Improvement for Diagnosis of G6PD Deficiency Using an In-House Spectrophotometric Assay

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Duantida Songdej https://orcid.org/0000-0001-9635-0248 Usanarat Anurathapan Nongnuch Sirachainan https://orcid.org/0000-0001-8039-5476 Ampaiwan Chuansumrit Werasak Sasanakul https://orcid.org/0000-0003-3857-5179 Pakawan Wongwerawattanakoon https://orcid.org/0000-0003-1055-419X Lalita Mahaklan Praguywan Kadegasem https://orcid.org/0000-0003-0216-1660 Rungrote Natesirinilkul

Abstract

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common red cell enzyme defect found in Thai population. Accurate diagnosis is essential for counseling.


Objective: To establish a G6PD enzyme assay and reference values.


Methods: G6PD deficient Thai individuals and healthy volunteers were recruited. Identification of G6PD mutations and G6PD enzyme assay were performed in all subjects. The cut-offs for classification of residual enzyme level were identified using Receiver Operating Characteristics (ROC) curves.


Results: Eighty-eight subjects were divided into three groups according to their G6PD genotype: Group 1, Wild-type (n = 35); Group 2, Carrier (n = 27) and Group 3, Deficiency (n = 26). Median G6PD level (interquartile range) of Group 3 was significantly lower than that of Group 2 and Group 1, 0.6 (0.3 to 1.5) vs 5.3 (4.6 to 6.7) vs 9.3 (8.0 to 10.3) IU/gHb; P < 0.01). G6PD level of < 2.9, > 2.9 - 6.7, and > 6.7 IU/gHb were found to be optimum for classification of residual G6PD enzyme into deficiency, intermediate and normal. These cut-offs resulted in 87% sensitivity and 97% specificity for correct classification of enzyme level according to genetic diagnosis. The enzyme level of 78% of subjects in Group 2 were precisely classified as intermediate deficiency. G6PD Viangchan (871G > A) and Canton (1376G > T) are the two most prevalent mutations found.


Conclusions: The established G6PD enzyme assay and its cut-off values provided high sensitivity and specificity for classification of individuals into G6PD deficiency, intermediate and normal.


  

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How to Cite
Songdej, D., Anurathapan, U., Sirachainan, N., Chuansumrit, A., Sasanakul, W., Wongwerawattanakoon, P., Mahaklan, L., Kadegasem, P., & Natesirinilkul, R. (2018). Improvement for Diagnosis of G6PD Deficiency Using an In-House Spectrophotometric Assay. Ramathibodi Medical Journal, 41(2), 78-89. https://doi.org/10.14456/rmj.2018.18
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Original Articles

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