Skip to main content
SpringerLink
Log in

PCR-Based Analysis of α-Thalassemia in Southern Taiwan

  • Special Report
  • Published:
International Journal of Hematology Aims and scope Submit manuscript

Abstract

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.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Weatherall DJ. The thalassemias.BMJ. 1997;314:1675–1678.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  2. Weatherall DJ.The Thalassemia Syndrome. Oxford, England: Blackwell; 1981.

    Google Scholar 

  3. Bunn HF, Forget BG.Hemoglobin: Molecular, Genetic, and Clinical Aspects. Philadelphia, Pa: WB Saunders; 1986.

    Google Scholar 

  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.

    CAS  PubMed  Google Scholar 

  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.

    Article  CAS  PubMed  Google Scholar 

  6. Chang JG, Liu HJ. Molecular diagnosis of thalassemia in Taiwan.Kaohsiung J Med Sci. 1995;11:371–378.

    CAS  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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.

    CAS  Google Scholar 

  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.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  10. Zeng YT, Huang SZ. α-Globin gene organization and prenatal diagnosis of α-thalassemia in Chinese.Lancet. 1985;1(8424):304–307.

    Article  PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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.

    PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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.

    PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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.

    PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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.

    CAS  Google Scholar 

  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.

    PubMed  CAS  Google Scholar 

  26. Zaino EC, Yang TY. Hemoglobinopathy and thalassemia in China.N Engl J Med. 1981;305:766.

    PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Division of Hematology-Oncology, Department of Internal Medicine, Kaohsiung Medical University Hospital, Kaohsiung

    Tyen-Po Chen, Ta-Chih Liu, Chao-Sung Chang, Hui-Jen Tsai & Sheng-Fung Lin

  2. Department of Laboratory Medicine, China Medical College Hospital, Taichung, Taiwan

    Jang-Gowth Chang

Authors
  1. Tyen-Po Chen
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Ta-Chih Liu
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Chao-Sung Chang
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Jang-Gowth Chang
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Hui-Jen Tsai
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Sheng-Fung Lin
    View author publications

    You can also search for this author in PubMed Google Scholar

About this article

Cite this article

Chen, TP., Liu, TC., Chang, CS. et al. PCR-Based Analysis of α-Thalassemia in Southern Taiwan. Int J Hematol 75, 277–280 (2002). https://doi.org/10.1007/BF02982041

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF02982041

Key words

Search

Navigation