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Problems in determining thalassemia carrier status in a program for prevention and control of severe thalassemia syndromes: a lesson from Thailand

  • Vip Viprakasit EMAIL logo , Chanin Limwongse , Sathein Sukpanichnant , Pornpimol Ruangvutilert , Chompunut Kanjanakorn , Waraporn Glomglao , Monchan Sirikong , Witayakarn Utto and Voravarn S. Tanphaichitr
Published/Copyright: March 23, 2013
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Clinical Chemistry and Laboratory Medicine (CCLM)
From the journal Clinical Chemistry and Laboratory Medicine (CCLM) Volume 51 Issue 8

Abstract

Background: Prevention and control of severe β thalassemia by carrier detection and identification of couples at risk in developed countries is one of the most successful stories in modern medicine. Similar programs in developing countries especially Southeast Asia, are more problematic because both α and β thalassemias are highly prevalent. In Thailand, there are limited data on whether we could determine, based on hematological phenotypes, the mutation severity and/or coinheritance of α thalassemia in β thalassemia traits.

Methods: Comprehensive molecular, hematology and hemoglobin analyses of the α and β globin genes were performed in 141 healthy individuals identified as β thalassemia carriers.

Results: Seventeen different β globin mutations were successfully identified out of all cases analyzed. Although the majority of the mutations identified were the β0 or severe β+ thalassemia alleles, a high proportion of mild mutations (25%) was observed. Of these β thalassemia traits, 22.3% were found to co-inherit the α thalassemias. Milder hematological phenotypes were noted in β+ compared with β0 thalassemia traits when the α globin genes were intact. Although co-inheritance of α0 thalassemia might be suspected in cases with skewed profiles, due to the overlapping values, it remains difficult to apply these parameters for reliable carrier determination.

Conclusions: A combination of hemoglobin analysis and DNA testing seems to be the best way to confirm carrier status in a region with high frequency for both α and β thalassemias. Underdiagnoses of carrier status could hamper the effectiveness of a thalassemia prevention and control program.

Keywords: α and β thalassemia mutations; double heterozygote for α and β thalassemia; hemoglobin electrophoresis; red blood cell parameters
Corresponding author: Dr. Vip Viprakasit, MD, D.Phil. (Oxon) Faculty of Medicine, Department of Pediatrics and Thalassemia Center, Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand, Phone: +66-2-4122113, Fax: +66-2-4122113

This research was supported by a Siriraj Grant for Research Development and Medical Education, the Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, National Research University grant and Thailand Research Fund (V.V.). C.L. is supported the Thailand Research Council and Mahidol University. We are grateful to Dr. David Garrick for his critical comments on the manuscript. We thank Kornphet Kumpornsin, Worrawut Chinchang and Dr. Wanna Thongnoppakhun for their excellent technical expertise.

Conflict of interest statement

Authors’ conflict of interest disclosure: The authors stated that there are no conflicts of interest regarding the publication of this article. Research support played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.

Research funding: None declared.

Employment or leadership: None declared.

Honorarium: None declared.

Contribution: V.V. designed the study, analyzed the data, wrote the manuscript and was responsible for all figures and tables. C.L. designed the molecular analysis for β globin genes and organized the clinical and molecular database. C.K., W.G., M.S., W.U. and O.K. were responsible for hematology, molecular studies and data collection. V.V., C.L., S.S., P.R. and V.S.T. are the working committee of the Siriraj-Thalassemia Prevention and Control Program and also clinicians who provided prenatal genetic counseling for all couples in the studies. All authors have approved the final version of the manuscript.

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Received: 2013-02-05
Accepted: 2013-02-20
Published Online: 2013-03-23
Published in Print: 2013-08-01

©2013 by Walter de Gruyter Berlin Boston

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https://doi.org/10.1515/cclm-2013-0098
Keywords for this article
α and β thalassemia mutations; double heterozygote for α and β thalassemia; hemoglobin electrophoresis; red blood cell parameters

Articles in the same Issue

  1. Letters to the Editors
  2. Clinical utility of serum tumor markers and cytokines in cervical cancer and neoplasia
  3. Establishing reference intervals for LDL subfractions in a Korean population using the Lipoprint LDL system
  4. Measurement imprecision of common urinary biochemical analytes on the Roche Cobas 6000 system
  5. A comparison between turbidimetric inhibition immunoassay and capillary electrophoresis in glycated hemoglobin (HbA1c) measurement
  6. Commutability: a peculiar property of calibration and control materials. Definition and evaluation
  7. Diagnostic sensitivity of a panel of tests to detect monoclonal protein in Korean multiple myeloma patients
  8. Commutability of proficiency testing (PT): status of the matrix-related bias in general clinical chemistry
  9. Masthead
  10. Masthead
  11. Editorial
  12. Why specifications for allowable glucose meter errors should include 100% of the data
  13. Reviews
  14. ABO blood group: old dogma, new perspectives
  15. Trace elements and bone health
  16. Mini Review
  17. The role of transcription factors in laboratory medicine
  18. Opinion Papers
  19. Nobelitis: a common disease among Nobel laureates?
  20. The syndrome of the “obsessive-compulsory scientist”: a new mental disorder?
  21. Can current analytical quality performance of UK clinical laboratories support evidence-based guidelines for diabetes and ischaemic heart disease? – A pilot study and a proposal
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  26. Problems in determining thalassemia carrier status in a program for prevention and control of severe thalassemia syndromes: a lesson from Thailand
  27. An enzyme linked immunosorbent assay (ELISA) for the determination of the human haptoglobin phenotype
  28. Blood loss from laboratory diagnostic tests in children
  29. Hematocrit correction does not improve glucose monitor accuracy in the assessment of neonatal hypoglycemia
  30. Evaluation of a mobile clinical pathology laboratory developed for the home care of pediatric patients following transplantation of peripheral blood precursor cells
  31. Folic acid supplementation does not reduce intracellular homocysteine, and may disturb intracellular one-carbon metabolism
  32. Influence of spurious hemolysis on blood gas analysis
  33. Serum procalcitonin predicts development of acute kidney injury in patients with suspected infection
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  35. Nationwide multicenter study aimed at the establishment of common reference intervals for standardized clinical laboratory tests in Japan
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