Hb Nijkerk: A new mutation at codons 138/139 of the β-globin gene inducing severe hemolytic anemia in a Dutch girl

Hemoglobin

Volumn 23, Issue 2, 1999, Pages 135-144

  Van Den Berg, H M ^a,b   Bruin, M C A ^a   Batelan, D ^c   Van Delft, P ^c   Van Zwieten, R ^d   Roos, D ^d   Harteveld, C L ^c   Bernini, L F ^c   Giordano, Piero C ^c  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^d CENTRAL LABORATORY   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GLOBIN; HEMOGLOBIN VARIANT;

ADOLESCENT; ARTICLE; CASE REPORT; FEMALE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; HEMOGLOBIN DETERMINATION; HEMOGLOBINOPATHY; HEMOLYTIC ANEMIA; HETEROZYGOSITY; HUMAN; NETHERLANDS;

EID: 0032914335     PISSN: 03630269     EISSN: None     Source Type: Journal    
DOI: 10.3109/03630269908996158     Document Type: Article

References (19)

1. Giordano, P.C.: Decision making in postnatal hematological analysis of hemoglobinopathies. In: Hemoglobinopathies and Today Genetics, edited by G.J. van Ommen, R. Fodde, P.C. Giordano, and M. Losekoot, Boerhaave Edition, pages 29-40, Leiden, The Netherlands, 1994.
2. Smithies, O.: Characterization of genetic variants of blood proteins. Vox Sang, 10:359-369, 1965.
3. 2 by DEAE chromatography. Biochem. Genet., 2:305-310, 1969.
4. Betke, K., Marti, H.R., and Schlicht, I.: Estimation of small percentages of foetal haemoglobin. Nature, 184:1877-1878, 1959.
5. Giordano, P.C., Harteveld, C.L., Michiels, J.J., Terpstra, W., Schelfhout, L.J.D.M., Appel, I.M., Batelaan, D., van Delft, P., Plug, R., and Bernini, L.F.: Phenotype variability of the dominant β-thalassemia induced in four Dutch families by the rare cd 121 (G→T). Mutation Ann. Haematol., in press.
6. Carrell, R.W. and Kay, R.: A simple method for the detection of unstable haemoglobins. Br. J. Haematol., 23:615-619, 1972.
7. Giordano, P.C., van Delft, P., Batelaan, D., Harteveld, C.L. and Bernini, L.F.: Haemoglobinopathies analyses in The Netherlands: a report of an in vitro globin chain biosynthesis survey using a rapid modified method. Clin. Lab. Haematol., in press.
8. Weening, R.S., Roos, D., and Loos, J.A.: Oxygen consumption of phagocytising cells in human leucocyte and granulocyte preparations: a comparative study. J. Lab. Clin. Med., 83:570-574, 1974.
9. Miller, S. A., Dykes, D.D., and Polesky, H.F.: A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res., 16:1215, 1988.
10. Losekoot, M., Fodde, R., Harteveld, C.L., van Heeren, H., Giordano, P.C., and Bernini, L.F.: Denaturing gradient gel electrophoresis and direct sequencing of PCR amplified genomic DNA: a rapid and reliable diagnostic approach to β-thalassemia. Br. J. Haematol., 76:269-274, 1990.
11. Sanger, F., Nicklen, S., and Coulson, A.R.: DNA sequencing with chain terminating inhibitors. Proc. Nat. Acad. Sci. USA, 74:5463-5467, 1977.
12. Hultman, T., Stœhl, S., Hornes, E., and Uhlin, M.: Direct solid phase sequencing of genomic and plasmid DNA using magnetic beads as solid support. Nucleic Acids Res., 17:4937-4946, 1989.
13. Giordano, P.C., Fodde, R., Losekoot, M., and Bernini, L.F.: Design of a programmable automatic apparatus for the DNA polymerase chain reaction. Technique, 1:16-20, 1989.
14. Harteveld, C.L., Losekoot, M., Haak, H.L., Heister, A.J.G.A.M., Giordano, P.C., and Bernini, L.F.: A novel polyadenylation signal mutation in the α2-globin gene causing α-thalassaemia. Br. J. Haematol., 87:139-143, 1994.
15. Harteveld, C.L., Heister, A.G.J.A.M., Giordano, P.C., Losekoot, M., and Bernini, L.F.: Rapid detection of point mutations and polymorphisms of the α-globin genes by DGGE and SSCA. Human Mutation, 7:114-122, 1996.
16. Giordano, P.C., Harteveld, C.L., Heister, A.G.J.G.M., Batelaan, D., van Delft, P., Plug, R., Losekoot, M., and Bernini, L.F.: The molecular spectrum of β-thalassemia and abnormal hemoglobins in the allochthonous and autochthonous Dutch population. Commun. Genet., in press.
17. Losekoot, M., Fodde, R., Giordano, P.C., and Bernini, L.F.: A novel δ°-thalassemia arising from a frameshift insertion, detected by direct sequencing of enzymatically amplified DNA. Hum. Genet., 83:75-78, 1989.
18. Trinh, T.Q. and Sinden, R.R.: The influence of primary and secondary DNA structure in deletion and duplication between direct repeats in Escherichia coli. Genetics, 134:409-422, 1993.
19. WajcmanH.: Hemoglobin disorders due to short deletions or additions of nucleotides. Oral presentation, 6th International Conference on Thalassaemia and the Haemoglobinopathies, Malta, 1997.