Screening of hemoglobinopathies in 32000 dried blood spot samples by cation exchange high performance liquid chromatography - An Indian study

International Journal of Medical Science

© 2017 by SSRG - IJMS Journal

Volume 4 Issue 7

Year of Publication : 2017

Authors : Mahesh H Hampe, Shrimant N Panaskar, Mr. Rajan Mestri, Ms. Neha A Kamble, Ms. Pallavi S. Chaudhari, Ashwini A Yadav, Pramod W Ingale and Babu Kandasamy

10.14445/23939117/IJMS-V4I7P101

How to Cite?

Mahesh H Hampe, Shrimant N Panaskar, Mr. Rajan Mestri, Ms. Neha A Kamble, Ms. Pallavi S. Chaudhari, Ashwini A Yadav, Pramod W Ingale and Babu Kandasamy, "Screening of hemoglobinopathies in 32000 dried blood spot samples by cation exchange high performance liquid chromatography - An Indian study," SSRG International Journal of Medical Science, vol. 4,  no. 7, pp. 1-7, 2017. Crossref, https://doi.org/10.14445/23939117/IJMS-V4I7P101

Abstract:

Background & objectives:The present study evaluated usefulness of cation exchange highperformance liquid chromatography (HPLC) as a screening tool for early detection of thalassemia & hemoglobin variants in dried blood spot (DBS) samples. We discussed the laboratory aspects ofdiagnostic difficulties in HPLC based screening algorithm in Indian population.Methods:-A total of 32000 DBS samples collected from neonates were primarily screened for hemoglobinopathies on HPLC between June 2013 and May 2016. All presumptive abnormal profiles were re-tested on HPLC after 6 months of age. The follow up results were correlated with parental studies and additional investigations for confirmation.Results: Totally 982 samples (3.06%) showed abnormal HPLC pattern on primary neonatal screening. In follow up testing of 914 presumptive abnormal cases, 583 (1.82%) cases have been confirmed for variant hemoglobin’s. Sickle variant was the commonest hemoglobinopathy found in 156 (26.7%) cases. HbE (21.4%), β-thalassemia (19.5%) and HbD (19.5%) disorders being the next common variants. HPLC alone diagnosed more than 85% cases with abnormal variants. Interpretation &Conclusions: Analysis of DBS samples on HPLC is a convenient primary tool for hemoglobin variant screening for hemoglobinopathies. Our study enabled us to design a practical flow chart for large scale HPLC based screening of major hemoglobinopathies with judicious requirement of investigations on other platforms.

Keywords:

High performance liquid chromatography (HPLC), dried blood spot (DBS), hemoglobinopathies.

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