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

Duantida Songdej; Usanarat Anurathapan; Nongnuch Sirachainan; Ampaiwan Chuansumrit; Werasak Sasanakul; Pakawan Wongwerawattanakoon; Lalita Mahaklan; Praguywan Kadegasem; Rungrote Natesirinilkul

doi:10.14456/rmj.2018.18

Authors

Duantida Songdej Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand https://orcid.org/0000-0001-9635-0248
Usanarat Anurathapan Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
Nongnuch Sirachainan Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand https://orcid.org/0000-0001-8039-5476
Ampaiwan Chuansumrit Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
Werasak Sasanakul Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand https://orcid.org/0000-0003-3857-5179
Pakawan Wongwerawattanakoon Department of Nursing, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand https://orcid.org/0000-0003-1055-419X
Lalita Mahaklan Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
Praguywan Kadegasem Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand https://orcid.org/0000-0003-0216-1660
Rungrote Natesirinilkul Department of Pediatrics, Faculty of Medicine Chiang Mai University, Chiang Mai, Thailand

DOI:

https://doi.org/10.14456/rmj.2018.18

Keywords:

G6PD enzyme assay, G6PD assay cut-offs, G6PD deficiency

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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