Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in patients from the southern Brazilian city of Porto Alegre, RS

Castro, Simone Martins de; Weber, Raquel; Matte, Úrsula da Silveira; Giugliani, Roberto

doi:10.1590/s1415-47572007000100003

Cited by 6 publications

(5 citation statements)

References 18 publications

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“…Although the frequency of G6PD deficiency in the study group was almost twice that of the controls (7.4 vs. 3.7%), it did not reach statistical difference, probably due to the small sample size. The mutations studied for G6PD are the most frequent in our state (15), and the overall prevalence of the deficiency in our sample (5.2%) is consistent with the 7.8% previously described in our population (16)(17)(18)(19).…”

Section: Discussionsupporting

confidence: 91%

UGT1A1, SLCO1B1, and SLCO1B3 polymorphisms vs. neonatal hyperbilirubinemia: is there an association?

et al. 2012

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Background: Jaundice is a physiological phenomenon; however, severe hyperbilirubinemia occurs in only 5 to 6% of the healthy newborn population. It has been suggested that genetic variation could enhance the risk of hyperbilirubinemia when coexpressed with other icterogenic conditions. Methods: The study included newborns with a gestational age of greater than 35 wk and weights greater than 2,000 g with indications for phototherapy. The polymorphisms from UGT1A1 (rs8175347), sLcO1B1 (rs4149056 and rs2306283), and sLcO1B3 (rs17680137 and rs2117032) were analyzed by capillary electrophoresis and hydrolysis probes. results: A total of 167 hyperbilirubinemic infants and 247 control subjects were enrolled. The gender, ABO incompatibility, birth weight, and gestational age differed between the groups, but the allelic and genotypic frequency of the polymorphisms from SLCO1B genes did not. In logistic regression, the ABO incompatibility, gestational age, and polymorphic T allele of rs2117032 remained in the model. The presence of this polymorphism seemed to provide protection from hyperbilirubinemia. The individuals who were homozygous for the G allele of rs2306283 and who were glucose 6-phosphatedehydrogenase deficient were more frequent among the cases. conclusion: Although genetic variation accounts for a good part of this condition, the association between different polymorphisms and environmental factors has yet to be explained.

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Section: Discussionsupporting

confidence: 91%

UGT1A1, SLCO1B1, and SLCO1B3 polymorphisms vs. neonatal hyperbilirubinemia: is there an association?

et al. 2012

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“…The frequency of the G6PD*A - variant among the Afro-descendants studied here (6.1%) is somewhat higher than that observed by Santana et al (2013) among males from the population of Manaus, state of Amazonas (3.8%) and by Dombrowski et al (2017) in males from the Juruá valley, state of Acre, northern Brazil. 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: Discusssionsupporting

confidence: 65%

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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“…One study showed that patients who received blood donated by G6PDd individuals did not develop haemolysis, even though some were using drugs that could potentially trigger this complication [ 15 ]. Some studies showed a higher frequency of previous history of jaundice in G6PDd in relation to non-G6PDd individuals [ 16 ], or a higher frequency of G6PDd in patients with history of acute haemolytic crises in comparison with the general population [ 17 ]. However, haemolysis caused by G6PDd was generally mild [ 16 , 18 , 19 ].…”

Section: Resultsmentioning

confidence: 99%

“…Favism and infection-induced haemolysis appear to play only a minor public health role in this continent. In general, in population-based studies carried out in regions where malaria is not endemic, individuals did not show a great risk of developing G6PDd-related haemolysis in their lifetimes [ 11 - 14 , 16 , 18 , 19 ], despite the establishment of an association between jaundice or history of haemolysis with G6PDd by some authors [ 16 , 17 ]. Another important finding in this context is the difficulty in linking G6PDd-related haemolysis with a specific stressor drug [ 20 , 22 , 23 , 25 , 26 , 126 , 127 ].…”

Section: Discussionmentioning

confidence: 99%

Clinical complications of G6PD deficiency in Latin American and Caribbean populations: systematic review and implications for malaria elimination programmes

Monteiro

Franca

Queiroz

et al. 2014

Malar J

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BackgroundAlthough G6PDd individuals are generally asymptomatic throughout their life, the clinical burden of this genetic condition includes a range of haematological conditions, including acute haemolytic anaemia (AHA), neonatal jaundice (NNJ) and chronic non-sphaerocytic anaemia (CNSA). In Latin America (LA), the huge knowledge gap regarding G6PDd is related to the scarce understanding of the burden of clinical manifestation underlying G6PDd carriage. The aim of this work was to study the clinical significance of G6PDd in LA and the Caribbean region through a systematic review.MethodsA systematic search of the published literature was undertaken in August 2013. Bibliographies of manuscripts were also searched and additional references were identified. Only original research was included. All study designs were included, as long as any clinical information was present. Studies were eligible for inclusion if they reported clinical information from populations living in LA or Caribbean countries or about migrants from these countries living in countries outside this continent.ResultsThe Medline search generated 487 papers, and the LILACS search identified 140 papers. After applying the inclusion criteria, 100 original papers with any clinical information on G6PDd in LA were retrieved. Additionally, 16 articles were included after reading the references from these papers. These 116 articles reported data from 18 LA and Caribbean countries. The major clinical manifestations reported from LA countries were those related to AHA, namely drug-induced haemolysis. Most of the published works regarding drug-induced haemolysis in LA referred to haemolytic crises in P. vivax malaria patients during the course of the treatment with primaquine (PQ). Favism, infection-induced haemolysis, NNJ and CNSA appear to play only a minor public health role in this continent.ConclusionHaemolysis in patients using PQ seems to be the major clinical manifestation of G6PDd in LA and contributes to the morbidity of P. vivax infection in this continent, although the low number of reported cases, which could be linked to under-reporting of complications. These results support the need for better strategies to diagnose and manage G6PDd in malaria field conditions. Additionally, Malaria Control Programmes in LA should not overlook this condition in their national guidelines.

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Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in patients from the southern Brazilian city of Porto Alegre, RS

Cited by 6 publications

References 18 publications

UGT1A1, SLCO1B1, and SLCO1B3 polymorphisms vs. neonatal hyperbilirubinemia: is there an association?

UGT1A1, SLCO1B1, and SLCO1B3 polymorphisms vs. neonatal hyperbilirubinemia: is there an association?

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

Clinical complications of G6PD deficiency in Latin American and Caribbean populations: systematic review and implications for malaria elimination programmes

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