Beta-thalassaemia in indigenous Belgian families: Identification of a novel mutation

Human Genetics

Volumn 98, Issue 1, 1996, Pages 77-79

  Heusterspreute, Michel ^a   Derclaye, Isabelle ^a   Gala, Jean Luc ^c   Van Geet, Chris ^b   Ferrant, Augustin ^a   Malchaire, Yolande ^a   Thonnard, Joëlle ^a   Vaerman, Jean Luc ^a   Philippe, Marianne ^a  

^a UNIVERSITÉ CATHOLIQUE DE LOUVAIN   (Belgium)

^b UNIVERSITY OF LEUVEN   (Belgium)

^c NONE

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; BELGIUM; BETA THALASSEMIA; CLINICAL ARTICLE; CODON; DNA SEQUENCE; DOT HYBRIDIZATION; GENE AMPLIFICATION; GENE MUTATION; HUMAN; HUMAN CELL; OLIGONUCLEOTIDE PROBE; PRIORITY JOURNAL;

BELGIUM; BETA-THALASSEMIA; CODON; DNA PRIMERS; DNA PROBES; FEMALE; GENETIC SCREENING; GLOBINS; HAPLOTYPES; HETEROZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEIC ACID HYBRIDIZATION; PHENOTYPE; SEQUENCE DELETION;

EID: 0029905288     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050163     Document Type: Article

References (19)

1. Beris P, Darbellay R, Speiser D, Kirchner V, Miescher PA (1993) De novo initiation codon mutation (ATG→ACG) of the β-globin gene causing β-thalassemia in a Swiss family. Am J Hematol 42: 248-253
2. 0-thalassemia (IVS-II-850, G→A) mutation in a north European family. Hemoglobin 19: 207-211
3. De Caluwé JP, Van Risseghem C, Van Melsen A, Bondue H, Alexander M (1987) Beta-thalassémies mineures parmi la population belge. Acta Clin Belg 42: 336-341
4. Embury SH, Miller JA, Dozy AM, Kan YW, Chan V, Todd D (1980) Two different molecular organizations account for the single α-globin gene of the α-thalassemia-2 genotype. J Clin Invest 66: 1319-1325
5. Hall GW, Barnetson RA, Thein SL (1992) Beta thalassaemia in the indigenous British population. Br J Haematol 82: 584-588
6. Higgs DR, Old JM, Clegg JB, Pressley L, Hunt DM, Weatherall DJ, Serjeant GR (1979) Negro α-thalassaemia is caused by deletion of a single α-globin gene. Lancet II: 272-276
7. 0-thalassemia (frameshift codons 38/39; -C) and a nondeletional Swiss type of HPFH (A→C at nt -110, Gγ) in a Czechoslovakian family. Ann Hematol 63: 111-115
8. Jankovic L, Efremov GD, Josifovska O, Juricic D, Stoming TA, Kutlar A Huisman TJH (1990) An initiation codon mutation as a cause of a β-thalassemia. Hemoglobin 14: 169-176
9. Kazazian HH Jr, Boehm CD (1988) Molecular basis and prenatal diagnosis of β-thalassemia. Blood 72: 1107-1116
10. Laig M, Pape M, Hundrieser J, Flatz G (1990) Mediterranean types of β-thalassemia in the German population. Hum Genet 85: 135-137
11. C using oligodeoxynucleotide hybridization probes. Gene 43: 23-28
12. Orkin SH, Kazazian HH Jr, Antonarakis SE, Goff SC, Boehm CD, Sexton JP, Waber PG, Giardina PJV (1982) Linkage of β-thalassemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster. Nature 296: 627-631
13. Sambrook J, Fritsch EF, Maniatis T (1989) Molecular cloning: a lahoratory manual, 2nd edn. Cold Spring Harbor Laboratory, Cold Spring Harbor, NY
14. Schnee J, Griese EU, Eigel A, Horst J (1989) β-Thalassemia gene analysis in a Turkish family reveals a 7 bp deletion in the coding region. Blood 73: 2224-2225
15. Sutton M, Bouhassira EE, Nagel RL (1989) Polymerase chain reaction amplification applied to the determination of β-like globin gene cluster haplotypes. Am J Hematol 32: 66-69
16. The β and δ Thalassemia Repository (1995) The β and δ Thalassemia Repository. Eighth edition. Hemoglobin 19: 213-236
17. 0-Thalassemia in Sardinia is caused by a nonsense mutation. J Clin Invest 68: 1012-1017
18. Thein SL, Hinton J (1991) A simple and rapid method of direct sequencing using Dynabeads. Br J Haematol 79: 113-115
19. Wildmann C, Larondelle Y, Vaerman JL, Eeckels R, Martiat P, Philippe M (1993) An initiation codon mutation as a cause of β-thalassemia in a Belgian family. Hemoglobin 17: 19-30