A novel c.197T &lt;FONT FACE=Symbol&gt;®&lt;/FONT&gt; A variant among Brazilian neonates with glucose-6-phosphate dehydrogenase deficiency

Neto, José Pereira de Moura; Dourado, Marcos Vinícius; Reis, Mitermayer Galvão dos; Gonçalves, Marilda de Souza

doi:10.1590/s1415-47572008000100006

Cited by 6 publications

(4 citation statements)

References 7 publications

(5 reference statements)

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“…It is also higher than the frequency found by Castro et al (2007) in newborns from Porto Alegre, southern Brazil (2.9%), but is similar to those found in Campinas (6.1%) and São Paulo (5.8%), southeastern Brazil, by Mezzacappa et al (2010) and Oliveira et al (2009) , respectively. On the other hand, the frequency of G6PD*A- in the current study is lower than the frequency of 8.2% reported by Moura-Neto et al (2008) for the population of Salvador, Bahia, northeastern Brazil, a population of predominantly African origin ( Santos et al , 2016 ).…”

Section: Discusssioncontrasting

confidence: 93%

“…The other variant found among Afro-descendants, the African variant G6PD*A , which exhibited an unexpected frequency of 10.4%, was found in the population of Salvador, Bahia, with a frequency of 3.1% ( Moura-Neto et al , 2008 ) and in a sample of Black males from Rio Grande do Sul, with a frequency of 8% ( Weimer et al , 1981 ). This finding may be a particular feature of the Afro-descendant population studied here, particularly those from Erepecuru River, reflecting the origin of the African slaves who founded these communities.…”

Section: Discusssionmentioning

confidence: 96%

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Molecular genotyping of G6PD mutations and Duffy blood group in Afro-descendant communities from Brazilian Amazon

et al. 2018

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Glucose-6-phosphate dehydrogenase deficiency (G6PDd) and Duffy-negative blood group are two red blood cells variants that confer protection against malaria. In this study, the distribution of the most common G6PD variants (G6PD*A-, GGPD*A and G6PD Mediterranean) and the major alleles of the Duffy blood group (FY*A, FY*B and FY*B ES) were investigated in an Afro-descendant population from state of Pará, Brazilian Amazon. G6PD variants and Duffy blood group alleles were determined by TaqMan SNP genotyping assay. Overall, molecular genotyping revealed the presence of G6PD variants in 126 (24%) of the individuals studied (5% male and 19% female), and frequencies of the G6PD*A- and G6PD*A alleles were 0.061 and 0.104, respectively. Duffy blood group genotyping showed that 24.3% of people were Duffy-negative and 41.3% were heterozygous for FY*B ES. The frequency of allele FY*B ES was 41.0%. The results emphasize the need to monitor G6PD deficiency for the use of primaquine in the routine care of the Afro-descendant communities of the Trombetas, Erepecuru and Cumná rivers, evaluating the risks of hemolytic crisis in case of recurrence of malaria in the region. In addition, the possible greater protection against malaria conferred by these erythrocyte polymorphisms deserves to be better investigated and explored among these Afro-descendants.

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Section: Discusssioncontrasting

confidence: 93%

Section: Discusssionmentioning

confidence: 96%

Molecular genotyping of G6PD mutations and Duffy blood group in Afro-descendant communities from Brazilian Amazon

et al. 2018

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“…Although our study did not determine G6PD enzyme activity, the genotypic variants found could predict its activity and associate it with clinical events in the patient. This study reported a high frequency of African variants c.202G > A/c.376A > G in AML patients in the state of Amazonas among individuals in the region who were brown-skinned, corroborating the higher prevalence of these variants in most of Brazil [26]- [29]. Added to these data, the results of this study corroborate those found in the literature, which demonstrates frequencies close to what was observed and that these are linked to a higher occurrence in patients with AML, mainly during treatment [9].…”

Section: Discussionsupporting

confidence: 76%

c.202G > A/c.376A > G G6PD Polymorphisms Increase the Risk of Fungal Infections in Acute Myeloid Leukemia Patients

