This variant of haploinsufficiency is only seen in two other human diseases : Erythropoietic protoporphyria, caused by mutations in the FECH gene; and hereditary elliptocytosis, caused by mutations in the spectrin gene.
12.
Bite cells and / or blistor cells for oxidative hemolysis, Acanthocytes for pyruvate kinase deficiency or McLeod phenotype, Sickle cells for sickle cell anemia, Spherocytes for immune-mediated hemolysis or hereditary spherocytosis, Elliptocytosis for iron deficiency or hereditary elliptocytosis and schistocytes for intravascular hemolysis.
13.
Unlike those with the Leach phenotype of common hereditary elliptocytosis ( see above ), there is a clinically significant reduction in both disease severity and prevalence of malaria in those with SAO . Because of this, the 35 % incidence rate of SAO along the north coast of Madang Province in Papua New Guinea, where malaria in endemic, is a good example of natural selection.
14.
For instance, the most common genotype responsible for HPP occurs when the affected individual inherits an ?-spectrin mutation from one parent ( i . e . one parent has hereditary elliptocytosis ) and the other parent passes on an as-yet-undefined defect that causes the affected individual's cells to preferentially produce the defective ?-spectrin rather than normal ?-spectrin.
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