hereditary elliptocytosis การใช้

• A schematic diagram representing the relationships between cytoskeletal molecules as relevant to hereditary elliptocytosis.
• Common hereditary elliptocytosis is the most common form of elliptocytosis, and the form most extensively researched.
• Almost all forms of hereditary elliptocytosis are autosomal dominant, and both sexes are therefore at equal risk of having the condition.
• Disorders of the proteins in these membranes are associated with many disorders, such as hereditary spherocytosis, hereditary elliptocytosis, hereditary stomatocytosis, and paroxysmal nocturnal hemoglobinuria.
• The most important exception to this rule of autosomal dominance is for a subtype of hereditary elliptocytosis called hereditary pyropoikilocytosis ( HPP ), which is autosomal recessive.
• These mutations have a common end result; they destabilise the Figure 2-A schematic diagram representing the relationships between cytoskeletal molecules as relevant to hereditary elliptocytosis.
• The incidence of hereditary elliptocytosis is hard to determine, as many sufferers of the milder forms of the disorder are asymptomatic and their condition never comes to medical attention.
• However relation to membrane structural stability has been implicated in the concurrence of aldolase A deficiency and dominant ( mild ) hereditary elliptocytosis, speculatively also relating to ATP depletion.
• HPP has been associated with a defect of the erythrocyte membrane protein spectrin and with spectrin deficiency . It was characterized in 1975 . It is considered a severe form of hereditary elliptocytosis.
• Because it can confer resistance to malaria, some subtypes of hereditary elliptocytosis are significantly more prevalent in regions where malaria is Malayan natives its incidence is 1500-2000 per 10, 000.
• 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.
• 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.
• 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.