Effect of α-gene numbers on the expression of β-thalassemia intermedia, β-thalassemia and (δβ)0-thalassemia traits

Human Heredity

Volumn 48, Issue 3, 1998, Pages 121-125

  Altay, C ^a,b   Oner C ^b   Oner R ^b   Gumruk F ^a   Mergen, H ^b   Gurgey A ^a  

^a Ihsan Dogramaci Children's Hospital   (Turkey)

^b HACETTEPE UNIVERSITY   (Turkey)

Author keywords

gene triplication; thalassemia; thalassemia intermedia; thalassemia trait; thalassemia trait

Indexed keywords

HEMOGLOBIN F;

ADULT; ALPHA THALASSEMIA; ARTICLE; BETA THALASSEMIA; CLINICAL ARTICLE; DISEASE SEVERITY; FEMALE; GENE MUTATION; GENE NUMBER; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; MALE; PHENOTYPE;

ADOLESCENT; ADULT; ALPHA-THALASSEMIA; BETA-THALASSEMIA; FEMALE; GENE DOSAGE; GENE EXPRESSION REGULATION; HETEROZYGOTE DETECTION; HOMOZYGOTE; HUMANS; MALE; PHENOTYPE; QUANTITATIVE TRAIT, HERITABLE;

EID: 0031943287     PISSN: 00015652     EISSN: None     Source Type: Journal    
DOI: 10.1159/000022792     Document Type: Article

References (25)

1. Weatherall DJ, Clegg JB: The Thalassemia Syndromes. Oxford, Blackwell Scientific Publications, 1981.
2. Wainscoat JS, Kanavakis E, Wood WG, Letsky EA, Huehns ER, Marsh GW, Higgs DR, Clegg JB, Weatherall DJ: Thalassemia intermedia in Cyprus: The interaction of alpha and beta thalassemia. Br J Haematol 1983;53:411-416.
3. 0-thalassemia intermedia in Sardinia. Biood 1989;74:823-827.
4. Kanavakis E, Metaxotou-Mavromatt A, Kattamis C, Wainscoat JS, Wood WG: The triplicated a gene locus and β-thalassemia. Br J Haematol 1983;54:201-207.
5. Kulozik AE, Thein SL, Wainscoat JS, Gale R, Kay LA, Wood JK, Weatherall DJ, Huehns ER: Thalassemia intermedia. Interaction of the triple α-globin gene arrangement and heterozygous β-thalassemia. Br J Haematol 1987;66:109-112.
6. Traeger-Synodinos J, Kanavakis E, Vrettou C, Maragoudaki E, Michael T, Metaxotou-Mavromati A, Kattamis C: The triplicated α-globin gene locus in β-thalassemia heterozygotes: Clinical, haematological, biosynthetic and molecular studies. Br J Haematol 1996;95:467-471.
7. Them SL, Al-Hakim I, Hoffbrand AV: Thalassemia intermedia: A new molecular basis. Br J Haematol 1984;56:333-337.
8. 0-thalassemia and triplicated alpha globin loci in a Swiss-Spanish family. Klin Wochenschr 1991;69:710-714.
9. Sampietro M, Cazzola M, Cappelini MD, Fiorelli G: The triplicated alpha gene locus and heterozygous beta thalassemia: A case of thalassemia intermedia. Br J Haematol 1983;55:709-710.
10. Altay Ç, Basak AN: Molecular basis and prenatal diagnosis of hemoglobinopathies in Turkey. Int J Pediatr Hematol Oncol 1995;2:283-290.
11. Rund D, Oron-Karni V, Filon D, Goldfarb A, Rachmilewitz E, Oppenheim A: Genetic analysis of β-thalassemia intermedia in Israel: Diversity of mechanisms and unpredictability of phenotype. Am J Hematol 1997;54:16-22.
12. 0-thalassemia. Br J Haematol 1994; 86:377-379.
13. Chan V, Chan TK, Cheng MY, Kan YW, Todd D: Organization of the ζ-α genes in Chinese, Br J Haematol 1986;64:97-105.
14. Goossens M, Dozy AM, Embury SH, Zachariades Z, Hadjiminas MG, Stamatoyannopoulos G, Kan YW: Triplicated alpha-globin loci in humans. Proc Natl Acad Sci USA 1980;77:518-521,
15. Betke K, Marti HR, Schlicht T: Estimation of small percentages of foetal haemoglobin. Nature 1959;184: 1877.
16. Huisman THJ, Jonxis JHP: The Hemoglobinopathies: Techniques of Idenficiation, Clinical and Biochemical Analysis, vol 6. New York, Marcel Dekker.
17. Kutlar F, Kutlar A, Huisman THJ: Separation of normal and abnormal hemoglobin chains by reversed-phase high performance liquid chromatography. J Chromatogr 1986; 357:147-153.
18. Poncz M, Solowiejczyk D, Harpel B, Mory Y, Schwartz E, Surrey S: Construction of human gene libraries from small amounts of peripheral blood: Analysis of β-like globin genes. Hemoglobin 1982;6:27-36.
19. Southern EM: Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 1975;98:503-517.
20. Öner C, Öner R, Gürgey A, Altay Ç: A new Turkish type of β-thalassemia major with homozygosity for two non-consecutive 7.6 kb deletions of the ψβ and β genes and an intact ζ gene. Br J Haematol 1995;89:306-312.
21. Sanger F, Nicklen S, Coulson AR; DNA sequencing with chain terminating inhibitors. Proc Natl Acad Sci USA 1977;74:5463-5467.
22. Öner R, Öner C, Wilson JB, Tamagnini GP, Riberio LML, Huisman THJ: Dominant β-thalassemia trait in a Portuguese family is caused by a deletion of (G) TGGCTGGTGT (G) and an insertion of (G) GCAG (G) in codons 134, 135, 136 and 137 of the β-globin gene. Br J Haematol 1991;79:306-310.
23. +-Thalassemia Portuguese type: Clinical, hematological and molecular studies of a newly defined form of β-thalassemia. Br J Haematol 1983;54:189-200.
24. Gürgey A, Altay Ç, Diaz-Chico JC, Kutlar F, Huisman THJ: Molecular heterogeneity of β-thalassemia intermedia in Turkey. Acta Haematol 1989;81:22-27.
25. Altay Ç, Gravely ME, Joseph BR, Williams DF: Alpha-thalassemia-2 and the variability of hematological values in children with sickle cell anemia. Pediatr Res 1981;15.1093-1096.