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1.
Pan Afr Med J ; 30: 224, 2018.
Artigo em Francês | MEDLINE | ID: mdl-30574242

RESUMO

Introduction: We conducted a cross-sectional descriptive study aiming to identify risk factors associated with G6PD deficiency, its frequency and geographic distribution in Nouakchott, in order to provide useful informations to monitor it. As this disease has never previously been studied in Mauritania, we tried to define the epidemiological profile and the burden of morbidity related to G6PD deficiency in a newborn population in two health structures in the city of Nouakchott. Methods: This study was conducted in two hospitals in Nouakchott, at the Maternity and Infant Hospital and at the Health Center in Sebkha between August and October 2015. A sampling of 523 newborns having different sexes was enrolled in the study. Screening was based on BinaxNow G6PD test, followed by quantitative confirmation in positive patients. Statistical analysis was performed using SPSS20. Results: G6PD deficiency was higher in male newborns (15% vs 7% p = 0.007) and, in particular, in black children (15% vs 8% p = 0.001). The prevalence of G6PD deficiency in the study population was 11.09% (58/523). Conclusion: To our knowledge, this is the first study on G6PD deficiency in the Mauritanian population. It provides important informations on the epidemiological features of G6PD deficiency in the region of Nouakchott. A degree of variability exists in the occurrence of G6PD deficiency in the ethnic groups.


Assuntos
Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Triagem Neonatal/métodos , Grupo com Ancestrais do Continente Africano/estatística & dados numéricos , Estudos Transversais , Feminino , Deficiência de Glucosefosfato Desidrogenase/etnologia , Deficiência de Glucosefosfato Desidrogenase/etiologia , Humanos , Recém-Nascido , Masculino , Mauritânia/epidemiologia , Prevalência , Fatores de Risco , Fatores Sexuais
2.
PLoS One ; 13(5): e0196716, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29738562

RESUMO

INTRODUCTION: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymopathy in the human population affecting an estimated 8% of the world population, especially those living in areas of past and present malaria endemicity. Decreased G6PD enzymatic activity is associated with drug-induced hemolysis and increased risk of severe neonatal hyperbilirubinemia leading to brain damage. The G6PD gene is on the X chromosome therefore mutations cause enzymatic deficiency in hemizygote males and homozygote females while the majority of heterozygous females have an intermediate activity (between 30-80% of normal) with a large distribution into the range of deficiency and normality. Current G6PD qualitative tests are unable to diagnose G6PD intermediate activities which could hinder wide use of 8-aminoquinolines for Plasmodium vivax elimination. The aim of the study was to assess the diagnostic performances of the new Carestart G6PD quantitative biosensor. METHODS: A total of 150 samples of venous blood with G6PD deficient, intermediate and normal phenotypes were collected among healthy volunteers living along the north-western Thailand-Myanmar border. Samples were analyzed by complete blood count, by gold standard spectrophotometric assay using Trinity kits and by the latest model of Carestart G6PD biosensor which analyzes both G6PD and hemoglobin. RESULTS: Bland-Altman comparison of the CareStart normalized G6PD values to that of the gold standard assay showed a strong bias in values resulting in poor area under-the-curve values for both 30% and 80% thresholds. Performing a receiver operator curve identified threshold values for the CareStart product equivalent to the 30% and 80% gold standard values with good sensitivity and specificity values, 100% and 92% (for 30% G6PD activity) and 92% and 94% (for 80% activity) respectively. CONCLUSION: The Carestart G6PD biosensor represents a significant improvement for quantitative diagnosis of G6PD deficiency over previous versions. Further improvements and validation studies are required to assess its utility for informing radical cure decisions in malaria endemic settings.


Assuntos
Técnicas Biossensoriais , Ensaios Enzimáticos Clínicos/instrumentação , Deficiência de Glucosefosfato Desidrogenase/diagnóstico , Glucosefosfato Desidrogenase/sangue , Sistemas Automatizados de Assistência Junto ao Leito , Adulto , Aminoquinolinas/efeitos adversos , Aminoquinolinas/uso terapêutico , Antimaláricos/efeitos adversos , Antimaláricos/uso terapêutico , Área Sob a Curva , Doenças Endêmicas , Grupos Étnicos/genética , Feminino , Genótipo , Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Deficiência de Glucosefosfato Desidrogenase/etnologia , Deficiência de Glucosefosfato Desidrogenase/genética , Hemoglobinometria , Humanos , Malária Vivax/tratamento farmacológico , Malária Vivax/epidemiologia , Masculino , Metemoglobinemia/induzido quimicamente , Metemoglobinemia/genética , Metemoglobinemia/prevenção & controle , Mianmar/epidemiologia , Gravidez , Complicações Hematológicas na Gravidez/diagnóstico , Complicações Hematológicas na Gravidez/epidemiologia , Primaquina/efeitos adversos , Primaquina/uso terapêutico , Curva ROC , Espectrofotometria Ultravioleta
3.
Eur J Haematol ; 100(3): 294-303, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29240263

