Hb Köln [α2β298(FG5) val-met] identified by DNA analysis in a Brazilian family

Brazilian Journal of Genetics

Volumn 20, Issue 4, 1997, Pages 745-748

  Miranda, Silvia R P ^a   Fonseca, Silvana F ^b   Figueiredo, Maria S ^b   Yamamoto, Myoko ^b   Grotto, Helena Z W ^a   Saad, Sara T O ^a   Costa, Fernando F ^a  

^a UNIVERSITY OF CAMPINAS   (Brazil)

^b FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

2 PROPANOL; BETA GLOBIN; CELLULOSE ACETATE; HEMOGLOBIN VARIANT; UNCLASSIFIED DRUG;

ARTICLE; BRAZIL; CASE REPORT; CODON; DNA DETERMINATION; ELECTROPHORESIS; EXON; FEMALE; GENE SEQUENCE; HEMOGLOBIN COLOGNE; HUMAN; HUMAN CELL; JAUNDICE; PRESCHOOL CHILD;

EID: 0031452889     PISSN: 01008455     EISSN: None     Source Type: Journal    
DOI: 10.1590/s0100-84551997000400030     Document Type: Article

References (15)

1. Carrell, R.W., Lehmann, H. and Hutchison, H.E. (1966). Haemoglobin Köln (β 98 Valine-Methionine): an unstable protein causing inclusion body anaemia. Nature 210: 915-916.
2. Dacie, J.V. and Lewis, S.M. (1984). Practical Haematology. Churchill Livingstone, Edinburg, New York.
3. Eisenger, J., Flores, J., Tyson, J.A. and Shohet, S.B. (1985). Fluorescent cytoplasm and Heinz bodies of hemoglobin Köln erythrocytes: evidence for intracellular heme catabolism. Blood 65: 886-893.
4. Fairbanks, V.F., Opfell, R.W. and Burgert Jr., E.O. (1969). Three families with unstable hemoglobinopathies (Köln, Olmsted and Santa Ana) causing hemolytic anemia with inclusion bodies and pigmenturia. Am. J. Med. 46: 344-359.
5. Harley, J.D. and Mauer, A.M. (1961). Studies on the formation of Heinz bodies. II. The nature and significance of Heinz bodies. Blood 17: 418-433.
6. Lolskin, G.B. and Miller, D.R. (1976). Heme synthesis in hereditary hemolytic anemias: decrease of δ-aminolevulinic synthetase in hemoglobin Köln disease. Pediat. Res. 10: 702-706.
7. Marengo-Rowe, A.J. (1965). Rapid electrophoresis and quantitation of haemoglobin on cellulose acetate. J. Clin. Pathol. 18: 790-792.
8. Miller, D.R., Weed, R.I., Stamatoyannopoulos, G. and Yoshida, A. (1971). Hemoglobin Köln disease occurring as a fresh mutation: erythrocyte metabolism and survival. Blood 38: 715-729.
9. 2 98 (FG5) Val-Met in Brazil. 5th International Conference on Thalassemias and the Haemoglobinopathies. Nicosia, Cyprus.
10. 2 98 (FG5) Val-Met in Brazil. Simpósio Nacional de Hemoglobinopatias. São José do Rio Preto, SP, Brasil.
11. Pedersen, P.R., McCurdy, P.R., Wrightstone, R.N., Wilson, J.B., Smith, L.L. and Huisman, T.H.J. (1973). Hemoglobin Köln in a black: pre- and post-splenectomy red cell survival (DF32P and 51Cr) and the pathogenesis of hemoglobin instability. Blood 42: 771-781.
12. Pembrey, M.E., MacWade, P. and Weatherall, D.J. (1972). Reliable routine stimulation of small amounts of foetal hemoglobin by alkali denaturation. J. Clin. Pathol. 25: 738-740.
13. Sambrook, J., Fritsch, E.F. and Maniatis, T. (1989). Molecular Cloning. Cold Spring Harbor Laboratories, New York.
14. Scott, J.L., Haut, A., Cartwright, G.E. and Wintrobe, M.M. (1960). Congenital hemolytic disease associated with red cell inclusion bodies, abnormal pigment metabolism and electrophoretic hemoglobin abnormality. Blood 16: 1239-1252.
15. Vaughan Jones, R., Grimes, A.J., Carrel, R.W. and Lehman, H. (1967). Köln haemoglobinopathy: further data and a comparison with other hereditary Heinz bodies anaemias. Brit. J. Haematol. 13: 394-408.