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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 ...
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 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 ]
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 ]
It is also the most frequent hemoglobin variant in Xinjiang Uyghur Autonomous Region of China, with a 1997 study indicating that Hemoglobin D-Punjab accounts for 55.6% of the total hemoglobin variants. [2] Hemoglobin D is a result of a mutation in the one or both of the Beta-chains that make up hemoglobin molecules.
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.
A number of metrics have been proposed for QTV quantification. The QT variability index (QTVi) has been most frequently reported in the literature: = / / (), where , , , and denote standard deviation and mean of QT interval and heart rate time series, respectively.