RESUMO

BACKGROUND: Medicines that exert oxidative pressure on red blood cells (RBC) can cause severe hemolysis in patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency. Due to X-chromosome inactivation, females heterozygous for G6PD with 1 allele encoding a G6PD-deficient protein and the other a normal protein produce 2 RBC populations each expressing exclusively 1 allele. The G6PD mosaic is not captured with routine G6PD tests. METHODS: An open-source software tool for G6PD cytofluorometric data interpretation is described. The tool interprets data in terms of % bright RBC, or cells with normal G6PD activity in specimens collected from 2 geographically and ethnically distinct populations, an African American cohort (USA) and a Karen and Burman ethnic cohort (Thailand) comprising 242 specimens including 89 heterozygous females. RESULTS: The tool allowed comparison of data across 2 laboratories and both populations. Hemizygous normal or deficient males and homozygous normal or deficient females cluster at narrow % bright cells with mean values of 96%, or 6% (males) and 97%, or 2% (females), respectively. Heterozygous females show a distribution of 10-85% bright cells and a mean of 50%. The distributions are associated with the severity of the G6PD mutation. CONCLUSIONS: Consistent cytofluorometric G6PD analysis facilitates interlaboratory comparison of cellular G6PD profiles and contributes to understanding primaquine-associated hemolytic risk.


Assuntos
Antimaláricos/efeitos adversos , Eritrócitos/efeitos dos fármacos , Deficiência de Glucosefosfato Desidrogenase/genética , Glucosefosfato Desidrogenase/genética , Mosaicismo , Mutação , Primaquina/efeitos adversos , Afro-Americanos , Alelos , Grupo com Ancestrais do Continente Asiático , Estudos de Casos e Controles , Contraindicações de Medicamentos , Eritrócitos/enzimologia , Eritrócitos/patologia , Feminino , Citometria de Fluxo/métodos , Regulação da Expressão Gênica , Glucosefosfato Desidrogenase/metabolismo , Deficiência de Glucosefosfato Desidrogenase/enzimologia , Deficiência de Glucosefosfato Desidrogenase/etnologia , Deficiência de Glucosefosfato Desidrogenase/patologia , Hemizigoto , Heterozigoto , Humanos , Masculino , Índice de Gravidade de Doença , Software , Tailândia , Estados Unidos
4.
Arthritis Care Res (Hoboken) ; 70(3): 481-485, 2018 03.
Artigo em Inglês | MEDLINE | ID: mdl-28556555

RESUMO

OBJECTIVE: Some sources urge caution when prescribing hydroxychloroquine (HCQ) to patients with G6PDH deficiency, presumably due to a risk of hemolytic anemia. There are limited published data, however, to support this risk. Additionally, not all patients with G6PDH deficiency are at similar risk for hemolysis, and people with the African variant are at particularly low risk. Through a retrospective chart review, we aimed to quantify the frequency of G6PDH-deficient patients with hemolysis attributed to HCQ. METHODS: We identified Duke University Medical Center rheumatology patients with HCQ use and a measured G6PDH level. A retrospective chart review was performed, recording demographics, G6PDH levels, episodes of anemia, laboratory values consistent with hemolysis, and HCQ use. RESULTS: Of the 275 patients reviewed, 84% were female; 46% were African American and 48% were white. The leading diagnoses were systemic lupus erythematosus (32%), rheumatoid arthritis (29%), and inflammatory arthritis (14%). Only 4% of patients were G6PDH deficient (all African American). Two G6PDH-deficient patients had hemolysis during severe lupus flares that occurred while not taking HCQ. There were no reported episodes of hemolysis in more than 700 months of HCQ exposure among the 11 G6PDH-deficient patients. CONCLUSION: This is the largest study to date evaluating G6PDH deficiency with concurrent use of HCQ. Of 11 patients with G6PDH deficiency, 2 had episodes of hemolysis, but these did not occur during HCQ therapy. These data do not support routine measurement of G6PDH levels or withholding HCQ therapy among African American patients with G6PDH deficiency.


Assuntos
Anemia Hemolítica/induzido quimicamente , Antirreumáticos/efeitos adversos , Deficiência de Glucosefosfato Desidrogenase/sangue , Hemólise/efeitos dos fármacos , Hidroxicloroquina/efeitos adversos , Lúpus Eritematoso Sistêmico/tratamento farmacológico , Afro-Americanos , Anemia Hemolítica/sangue , Anemia Hemolítica/diagnóstico , Anemia Hemolítica/etnologia , Tomada de Decisão Clínica , Grupo com Ancestrais do Continente Europeu , Feminino , Deficiência de Glucosefosfato Desidrogenase/diagnóstico , Deficiência de Glucosefosfato Desidrogenase/etnologia , Humanos , Lúpus Eritematoso Sistêmico/diagnóstico , Lúpus Eritematoso Sistêmico/etnologia , Masculino , North Carolina/epidemiologia , Prevalência , Estudos Retrospectivos , Fatores de Risco
5.
Acta Med Okayama ; 71(4): 325-332, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28824188

RESUMO

We conducted a survey of glucose-6-phosphate dehydrogenase (G6PD) deficiency among newborn babies at Tu Du Hospital, Ho Chi Minh, southern Vietnam. A total of 90 deficient babies were detected, including 85 in the Kinh ethnic group, 4 Chinese, and 1 in the K'Ho minority group. In the Kinh ethnic group, G6PD variants such as G6PD Viangchan (n=32), Kaiping (n=11), Canton (n=8), Chinese-5 (n=7), Union (n=5) and Quing Yuan (n=4) were detected. A variant with silent mutations at 1311 C>T and IVS11 nt 93 T>C was also detected in 17 cases. A novel mutation (173 A>G) in exon 4 with a predicted amino acid change of 58 Asp>Gly was also found in a Kinh newborn girl and her father, and it was designated as G6PD Ho Chi Minh. These findings demonstrated that the Kinh ethnic group in southern Vietnam has 8 different G6PD variants, indicating that the members of this group have many ancestors in terms of G6PD variants from Southeast Asia, China, and Oceania. We compared the frequency distribution of G6PD variants in the Kinh population with those of other Southeast Asian populations, and the Kinh population's distribution was quite similar to that in the Thai population, but differed from it by the absence of G6PD Mahidol.


