elliptocytosis การใช้

• FACL4was discovered to bedeleted in a family with Alport syndrome and elliptocytosis.
• 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.
• Common hereditary elliptocytosis is the most common form of elliptocytosis, and the form most extensively researched.
• Elliptocytosis is a hematologic disorder characterized by elliptically shaped erythrocytes and a variable degree of hemolytic anemia.
• Mutations of spectrin and protein 4.1 are associated with elliptocytosis or spherocytosis and anemia of varying severity.
• Almost all forms of hereditary elliptocytosis are autosomal dominant, and both sexes are therefore at equal risk of having the condition.
• Because chronic haemolysis increases an individual's risk of gallstones, people with elliptocytosis have an increased risk of suffering from gallstones.
• Even when looking only at this form of elliptocytosis, there is a high degree of variability in the clinical severity of its subtypes.
• Inherited as an autosomal dominant, elliptocytosis results from mutation in any one of several genes encoding proteins of the red cell membrane skeleton.
• Anemia of chronic disease shows unremarkable RBCs, iron deficiency shows anisocytosis, anisochromia and elliptocytosis, and thalessemias demonstrate target cells and coarse basophilic stippling.
• 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.
• This risk is relative to the severity of the disease, and those with symptomatic elliptocytosis should have regular abdominal ultrasounds to monitor the progression of their gall bladder disease.
• 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.