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MeSH Review:

Anemia, Dyserythropoietic, Congenital

Fargion, S. et al., Gasparini, P. et al., Chui, D. et al., Colită, A. et al., Lynch, R.E. et al., et al.

Carpenter, Zimmerman, Ware,

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Disease relevance of Anemia, Dyserythropoietic, Congenital

This report points out the need to consider congenital dyserythropoietic anemia in patients with hemochromatosis and unexplained macrocytosis and, conversely, to check for the presence of hereditary hemochromatosis in patients with congenital dyserythropoietic anemia and severe iron overload [1].
Susceptibility to hemolysis in acidified serum is a pathognomonic feature of hereditary erythroblastic multinuclearity with a positive acidified serum lysis test (HEMPAS, congenital dyserythropoietic anemia type II) [2].
Hepcidin was found to be suppressed in patients with thalassemia syndromes and congenital dyserythropoietic anemia type 1 and was undetectable in patients with juvenile hemochromatosis with HAMP mutations [3].
Acute parvovirus B19 infection mimicking congenital dyserythropoietic anemia [4].
Type II congenital dyserythropoietic anemia in a patient with ectodermal dysplasia. Distinction from dyskeratosis congenita [5].

High impact information on Anemia, Dyserythropoietic, Congenital

Here we characterize a zebrafish mutant, retsina (ret), that exhibits an erythroid-specific defect in cell division with marked dyserythropoiesis similar to human congenital dyserythropoietic anemia [6].
A patient with a novel form of congenital dyserythropoietic anemia (CDA) with persistent embryonic and fetal globins and absent red cell CD44 protein was studied because of reduced CHIP-associated Colton antigens [7].
Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1 [8].
Three main types of CDA have been distinguished: CDA I and CDA III, whose loci have been already mapped, and CDA II (MIM 224100), the most frequent among CDAs, which is transmitted as an autosomal recessive trait and is known also as "HEMPAS" (hereditary erythroblast multinuclearity with positive acidified serum) [9].
Incomplete synthesis of N-glycans in congenital dyserythropoietic anemia type II caused by a defect in the gene encoding alpha-mannosidase II [10].

Chemical compound and disease context of Anemia, Dyserythropoietic, Congenital

The molecular basis for the considerable variation of serum bilirubin levels and the incidence of gallstone formation in patients with congenital dyserythropoietic anemia (CDA) type II are unknown [11].
Use of subcutaneous deferoxamine in a child with hemochromatosis associated with congenital dyserythropoietic anemia, type I [12].
The ultrastructural and erythrokinetic characteristics of vitamin E deficiency in swine were investigated in an effort to evaluate the suitability of the swine disorder as a model of the human congenital dyserythropoietic anemias [13].
The case of two sisters is reported in whom morphological (multinucleated erythroblasts in the bone marrow) and serological (positive Ham test, negative sucrose and water-sugar tests) characteristics of a congenital dyserythropoietic anemia type II were found [14].

Biological context of Anemia, Dyserythropoietic, Congenital

These studies reveal cell-type-specific variations in N-linked oligosaccharide biosynthesis and an essential role for alphaM-II in the formation of erythroid complex N-glycans. alphaM-II deficiency elicits a phenotype in mice that correlates with human congenital dyserythropoietic anemia type II [15].
Thoracic masses resulting from extramedullary hematopoiesis developed in two sisters of Moroccan origin with congenital dyserythropoietic anemia type II (HEMPAS) [16].

Anatomical context of Anemia, Dyserythropoietic, Congenital

Abnormal lipid composition of the red cell membrane in congenital dyserythropoietic anemia type II (HEMPAS) [17].
In this study we report results regarding erythrocytes deformability in congenital dyserythropoietic anemia type II (HEMPAS) by the use of LORCA (Laser-assisted Optical Rotational Cell Analyzer) [18].

Gene context of Anemia, Dyserythropoietic, Congenital

Congenital dyserythropoietic anemia type II associated with G6PD Seattle in a Sicilian child [19].
Hereditary hemochromatosis in a patient with congenital dyserythropoietic anemia [1].
These results suggest that the primary defect of HEMPAS lies in the lowered activity of N-acetylglucosaminyltransferase II [20].
Decreased band 3 anion transport activity and band 3 clusterization in congenital dyserythropoietic anemia type II [21].
Precipitation of beta-globin chains within the erythropoietic cells of a patient with congenital dyserythropoietic anemia, type III [22].