Assuntos
Variação Genética/genética , Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Deficiência de Glucosefosfato Desidrogenase/genética , Glucosefosfato Desidrogenase/genética , Glucosefosfato Desidrogenase/metabolismo , Demografia , Grupos Étnicos , Deficiência de Glucosefosfato Desidrogenase/etnologia , Humanos , Vietnã/epidemiologia
6.
PLoS One ; 12(5): e0177917, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28531196

RESUMO

Glucose-6-phosphate dehydrogenase (G6PD) deficiency and hemoglobin E (HbE, ß26 Glu-Lys) are two common red cell disorders in Southeast Asia. G6PD deficiency produces hemolytic anemia, which can be triggered by certain drugs or infections. HbE is asymptomatic or is manifested as microcytic, minimally hemolytic anemia. The association between G6PD deficiency and HbE is little understood. This study aimed to investigate G6PD deficiency and HbE in a Kachin ethnic group in the China-Myanmar border area. G6PD enzyme activity was measured using a quantitative G6PD assay, G6PD variants genotyped by the SNaPshot assay, and an HbE gene mutation identified by an amplification refractory mutation system and subsequently confirmed by using a reverse dot blot hybridization assay from 100 unrelated individuals in the study area. G6PD enzyme activity ranged from 0.4 to 24.7 U/g Hb, and six males had severe G6PD deficiency (<0.12-1.2 U/g Hb), while six males and 12 females had mild G6PD deficiency (>1.2-4.5 U/g Hb). Among the 24 G6PD-deficient subjects, 22 (92%) had the Mahidol 487G>A mutation (12 male hemizygotes, one female homozygote, and nine female heterozygotes), while the G6PD genotypes in two female subjects were unknown. HbE was identified in 39 subjects (20 males and 19 females), including 15 HbEE (seven males and eight females) and 24 HbAE (13 males and 11 females). Twenty-three subjects co-inherited both G6PD deficiency and HbE (22 with HbAE and one with HbEE). Whereas mean Hb levels were not significantly different between the HbA and HbE groups, G6PD-deficient males had significantly lower Hb levels than G6PD-normal males (P < 0.05, t-test). However, it is noteworthy that two G6PD-deficient hemizygous males with HbAE were severely anemic with Hb levels below 50 g/L. This study revealed high prevalence of co-inheritance of G6PD deficiency with HbAE in the Kachin ethnicity, and a potential interaction of the G6PD Mahidol 487G>A and HbAE in males leading to severe anemia. The presence of 6% males with severe G6PD deficiency raised a major concern in the use of primaquine for radical cure of vivax malaria.


Assuntos
Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Glucosefosfato Desidrogenase/genética , Hemoglobina E/genética , Hemoglobinúria/epidemiologia , Malária/epidemiologia , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , China/epidemiologia , China/etnologia , Comorbidade , Doenças Endêmicas , Feminino , Genótipo , Glucosefosfato Desidrogenase/metabolismo , Deficiência de Glucosefosfato Desidrogenase/etnologia , Hemoglobinúria/etnologia , Humanos , Malária/etnologia , Masculino , Pessoa de Meia-Idade , Mutação , Mianmar/epidemiologia , Mianmar/etnologia , Adulto Jovem
8.
PLoS One ; 12(1): e0169930, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28121993

