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Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common hereditary enzymatic disorder of red blood cells in humans due to mutations in the G6PD gene. The G6PD enzyme catalyzes the first step in the pentose phosphate pathway to protect cells against oxidative stress. Mutations in the G6PD gene will cause functional variants with various biochemical and clinical phenotypes. So far, about 160 mutations along with more than 400 biochemical variants have been described. G6PD-MutDB is a disease-specific resource of G6PD deficiency, collecting and integrating G6PD mutations with biochemical and clinical phenotypes. Data of G6PD deficiency is manually extracted from published papers, focusing primarily on variants with identified mutation and well-described quantitative phenotypes. G6PD-MutDB implements an approach, CNSHA predictor, to help identify a potential chronic non-spherocytic hemolytic anemia (CNSHA) phenotype of an unknown mutation. G6PD-MutDB is believed to facilitate analysis of relationship between molecular mutation and functional phenotype of G6PD deficiency owing to convenient data resource and useful tools. This database is available from .

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive enzyme disorder that affects an estimated 200-400 million people. More than four hundred biochemical variants have been identified reflecting the vast heterogeneity of this disorder. At the molecular level, less than a hundred mutations have been characterized indicating a need for a rapid and efficient approach for mutational screening of G6PD deficient individuals in different populations. A technique called multiplex PCR using multiple tandem forward primers and a common reverse primer (MPTP technique) was recently developed. It was initially tested in Singapore population where the incidence of this deficiency occurs at approximately 3% of newborn males. The MPTP technique allows quick and comprehensive screening of point mutations and can be adopted to detect common variants such as 1376G→T (G6PD Canton) and 1388G→A (G6PD Kaiping) in mutation hot spots for specific populations. This paper presents a brief review on G6PD deficiency and the application of the MPTP technique for screening this disorder.