Startseite Newborn screening for haemoglobinopathies by high performance liquid chromatography (HPLC): diagnostic utility of different approaches in resource-poor settings
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Newborn screening for haemoglobinopathies by high performance liquid chromatography (HPLC): diagnostic utility of different approaches in resource-poor settings

  • Dipti S. Upadhye , Dipty L. Jain , Yogesh L. Trivedi , Anita H. Nadkarni , Kanjaksha Ghosh und Roshan B. Colah EMAIL logo
Veröffentlicht/Copyright: 28. Juni 2014
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Clinical Chemistry and Laboratory Medicine (CCLM)
Aus der Zeitschrift Clinical Chemistry and Laboratory Medicine (CCLM) Band 52 Heft 12

Abstract

Background: Sickle cell disease is a major health burden in India. The aim of the study was to compare the diagnostic utility of two different approaches on automated high performance liquid chromatography (HPLC) for newborn screening for sickle cell disorders and other haemoglobinopathies in India.

Methods: Newborn babies of sickle heterozygous mothers were tested by HPLC using two different kits, the β-thal short kit, which is routinely used for screening for haemoglobinopathies in most laboratories, and the sickle cell short kit which is specific only for neonatal samples. Confirmation of the sickle and α genotypes was done by molecular analysis.

Results: Of the 601 babies tested, 276 were normal, 284 were sickle heterozygous and 41 were sickle homozygous using the β-thal short kit. Using the sickle cell short kit, a discrepancy was seen in one newborn sample where a normal baby was identified as a sickle heterozygous baby. α-Genotyping was done in 42 babies and 16 of them had α gene deletions. The presence of α thalassaemia could be suspected in 15 of these 16 babies based on a spike at the start of the chromatogram using the β-thal short kit. In comparison, using the sickle cell short kit the diagnosis of α thalassaemia was difficult based on the percentage of the FAST peak. Further, other rare α chain Hb variants were also missed.

Conclusions: The β-thal short kit was more versatile than the sickle cell short kit for screening for haemoglobinopathies in newborns in our population.

Keywords: β-thal short kit; haemoglobinopathies; high performance liquid chromatography (HPLC); India; newborn screening; sickle cell short kit.
Corresponding author: Dr. Roshan B. Colah, PhD, Scientist F, National Institute of Immunohaematology (Indian Council of Medical Research), 13th floor, New Multistoried Building, KEM Hospital Campus, Parel, Mumbai 400012, India, Phone: +91 22 24138518/19, Fax: +91 22 24138521, E-mail:

Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

Financial support: This study was funded by the Department of Biotechnology, Government of India.

Employment or leadership: None declared.

Honorarium: None declared.

Competing interests: The funding organization(s) 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.

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Received: 2014-4-28
Accepted: 2014-6-7
Published Online: 2014-6-28
Published in Print: 2014-12-1

©2014 by De Gruyter

Artikel in diesem Heft

  1. Frontmatter
  2. Editorials
  3. CCLM Award for The Most Cited Paper Recently Published
  4. Laboratory preparedness to face infectious outbreaks. Ebola and beyond
  5. Reviews
  6. Determination of reference limits: statistical concepts and tools for sample size calculation
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  31. Letters to the Editor
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https://doi.org/10.1515/cclm-2014-0452
Schlagwörter für diesen Artikel
β-thal short kit; haemoglobinopathies; high performance liquid chromatography (HPLC); India; newborn screening; sickle cell short kit.

Artikel in diesem Heft

  1. Frontmatter
  2. Editorials
  3. CCLM Award for The Most Cited Paper Recently Published
  4. Laboratory preparedness to face infectious outbreaks. Ebola and beyond
  5. Reviews
  6. Determination of reference limits: statistical concepts and tools for sample size calculation
  7. Recent advances in physiological lipoprotein metabolism
  8. New laboratory markers for the management of rheumatoid arthritis patients
  9. General Clinical Chemistry and Laboratory Medicine
  10. The impact of repeat-testing of common chemistry analytes at critical concentrations
  11. Performance of CKD-EPI equation to estimate glomerular filtration rate as compared to MDRD equation in South Brazilian individuals in each stage of renal function
  12. The serum uromodulin level is associated with kidney function
  13. Efficient assessment of peripheral blood lymphocytosis in adults: developing new thresholds for blood smear review by pathologists
  14. Performance evaluation of Sysmex XN hematology analyzer in umbilical cord blood: a comparison study with Sysmex XE-2100
  15. UF-1000i: validation of the body fluid mode for counting cells in body fluids
  16. Newborn screening for haemoglobinopathies by high performance liquid chromatography (HPLC): diagnostic utility of different approaches in resource-poor settings
  17. Progressive chromogenic anti-factor Xa assay and its use in the classification of antithrombin deficiencies
  18. Reference Values and Biological Variations
  19. Thyroid-stimulating hormone reference range and factors affecting it in a nationwide random sample
  20. Reference ranges for serum β-trace protein in neonates and children younger than 1 year of age
  21. A multicenter nationwide reference intervals study for common biochemical analytes in Turkey using Abbott analyzers
  22. Serum reference intervals of homoarginine, ADMA, and SDMA in the Study of Health in Pomerania
  23. Cancer Diagnostics
  24. Low SOX17 expression: prognostic significance in de novo acute myeloid leukemia with normal cytogenetics
  25. Results of first proficiency test for KRAS testing with formalin-fixed, paraffin-embedded cell lines in China
  26. Aberrant hypermethylation of CTNNA1 gene is associated with higher IPSS risk in patients with myelodysplastic syndrome
  27. Cardiovascular Diseases
  28. Association between SNP rs13376333 and rs1131820 in the KCNN3 gene and atrial fibrillation in the Chinese Han population
  29. Acknowledgment
  30. Acknowledgment
  31. Letters to the Editor
  32. Interference in thyroid hormones with Roche immunoassays: an unfinished story
  33. Discrepant results in plasma, but not serum in the Beckman Coulter DxI Access HYPERsensitive hTSH 3rd generation assay affect the management of differentiated thyroid cancer and hyperthyroid patients
  34. Improper serum separation on gel tubes: a trivial laboratory problem or an indicator of monoclonal gammopathy?
  35. Analytical comparison of the new point-of-care troponin T immunoassay on AQT90Flex® analyzer (Radiometer) and the high-sensitivity troponin T immunoassay on ModularE170® (Roche Diagnostics)
  36. Performance characteristics of the enzymatic Abbott Architect HbA1c whole blood assay
  37. Multi-center proficiency tests for Lab-MELD score diagnostics to improve the quality and safety for patients awaiting liver transplantation
  38. The apolipoprotein B/apolipoprotein A-I ratio in healthy men with normolipidemia: limits of variation and relationship with other lipid parameters
  39. Validity and reliability of the 13C-methionine breath test for the detection of moderate hyperhomocysteinemia in Mexican adults; statistical issues in validity and reliability analysis
  40. Enzymatic and endpoint methods yield comparable adenosine deaminase activity in pleural fluid samples
  41. Congress Abstract
  42. 5th Italian GREAT Network Congress
  43. Congress of Laboratory Medicine and Clinical Chemistry
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