RESUMO

BACKGROUND: Glucose-6-phosphate-dehydrogenase-deficiency (G6PDd) is a major risk factor for primaquine-induced haemolysis. There is a need for improved point-of-care and laboratory-based G6PD diagnostics to unsure safe use of primaquine. METHODS: G6PD activities of participants in a cross-sectional survey in Bangladesh were assessed using two novel quantitative assays, the modified WST-8 test and the CareStart™ G6PD Biosensor (Access Bio), The results were compared with a gold standard UV spectrophotometry assay (Randox). The handheld CareStart™ Hb instrument (Access Bio) is designed to be a companion instrument to the CareStart™ G6PD biosensor, and its performance was compared to the well-validated HemoCue™ method. All quantitative G6PD results were normalized with the HemoCue™ result. RESULTS: A total of 1002 individuals were enrolled. The adjusted male median (AMM) derived by spectrophotometry was 7.03 U/g Hb (interquartile range (IQR): 5.38-8.69), by WST-8 was 7.03 U/g Hb (IQR: 5.22-8.16) and by Biosensor was 8.61 U/g Hb (IQR: 6.71-10.08). The AMM between spectrophotometry and WST-8 did not differ (p = 1.0) but differed significantly between spectrophotometry and Biosensor (p<0.01). Both, WST-8 and Biosensor were correlated with spectrophotometry (rs = 0.5 and rs = 0.4, both p<0.001). The mean difference in G6PD activity was -0.12 U/g Hb (95% limit of agreement (95% LoA): -5.45 to 5.20) between spectrophotometry and WST-8 and -1.74U/g Hb (95% LoA: -7.63 to 4.23) between spectrophotometry and Biosensor. The WST-8 identified 55.1% (49/89) and the Biosensor 19.1% (17/89) of individuals with G6PD activity <30% by spectrophotometry. Areas under the ROC curve did not differ significantly for the WST-8 and Biosensor irrespective of the cut-off activity applied (all p>0.05). Sensitivity and specificity for detecting G6PD activity <30% was 0.55 (95% confidence interval (95%CI): 0.44-0.66) and 0.98 (95%CI: 0.97-0.99) respectively for the WST-8 and 0.19 (95%CI: 0.12-0.29) and 0.99 (95%CI: 0.98-0.99) respectively for the Biosensor. Hb concentrations measured by HemoCue™ and CareStart™ Hb were strongly correlated (rs = 0.8, p<0.001, mean difference = 0.09 g Hb/dL, 95% LoA: -2.15 to 2.34). CONCLUSION: WST-8 and the CareStart™ G6PD Biosensor represent advances in G6PD diagnostics in resource poor settings, but will require further development before clinical deployment. The CareStart™ Hb instrument produced a precise measure of haemoglobin concentration.


Assuntos
Técnicas Biossensoriais , Colorimetria , Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Glucosefosfato Desidrogenase/sangue , Espectrofotometria Ultravioleta , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Bangladesh/epidemiologia , Técnicas Biossensoriais/instrumentação , Criança , Pré-Escolar , Colorimetria/instrumentação , Estudos Transversais , Doenças Endêmicas , Feminino , Deficiência de Glucosefosfato Desidrogenase/sangue , Deficiência de Glucosefosfato Desidrogenase/etnologia , Hemoglobinas/análise , Humanos , Malária/epidemiologia , Masculino , Pessoa de Meia-Idade , Sistemas Automatizados de Assistência Junto ao Leito , Valor Preditivo dos Testes , Curva ROC , Sensibilidade e Especificidade , Espectrofotometria Ultravioleta/instrumentação , Adulto Jovem
9.
Hemoglobin ; 40(3): 179-86, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26950205

RESUMO

Glucose-6-phosphate dehydrogenase (G6PD) deficiency and thalassemia occur frequently in tropical and subtropical regions, while the prevalence of relationship between the two diseases in Xinjiang has not been reported. We aimed to determine the prevalence of these diseases and clarify the relationship between genotypes and phenotypes of the two diseases in the Uygur and Kazak ethnic groups in Xinjiang. We measured G6PD activity by G6PD:6PGD (glucose acid-6-phosphate dehydrogenase) ratio, identified the gene variants of G6PD and α- and ß-globin genes by polymerase chain reaction (PCR)-DNA sequencing and gap-PCR and compared these variants in different ethnic groups in Xinjiang with those adjacent to it. Of the 149 subjects with molecular analysis of G6PD deficiency conducted, a higher prevalence of the combined mutations c.1311C > T/IVSXI + 93T > C and IVSXI + 93T > C, both with normal enzymatic activities, were observed in the Uygur and Kazak subjects. A case of rare mutation HBB: c.135delC [codon 44 (-C) in the heterozygous state], a heterozygous case of HBB: c.68A > G [Hb G-Taipei or ß22(B4)Glu→Gly] and several common single nucleotide polymorphisms (SNPs) were found on the ß-globin gene. In conclusion, G6PD deficiency with pathogenic mutations and three common α-thalassemia (α-thal) [- -(SEA), -α(3.7) (rightward), -α(4.2) (leftward)] deletions and point mutations of the α-globin gene were not detected in the present study. The average incidence of ß-thalassemia (ß-thal) in Uygurs was 1.45% (2/138) in Xinjiang. The polymorphisms of G6PD and ß-globin genes might be useful genetic markers to trace the origin and migration of the Uygur and Kazak in Xinjiang.


Assuntos
Deficiência de Glucosefosfato Desidrogenase/genética , Epidemiologia Molecular/métodos , Talassemia/genética , China/epidemiologia , China/etnologia , Frequência do Gene , Estudos de Associação Genética , Variação Genética/genética , Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Deficiência de Glucosefosfato Desidrogenase/etnologia , Humanos , Mutação , Polimorfismo de Nucleotídeo Único , Talassemia/epidemiologia , Talassemia/etnologia , alfa-Globinas/genética , Globinas beta/genética
10.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 33(1): 26-9, 2016 Feb.
Artigo em Chinês | MEDLINE | ID: mdl-26829728

