A novel β-thalassemic allele due to a two nucleotide deletion: β76 (-GC)

Hemoglobin

Volumn 31, Issue 1, 2007, Pages 31-37

  Foulon, Karine ^a   Rochette, Jacques ^a,b,c   Cadet, Estelle ^a  

^a AMIENS UNIVERSITY HOSPITAL   (France)

^b UNIVERSITÉ DE PICARDIE JULES VERNE   (France)

^c Faculté de Médecine   (France)

Author keywords

Globin gene; Thalassemia (thal); 76 ( GC); Frameshift; Stop codon

Indexed keywords

ALPHA GLOBIN; BETA GLOBIN; HEMOGLOBIN A2; HEMOGLOBIN F;

ADULT; ALLELE; ARTICLE; BETA THALASSEMIA; CELL MATURATION; DOMINANT GENE; ELECTROPHORESIS; ERYTHROCYTE; EXON; FRAMESHIFT MUTATION; GENE CLUSTER; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; HETEROZYGOTE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HUMAN CELL; MALE; MICROCYTIC ANEMIA; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; RETICULOCYTE; STOP CODON;

ADULT; AMINO ACID SEQUENCE; ANEMIA, HYPOCHROMIC; BASE SEQUENCE; BETA-THALASSEMIA; CODON, TERMINATOR; DNA MUTATIONAL ANALYSIS; FRAMESHIFT MUTATION; GENE DELETION; GLOBINS; HEMOGLOBIN A2; HUMANS; MALE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 33847029575     PISSN: 03630269     EISSN: 1532432X     Source Type: Journal    
DOI: 10.1080/03630260601057021     Document Type: Article

References (14)

1. Weatherall DJ, Clegg JB. The Thalassaemia Syndromes, 4th ed. Oxford: Blackwell Scientific Publications, 2001.
2. Pautard B, Feo C, Dhermy D, Wajcman H, Baudin-Chich V, Delobel J. Occurrence of hereditary spherocytosis and β thalassaemia in the same family: globin chain synthesis and visco diffractometric studies. Br J Haematol 1988; 70(2):239-245.
3. Hermann BG, Frischauf AM. Isolation of genomic DNA. In: Berger SL, Kimmel AR, Eds. Methods in Enzymology, Vol. 152. New York: Academic Press. 1987; 180-183.
4. anti-3.7 triplication by enzymatic amplification analysis. Br J Haematol 1993; 83(1):105-111.
5. Liu YT, Old JM, Miles K, Fisher CA, Weatherall DJ, Clegg JB. Rapid detection of α-thalassaemia deletions and α-globin gene triplication by multiplex polymerase chain reactions. Br J Haematol 2000; 108(2):295-299.
6. Hardison RC, Chui DH, Giardine B, Riemer C, Patrinos GP, Anagnou N, Miller W, Wajcman H. HbVar: a relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. Hum Mutat 2002; 19(3):225-233 (http://globin.cse.psu.edu).
7. Patrinos GP, Giardine B, Riemer C, Miller W, Chui DH, Anagnou NP, Wajcman H, Hardison RC. Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. Nucleic Acids Res 2004; 32(Database issue):D537-541 (http://globin.cse.psu.edu).
8. Rosatelli MC, Tuveri T, Scalas MT, Leoni GB, Sardu R, Faa V, Meloni A, Pischedda MA, Demurtas M, Monni G, Toffoli C, Cao A. Molecular screening and fetal diagnosis of β-thalassemia in the Italian population. Hum Genet 1992; 89(6):585-589.
9. Ho PJ, Hall GW, Luo LY, Weatherall DJ, Thein SL. Phenotypic prediction in β-thalassemia. Ann NY Acad Sci 1998; 30(850):436-441.
10. Maquat LE. Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics. Nat Rev Mol Cell Biol 2004; 5(2):89-99.
11. Thein SL, Rochette J. Disorders of hemoglobin structure and synthesis. In: Lameson JL, E. Principles of Molecular Medicine. Totowa: Humana Press. 1998; 79-190.
12. Thein SL. β-Thalassaemia. Bailliere's Clin Haematol 1998; 11(1):91-126.
13. Luo HY, Tang W, Eung SH, Coad JE, Canfield P, Keller F, Crowell EH Jr, Steinberg MH, Chui DHK. Dominantly inherited β thalassaemia intermedia caused by a new single nucleotide deletion in exon 2 of the β globin gene: Hb Morgantown (β91 CTG→CG). J Clin Pathol 2005; 58(10):1110-1112.
14. Kazazian HH Jr, Dowling CE, Hurwitz RL, Coleman M, Stopeck A, Adams JG III. Dominant thalassemia-like phenotypes associated with mutations in exon 3 of the β-globin gene. Blood 1992; 79(11):3014-3018.