G6PD deficiency: the genotype-phenotype association

Mason, Philip J.; Bautista, José M.; Gilsanz, Florinda

doi:10.1016/j.blre.2007.05.002

Cited by 240 publications

(245 citation statements)

References 100 publications

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“…In addition, Johnson et al (2009) found no protective effect for either male hemizygotes (A-) or female heterozygotes (BA-) in a Uganda population, but did find a protective effect for females that were found to be G6PD deficient. This perplexing finding appears to be based on the incomplete correlation of genotype and phenotype for G6PD deficiency in female heterozygotes due to variable inactivation of the two X chromosomes (Mason et al, 2007).…”

Section: G6pd Deficiencymentioning

confidence: 99%

Population genetics of malaria resistance in humans

2011

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Section: G6pd Deficiencymentioning

confidence: 99%

Population genetics of malaria resistance in humans

2011

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“…In some populations in which the defective allele frequency is high, cases of homozygous defi cient women are not uncommon. Heterozygous defi cient women have a mixed population of erythrocytes (with normal or defi cient expression of the G6PD enzyme), owing to random inactivation of one of the two X chromosomes (the lionization phenomenon) (13) (15) (16) .…”

Section: Introductionmentioning

confidence: 99%

Validation of the rapid test Carestart(tm) G6PD among malaria vivax-infected subjects in the Brazilian Amazon

Brito

Peixoto

Almeida

et al. 2016

Rev. Soc. Bras. Med. Trop.

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“…G6PD deficiency is an enzymatic disorder of red blood cells in humans which is inherited in an Xlinked recessive pattern [1]; it is the most common genetic defect. An estimated 400 million people worldwide have G6PD deficiency.…”

Section: Introductionmentioning

confidence: 99%

Prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency in southeast Iran: implications for malaria elimination

Tabatabaei

Khorashad

Sakeni

et al. 2015

J Infect Dev Ctries

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Introduction: Glucose-6-phosphate dehydrogenase deficiency (G6PD) is an X-linked genetic disorder with a relatively high frequency in malaria-endemic regions. It is an obstacle to malaria elimination, as primaquine administered in the treatment of malaria can cause hemolysis in G6PD-deficient individuals. This study presents information on the prevalence of G6PD deficiency in Sistan and Balouchetsan province, which hosts more than 90% of Plasmodium vivax malaria cases in Iran. This type of information is needed for a successful malaria elimination program. Methodology: A total of 526 students were randomly recruited through schools located in southeast Iran. Information was collected by interviewing the students using a structured questionnaire. Blood samples taken on filter papers were examined for G6PD deficiency using the fluorescent spot test. Results: Overall, 72.8% (383/526) of the subjects showed normal G6PD enzyme function. Mild and severe G6PD deficiency was observed in 14.8% (78) and 12.2% (64) of subjects, respectively. A total 193/261 males (73.9%) and 190/265 (72%) females had normal enzyme activity. Mild G6PD deficiency was observed in 10.8% (28) and 18.9% (50) of male and female subjects, respectively. However, in comparison with females, a greater proportion of males showed severe enzyme deficiency (15.3% versus 9.1%). All these differences were statistically significant (p < 0.006). Conclusions: G6PD deficiency is highly prevalent in southeast Iran. G6PD-deficient individuals are susceptible to potentially severe and lifethreatening hemolytic reactions after primaquine treatment. In order to achieve malaria elimination goals in the province, G6PD testing needs to be made routinely available within the health system.

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G6PD deficiency: the genotype-phenotype association

Cited by 240 publications

References 100 publications

Population genetics of malaria resistance in humans

Population genetics of malaria resistance in humans

Validation of the rapid test Carestart(tm) G6PD among malaria vivax-infected subjects in the Brazilian Amazon

Prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency in southeast Iran: implications for malaria elimination

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