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Improvement for Diagnosis of G6PD Deficiency Using an In-House Spectrophotometric Assay |
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| รหัสดีโอไอ | |
| Creator | Duantida Songdej |
| Title | Improvement for Diagnosis of G6PD Deficiency Using an In-House Spectrophotometric Assay |
| Contributor | Usanarat Anurathapan, Nongnuch Sirachainan, Ampaiwan Chuansumrit, Werasak Sasanakul, Pakawan Wongwerawattanakoon, Lalita Mahaklan, Praguywan Kadegasem, Rungrote Natesirinilkul |
| Publisher | Faculty of Medicine Ramathibodi Hospital, Mahidol University |
| Publication Year | 2561 |
| Journal Title | Ramathibodi Medical Journal |
| Journal Vol. | 41 |
| Journal No. | 2 |
| Page no. | 078-089 |
| Keyword | G6PD enzyme assay, G6PD assay cut-offs, G6PD deficiency |
| URL Website | https://www.tci-thaijo.org/index.php/ramajournal |
| Website title | Ramathibodi Medical Journal |
| ISSN | 0125-3611 |
| 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. |
