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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.
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 ...
Hemoglobin D/ beta thalassemia: common in the northwestern parts of India and Pakistan (Punjab region). [59] Hemoglobin E/ beta thalassemia: common in Cambodia, Thailand, and parts of India, it is clinically similar to β thalassemia major or β thalassemia intermedia. [60]
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
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 ...
Their red blood cells contain both hemoglobin C and either normal hemoglobin A or hemoglobin S. Hemoglobin C mutation is an autosomal recessive disorder that results from the biparental inheritance of the allele that encodes for hemoglobin C. [6] If both parents are carriers of hemoglobin C, there is a chance of having a child with hemoglobin C ...