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Research Article | Open Access
Volume 4 | Issue 7 | Year 2017 | Article Id. IJMS-V4I7P101 | DOI : https://doi.org/10.14445/23939117/IJMS-V4I7P101

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

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

Citation :

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," 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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