Incidence of glucose 6-phosphate dehydrogenase deficiency and some observations in patients with haemoglobinuria

Prevalence and Genetic Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency in Anemic Subjects from Uttar Pradesh, India

“…A higher prevalence is reported among tribal groups of India. 2 Also, the high prevalence of G6PD deficiency correlates well with the geographic distribution of malaria, supporting the notion that G6PD deficiency carriers are protected against malarial infection. 5 The G6PD gene, located on the distal long arm of the X chromosome, consists of 13 exons and 12 introns, spanning nearly 20 kb in total.…”

“…14 In India, regional-wide variation in the incidence of G6PD deficiency ranges from 2.3 to 27.7%. 2 Biochemical screening followed by mutational profiling of G6PD deficiency among the diverse Indian population is being focused. The three most common mutations, Mediterranean, Orissa, and Kerala-Kalyan, account for most of the G6PD deficiency cases reported in the Indian subcontinent.…”

“…Among 95 deficient cases, G6PD Mediterranean (92%) was found as the most prevalent mutation followed by Coimbra (4%) and Orissa (4%). 2 The Coimbra and Orissa mutations are equally prevalent. In contrast to the reports, we did not find Kerala-Kalyan mutation in our study cohort.…”

“…Mutations in the G6PD gene cause its deficiency and enzymes have diminished ability to withstand oxidative stress leading to the destruction of RBC. 2 Affected individuals are mostly asymptomatic, but exposure to certain drugs, infection, and food items (e.g., Fava bean), which can produce free radicals, may trigger acute hemolysis. Other substances that can induce acute hemolysis are cosmetics such as henna (hena), and household chemicals such as naphthalene.…”

Studies on Chloramphenicol Induced Haemolysis in vitro and Survival of Chloramphenicol Treated Cells in vivo

“…We have had occassion to observe two cases of chloramphenicol induced haemoglobinuria (5). The patients showed deficiency of the red cell enzyme glucose 6-phosphate dehydrogenase (G6PD).…”