An α-thalassemia phenotype in a Dutch Hindustani, caused by a new point mutation that creates an alternative splice donor site in the first exon of the α2-globin gene

Hemoglobin

Volumn 28, Issue 3, 2004, Pages 255-259

  Harteveld, Cornelis L ^a   Wijermans, Pierre W ^b   Van Delft, Peter ^a   Rasp, Ellen ^b   Haak, Hans L ^b   Giordano, Piero C ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b LEYENBURG HOSPITAL   (Netherlands)

Author keywords

Globin gene; Nondeletional thalassemia (thal); Nonsense mediated decay (NMD); Premature termination; Splice donor site

Indexed keywords

ALPHA 2 GLOBULIN; MESSENGER RNA;

AGED; ALPHA THALASSEMIA; ARTICLE; CASE REPORT; CELL DEGENERATION; CODON; DONOR SITE; DOWNSTREAM PROCESSING; EXON; FEMALE; FERRITIN BLOOD LEVEL; GENE MUTATION; GLOBIN GENE; HUMAN; INTRON; IRON DEFICIENCY ANEMIA; MICROCYTOSIS; PHENOTYPE; SEQUENCE ANALYSIS;

AGED; ALPHA-THALASSEMIA; ANEMIA, HYPOCHROMIC; CODON, TERMINATOR; FEMALE; HUMANS; PEPTIDE CHAIN TERMINATION, TRANSLATIONAL; POINT MUTATION; RNA SPLICING; RNA STABILITY;

EID: 4544371125     PISSN: 03630269     EISSN: None     Source Type: Journal    
DOI: 10.1081/HEM-120040257     Document Type: Article

References (13)

1. Bernini LF, Harteveld CL. α-Thalassaemia. Bailliere's Clin Haematol 1998; 11(1):53-90.
2. + thalassaemia in two Dutch families. Br J Haematol 1996; 95(3):461-466.
3. Cürük MA, Baysal E, Gupta RB, Sharma S, Huisman THJ. An IVS-I-117 (G→A) acceptor splice site mutation in the α1-globin gene is a nondeletional α-thalassaemia-2 determinant in an Indian population. Br J Haematol 1993; 85(1):148-152.
4. Orkin SH, Goff SC, Hechtman RL. Mutation in an intervening sequence splice junction in man. Proc Natl Acad Sci U S A 1981; 78(8):5041-5045.
5. Harteveld CL, Beijer C, van Delft P, Zanardini R, Bernini LF, Giordano PC. α-Thalassaemia as a result of a novel splice donor site mutation of the α1-globin gene. Br J Haematol 2000; 110(3):694-698.
6. Giordano PC, van Delft P, Batelaan D, Harteveld CL, Bernini LF. Haemoglobinopathies analysis in The Netherlands: a report of an in vitro globin chains biosynthesis survey using a rapid modified method. Clin Lab Haematol 1999; 21(4):247-255.
7. Kattamis AC, Camaschella C, Sivera P, Surrey S, Fortina P. Human α-thalassemia syndromes: detection of molecular defects. Am J Hematol 1996; 53(2):81-91.
8. Reese MG, Eeckman FH, Kulp D, Haussler D. Improved splice site detection in Genie. J Comp Biol 1997; 4(3):311-323.
9. Thermann R, Neu-Yilik G, Deters A, Frede U, Wehr K, Hagemeier C, Hentze MW, Kulozik AE. Binary specification of nonsense codons by splicing and cytoplasmic translation. EMBO J 1998; 17(12):3484-3494.
10. Surdej P, Riedl A, Jacobs-Lorena M. Regulation of mRNA stability in development. Ann Rev Genet 1994; 28:263-282.
11. Frischmeyer PA, Dietz HC. Nonsense-mediated mRNA decay in health and disease. Hum Molec Genet 1999; 8(10):1893-1900.
12. Lykke-Andersen J, Shu MD, Steitz J. Human Upf proteins target an mRNA for nonsense-mediated decay when bound downstream of a termination codon. Cell 2000; 103(7):1121-1131.
13. Thein SL, Hesketh C, Taylor P, Temperley IJ, Hutchinson RM, Old JM, Wood WG, Clegg JB, Weatherall DJ. Molecular basis for dominantly inherited inclusion body β-thalassemia. Proc Natl Acad Sci U S A 1990; 87(10):3924-3928.