Molecular Heterogeneity of Glucose-6-Phosphate Dehydrogenase Deficiency in Burkina Faso: G-6-Pd Betica Selma and Santamaria in People With Symptomatic Malaria in Ouagadougou

Ouattara, Abdoul Karim; Yaméogo, Pouiré; Diarra, Birama; Obiri‐Yeboah, Dorcas; Yonli, Albert Théophane; Compaoré, Tegwinde Rebeca; Soubeïga, Serge Théophile; Djigma, Florencia Wendkuuni

doi:10.4084/mjhid.2016.029

Cited by 10 publications

(21 citation statements)

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“… a = Carter et al, [ 27 ]; b = Ouattara et al, [ 14 ]; c = Ouattara et al, [ 28 ]. The data in this table come from these three references ( a , b and c ) with information allowing the calculation of the different haplotypes.…”

Section: Resultsmentioning

confidence: 99%

“…In the latter study, the lowest frequency (0.069) of this variant was observed among the Fulani compared to the Mossi and the Rimaibe (0.19). However, Santamaria (376G/542T) and Betica Selma (376G/968C) variants were identified in the study carried out by Ouattara et al [ 28 ]. G-6-PD genotypes and B, A and A- alleles frequencies are shown in Table 2 .…”

Section: Resultsmentioning

confidence: 99%

“…These few studies cited with various methodologies [ 28 , 34 , 35 ] however, do not cover the whole national territory (Fig. 2 ).…”

Section: Discussionmentioning

confidence: 99%

“…For example, in the enzymatic studies which were the object of this systematic review, it was noted as a diagnostic technique for G-6-PD deficiency detection: the modified paper fluorescence test (NFP Test) [ 34 ], the BinaxNOW G-6-PD test [ 35 ], or spectrophotometric assay of enzymatic activity [ 36 ]. Genotyping studies are also limited by the phenotypic status of deficient heterozygous women, which are not taken into account in the prevalence of G-6-PD deficiency [ 14 , 28 ].

Fig.…”

Section: Discussionmentioning

confidence: 99%

“…Confidence Intervals were calculated using the R software version 3.3.3. The haplotypic frequencies of G-6-PD B, A and A- variants were calculated from data from three studies [ 14 , 27 , 28 ]. The populations of these three studies were conform to Hardy-Weinberg equilibrium and these data were used for Inverse Distance weighted (IDW) interpolation of G-6-PD deficiency allele frequency in Burkina Faso using QGIS 2.18.14 software.…”

Section: Methodsmentioning

confidence: 99%

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Prevalence, genetic variants and clinical implications of G-6-PD deficiency in Burkina Faso: a systematic review

et al. 2017

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BackgroundIt is now well-known that some antimalarials such as primaquine may induce severe hemolytic anemia in people with G-6-PD deficiency. Antimalarial drug prescriptions must, therefore take into account the patient’s G-6-PD status in malaria endemic areas such as Burkina Faso, where the prevalence of this genetic abnormality is relatively high. Although great clinical heterogeneity is observed depending on the molecular nature of the deficiency and the residual enzyme activity in the red blood cell, there is very poor data on the prevalence of G-6-PD deficiency and the distribution of involved genetic variants in Burkina Faso. In this systematic review, we present a synthesis of the various studies carried out on the G-6-PD deficiency in Burkina Faso in order to determine its prevalence, probable distribution of the genetic variants involved and their clinical implications for a national systematic screening policy among the groups most vulnerable to malaria.MethodsA systematic review was carried out to analyze available published data on the prevalence, phenotypes and mutations responsible for G-6-PD deficiency in Burkina Faso. The key words used were “G-6-PD deficiency AND Burkina Faso” or “Déficit en G-6-PD AND Burkina Faso” in French. To identify the relevant articles, two independent reviewers reviewed the titles, abstracts and the full text of the selected papers.ResultsAn average prevalence of 16.6% (183/1100; CI 95%: 0.145–0.190) and 6.5% (69/1066; CI 95%: 0.051–0.081) of G-6-PD deficiency was found respectively in men and women in this systematic review. Although the predominance (99.8% of G-6-PD deficient cases) of 202A/376G G-6-PD A- variant, the Santamaria and Betica Selma variants were identified in Burkina Faso. Independently of the method used, the enzymatic deficiency was significantly higher in males (2.5–20.5%) compared to females (3.3–12.3%).ConclusionThis systematic review suggests that despite the ubiquity of the 202A/376G G-6-PD A- variant in Burkina Faso, it will be necessary to consider the Santamaria and Betica Selma variants although their frequencies remain to be specified. A systematic screening of the G-6-PD deficiency is also needed to prevent the occurrence of iatrogenic hemolytic accidents.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

“…These few studies cited with various methodologies [ 28 , 34 , 35 ] however, do not cover the whole national territory (Fig. 2 ).…”

Section: Discussionmentioning

confidence: 99%

Fig.…”

Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

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Prevalence, genetic variants and clinical implications of G-6-PD deficiency in Burkina Faso: a systematic review

