gower-2, composed of two α globins and two ε globins (α ...
A healthy level of hemoglobin for men is between 13.2 and 16.6 grams per deciliter, and in women between 11.6 and 15 g/d. [37] Normal adult hemoglobin is composed of four protein chains, two α and two β-globin chains arranged into a heterotetramer.
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 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 ...