Phenotypic variability of Filipino β°-thalassemia/HbE patients in Indonesia

American Journal of Hematology

Volumn 62, Issue 1, 1999, Pages 7-12

  Setianingsih, Iswari ^a   Williamson, Robert ^c   Daud, Dasril ^b   Harahap, Alida ^a   Marzuki, Sangkot ^a   Forrest, Susan ^c  

^a Institute Molecular Eijkman   (Indonesia)

^b University of Hasanudin   (Indonesia)

^c NONE

Author keywords

Thalassemia HbE; Deletion; Phenotype genotype

Indexed keywords

ALPHA GLOBIN; BETA GLOBIN; DNA; GAMMA GLOBIN;

ADOLESCENT; ARTICLE; BETA THALASSEMIA; BLOOD TRANSFUSION; CASE REPORT; CHILD; GENE DELETION; GENETIC VARIABILITY; HAPLOTYPE; HETEROZYGOTE; HUMAN; INDONESIA; MALE; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

BETA-THALASSEMIA; CHILD; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; ELECTROPHORESIS, GEL, PULSED-FIELD; FEMALE; GLOBINS; HEMOGLOBIN E; HEMOGLOBINURIA; HETEROZYGOTE; HUMANS; INDONESIA; MALE; PEDIGREE; PHENOTYPE; PHILIPPINES; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PRENATAL DIAGNOSIS; SEQUENCE DELETION;

EID: 0032885234     PISSN: 03618609     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8652(199909)62:1<7::AID-AJH2>3.0.CO;2-S     Document Type: Article

References (31)

