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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.
Heart rate variability visualized with R-R interval changes Electrocardiogram (ECG) recording of a canine heart that illustrates beat-to-beat variability in R–R interval (top) and heart rate (bottom). Heart rate variability (HRV) is the physiological phenomenon of variation in the time interval between heartbeats. It is measured by 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 ]
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 ...
Some individuals with the homozygous H63D variant may show signs of heart disease, cardiomyopathies, and disturbances in the calcium channels in particular. [ 20 ] [ 21 ] The homozygous H63D variant is an indicator of the iron metabolism disorder hemochromatosis, which may increase the risk of developing a fatty liver . [ 22 ]
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 ]
This natural variation is known as heart rate variability (HRV). However, certain cardiac conditions may cause the individual IBI values to become nearly constant, resulting in the HRV being nearly zero. This can happen, for example, during periods of exercise as the heart rate increases and the beats become regular.
QT interval variability (QTV) refers to the physiological phenomenon of beat-to-beat fluctuations in QT interval of electrocardiograms. Increased QTV appears to be a marker of arrhythmic and cardiovascular death; it may also play a role for noninvasive assessment of sympathetic nervous system activity.