RESUMO

OBJECTIVE: To determine the incidence and molecular characteristics of G6PD deficiency in Chaozhou region of eastern Guangdong Province. METHODS: G6PD enzyme activity was assayed with an auto-bioanalyzer. Reverse dot blotting (RDB) was used for detecting 6 common G6PD mutations. Samples with no mutation detected by RDB were further sequenced for unknown mutations. RESULTS: The rate of G6PD deficiency was 3.36% (142/4224). 2.33% (47/2013) of males and 4.3% (95/2208) of females were affected. 12 mutations were detected among the 142 patients, which included c.1376G>T, c.1388G>A, c.1024C>T, c.392G>T, c.871G>A, c.95A>G, c.517T>C, c.131C>G, c.1376G>T/c.517T>C, c.871G>A/IVS-1193T>C/c.1311C>T, c.1376G>T/IVS-11, 93T>C/c.1311C>T and c.1376G>T/c.486_34delT (rs3216174). CONCLUSION: The incidence of G6PD deficiency in Chaozhou region was lower than that of the Hakka population of Guangdong Province, and the mutation types were diversely distributed in this region. c.1376G>T, c.1388G>A and c.1024C>T were the most common mutations, which was followed by c.517T>C. In addition, c.131C>G has been first discovered in the Chinese population. c.1376G>T/c.517T>C and c.1376G>T/c.486_34delT(rs3216174) were new types of compound heterozygous mutations in females.


Assuntos
Deficiência de Glucosefosfato Desidrogenase/enzimologia , Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Adolescente , Sequência de Bases , China/epidemiologia , China/etnologia , Feminino , Genótipo , Glucosefosfato Desidrogenase/genética , Deficiência de Glucosefosfato Desidrogenase/etnologia , Deficiência de Glucosefosfato Desidrogenase/genética , Humanos , Incidência , Masculino , Epidemiologia Molecular , Dados de Sequência Molecular , Mutação
11.
J Pediatr Hematol Oncol ; 37(8): 595-9, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26422283

RESUMO

BACKGROUND: Hemoglobinopathies are associated with significant morbidity and mortality. Accurate epidemiologic data reflecting the number of hemoglobinopathy patients are lacking in Canada. Immigration patterns are shifting such that regions where these diseases were rare are seeing a rapid population expansion, revealing a gap in the health care system and the need for a public health response. METHODS: To understand the epidemiology of pediatric hemoglobinopathy patients given the provincial population growth and immigration patterns, a retrospective chart review was conducted at the Stollery Children's Hospital from January 2004 to July 2014. RESULTS: A total of 88% of patients had sickle cell disease; 55% of patients were Canadian born and 63% of families originated from Africa. There was a 3.5-fold increase in patient numbers with acceleration in patient accrual over the study period and a delay in diagnosis in 70% of patients. There was a significant increase in the number of hospitalizations over the study period. Thirteen percent required at least 1 exchange transfusion, 16% received chronic transfusions, and 30% of patients developed at least 1 severe complication related to their diagnosis. CONCLUSIONS: It is imperative to demonstrate the growing hemoglobinopathy population and changing health care requirements to advocate for appropriate resources, educate health care providers, and increase awareness.


Assuntos
Anemia Falciforme/epidemiologia , Talassemia/epidemiologia , Síndrome Torácica Aguda/epidemiologia , Síndrome Torácica Aguda/etiologia , Adolescente , África/etnologia , Alberta/epidemiologia , Anemia Falciforme/complicações , Anemia Falciforme/etnologia , Anemia Falciforme/terapia , Ásia/etnologia , Transfusão de Sangue/estatística & dados numéricos , Região do Caribe/etnologia , Criança , Pré-Escolar , Emigrantes e Imigrantes/estatística & dados numéricos , Feminino , Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Deficiência de Glucosefosfato Desidrogenase/etnologia , Recursos em Saúde/provisão & distribução , Recursos em Saúde/tendências , Necessidades e Demandas de Serviços de Saúde , Hematologia/organização & administração , Hospitalização/estatística & dados numéricos , Hospitais Pediátricos/estatística & dados numéricos , Humanos , Lactente , Recém-Nascido , Sobrecarga de Ferro/epidemiologia , Sobrecarga de Ferro/etiologia , Masculino , Morbidade/tendências , Ambulatório Hospitalar/estatística & dados numéricos , Estudos Retrospectivos , Acidente Vascular Cerebral/epidemiologia , Acidente Vascular Cerebral/etiologia , Talassemia/complicações , Talassemia/etnologia , Talassemia/terapia , Reação Transfusional
12.
J Pediatr Hematol Oncol ; 37(8): e497-9, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26479991

RESUMO

We report a term male infant born to parents of Danish descent, who on the second day of life developed jaundice peaking at 67 hours and decreasing on applied double-sided phototherapy. In the weeks following, the infant showed signs of ongoing hemolysis. Laboratory tests showed very low glucose-6-phosphate dehydrogenase (G6PD) enzymatic activity, and sequencing of the G6PD gene revealed a previously uncharacterized missense mutation c. 592 C>A (Arg198Ser). Oral DNA from the infant had the same G6PD mutation, suggesting a spontaneous maternal germline mutation as the mutation was not observed in leukocytes from the mother.


