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Hereditary elliptocytosis

Adapted from Lux DE, Becker PS Disorders of the red cell membrane skeleton hereditary spherocytosis and hereditary elliptocytosis. Chapter 95 in The Metabolic Basis of Inherited Disease, 6th ed. Scriver CR et al (editors). McGraw-Hill, 1989. [Pg.616]

Abnormalities in the Amount or Structure of Spectrin Cause Hereditary Spherocytosis Elliptocytosis... [Pg.617]

Hereditary elliptocytosis is a genetic disorder that is similar to hereditary spherocytosis except that affected red blood cells assume an elliptic, disk-hke shape, recognizable by microscopy. It is also due to abnormalities in spectrin some cases reflect abnormahties of band 4.1 or of glycophorin C. [Pg.617]

Spectrin forms an integral part of the erythrocyte cytoskeletal architecture any defects that disrupt the association of the spectrin heterotetra-mer or the interaction with any of the other submembranous proteins can result in RBC defects (reviewed in Hassoun and Palek, 1996). Indeed, abnormalities of the /3-spectrin N-terminus and the a-spectrin G-terminus affect the self-association site and result in hereditary elliptocytosis and hereditary pyropoikilocytosis (Delaunay, 1995 Delaunay and Dhermy, 1993 Palek and Jarolim, 1993). [Pg.230]

Becker PS, Lux SE Hereditary spherocytosis and hereditary elliptocytosis, in Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The Metabolic and Molecular Basis of Inherited Disease. 7th ed., Vol. 3- McGraw-Hill, New York, 1995, pp. 3513-3560. [Pg.74]

Spectrin forms the meshwork that provides red blood cells their shape. Its importance in the erythrocyte is demonstrated through spectrin mutations leading to hereditary elliptocytosis and hereditary spherocytosis. Hereditary elliptocytosis is an inherited blood disorder in which an abnormally large nnmber of erythrocytes are elliptical rather than the typical biconcave disc shape. [Pg.275]

R24. Ringelhann, B., Konotey-Ahulu, F. I. D., Lehmann, H., and Lorkin, P. A., A Ghanaian adult, homozygous for hereditary persistence of foetal haemoglobin and heterozygous for elliptocytosis. Acta Haematol. 43, 100-110 (1970). [Pg.246]

The intricate interactions of the spectrin-protein 4.1-actin complex may be of central importance in maintaining the structural integrity of the red cell membrane. Two genetic disorders affecting the red cell membrane skeleton are hereditary spherocytosis and hereditary elliptocytosis. The former, the most common congenital form of hemolytic anemia in persons of northern European descent, exhibits an autosomal dominant inheritance pattern. The red blood cells are spherical, osmotically fragile, and considerably reduced in life span. They undergo... [Pg.164]

HE = Hereditary elliptocytosis HPP = hereditary pyropykilocytosis HS = hereditary spherocytosis SAG = Southeast Asian ovalocytosis HSt = hereditary stomatocytosis HAc = hereditary acanthocytosis. [Pg.165]

Hemoglobinopathies, G6PD deficiency, and hereditary elliptocytosis in Bahrain.(Brief Communications) An article from Human Biology Sumitra Dash (2005) ISBN B00096ZIIY ... [Pg.62]


See other pages where Hereditary elliptocytosis is mentioned: [Pg.165]    [Pg.166]    [Pg.181]    [Pg.243]   
See also in sourсe #XX -- [ Pg.617 ]




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