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Dried Blood Spots - Preparing and Processing for Use in Immunoassays and in Molecular Techniques
Published on: March 13, 2015
Glucose 6 phosphate dehydrogenase deficiency quantitative test in dried blood spot- a potential marker for adult
Prajna P Shetty1, Vijetha Shenoy Belle2, Monalisa Biswas2
1Department of Biochemistry, 379114Srinivas Institute of Medical Sciences and Research Centre, Mukka, Mangalore, India.
Insights
Newborn screening for Glucose 6 Phosphate Dehydrogenase (G6PD) deficiency using dried blood spots (DBS) is feasible and reliable. This approach can prevent complications often diagnosed after malaria, improving early detection of G6PD deficiency.
Area of Science:
- Clinical Diagnostics
- Biochemistry
- Genetics
Background:
- Glucose 6 Phosphate Dehydrogenase (G6PD) deficiency diagnosis typically relies on enzyme activity estimation from fresh blood.
- Current diagnostic methods often lead to delayed G6PD deficiency diagnosis, particularly in cases related to malaria.
- Newborn screening for G6PD deficiency is being explored as a proactive diagnostic strategy.
Purpose of the Study:
- To evaluate the necessity of newborn screening for G6PD deficiency compared to post-malarial diagnosis.
- To assess the feasibility and reliability of using dried blood spots (DBS) for G6PD deficiency screening.
- To determine the correlation between G6PD activity measured in whole blood and DBS.
Main Methods:
- Analysis of 562 blood samples for G6PD enzyme activity.
- Colorimetric measurement of G6PD activity in both whole blood and dried blood spots (DBS) in neonates.
- Statistical analysis to determine the correlation between G6PD activity in different sample types.
Main Results:
- Among 466 adults, 5.7% (27 individuals) had G6PD deficiency, with 81.48% diagnosed post-malarial encounter.
- Eight neonates were identified with G6PD deficiency.
- G6PD activity measurements from DBS samples showed a strong, statistically significant positive correlation with whole blood measurements.
Conclusions:
- Dried blood spot (DBS) screening for G6PD deficiency at birth is a feasible and reliable method.
- Early screening can prevent complications associated with undiagnosed G6PD deficiency.
- Newborn screening offers a proactive approach to managing G6PD deficiency, superseding delayed post-malarial diagnosis.
Abstract:
Glucose 6 Phosphate Dehydrogenase (G6PD) enzyme activity estimation in a freshly collected blood sample is the most widely used diagnostic method for the diagnosis of G6PD deficiency. The objective is to evaluate the need for newborn screening for G6PD deficiency over post-malarial diagnosis and the feasibility and reliability of using dried blood spots (DBS) as samples for screening. A total of 562 samples were analyzed for G6PD and parallel measurement of G6PD activity by the colorimetric method in whole blood and DBS was carried out in the neonatal subset. Among 466 adults, 27 (5.7%) showed G6PD deficiency, out of whom 22 (81.48%) were diagnosed after the malarial encounter. In the pediatric group, 8 neonates showed G6PD deficiency. G6PD activity estimated from DBS samples agreed with whole blood, with a statistically significant strong positive correlation. Screening of G6PD deficiency at birth to prevent future unwarranted complications, using DBS is feasible.