1. Weatherall DJ. The molecular basis for phenotypic diversity of genetic disease. Ann NY Acad Sci 1995;758:245-260.
2. Weatherall DJ. Hemoglobin E β-thalassemia: an increasingly common disease with some diagnostic pitfalls. J Pediatr 1998;132:765-767.
3. Cao A, Galanello R, Rosatelli MC, Genotype-phenotype correlations in β-thalassemias. Blood Rev 1994;8:1-12.
4. Weatherall DJ, Pressley L, Wood WG, Higgs DR, Clegg JB. Molecular basis for mild forms of homozygous β-thalassaemia. Lancet 1981; 1:527-529.
5. Thein SL, Wainscoat JS, Sampietro M, Old JM, Cappellini D, Fiorelli G, Modell B, Weatherall DJ. Association of thalassaemia intermedia with a β-globin gene haplotype. Br J Haematol 1987;65:367-373.
6. Thein SL, Hesketh C, Wallace RB, Weatherall DJ. The molecular basis of thalassaemia major and thalassaemia intermedia in Asian Indians: application to prenatal diagnosis. Br J Haematol 1988;70:225-231.
7. Winichagoon P, Thonglairoam V, Fucharoen S, Wilairat P, Fukumaki Y, Wasi P. Severity differences in β-thalassaemia/haemoglobin E syndromes: implication of genetic factors. Br J Haematol 1993;83:633-639.
8. Gilman JG, Huisman TH. DNA sequence variation associated with elevated fetal G γ globin production. Blood 1985;66:783-787.
9. Winichagoon P, Fucharoen S, Wilairat P, Chihara K, Fukumaki Y. Role of alternatively spliced β E-globin mRNA on clinical severity of β-thalassemia/hemoglobin E disease. Southeast Asian J Trop Med Public Health 1995;26(Suppl 1):241-245.
10. Motum PI, Kearney A, Hamilton TJ, Trent RJ. Filipino β zero thalassaemia: a high Hb A2 β zero thalassaemia resulting from a large deletion of the 5′ β globin gene region. J Med Genet 1993;30:240-244.
11. Eng B, Chui DH, Saunderson J, Olivieri NF, Waye JS. Identification of two novel β zero-thalassemia mutations in a Filipino family: frameshift codon 67 (-TG) and a β-globin gene deletion. Hum Mutat 1993; 2:375-379.
12. Dimovski AJ, Baysal E, Efremov DG, Prior JF, Raven JL, Efremov GD, Huisman TH. A large β-thalassemia deletion in a family of Indonesian-Malay descent. Hemoglobin 1996;20:377-392.
13. Waye JS, Eng B, Hunt JA, Chui DH. Filipino β-thalassemia due to a large deletion: identification of the deletion endpoints and polymerase chain reaction (PCR)-based diagnosis. Hum Genet 1994;94:530-532.
14. Dacie JV, Lewis SM. Investigation of abnormal haemoglobins and thalassaemia: practical haematology, 8th Edition. Edinburgh: Churchill-Livingstone, 1995. p 249-296.
15. Schneider RG, Charache S, Fairbank VF. Quantitative measurement of fetal hemoglobin using the alkaline denaturation method: improved guidelines, Volume 19, 1989. p. 943-956.
16. Kleihauer E, Kattamis C, Marti HR, Shibata S. Recommendations for fetal haemoglobin reference preparations and fetal haemogloblin determination by the alkali denaturation method. Br J Haematol 1979; 42:133-136.
17. Balnaves ME, Nasioulas S, Dahl HH, Forrest S. Direct PCR from CVS and blood lysates for detection of cystic fibrosis and Duchenne muscular dystrophy deletions [published erratum appears in Nucleic Acids Res 1991;19:2537]. Nucleic Acids Res 1991;19:1155.
18. Schwartz DC, Cantor CR. Separation of yeast chromosome-sized DNAs by pulsed field gradient gel electrophoresis. Cell 1984;37:67-75.
19. Varawalla NY, Old JM, Sarkar R, Venkatesan R, Weatherall DJ. The spectrum of β-thalassaemia mutations on the Indian subcontinent: the basis for prenatal diagnosis. Br J Haematol 1991;78:242-247.
20. Lie-Injo LE, Cai SP, Wahidijat I, Moeslichan S, Lim ML, Evangelista L, Doherty M, Kan YW. β-Thalassemia mutations in Indonesia and their linkage to β haplotypes. Am J Hum Genet 1989;45:971-975.
21. Kaufman RE, Kretschmer PJ, Adams JW, Coon HC, Anderson WF, Nienhuis AW. Cloning and characterization of DNA sequences surrounding the human γ-, δ-, and βglobin genes. Proc Natl Acad Sci USA 1980;77:4229-4233.
22. Lee JS. Alternative dideoxy sequencing of double-stranded DNA by cyclic reactions using Taq polymerase. DNA Cell Biol 1991;10:67-73.
23. Smith CL, Cantor CR. Purification, specific fragmentation, and separation of large DNA molecules. Methods Enzymol 1987;155:449-467.
24. Den Dunnen JT, van Ommen GJ. Methods for pulsed-field gel electrophoresis. Appl Biochem Biotechnol 1993;38:161-177.
25. Feinberg AP, Vogelstein B. A technique for radiolabeling DNA restriction en endonuclease fragments to high specific activity. Anal Biochem 1983;132:6-13.
26. Higgs DR. 1990 Mack Forster Prize lecture. The molecular genetics of the α globin gene family. Eur J Clin Invest 1990;20:340-347.
27. Sutton M, Bouhassira EE, Nagel RL. Polymerase chain reaction amplification applied to the determination of β-like globin gene cluster haplotypes. Am J Hematol 1989;32:66-69.
28. s chromosomes are associated with different levels of fetal globin in hemoglobin S homozygotes. Blood 1992;79: 813-819.
29. Ragusa A, Lombardo M, Beldjord C, Ruberto C, Lombardo T, Elion J, Nagel RL, Krishnamoorthy R. Genetic epidemiology of β-thalassemia in Sicily: do sequences 5′ to the G γ gene and 5′ to the β gene interact to enhance HbF expression in β-thalassemia? Am J Hematol 1992;40:199-206.
30. Ramus SJ, Forrest SM, Pitt DB, Saleeba JA, Cotton RG. Comparison of genotype and intellectual phenotype in untreated PKU patients. J Med Genet 1993;30:401-405.
31. Bykowsky MJ, Haire RN, Ohta Y, Tang H, Sung SS, Veksler ES, Greene JM, Fu SM, Litman GW, Sullivan KE. Discordant phenotype in siblings with X-linked agammaglobulinemia. Am J Hum Genet 1996;58:477-483.