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Diagnosis of Compound Heterozygous Hb Tak/β-Thalassemia and HbD-Punjab/β-Thalassemia by HbA2 Levels on Capillary Electrophoresis

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Abstract

A misdiagnosis of β-thalassemia carrier in samples with Hb Tak and HbD-Punjab, the β-variants, can be a cause of inappropriate genetic counseling thus having a new case of β-thalassemia major. A capillary electrophoresis (CE) is very efficient in separating and quantifying HbA2. In this study, HbA2 levels of samples which were doubted for compound heterozygous Hb Tak/β-thalassemia or heterozygous HbD-Punjab/β-thalassemia were measured and compared between CE and high performance liquid chromatography (HPLC). The molecular confirmation for Hb Tak, HbD-Punjab and β-thalassemia codons 17 (A > T), 41/42 (-TCTT), 71/72 (+A) and IVSI-nt1 (G > T) mutations and 3.4 kb deletion were also performed. Based on DNA analysis, 3 cases were diagnosed as compound heterozygous Hb Tak/β-thalassemia and one for HbD-Punjab/β-thalassemia. The elevated HbA2 levels were found in all 4 samples with rages of 4.6–7.3% on CE while those were not found on HPLC. Thus, the elevated HbA2 measured by CE can be used as a screening parameter for differentiating the homozygote of Hb Tak and HbD-Punjab from the compound heterozygote of these hemoglobinopathies and β-thalassemia.

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Acknowledgements

The authors thank technicians at 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 Kallayanee Rock for refinement of English language.

Funding

This work was supported by grants from the University of Phayao and the National Research University Project under Thailand’s Office of the Higher Education Commission, Thailand.

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Authors and Affiliations

  1. School of Allied Health Sciences, University of Phayao, Phayao, Thailand

    Sitthichai Panyasai

  2. Research Institute for Health Sciences, Chiang Mai University, Chiang Mai, Thailand

    Supachai Sakkhachornphop

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

    Sakorn Pornprasert

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  1. Sitthichai Panyasai
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  2. Supachai Sakkhachornphop
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Correspondence to Sakorn Pornprasert.

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Ethical Standard

This study was approved by the Institutional Review Board (IRB) of the University of Phayao, Phayao, Thailand (Ethical Approval Number HE5403010001).

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The informed consent was obtained from the subjects included in the study.

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Panyasai, S., Sakkhachornphop, S. & Pornprasert, S. Diagnosis of Compound Heterozygous Hb Tak/β-Thalassemia and HbD-Punjab/β-Thalassemia by HbA2 Levels on Capillary Electrophoresis. Indian J Hematol Blood Transfus 34, 110–114 (2018). https://doi.org/10.1007/s12288-017-0810-3

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  • DOI: https://doi.org/10.1007/s12288-017-0810-3

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