G6PD-Puerto Lim�n: A new deficient variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia

Elizondo, Jessenia Hernández; Sáenz, German F.; Páez, Carlos A.; Ramon, Meike; García, M.; Bernardo, Ana; Estrada, Mario Pablo

doi:10.1007/bf00282295

Cited by 9 publications

(5 citation statements)

References 4 publications

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“…Only 8 defined cases of CNSA were recorded from Latin America, with 2 from Brazil [78,79], 2 from Chile [80] and 1 each from Cuba [81], Costa Rica [82], Mexico [24] and Puerto Rico [32]. However, in general, these publications had poor clinical descriptions, as they were primarily aimed at characterising the enzyme.…”

Section: Resultsmentioning

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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Section: Resultsmentioning

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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“…Both of these variants are associated with nonspherocytic hemolytic anemia. The substitution of a positively charged lysine at amino acid 398 for the negatively charged glutamic acid normally present accounts for the reported very rapid electrophoretic mobility of the enzyme (Elizondo et al 1982).…”

Section: Discussionmentioning

confidence: 99%

“…Several different G6PD variants have been described among the populations of Costa Rica. These include G6PD Puerto Lim6n, a variant with severe deficiency causing hereditary nonspherocytic hemolytic anemia (Elizondo et al 1982) and G6PD Santamaria (Saenz et al 1984), in which hemolysis was observed only under stress. In addition, investigation of 1097 children of the San Jos6 province revealed a high incidence of G6PD deficiency among black boys, most of the deficient children having residual enzyme with fast mobility, so that it could be classified as G6PD A-.…”

Section: Offprint Requests To: E Beutlermentioning

confidence: 99%

Mutation analysis of glucose-6-phosphate dehydrogenase (G6PD) variants in Costa Rica

et al. 1991

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Glucose-6-phosphate dehydrogenase (G6PD) deficiency has previously been reported among both the black and white populations of Costa Rica. All 28 G6PD A- samples were found to be of the common G6PD A-376G/202A type. A previously described mutation associated with nonspherocytic hemolytic anemia, G6PD Puerto Limón, was found to be due to a G----A transition at nucleotide (nt) 1192, causing a glu----lys substitution. Mutations in this region of the G6PD molecule seem invariably to be associated with chronic hemolytic anemia. G6PD Santamaria had been described previously in two unrelated white subjects. We found that both did, indeed, have the same mutations. In this variant the A----G substitution at nt 376 that is characteristic of G6PD A was present, but an A----T mutation at nt 542, apparently superimposed on the ancient G6PD A mutation, resulted in an asp----val substitution. Thus, the gain of a negative charge at amino acid 126 was counterbalanced by the loss of a charge at amino acid 181, giving rise to a variant with the G6PD A mutation but with normal electrophoretic mobility.

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“…Similar findings are reported by Monteiro et al [ 25 ]. In the Central American region, only Panama [ 26 ] and Costa Rica [ 27 – 30 ] register publications reporting the prevalence of G6PDd. Paradoxically, similar data from Honduras, the country with the highest burden of malaria in the region [ 1 , 31 ], is non-existent—no local publications or reports in the grey literature could be found for the present analysis.…”

Section: Introductionmentioning

confidence: 99%

Glucose-6-phosphate dehydrogenase deficiency among malaria patients of Honduras: a descriptive study of archival blood samples

Zúñiga

Mejía²,

Sánchez

et al. 2015

Malar J

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Background:The frequency of deficient variants of glucose-6-phosphate dehydrogenase (G6PDd) is particularly high in areas where malaria is endemic. The administration of antirelapse drugs, such as primaquine, has the potential to trigger an oxidative event in G6PD-deficient individuals. According to Honduras´ national scheme, malaria treatment requires the administration of chloroquine and primaquine for both Plasmodium vivax and Plasmodium falciparum infections. The present study aimed at investigating for the first time in Honduras the frequency of the two most common G6PDd variants.Methods: This was a descriptive study utilizing 398 archival DNA samples of patients that had been diagnosed with malaria due to P. vivax, P. falciparum, or both. The most common allelic variants of G6PD: G6PD A+ 376G and G6PD A− 376G/202A were assessed by two molecular methods (PCR-RFLP and a commercial kit). Results:The overall frequency of G6PD deficient genotypes was 16.08%. The frequency of the "African" genotype A− (Class III) was 11.9% (4.1% A− hemizygous males; 1.5% homozygous A− females; and 6.3% heterozygous A− females). A high frequency of G6PDd alleles was observed in samples from malaria patients residing in endemic regions of Northern Honduras. One case of Santamaria mutation (376G/542T) was detected. Conclusions:Compared to other studies in the Americas, as well as to data from predictive models, the present study identified a higher-than expected frequency of genotype A− in Honduras. Considering that the national standard of malaria treatment in the country includes primaquine, further research is necessary to ascertain the risk of PQ-triggered haemolytic reactions in sectors of the population more likely to carry G6PD mutations. Additionally, consideration should be given to utilizing point of care technologies to detect this genetic disorder prior administration of 8-aminoquinoline drugs, either primaquine or any new drug available in the near future.

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G6PD-Puerto Lim�n: A new deficient variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia

Cited by 9 publications

References 4 publications

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

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

Mutation analysis of glucose-6-phosphate dehydrogenase (G6PD) variants in Costa Rica

Glucose-6-phosphate dehydrogenase deficiency among malaria patients of Honduras: a descriptive study of archival blood samples

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