Favism in the African type of glucose-6-phosphate dehydrogenase deficiency (A-).

Galiano, Silvana; Gaetani, Gian Franco; Barabino, A.; Cottafava, F; Zeitlin, Helen; Town, Margaret; Luzzatto, Lucio

doi:10.1136/bmj.300.6719.236

Cited by 36 publications

(12 citation statements)

References 2 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The early investigations of “primaquine sensitivity” among G6PD A- volunteers found primaquine-induced haemolysis to be mild and self-limiting [ 1 , 30 , 64 , 67 - 69 ]. Nevertheless, the haemolytic susceptibility of this “mild” variant has been observed through severe reactions requiring transfusion [ 70 ], as well as through the failure of the Lapdap (chlorproguanil-dapsone) anti-malarial trials [ 71 , 72 ], and as haemolysis induced by the ingestion of fava beans [ 73 ], a pathology previously thought to only be triggered by more severe variants [ 74 ]. Haemolysis associated with G6PD A- , while perhaps less severe than with other variants in some circumstances or settings, ought not be universally characterized as “mild” as this risks leading to misplaced confidence in a relatively cavalier application of the drug.…”

Section: Discussionmentioning

confidence: 99%

Spatial distribution of G6PD deficiency variants across malaria-endemic regions

Howes

Dewi

Piel

et al. 2013

Malar J

141

162

View full text Add to dashboard Cite

BackgroundPrimaquine is essential for malaria control and elimination since it is the only available drug preventing multiple clinical attacks by relapses of Plasmodium vivax. It is also the only therapy against the sexual stages of Plasmodium falciparum infectious to mosquitoes, and is thus useful in preventing malaria transmission. However, the difficulties of diagnosing glucose-6-phosphate dehydrogenase deficiency (G6PDd) greatly hinder primaquine’s widespread use, as this common genetic disorder makes patients susceptible to potentially severe and fatal primaquine-induced haemolysis. The risk of such an outcome varies widely among G6PD gene variants.MethodsA literature review was conducted to identify surveys of G6PD variant frequencies among representative population groups. Informative surveys were assembled into two map series: (1) those showing the relative proportions of the different variants among G6PDd individuals; and (2) those showing allele frequencies of G6PD variants based on population surveys without prior G6PDd screening.ResultsVariants showed conspicuous geographic patterns. A limited repertoire of variants was tested for across sub-Saharan Africa, which nevertheless indicated low genetic heterogeneity predominated by the G6PD A- 202A mutation, though other mutations were common in western Africa. The severe G6PD Mediterranean variant was widespread across western Asia. Further east, a sharp shift in variants was identified, with high variant heterogeneity in the populations of China and the Asia-Pacific where no single variant dominated.ConclusionsG6PD variants exhibited distinctive region-specific distributions with important primaquine policy implications. Relative homogeneity in the Americas, Africa, and western Asia contrasted sharply with the heterogeneity of variants in China, Southeast Asia and Oceania. These findings will inform rational risk assessments for primaquine in developing public health strategies for malaria control and elimination, and support the future development of regionally targeted policies. The major knowledge gaps highlighted here strongly advocate for further investigation of G6PD variant diversity and their primaquine-sensitivity phenotypes.

show abstract

Section: Discussionmentioning

confidence: 99%

Spatial distribution of G6PD deficiency variants across malaria-endemic regions

Howes

Dewi

Piel

et al. 2013

Malar J

141

162

View full text Add to dashboard Cite

show abstract

“…G6PD deficiency of red blood cells is a health problem in developing countries, causing neonatal jaundice and, depending on the individual degree of deficiency, chronic haemolytic anaemia and haemolytic attacks after the ingestion of certain oxidants (Galiano et al 1990;Luzzatto & Mehta 1995). The significance of G6PD A Ϫ deficiency in subclinical haemolysis is, however, unclear.…”

Section: Introductionmentioning

confidence: 99%

Red cell glucose‐6‐phosphate dehydrogenase status and pyruvate kinase activity in a Nigerian population

May

Meyer

Grossterlinden

et al. 2000

Tropical Med Int Health

View full text Add to dashboard Cite

Glucose-6-phosphate dehydrogenase A- (G6PD A-) deficiency is a common enzymopathy in Africa that sporadically leads to manifest haemolytic anaemia. It is not exactly known how far the haematological status of individuals with either homozygous or heterozygous G6PD A- deficiency differs from that of individuals with normal G6PD activity. In a field study in Nigeria, we determined G6PD gene variants, the corresponding G6PD and pyruvate kinase (PK) activities, and basic haematological parameters in clinically healthy individuals, who were, in part, asymptomatically infected by malaria parasites. Red blood cell counts and haemoglobin levels were lower in G6PD A- deficient than in G6PD normal subjects. PK activities were higher in G6PD deficients, indicating a younger red cell population in these individuals. These findings suggest that G6PD A- deficiency is accompanied by chronic subclinical haemolysis. As a consequence, the reduced life span of red cells leads to an impaired diagnosis of G6PD heterozygosity when applying routine biochemical methods.

show abstract

“…46 However, it became clear subsequently that this statement was incorrect: subjects with G6PD AϪ can develop severe favism. [48][49][50] Despite numerous case reports of severe hemolysis occurring after oxidative challenge in patients with G6PD AϪ, the notion that the clinical implications of G6PD AϪ are generally mild has persisted. It is evident from this analysis that patients with G6PD AϪ are at risk of a serious hemolytic attack whenever the trigger is powerful enough.…”

Section: Severe Hemolytic Anemia In G6pd A؊mentioning

confidence: 99%

Clinical spectrum and severity of hemolytic anemia in glucose 6-phosphate dehydrogenase–deficient children receiving dapsone

Pamba

Richardson²,

Carter

et al. 2012

Blood

111

View full text Add to dashboard Cite

Drug-induced acute hemolytic anemia led to the discovery of G6PD deficiency. However, most clinical data are from isolated case reports. In 2 clinical trials of antimalarial preparations containing dapsone (4,4-diaminodiphenylsulfone; 2.5 mg/kg once daily for 3 days), 95 G6PD-deficient hemizygous boys, 24 G6PD-deficient homozygous girls, and 200 girls heterozygous for G6PD deficiency received this agent. In the first 2 groups, there was a maximum decrease in hemoglobin averaging ؊2.64 g/dL (range ؊6.70 to ؉0.30 g/dL), which was significantly greater than for the comparator group receiving artemether-lumefantrine (adjusted difference ؊1.46 g/dL; 95% confidence interval ؊1.76, ؊1.15).

show abstract

Favism in the African type of glucose-6-phosphate dehydrogenase deficiency (A-).

Cited by 36 publications

References 2 publications

Spatial distribution of G6PD deficiency variants across malaria-endemic regions

Spatial distribution of G6PD deficiency variants across malaria-endemic regions

Red cell glucose‐6‐phosphate dehydrogenase status and pyruvate kinase activity in a Nigerian population

Clinical spectrum and severity of hemolytic anemia in glucose 6-phosphate dehydrogenase–deficient children receiving dapsone

Contact Info

Product

Resources

About