Rapid detection of the common Mediterranean α-globin deletions/rearrangements using PCR

American Journal of Hematology

Volumn 58, Issue 4, 1998, Pages 306-310

  Oron Karni, Varda ^a   Filon, Dvora ^b   Oppenheim, Ariella ^a   Rund, Deborah ^a,b  

^a HEBREW UNIVERSITY   (Israel)

^b HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

thalassemia; Carrier screening; Multiplex PCR; Population screening; Thalassemia intermedia

Indexed keywords

ALPHA GLOBIN; DNA; PRIMER DNA;

ALPHA THALASSEMIA; ARTICLE; GENE DELETION; GENE REARRANGEMENT; GENOTYPE; HUMAN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCREENING; SOUTHERN BLOTTING;

ALLELES; ALPHA-THALASSEMIA; DNA PRIMERS; GENE AMPLIFICATION; GENE DELETION; GENE REARRANGEMENT; GENETIC SCREENING; GENOTYPE; GLOBINS; HETEROZYGOTE; HUMANS; MEDITERRANEAN REGION; POLYMERASE CHAIN REACTION;

EID: 0031815437     PISSN: 03618609     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8652(199808)58:4<306::AID-AJH10>3.0.CO;2-5     Document Type: Article

References (20)

1. Higgs DR, Vickers MA, Wilkie AO, Pretorius IM, Jarman AP, Weatherall DJ: A review of the molecular genetics of the human α-globin gene cluster. Blood 73:1081-104, 1989.
2. Higgs DR: α-Thalassaemia. Baillieres Clin Haematol 6:117-150, 1993.
3. o-thalassemia interaction. Blood 62:226-229, 1983.
4. Sampietro M, Cazzola M, Cappellini MD, Fiorelli G: The triplicated alpha-gene locus and heterozygous beta thalassaemia: A case of thalassaemia intermedia. Br J Haematol 55:709-710, 1983.
5. Thein SL, Al HI, Hoffbrand AV: Thalassaemia intermedia: A new molecular basis. Br J Haematol 56:333-337, 1984.
6. o-thalassemia with single functional α-globin gene. Am J Hematol 29:63-66, 1988.
7. o-thalassemia. Br J Haematol 86: 377-379, 1994.
8. Weatherall DJ, Clegg JB: The Thalassemia Syndromes, Ed 3. Oxford: Blackwell Scientific Publications, 1981.
9. Wainscoat J, Kanavis E, Wood W, Letsky E, Huehns E, Marsh G, Higgs D, Clegg J, Weatherall D: Thalassemia intermedia in Cyprus: The interaction of alpha and beta thalassemia. Br J Haematol 53:411-416, 1983.
10. Wainscoat JS, Old JM, Weatherall DJ: The molecular basis for the diversity of beta-thalassemia in Cypriots. Lancet ii:1235-1237, 1983.
11. Lauer J, Shen CK, Maniatis T: The chromosomal arrangement of human alpha-like globin genes: Sequence homology and alpha-globin gene deletions. Cell 20:119-130, 1980.
12. Goossens M, Kan YW: DNA analysis in the diagnosis of hemoglobin disorders. Methods Enzymol 76:805-817, 1981.
13. Bowden DK, Vickers MA, Higgs DR: A PCR-based strategy to detect the common severe determinants of alpha thalassaemia. Br J Haematol 81:104-108, 1992.
14. anti3.7 triplication by enzymatic amplification analysis. Br J Haematol 83:105-111, 1993.
15. Baysal E, Huisman THJ: Detection of common deletional α thalassemia-2 determinants by PCR. Am J Hematol 46:208-213, 1994.
16. Bowie LJ, Reddy PL, Nagabhushan M, Sevigny P: Detection of α-thalassemia by multiplex polymerase chain reaction. Clin Chem 40: 2260-2266, 1994.
17. Smetanina NS, Huisman THJ: Detection of α-thalassemia-2 (-3.7 kb) and its corresponding triplication ααα (anti-3.7 kb) by PCR: An improved technical change. Am J Hematol 53:202-203, 1996.
18. Kattamis AC, Camaschella C, Sivera P, Surrey S, Fortina P: Human α-thalassemia syndromes: Detection of molecular defects. Am J Hematol 53:81-91, 1996.
19. Nicholls RD, Fischel GN, Higgs DR: Recombination at the human alpha-globin gene cluster: Sequence features and topological constraints. Cell 49:369-378, 1987.
20. 4.2 deletion of α-thalassemia-2 by polymerase chain reaction. Ann Hematol 69:205-209, 1994.