International Journal of Hematology

, Volume 75, Issue 3, pp 277–280 | Cite as

PCR-Based Analysis of α-Thalassemia in Southern Taiwan

  • Tyen-Po Chen
  • Ta-Chih Liu
  • Chao-Sung Chang
  • Jang-Gowth Chang
  • Hui-Jen Tsai
  • Sheng-Fung Lin
Special Report


The Southeast Asia type deletion of α-thalassemia-1 (-- sea ) is the most common type of α-thalassemia-1 in Taiwan. There are 2 less common types, Filipino type (-- fil ) and Thai type (-- thai ). In the current study, we screened 754 cases of α-thalassemia-1 in Southern Taiwan using a polymerase chain reaction (PCR)-based method. Our results show that the prevalence of the (-- sea ) type is 90.6%, followed by the (-- fil ) type (8.6%), the (-- thai ) type (0.5%), and the (-α3.7/-α3.7) type (0.3%). We also analyzed the genotypes of 96 patients with hemoglobin (Hb) H disease and 48 cases of hydrops fetalis with Hb Bart’s. The frequencies of the genotypes of the α-thalassemia-1 allele in Hb H disease are in accordance with the results of analyses of α-thalassemia-1 cases. The α-thalassemia-2 allele includes -α3.7, -α4.2,-αG, αCSα, and αQSα. Forty-one cases, 6 cases, and 1 case of hydrops fetalis with Hb Bart’s were caused by -- sea /-- sea , -- sea /-- fil , and-- sea /-- thai , respectively. The genotypes and frequencies of α-thalassemia in this study are different from those in previous studies in Taiwan and Hong Kong. These differences may be attributed to the diverse genetic origin among different ethnic groups and the extensive inclusion of the (-- fil ) and (-- thai ) α-thalassemia-1 types.