Assuntos
Deficiência de Glucosefosfato Desidrogenase/genética , Glucosefosfato Desidrogenase/genética , Mutação de Sentido Incorreto , Mutação Puntual , Substituição de Aminoácidos , Dinamarca , Grupo com Ancestrais do Continente Europeu/genética , Mutação em Linhagem Germinativa , Glucosefosfato Desidrogenase/química , Deficiência de Glucosefosfato Desidrogenase/complicações , Deficiência de Glucosefosfato Desidrogenase/diagnóstico , Deficiência de Glucosefosfato Desidrogenase/etnologia , Humanos , Icterícia Neonatal/etiologia , Masculino , Análise de Sequência de DNA
13.
Malar J ; 13: 270, 2014 Jul 11.
Artigo em Inglês | MEDLINE | ID: mdl-25015414

RESUMO

BACKGROUND: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is associated with protection from severe malaria, and potentially uncomplicated malaria phenotypes. It has been documented that G6PD deficiency in sub-Saharan Africa is due to the 202A/376G G6PD A-allele, and association studies have used genotyping as a convenient technique for epidemiological studies. However, recent studies have shown discrepancies in G6PD202/376 associations with severe malaria. There is evidence to suggest that other G6PD deficiency alleles may be common in some regions of West Africa, and that allelic heterogeneity could explain these discrepancies. METHODS: A cross-sectional epidemiological study of malaria susceptibility was conducted during 2006 and 2007 in the Sahel meso-endemic malaria zone of Mali. The study included Dogon (n = 375) and Fulani (n = 337) sympatric ethnic groups, where the latter group is characterized by lower susceptibility to Plasmodium falciparum malaria. Fifty-three G6PD polymorphisms, including 202/376, were genotyped across the 712 samples. Evidence of association of these G6PD polymorphisms and mild malaria was assessed in both ethnic groups using genotypic and haplotypic statistical tests. RESULTS: It was confirmed that the Fulani are less susceptible to malaria, and the 202A mutation is rare in this group (<1% versus Dogon 7.9%). The Betica-Selma 968C/376G (~11% enzymatic activity) was more common in Fulani (6.1% vs Dogon 0.0%). There are differences in haplotype frequencies between Dogon and Fulani, and association analysis did not reveal strong evidence of protective G6PD genetic effects against uncomplicated malaria in both ethnic groups and gender. However, there was some evidence of increased risk of mild malaria in Dogon with the 202A mutation, attaining borderline statistical significance in females. The rs915942 polymorphism was found to be associated with asymptomatic malaria in Dogon females, and the rs61042368 polymorphism was associated with clinical malaria in Fulani males. CONCLUSIONS: The results highlight the need to consider markers in addition to G6PD202 in studies of deficiency. Further, large genetic epidemiological studies of multi-ethnic groups in West Africa across a spectrum of malaria severity phenotypes are required to establish who receives protection from G6PD deficiency.


Assuntos
Doenças Endêmicas , Grupos Étnicos/genética , Deficiência de Glucosefosfato Desidrogenase/genética , Glucosefosfato Desidrogenase/genética , Malária Falciparum/genética , Polimorfismo Genético , Adulto , Alelos , Criança , Estudos Transversais , Resistência à Doença/genética , Feminino , Seguimentos , Estudos de Associação Genética , Predisposição Genética para Doença/genética , Genótipo , Deficiência de Glucosefosfato Desidrogenase/etnologia , Haplótipos/genética , Interações Hospedeiro-Parasita , Humanos , Desequilíbrio de Ligação , Malária Falciparum/epidemiologia , Malária Falciparum/etnologia , Masculino , Polimorfismo de Nucleotídeo Único , População Rural , Estações do Ano , Esplenomegalia/etiologia
14.
Artigo em Inglês | MEDLINE | ID: mdl-24964669

RESUMO

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common inherited enzymopathies in endemic areas of malaria including Southeast Asia. The molecular features of G6PD deficiency are similar among Southeast Asian population, with differences in the type of the prominent variants in each region. This study determined the prevalence and molecular characteristics of G6PD deficiency in northern Thailand. Quantitative assay of G6PD activity was conducted in 566 neonatal cord blood samples and 6 common G6PD mutations were determined by PCR-restriction fragment length polymorphism method on G6PD complete and intermediate deficiency samples. Ninety newborns had G6PD deficiency, with prevalence in male newborns of 17% and that of female newborns having an intermediate and complete deficiency of 13% and 2%, respectively. From 95 G6PD alleles tested, G6PD Mahidol, G6PD Kaiping, G6PD Canton, G6PD Viangchan, G6PD Union, and G6PD Chinese-5 was detected in 19, 17, 15, 13, 7, and 2 alleles, respectively. Our study shows that the prevalence of G6PD deficiency in northern Thai population is high and combination of the common Chinese mutations is the majority, a distribution different from central and southern Thailand where G6PD Viangchan is the prominent variant. These findings suggest a higher proportion of assimilated Chinese ethnic group in the northern Thai population.


Assuntos
Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Deficiência de Glucosefosfato Desidrogenase/genética , Alelos , Feminino , Deficiência de Glucosefosfato Desidrogenase/etnologia , Humanos , Recém-Nascido , Masculino , Mutação , Triagem Neonatal , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , Prevalência , Tailândia/epidemiologia
15.
J Pediatr ; 164(6): 1416-20, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24679610

RESUMO

OBJECTIVE: To define normal levels of glucose-6-phosphate dehydrogenase (G6PD) activity in a population of North American white newborns. STUDY DESIGN: We studied 2 white newborn populations, ≥35 weeks of gestation. In the retrospective study, G6PD activity was measured (on clinical indication) in 242 newborns aged ≤7 days. In the prospective study, we measured G6PD activity in umbilical cord blood samples in 347 newborns and daily transcutaneous bilirubin levels in these infants. RESULTS: The mean G6PD activity level was 12.3 ± 3.1 units per gram hemoglobin (U/gHb) in the retrospective population and 13.3 ± 1.8 U/gHb in the prospective population, and there was no difference between males and females. The distribution of values suggested that infants with activity levels <7 U/gHb should be considered deficient and 8 infants (6 males and 2 females), all in the retrospective population had such levels. CONCLUSIONS: As in other ethnic populations, the mean G6PD activity in white newborn infants is substantially greater than that of white adults. The lower limits of normal are also similar to those of other newborn ethnic groups and of adults. The diagnosis of G6PD deficiency should be considered in any white infant whose G6PD activity is <7 U/gHb.