References

Hereditary hemochromatosis in a patient with congenital dyserythropoietic anemia. Fargion, S., Valenti, L., Fracanzani, A.L., Sampietro, M., Cappellini, M.D., Scaccabarozzi, A., Soligo, D., Mariani, C., Fiorelli, G. Blood (2000) [Pubmed]
Aberrant regulation of complement by the erythrocytes of hereditary erythroblastic multinuclearity with a positive acidified serum lysis test (HEMPAS). Tomita, A., Parker, C.J. Blood (1994) [Pubmed]
Hepcidin in iron overload disorders. Papanikolaou, G., Tzilianos, M., Christakis, J.I., Bogdanos, D., Tsimirika, K., MacFarlane, J., Goldberg, Y.P., Sakellaropoulos, N., Ganz, T., Nemeth, E. Blood (2005) [Pubmed]
Acute parvovirus B19 infection mimicking congenital dyserythropoietic anemia. Carpenter, S.L., Zimmerman, S.A., Ware, R.E. J. Pediatr. Hematol. Oncol. (2004) [Pubmed]
Type II congenital dyserythropoietic anemia in a patient with ectodermal dysplasia. Distinction from dyskeratosis congenita. Sykora, K.W., Niedich, J., Price, J., Bussel, J. The American journal of pediatric hematology/oncology. (1994) [Pubmed]
Cell-specific mitotic defect and dyserythropoiesis associated with erythroid band 3 deficiency. Paw, B.H., Davidson, A.J., Zhou, Y., Li, R., Pratt, S.J., Lee, C., Trede, N.S., Brownlie, A., Donovan, A., Liao, E.C., Ziai, J.M., Drejer, A.H., Guo, W., Kim, C.H., Gwynn, B., Peters, L.L., Chernova, M.N., Alper, S.L., Zapata, A., Wickramasinghe, S.N., Lee, M.J., Lux, S.E., Fritz, A., Postlethwait, J.H., Zon, L.I. Nat. Genet. (2003) [Pubmed]
Human red cell Aquaporin CHIP. II. Expression during normal fetal development and in a novel form of congenital dyserythropoietic anemia. Agre, P., Smith, B.L., Baumgarten, R., Preston, G.M., Pressman, E., Wilson, P., Illum, N., Anstee, D.J., Lande, M.B., Zeidel, M.L. J. Clin. Invest. (1994) [Pubmed]
Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. Dgany, O., Avidan, N., Delaunay, J., Krasnov, T., Shalmon, L., Shalev, H., Eidelitz-Markus, T., Kapelushnik, J., Cattan, D., Pariente, A., Tulliez, M., Crétien, A., Schischmanoff, P.O., Iolascon, A., Fibach, E., Koren, A., Rössler, J., Le Merrer, M., Yaniv, I., Zaizov, R., Ben-Asher, E., Olender, T., Lancet, D., Beckmann, J.S., Tamary, H. Am. J. Hum. Genet. (2002) [Pubmed]
Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genomewide search. Gasparini, P., Miraglia del Giudice, E., Delaunay, J., Totaro, A., Granatiero, M., Melchionda, S., Zelante, L., Iolascon, A. Am. J. Hum. Genet. (1997) [Pubmed]
Incomplete synthesis of N-glycans in congenital dyserythropoietic anemia type II caused by a defect in the gene encoding alpha-mannosidase II. Fukuda, M.N., Masri, K.A., Dell, A., Luzzatto, L., Moremen, K.W. Proc. Natl. Acad. Sci. U.S.A. (1990) [Pubmed]
Gilbert's syndrome accounts for the phenotypic variability of congenital dyserythropoietic anemia type II (CDA-II). Perrotta, S., del Giudice, E.M., Carbone, R., Servedio, V., Schettini, F., Nobili, B., Iolascon, A. J. Pediatr. (2000) [Pubmed]
Use of subcutaneous deferoxamine in a child with hemochromatosis associated with congenital dyserythropoietic anemia, type I. Smithson, W.A., Perrault, J. Mayo Clin. Proc. (1982) [Pubmed]
The anemia of vitamin E deficiency in swine: an experimental model of the human congenital dyserythropoietic anemias. Lynch, R.E., Hammar, S.P., Lee, G.R., Cartwright, G.E. Am. J. Hematol. (1977) [Pubmed]
Congenital dyserythropoietic anemia type II. Radioautographic, ultrastructural and cytogenetical study in two familial cases. Colită, A., Ursea, C., Jost, A., Butoianu, E., Nicoara, S.T., Grigoriu, G.M., Berceanu, S. Médecine interne. (1976) [Pubmed]
Alpha-mannosidase-II deficiency results in dyserythropoiesis and unveils an alternate pathway in oligosaccharide biosynthesis. Chui, D., Oh-Eda, M., Liao, Y.F., Panneerselvam, K., Lal, A., Marek, K.W., Freeze, H.H., Moremen, K.W., Fukuda, M.N., Marth, J.D. Cell (1997) [Pubmed]
Paravertebral extramedullary hematopoiesis associated with improvement of anemia in congenital dyserythropoietic anemia type II. Lugassy, G., Michaeli, J., Harats, N., Libson, E., Rachmilewitz, E.A. Am. J. Hematol. (1986) [Pubmed]
Abnormal lipid composition of the red cell membrane in congenital dyserythropoietic anemia type II (HEMPAS). Joseph, K.C., Gockerman, J.P., Alving, C.R. J. Lab. Clin. Med. (1975) [Pubmed]
Reduced deformability of erythrocytes as feature of congenital dyserythropoietic anaemia type II (HEMPAS). Izzo, P., Spagnuolo, A., Manicone, A., Nazzaro, P., Lauta, V.M. Clin. Hemorheol. Microcirc. (1999) [Pubmed]
Congenital dyserythropoietic anemia type II associated with G6PD Seattle in a Sicilian child. Gangarossa, S., Romano, V., Miraglia del Giudice, E., Perrotta, S., Iolascon, A., Schiliro, G. Acta Haematol. (1995) [Pubmed]
Primary defect of congenital dyserythropoietic anemia type II. Failure in glycosylation of erythrocyte lactosaminoglycan proteins caused by lowered N-acetylglucosaminyltransferase II. Fukuda, M.N., Dell, A., Scartezzini, P. J. Biol. Chem. (1987) [Pubmed]
Decreased band 3 anion transport activity and band 3 clusterization in congenital dyserythropoietic anemia type II. De Franceschi, L., Turrini, F., del Giudice, E.M., Perrotta, S., Olivieri, O., Corrocher, R., Mannu, F., Iolascon, A. Exp. Hematol. (1998) [Pubmed]
Precipitation of beta-globin chains within the erythropoietic cells of a patient with congenital dyserythropoietic anemia, type III. Wickramasinghe, S.N., Goudsmit, R. Br. J. Haematol. (1987) [Pubmed]

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