Freitas,

Albuquerque,

Lima

et al. 2024

EJMED

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Introduction: Patients with acute myeloid leukemia (AML) show a higher risk for several types of infections, including fungal infections (FI), which are one of the main causes of morbidity and mortality. Glucose-6-phosphate dehydrogenase (G6PD) is an enzyme located in all cells that is very necessary in leukocytes for the production of basic and acid proteases that are used to destroy invading microorganisms. Our objective in this study was to evaluate whether polymorphisms in the G6PD gene concomitantly with FI are associated with clinical events and morbidity in patients diagnosed with AML and followed up at the Amazonas State Blood Center (HEMOAM), Manaus, Brazil. Materials and Methods: The study population was randomly constituted of adults and children, of either sex, and any age, with a diagnosis of acute myeloid leukemia, all of whom were undergoing treatment at the HEMOAM. Molecular genotyping was performed using real-time PCR (qPCR) and subsequent Sanger sequencing to confirm the c.202G > A/c.376A > G polymorphisms. Results: A total of 157 patients (91 (58%) males and 66 (42%) females) were involved in the study. The most prevalent AML subtype in the studied group was M3 in 63 patients (40.12%), followed by M5 in 33 patients (21.02%), M2 in 21 patients (13.37%) and M4 in 15 patients (9.55%), with a similar prevalence between genders. The prevalence of fungal infections was identical between genders; however, bruising (p = 0.004), vomiting (p = 0.016) and cardiac alterations (p < 0.001) were higher in females, while persistent cough (p = 0.049) and diarrhea (p < 0.001) were higher in males. A total of eighteen patients presents G6PD polymorphisms, with 8 (5.1%) of these for c.202GA/AA, 18 (11.5%) for c.376AG/GG and 4 (2.5%) for both polymorphisms concomitantly (c.202AA/c.376GG). However, the prevalence of death in patients affected with FI was much higher in those that have these polymorphisms (p < 0.001). Conclusion: We believe that the determination of G6PD polymorphisms will allow the development of monitoring strategies, and aid in early diagnosis and the appropriate and targeted treatment for AML. In addition, evaluating their activity may help to identify AML patients at a higher risk of FI, thus allowing the design of more intensive therapeutic and surveillance strategies.

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“…G6PD Coimbra is very close to the G6PD Mediterranean in exon 6 and has similar kinetic properties [45]. Other mutation, the Class II G6PD Bahia mutant was reported by Pereira et al [51], this mutant has a substitution of thymine for adenine (T > A) at nucleotide 197 (exon 4) (Phe66Thr) and was found in five neonates of Salvador in the Northeastern Brazilian estate Bahia (Figure 4). …”

Section: Molecular Characterization Of G6pd Variantsmentioning

confidence: 84%

Glucose-6-Phosphate Dehydrogenase: Update and Analysis of New Mutations around the World

Gómez-Manzo

Marcial-Quino

Vanoye-Carlo

et al. 2016

IJMS

161

147

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Glucose-6-phosphate dehydrogenase (G6PD) is a key regulatory enzyme in the pentose phosphate pathway which produces nicotinamide adenine dinucleotide phosphate (NADPH) to maintain an adequate reducing environment in the cells and is especially important in red blood cells (RBC). Given its central role in the regulation of redox state, it is understandable that mutations in the gene encoding G6PD can cause deficiency of the protein activity leading to clinical manifestations such as neonatal jaundice and acute hemolytic anemia. Recently, an extensive review has been published about variants in the g6pd gene; recognizing 186 mutations. In this work, we review the state of the art in G6PD deficiency, describing 217 mutations in the g6pd gene; we also compile information about 31 new mutations, 16 that were not recognized and 15 more that have recently been reported. In order to get a better picture of the effects of new described mutations in g6pd gene, we locate the point mutations in the solved three-dimensional structure of the human G6PD protein. We found that class I mutations have the most deleterious effects on the structure and stability of the protein.

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A novel c.197T <FONT FACE=Symbol>®</FONT> A variant among Brazilian neonates with glucose-6-phosphate dehydrogenase deficiency

Cited by 6 publications

References 7 publications

Molecular genotyping of G6PD mutations and Duffy blood group in Afro-descendant communities from Brazilian Amazon

Molecular genotyping of G6PD mutations and Duffy blood group in Afro-descendant communities from Brazilian Amazon

c.202G > A/c.376A > G G6PD Polymorphisms Increase the Risk of Fungal Infections in Acute Myeloid Leukemia Patients

Glucose-6-Phosphate Dehydrogenase: Update and Analysis of New Mutations around the World

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