Prevalence of glucose-6-phosphate dehydrogenase deficiency and the role of the A− variant in a Saudi population

Alharbi, Khalid Khalaf; Khan, Imran Ali

doi:10.1177/0300060514531923

Cited by 15 publications

(15 citation statements)

References 26 publications

(43 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Most of these studies investigated the prevalence of consanguinity among individuals who live in these countries directly, and other studies examined the effect of consanguinity on particular diseases. [15][16][17][18][19][20]…”

Section: Literature Reviewmentioning

confidence: 99%

Untitled

2018

JIG

View full text Add to dashboard Cite

Section: Literature Reviewmentioning

confidence: 99%

Untitled

2018

JIG

View full text Add to dashboard Cite

Section: Literature Reviewmentioning

confidence: 99%

Untitled

2015

JIG

View full text Add to dashboard Cite

The demographic and quantitative genetic aspects of consanguineous marriages are reviewed before epidemiologic principles are applied. Consanguineous unions range from cousin-cousin to more distant relatedness, and their prevalence varies by culture. The prevalence is highest in Arab countries. They are most common in groups that are poorly educated, have low socioeconomic status and are conservative, but they are declining with modernization. The prevalence rate of consanguineous marriages in the kingdom of Saudi Arabiais51.3% with an average inbreeding coefficient of 0.02265, which is high compared with many other countries. The most important variables affecting inbreeding are the regional background of the family (p<0.001) and the level of education, which is inversely associated with consanguineous marriage (p<0.001). The difference in perinatal and postnatal mortalities between consanguineous and non-consanguineous families is not significant. Consanguinity is measured by geneticists using the inbreeding coefficient, the mean consanguinity of a population, and the concept of genetic load. Recessive genes may be deleterious or beneficial if heterozygous in local conditions. Bayesian statistics can predict, by the coefficient of increase, the probability of diseases in an offspring as a function of consanguinity and disease characteristics. Inbreeding generally increases pre-reproductive mortality. Crude mortality increases with inbreeding in proportion to the mortality rate. Morbidity increases significantly with inbreeding in many diseases studies in many countries. Epidemiologic studies usually measure the effects of inbreeding in terms of genetic load, which is not readily translatable into morbidity and mortality. Family study and other methodological study design problems will be used to implement this study. Confounding is the most difficult problem in such studies, because of the difficulty in selecting non-inbred controls. This study will help to understand and develop a better consultation and education for patient and his/her family and their community.

show abstract

“…G6PD gene mutations reduces enzyme levels and or alter its structure causing hemolytic anemia, as a result of ROS accumulation of [06]. Data for about 400 variants believed to be unique have been characterized on the basis of their biochemical behavior and are grouped into 5 classes according to the level of residual enzyme activity and clinical manifestations [07,08]. The role of enzyme G6PD in RBC involved in the oxidation of glucose and production of NADPH, the co-enzyme that protects RBC from oxidative stress is well documented [09].…”

Section: Introductionmentioning

confidence: 99%

Next generation sequencing (NGS) in glucose-6-phosphate dehydrogenase (G6PD) deficiency studies

Bogari

2016

Bioinformation

View full text Add to dashboard Cite

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is commonly observed in human males. It is a genetic disorder affecting the red blood cells. The diagnosis of G6PD is usually based on blood analysis and there is no specific molecular or genetic test. The complete gene sequence of G6PD is known for different ethnicities. Known single nucleotide polymorphism (SNP) associated with G6PD is available in the public databases. Hence, robust, fast and efficient sequencing of G6PD is critical in disease diagnosis. The application of next generation sequencing (NGS) with its high reliability is useful in G6PD diagnosis.

show abstract

Prevalence of glucose-6-phosphate dehydrogenase deficiency and the role of the A− variant in a Saudi population

Abstract: The G6PD A- mutation (G202A and A376G) does not appear to have a role in G6PD deficiency in a Saudi population.

Cited by 15 publications

References 26 publications

Untitled

Untitled

Untitled

Next generation sequencing (NGS) in glucose-6-phosphate dehydrogenase (G6PD) deficiency studies

Contact Info

Product

Resources

About