Assuntos
Grupo com Ancestrais do Continente Europeu , Deficiência de Glucosefosfato Desidrogenase/diagnóstico , Deficiência de Glucosefosfato Desidrogenase/etnologia , Glucosefosfato Desidrogenase/sangue , Triagem Neonatal/métodos , Bilirrubina/sangue , Feminino , Humanos , Recém-Nascido , Masculino , Estudos Prospectivos , Valores de Referência , Estudos Retrospectivos , Sensibilidade e Especificidade
16.
Pediatr Hematol Oncol ; 31(1): 95-100, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-24483842

RESUMO

PURPOSE: G6PD enzyme deficiency is one of the most prevalent genetic disorders worldwide and it has high incidence rate in Northern provinces of Iran. It was observed that national neonatal screening for G6PD enzyme deficiency fails to detect all affected infants. In order to clarify the cause, this study has been done in Thalassemia Research Center, Sari, Iran. MATERIALS AND METHODS: This was a diagnostic study. The newborns with parents of Mazandarani origin were enrolled. Cord blood from the placental side was collected and used for decolorization test, quantitative enzyme assay (QEA) and DNA study. A heel-prick sample collected on day 3-5 after birth was used for fluorescent spot test (FST). In male cases, QEA was considered as the gold standard. For females, DNA study was considered as the gold standard. Based on QEA test results, neonates with <20% and 20-60% of mean normal enzyme activity were considered as total deficient and partial deficient, respectively. RESULTS: A total of 365 neonates (52.3% females and 47.7% males) were studied. According to FST, 13 male newborns had G6PD deficiency. No deficient female was detected. Decolorization test diagnosed 18 male and one female as G6PD deficient newborns. QEA diagnosed 19 males and 28 females with G6PD enzyme deficiency (26 partial, 2 total deficient cases). DNA analysis detected 14 males as hemizygote and 34 females as heterozygote. CONCLUSION: FST does not have the required sensitivity for newborn screening and QEA is recommended as the preferred method.


Assuntos
Erros de Diagnóstico , Sangue Fetal/enzimologia , Deficiência de Glucosefosfato Desidrogenase/diagnóstico , Programas Nacionais de Saúde , Triagem Neonatal , Colorimetria , Análise Mutacional de DNA , Grupos Étnicos/genética , Reações Falso-Negativas , Feminino , Glucosefosfato Desidrogenase/sangue , Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Deficiência de Glucosefosfato Desidrogenase/etnologia , Humanos , Incidência , Recém-Nascido , Irã (Geográfico)/epidemiologia , Masculino , Triagem Neonatal/organização & administração , Oxirredução , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , Valor Preditivo dos Testes , Avaliação de Programas e Projetos de Saúde , Kit de Reagentes para Diagnóstico , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
17.
East Mediterr Health J ; 20(11): 726-31, 2014 Dec 17.
Artigo em Inglês | MEDLINE | ID: mdl-25601811

RESUMO

This study investigated the prevalence of iron-deficiency anaemia, glucose-6-phosphate dehydrogenase (G6PD) deficiency and ß-thalassaemia trait among Arab migrating nomad children in southern Islamic Republic of Iran. Blood samples were analysed from 134 schoolchildren aged < 18 years (51 males, 83 females). Low serum ferritin (< 12 ng/dL) was present in 17.9% of children (21.7% in females and 11.8% in males). Low haemoglobin (Hb) correlated significantly with a low serum ferritin. Only 1 child had G6PD deficiency. A total of 9.7% of children had HbA2 ≥ 3.5 g/dL, indicating ß-thalassaemia trait (10.8% in females and 7.8% in males). Mean serum iron, serum ferritin and total iron binding capacity were similar in males and females. Serum ferritin index was as accurate as Hb index in the diagnosis of iron-deficiency anaemia. A high prevalence of ß-thalassaemia trait was the major potential risk factor in this population.