Key words

α-Thalassemia PCR-based detection Southern Taiwan 


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    Weatherall DJ. The thalassemias.BMJ. 1997;314:1675–1678.CrossRefPubMedPubMedCentralGoogle Scholar
  2. 2.
    Weatherall DJ.The Thalassemia Syndrome. Oxford, England: Blackwell; 1981.Google Scholar
  3. 3.
    Bunn HF, Forget BG.Hemoglobin: Molecular, Genetic, and Clinical Aspects. Philadelphia, Pa: WB Saunders; 1986.Google Scholar
  4. 4.
    Higgs DR, Vickers MA, Wilkie AOM, Pretorious IM, Jarman AP Weatherall DJ. A review of the molecular genetics of the human α-globin gene cluster.Blood. 1989;73:1081–1104.Google Scholar
  5. 5.
    Kattamis AC, Camaschella C, Sivera P, Surrey S, Fortina P. Human a-thalassemia syndromes: detection of molecular defects.Am J Hematol. 1996;53:81–91.CrossRefGoogle Scholar
  6. 6.
    Chang JG, Liu HJ. Molecular diagnosis of thalassemia in Taiwan.Kaohsiung J Med Sci. 1995;11:371–378.Google Scholar
  7. 7.
    Liu TC, Chiou SS, Lin SF, et al. Molecular basis and hematological characterization of Hb H disease in Southeast Asia.Am J Hematol. 1994;45:293–297.CrossRefPubMedGoogle Scholar
  8. 8.
    Ko TM, Hsieh FJ, Chen CJ, Hsu PM, Lee TY. Cord blood screening for α-thalassemia in northern Taiwan.J Formos Med Assoc. 1988;87:146–149.Google Scholar
  9. 9.
    Embury SH, Lebo RV, Dozy AM, Kan YW. Organization of the α-globin genes in the Chinese a-thalassemia syndromes.J Clin Invest. 1979;63:1307–1310.CrossRefPubMedPubMedCentralGoogle Scholar
  10. 10.
    Zeng YT, Huang SZ. α-Globin gene organization and prenatal diagnosis of α-thalassemia in Chinese.Lancet. 1985;1(8424):304–307.CrossRefPubMedGoogle Scholar
  11. 11.
    Fischel-Ghodsian N, Vickers MA, Seip M, Winichagoon P, Higgs DR. Characterization of two deletions that remove the entire human zeta-alpha globin gene complex (--THAI and --FIL).Br J Haematol. 1988;70:233–238.CrossRefPubMedGoogle Scholar
  12. 12.
    Ko TM, Tseng LH, Kao CH, et al. Molecular characterization and PCR diagnosis of Thailand deletion of α-globin gene cluster.Am J Hematol. 1998;57:124–130.CrossRefPubMedGoogle Scholar
  13. 13.
    Eng B, Patterson M, Borys S, Chui DHK, Waye JS. PCR-based diagnosis of the Filipino and Thai α-thalassemia-1 deletions.Am J Hematol. 2000;63:54–56.CrossRefPubMedGoogle Scholar
  14. 14.
    Chang JG, Lee LS, Lin CP, Chen PH, Chen CP. Rapid diagnosis of alpha-thalassemia-1 of Southeast Asia type and hydrops fetalis by polymerase chain reaction.Blood. 1991;78:853–854.PubMedGoogle Scholar
  15. 15.
    Ko TM, Chen TA, Hsieh MI, et al. Alpha-thalassemia in the four major aboriginal groups in Taiwan.Hum Genet. 1993;92:79–80.CrossRefPubMedGoogle Scholar
  16. 16.
    Chang JG, Liu TC, Perng LI, et al. Rapid molecular characterization of Hb H disease in Chinese by polymerase chain reaction.Ann Hematol. 1994;68:33–37.CrossRefPubMedGoogle Scholar
  17. 17.
    Chen TP, Lin SF, Chang JG, Tsao CJ, Chiou SS, Liu HW. Molecular characterization of Hb H disease by polymerase chain reaction.Acta Haematol. 1993;90:177–181.CrossRefPubMedGoogle Scholar
  18. 18.
    Chen FE, Ooi C, Ha SY, et al. Genetic and clinical features of hemoglobin H disease in Chinese patients.N Engl J Med. 2000;343:544–550.CrossRefPubMedGoogle Scholar
  19. 19.
    Chang JG, Liu TC, Chiou SS, Chen JT, Chen TP, Lin CP. Rapid detection of -α4.2 deletion of α-thalassemia-2 by polymerase chain reaction.Ann Hematol. 1994;69:205–209.CrossRefPubMedPubMedCentralGoogle Scholar
  20. 20.
    Chang JG, Tseng WP, Yang LH, Lee LS, Chen PH, Liu TC. Rapid diagnosis of hemoglobin constant spring and hemoglobin E by amplified created restriction sites.Blood. 1993;81:565–566.PubMedGoogle Scholar
  21. 21.
    Liu TC, Ten JS, Shen JS, et al. Rapid molecular diagnosis of hemoglobin variants by RT-PCR of reticulocyte mRNA and direct sequencing.Hemoglobin. 1992;16:379–388.CrossRefPubMedGoogle Scholar
  22. 22.
    Chang JG, Chen CP, Ho HJ, Lin CP, Lee LS, Chen PH. Rapid prenatal diagnosis of Hb Bart’s hydrops fetalis in southeast Asia area by polymerase chain reaction.Int J Hematol. 1992;56:155–159.PubMedGoogle Scholar
  23. 23.
    Liu TC, Lin SF, Yang TY, Lee JP, Chen TP, Chang JG. Prenatal diagnosis of thalassemia in the Chinese.Am J Hematol. 1997;55:65–68.CrossRefPubMedGoogle Scholar
  24. 24.
    Chen TP, Liu TC, Chang JG, et al. Clonal analysis in acute myeloid leukemia by polymerase chain reaction.Kaohsiung J Med Sci. 1995;11:191–196.Google Scholar
  25. 25.
    Chang JG, Chen PH, Chiou SS, Lee LS, Perng LI, Liu TC. Rapid diagnosis of β-thalassemia mutations in Chinese by naturally and amplified created restriction sites.Blood. 1992;80:2092–2096.PubMedGoogle Scholar
  26. 26.
    Zaino EC, Yang TY. Hemoglobinopathy and thalassemia in China.N Engl J Med. 1981;305:766.PubMedGoogle Scholar

Copyright information

© The Japanese Society of Hematology 2002

Authors and Affiliations

  • Tyen-Po Chen
    • 1
  • Ta-Chih Liu
    • 1
  • Chao-Sung Chang
    • 1
  • Jang-Gowth Chang
    • 2
  • Hui-Jen Tsai
    • 1
  • Sheng-Fung Lin
    • 1
  1. 1.Division of Hematology-Oncology, Department of Internal MedicineKaohsiung Medical University HospitalKaohsiung
  2. 2.Department of Laboratory MedicineChina Medical College HospitalTaichungTaiwan

Personalised recommendations