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Iron overload (also known as haemochromatosis or hemochromatosis) is the abnormal and increased accumulation of total iron in the body, leading to organ damage. [1] The primary mechanism of organ damage is oxidative stress, as elevated intracellular iron levels increase free radical formation via the Fenton reaction.
Haemochromatosis is protean in its manifestations, i.e., often presenting with signs or symptoms suggestive of other diagnoses that affect specific organ systems.Many of the signs and symptoms below are uncommon, and most patients with the hereditary form of haemochromatosis do not show any overt signs of disease nor do they have premature morbidity, if they are diagnosed early, but, more ...
High heritability of a trait, consequently, does not necessarily mean that the trait is not very susceptible to environmental influences. [8] Heritability can also change as a result of changes in the environment, migration, inbreeding , or how heritability itself is measured in the population under study. [ 9 ]
[1] [13] Evidence so far still suggests a strong genetic component, with one of the largest and most recent studies estimating the heritability at 83%. [14] Many of the non-autistic co-twins had learning or social disabilities. For adult siblings the risk for having one or more features of the broader autism phenotype might be as high as 30%. [15]
While the heritability is very high, no specific genes have been conclusively associated with bipolar, and a number of hypotheses have been posited to explain this fact. "The polygenic common rare variant" hypothesis suggests that a large number of risk conferring genes are carried in a population, and that a disease manifests when a person has ...
Twin and family studies have long been used to estimate variance explained by particular categories of genetic and environmental causes. Across a wide variety of human traits studied, there is typically minimal shared-environment influence, considerable non-shared environment influence, and a large genetic component (mostly additive), which is on average ~50% and sometimes much higher for some ...
Normal adult hemoglobin is composed of four protein chains, two α and two β-globin chains arranged into a heterotetramer. In thalassemia, patients have defects in the noncoding region of either the α or β-globin genes, causing ineffective production of normal alpha- or beta-globin chains, which can lead to ineffective erythropoiesis ...
The Philadelphia chromosome was first discovered and described in 1959 by David Hungerford at the Lankenau Hospital's Institute for Cancer Research, which merged with the American Oncology Hospital in 1974 to create Fox Chase Cancer Center, [29] along with Peter Nowell from the University of Pennsylvania School of Medicine. The genetic ...