Assuntos
Anemia Ferropriva/etnologia , Deficiência de Glucosefosfato Desidrogenase/etnologia , Migrantes/estatística & dados numéricos , Talassemia beta/etnologia , Adolescente , Anemia Ferropriva/sangue , Anemia Ferropriva/etiologia , Anorexia/complicações , Árabes/estatística & dados numéricos , Criança , Estudos Transversais , Feminino , Ferritinas/sangue , Predisposição Genética para Doença , Deficiência de Glucosefosfato Desidrogenase/sangue , Deficiência de Glucosefosfato Desidrogenase/etiologia , Hemoglobina A2/análise , Humanos , Irã (Geográfico)/epidemiologia , Ferro/sangue , Masculino , Pica/complicações , Prevalência , Fatores de Risco , Abastecimento de Água/normas , Talassemia beta/sangue , Talassemia beta/etiologia
18.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 30(2): 189-94, 2013 Apr.
Artigo em Chinês | MEDLINE | ID: mdl-23568733

RESUMO

OBJECTIVE: To investigate the epidemiological status of glucose-6-phosphate dehydrogenase (G6PD) deficiency among children from Yunnan with unique ethnic origins. METHODS: DNA samples from 11759 children were tested with fluorescent spot test, G6PD/6PGD quantitative ratio assay and hemoglobin electrophoresis. RESULTS: The detection rate of G6PD deficiency was 2.5%, for which boys were significantly greater than girls (3.5% vs. 1.4%, P<0.05). Significant differences were also detected among children from different ethnic groups and different regions. For ethnic Han Chinese, the detection rate was 0.7%, which was lower than the majority of ethnic minorities. By regression analysis, altitude of residence and family history both have significant influence on the calculated rate. CONCLUSION: Occurrence of G6PD deficiency seems to be influenced by gender. It also varies substantially between different ethnic groups as well as regions, e.g., more common in south. It also showed a declining trend after years of diagnosis and intervention. This survey may provide a valuable basis for counseling of G6PD deficiency in Yunnan.


Assuntos
Deficiência de Glucosefosfato Desidrogenase/etnologia , Criança , Pré-Escolar , China/etnologia , Feminino , Deficiência de Glucosefosfato Desidrogenase/genética , Humanos , Lactente , Recém-Nascido , Modelos Logísticos , Masculino
19.
J Perinatol ; 33(7): 499-504, 2013 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-23429543

RESUMO

Glucose-6-phosphate dehydrogenase (G6PD) deficiency, a common X-linked enzymopathy can lead to severe hyperbilirubinemia, acute bilirubin encephalopathy and kernicterus in the United States. Neonatal testing for G6PD deficiency is not yet routine and the American Academy of Pediatrics recommends testing only in jaundiced newborns who are receiving phototherapy whose family history, ethnicity, or geographic origin suggest risk for the condition, or for infants whose response to phototherapy is poor. Screening tests for G6PD deficiency are available, are suitable for use in newborns and have been used in birth hospitals. However, US birth hospitals experience is limited and no national consensus has emerged regarding the need for newborn G6PD testing, its effectiveness or the best approach. Our review of current state of G6PD deficiency screening highlights research gaps and informs specific operational challenges to implement universal newborn G6PD testing concurrent to bilirubin screening in the United States.


Assuntos
Deficiência de Glucosefosfato Desidrogenase/diagnóstico , Triagem Neonatal/estatística & dados numéricos , Afro-Americanos/estatística & dados numéricos , Eritroblastose Fetal/diagnóstico , Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Deficiência de Glucosefosfato Desidrogenase/etnologia , Humanos , Hiperbilirrubinemia Neonatal/diagnóstico , Hiperbilirrubinemia Neonatal/epidemiologia , Hiperbilirrubinemia Neonatal/prevenção & controle , Recém-Nascido , Kernicterus/prevenção & controle , Triagem Neonatal/métodos , Educação de Pacientes como Assunto , Reprodutibilidade dos Testes , Medição de Risco , Estados Unidos/epidemiologia
20.
Blood Cells Mol Dis ; 50(2): 110-4, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-22963789

RESUMO

We screened 423 patients referred to our laboratory after hemolysis triggered by fava beans ingestion, neonatal jaundice or drug hemolysis. Others were asymptomatic but belonged to a family with a history of G6PD deficiency. The determination of enzymatic activity using spectrophotometric method, revealed 293 deficient (143 males and 150 females). The molecular analysis was performed by a combination of PCR-RFLP and DNA sequencing to characterize the mutations causing G6PD deficiency. 14 different genotypes have been identified : G6PD A(-) (376A>G;202G>A) (46.07%) and G6PD Med (33.10%) were the most common variants followed by G6PD Santamaria (5.80%), G6PD Kaiping (3.75%), the association [c.1311T and IVS11 93c] (3.75%), G6PD Chatham (2.04%), G6PD Aures (1.70%), G6PD A(-) Betica (0.68%), the association [ 376G;c.1311T;IVS11 93c] (0.68%), G6PD Malaga, G6PD Canton and G6PD Abeno respectively (0.34%). Two novel missense mutations were identified (c.920A>C: p.307Gln>Pro and c.968T>C: p.323 Leu>Pro). We designated these two class III variants as G6PD Tunis and G6PD Nefza. A mechanism which could account for the defective activity is discussed.


Assuntos
Deficiência de Glucosefosfato Desidrogenase/genética , Glucosefosfato Desidrogenase/genética , Adolescente , Adulto , Éxons/genética , Favismo/etiologia , Feminino , Frequência do Gene , Genótipo , Glucosefosfato Desidrogenase/química , Deficiência de Glucosefosfato Desidrogenase/complicações , Deficiência de Glucosefosfato Desidrogenase/etnologia , Humanos , Recém-Nascido , Icterícia Neonatal/etiologia , Masculino , Metemoglobinemia/etiologia , Pessoa de Meia-Idade , Modelos Moleculares , Mutação de Sentido Incorreto , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , Estrutura Secundária de Proteína , Análise de Sequência de DNA , Tunísia/epidemiologia
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