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Genetic Background of the Sickle Cell Disease Pediatric Population of Dakar, Senegal, and Characterization of a Novel Frameshift β-Thalassemia Mutation [HBB: c.265_266del; p.Leu89Glufs*2]

et al. 2017

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Sickle cell disease is a genetic disorder with a large variability in the pattern and severity of clinical manifestations. Different genetic modulators have been identified but very few epidemiologic data are available on these modifier genes in Senegal. This study aimed to determine their prevalence in a Senegalese sickle cell disease pediatric population. The following genetic parameters were genotyped in 295 sickle cell disease children of the Dakar pediatric hospital: sickle cell disease genotype [β/β (HBB: c.20A>T), β/β (HBB: c.19G>A), β/β-thalassemia (β-thal)], XmnI polymorphism, the five most common α-thalassemia (α-thal) deletions and the A(-) and Betica glucose-6-phosphate-dehydrogenase (G6PD) deficient variants. Despite very few β/β and β/β-thal children (1.0% each), a novel frameshift β-thal mutation was characterized: HBB: c.265_266del; p.Leu89Glufs*2. The -α (rightward) deletion was the only α-thal deletion identified in this cohort (12.0% allelic frequency). Most of β/β patients (61.9%) were homozygous for the XmnI polymorphism and assumed to carry a Senegal/Senegal β haplotype. The remaining haplotypes were predominantly of the Benin type. While the Betica G6PD variant was quite frequent (13.0%), a low frequency of the A(-) variant was detected (1.0-2.0%). The systematic genotyping of the -α deletion and of the G6PD Betica variant in sickle cell disease patients from Senegal could be useful to identify patients at risk for several complications, such as cerebral vasculopathy, where it has been demonstrated that a normal α-globin genotype and G6PD deficiency are predisposing factors. These patients should be eligible for a transcranial Doppler examination that is not routinely offered in Senegal.

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Single low-dose primaquine for blocking transmission of Plasmodium falciparum malaria – a proposed model-derived age-based regimen for sub-Saharan Africa

Taylor

Naw

Maitland

et al. 2018

BMC Med

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BackgroundIn 2012, the World Health Organization recommended blocking the transmission of Plasmodium falciparum with single low-dose primaquine (SLDPQ, target dose 0.25 mg base/kg body weight), without testing for glucose-6-phosphate dehydrogenase deficiency (G6PDd), when treating patients with uncomplicated falciparum malaria. We sought to develop an age-based SLDPQ regimen that would be suitable for sub-Saharan Africa.MethodsUsing data on the anti-infectivity efficacy and tolerability of primaquine (PQ), the epidemiology of anaemia, and the risks of PQ-induced acute haemolytic anaemia (AHA) and clinically significant anaemia (CSA), we prospectively defined therapeutic-dose ranges of 0.15–0.4 mg PQ base/kg for children aged 1–5 years and 0.15–0.5 mg PQ base/kg for individuals aged ≥6 years (therapeutic indices 2.7 and 3.3, respectively). We chose 1.25 mg PQ base for infants aged 6–11 months because they have the highest rate of baseline anaemia and the highest risks of AHA and CSA. We modelled an anthropometric database of 661,979 African individuals aged ≥6 months (549,127 healthy individuals, 28,466 malaria patients and 84,386 individuals with other infections/illnesses) by the Box–Cox transformation power exponential and tested PQ doses of 1–15 mg base, selecting dosing groups based on calculated mg/kg PQ doses.ResultsFrom the Box–Cox transformation power exponential model, five age categories were selected: (i) 6–11 months (n = 39,886, 6.03%), (ii) 1–5 years (n = 261,036, 45.46%), (iii) 6–9 years (n = 20,770, 3.14%), (iv) 10–14 years (n = 12,155, 1.84%) and (v) ≥15 years (n = 328,132, 49.57%) to receive 1.25, 2.5, 5, 7.5 and 15 mg PQ base for corresponding median (1st and 99th centiles) mg/kg PQ base of: (i) 0.16 (0.12–0.25), (ii) 0.21 (0.13–0.37), (iii) 0.25 (0.16–0.38), (iv) 0.26 (0.15–0.38) and (v) 0.27 (0.17–0.40). The proportions of individuals predicted to receive optimal therapeutic PQ doses were: 73.2 (29,180/39,886), 93.7 (244,537/261,036), 99.6 (20,690/20,770), 99.4 (12,086/12,155) and 99.8% (327,620/328,132), respectively.ConclusionsWe plan to test the safety of this age-based dosing regimen in a large randomised placebo-controlled trial (ISRCTN11594437) of uncomplicated falciparum malaria in G6PDd African children aged 0.5 − 11 years. If the regimen is safe and demonstrates adequate pharmacokinetics, it should be used to support malaria elimination.Electronic supplementary materialThe online version of this article (doi:10.1186/s12916-017-0990-6) contains supplementary material, which is available to authorized users.

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Molecular Heterogeneity of Glucose-6-Phosphate Dehydrogenase Deficiency in Burkina Faso: G-6-Pd Betica Selma and Santamaria in People With Symptomatic Malaria in Ouagadougou

Cited by 10 publications

References 28 publications

Prevalence, genetic variants and clinical implications of G-6-PD deficiency in Burkina Faso: a systematic review

Prevalence, genetic variants and clinical implications of G-6-PD deficiency in Burkina Faso: a systematic review

Genetic Background of the Sickle Cell Disease Pediatric Population of Dakar, Senegal, and Characterization of a Novel Frameshift β-Thalassemia Mutation [HBB: c.265_266del; p.Leu89Glufs*2]

Single low-dose primaquine for blocking transmission of Plasmodium falciparum malaria – a proposed model-derived age-based regimen for sub-Saharan Africa

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