[PMID]: | 28902532 |
[Au] Autor: | Peters AL; Veldthuis M; van Leeuwen K; Bossuyt PMM; Vlaar APJ; van Bruggen R; de Korte D; Van Noorden CJF; van Zwieten R |
[Ad] Endereço: | Department of Intensive Care, Academic Medical Centre, Amsterdam, The Netherlands. |
[Ti] Título: | Comparison of Spectrophotometry, Chromate Inhibition, and Cytofluorometry Versus Gene Sequencing for Detection of Heterozygously Glucose-6-Phosphate Dehydrogenase-Deficient Females. |
[So] Source: | J Histochem Cytochem;65(11):627-636, 2017 Nov. |
[Is] ISSN: | 1551-5044 |
[Cp] País de publicação: | United States |
[La] Idioma: | eng |
[Ab] Resumo: | Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme deficiency worldwide. Detection of heterozygously deficient females can be difficult as residual activity in G6PD-sufficient red blood cells (RBCs) can mask deficiency. In this study, we compared accuracy of 4 methods for detection of G6PD deficiency in females. Blood samples from females more than 3 months of age were used for spectrophotometric measurement of G6PD activity and for determination of the percentage G6PD-negative RBCs by cytofluorometry. An additional sample from females suspected to have G6PD deficiency based on the spectrophotometric G6PD activity was used for measuring chromate inhibition and sequencing of the G6PD gene. Of 165 included females, 114 were suspected to have heterozygous deficiency. From 75 females, an extra sample was obtained. In this group, mutation analysis detected 27 heterozygously deficient females. The sensitivity of spectrophotometry, cytofluorometry, and chromate inhibition was calculated to be 0.52 (confidence interval [CI]: 0.32-0.71), 0.85 (CI: 0.66-0.96), and 0.96 (CI: 0.71-1.00, respectively, and the specificity was 1.00 (CI: 0.93-1.00), 0.88 (CI: 0.75-0.95), and 0.98 (CI: 0.89-1.00), respectively. Heterozygously G6PD-deficient females with a larger percentage of G6PD-sufficient RBCs are missed by routine methods measuring total G6PD activity. However, the majority of these females can be detected with both chromate inhibition and cytofluorometry. |
[Mh] Termos MeSH primário: |
Cromatos/antagonistas & inibidores Citometria de Fluxo/métodos Deficiência de Glucosefosfato Desidrogenase/diagnóstico Glucosefosfato Desidrogenase/genética Heterozigoto Espectrofotometria/métodos
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[Mh] Termos MeSH secundário: |
Feminino Deficiência de Glucosefosfato Desidrogenase/genética Seres Humanos Lactente
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[Pt] Tipo de publicação: | COMPARATIVE STUDY; JOURNAL ARTICLE |
[Nm] Nome de substância:
| 0 (Chromates); EC 1.1.1.49 (Glucosephosphate Dehydrogenase) |
[Em] Mês de entrada: | 1711 |
[Cu] Atualização por classe: | 171110 |
[Lr] Data última revisão:
| 171110 |
[Sb] Subgrupo de revista: | IM |
[Da] Data de entrada para processamento: | 170914 |
[St] Status: | MEDLINE |
[do] DOI: | 10.1369/0022155417730021 |
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