Skip to main content
SpringerLink
Log in

Hemoglobin Constant Spring (Hb CS) Missed by HPLC in an Hb E Trait Pregnancy Resulting in Hb H-CS Disease in a Thai Girl: Utility of Capillary Electrophoresis

  • Case Report
  • Published:
Indian Journal of Hematology and Blood Transfusion Aims and scope Submit manuscript

Abstract

Hemoglobin Constant Spring [Hb CS; α142, Term→Gln (TAA>CAA IN α2)] is often missed by routine laboratory testing, especially in subjects with co-inheritance of β-thalassemia or β-variants. We reported the case of a 1-year-old female with Hb H-CS disease who was born from a father with heterozygous of α-thalassemia-1 Southeast Asian type deletion and a mother with the combination of Hb CS and Hb E [β26 (B8) Glu→Lys, GAG>AAG] trait. A very tiny peak of Hb CS of the mother was easily ignored on the high performance liquid chromatography chromatogram while it was clearly seen on the capillary electrophoresis (CE) electrophoregram. Therefore, the CE is useful in screening for heterozygous Hb CS in a person with Hb E trait. This is of potential benefit for prevention of new cases of Hb H-CS disease.

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

Fig. 1
Fig. 2
Fig. 3

References

  1. Fucharoen S, Winichagoon P (1987) Hemoglobinopathies in southeast Asia. Hemoglobin 11(1):65–88

    Article  CAS  PubMed  Google Scholar 

  2. Laig M, Pape M, Hundrieser J et al (1990) The distribution of the Hb constant spring gene in Southeast Asian populations. Hum Genet 84(2):188–190

    Article  CAS  PubMed  Google Scholar 

  3. Fucharoen S, Winichagoon P, Pootrakul P, Piankijagum A, Wasi P (1987) Differences between two types of Hb H disease, alpha-thalassemia 1/alpha-thalassemia 2 and alpha-thalassemia 1/Hb constant spring. Birth Defects Orig Artic Ser 23(5A):309–315

    CAS  PubMed  Google Scholar 

  4. Tan JA, Kok JL, Tan KL, Wee YC, George E (2009) Thalassemia intermedia in HbH-CS disease with compound heterozygosity for beta-thalassemia: challenges in hemoglobin analysis and clinical diagnosis. Genes Genet Syst 84(1):67–71

    Article  CAS  PubMed  Google Scholar 

  5. Tangvarasittichai O, Jeenapongsa R, Sitthiworanan C, Sanguansermsri T (2005) Laboratory investigations of Hb constant spring. Clin Lab Haematol 27(1):47–49

    Article  CAS  PubMed  Google Scholar 

  6. Hunt DM, Higgs DR, Winichagoon P, Clegg JB, Weatherall DJ (1982) Haemoglobin constant spring has an unstable alpha chain messenger RNA. Br J Haematol 51(3):405–413

    Article  CAS  PubMed  Google Scholar 

  7. Ne W, Harano K, Harano T et al (2008) Hb Constant Spring [alpha 142, Term–>Gln (TAA>CAA in alpha2)] in the alpha-thalassemia of anemic patients in Myanmar. Hemoglobin 32(5):454–461

    Article  Google Scholar 

  8. Singsanan S, Fucharoen G, Savongsy O, Sanchaisuriya K, Fucharoen S (2007) Molecular characterization and origins of Hb constant spring and Hb Pakse in Southeast Asian populations. Ann Hematol 86(9):665–669

    Article  CAS  PubMed  Google Scholar 

  9. Liao C, Zhou JY, Xie XM, Li J, Li R, Li DZ (2010) Detection of Hb constant spring by a capillary electrophoresis method. Hemoglobin 34(2):175–178

    Article  CAS  PubMed  Google Scholar 

  10. Panyasai S, Sukunthamala K, Pornprasert S (2010) Molecular confirmatory testing of hemoglobin Constant Spring by real-time polymerase chain reaction SYBR Green1 with high-resolution melting analysis. Eur J Haematol 84(6):550–552

    Article  PubMed  Google Scholar 

  11. Li YQ, Li R, Li DZ (2013) Detection of Hb Constant Spring [alpha142, Term–>Gln, TAA>CAA (alpha2)] in heterozygotes combined with beta-thalassemia. Hemoglobin 37(2):197–200

    Article  CAS  PubMed  Google Scholar 

  12. Pornprasert S, Phusua A, Suanta S, Saetung R, Sanguansermsri T (2008) Detection of alpha-thalassemia-1 Southeast Asian type using real-time gap-PCR with SYBR Green1 and high resolution melting analysis. Eur J Haematol 80(6):510–514

    Article  CAS  PubMed  Google Scholar 

  13. Pornprasert S, Punyamung M, Treesuwan K (2013) Criteria for detection of alpha-thalassemia-1 Thai type deletion in routine laboratory. Clin Lab 59(11–12):1423–1427

    CAS  PubMed  Google Scholar 

  14. Pornprasert S, Panyasai S, Waneesorn J, Kongthai K, Singboottra P (2012) Quantification of hemoglobin constant spring in heterozygote and homozygote by a capillary electrophoresis method. Int J Lab Hematol 34(2):143–147

    Article  CAS  PubMed  Google Scholar 

  15. Liao C, Zhou JY, Xie XM, Li DZ (2011) Screening for Hb constant spring in the Guangdong Province, South China, using the Sebia capillary electrophoresis system. Hemoglobin 35(1):87–90

    Article  CAS  PubMed  Google Scholar 

  16. Waneesorn J, Panyasai S, Kongthai K, Singboottra P, Pornprasert S (2011) Comparison between capillary electrophoresis and high performance liquid chromatography for detection and quantification of Hb constant spring [Hb CS; alpha142, Term–>Gln (TAA>CAA IN alpha2)]. Hemoglobin 35(4):338–345

    Article  CAS  PubMed  Google Scholar 

Download references

Acknowledgments

The authors thank technicians in the Associated Medical Sciences Clinical Service Center, Associated Medical Sciences, Chiang Mai University, Chiang Mai, Thailand for their help and assistance. We are also grateful to Roscoe C Butler Jr for editing the manuscript. This study was supported by Grants from the National Research Council of Thailand (NRCT).

Conflict of interest

The authors report no conflicts of interest.

Author information

Authors and Affiliations

  1. Department of Medical Technology, Faculty of Associated Medical Sciences, Chiang Mai University, 110 Intawaroros Road, Chiang Mai, 50200, Thailand

    Sakorn Pornprasert & Supansa Saoboontan

  2. Denchai Crown Prince Hospital, Den Chai, Phrae, Thailand

    Thanatcha Wiengkum

Authors
  1. Sakorn Pornprasert
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Supansa Saoboontan
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Thanatcha Wiengkum
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Sakorn Pornprasert.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Pornprasert, S., Saoboontan, S. & Wiengkum, T. Hemoglobin Constant Spring (Hb CS) Missed by HPLC in an Hb E Trait Pregnancy Resulting in Hb H-CS Disease in a Thai Girl: Utility of Capillary Electrophoresis. Indian J Hematol Blood Transfus 32 (Suppl 1), 254–257 (2016). https://doi.org/10.1007/s12288-015-0532-3

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12288-015-0532-3

Keywords

Search

Navigation