Social media content analysis of public and private Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency facebook groups

Background@#As social media continue to grow as popular and convenient tools for acquiring and disseminating health information, the need to investigate its utilization by laypersons encountering common medical issues becomes increasingly essential. @*Objectives@#This study aimed to analyze the content posted in Facebook groups for Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency and how these engage the members of the group. @*Methods@#This study employed an inductive content analysis of user-posted content in both public and private Facebook groups catering specifically to G6PD deficiency. The G6PD Facebook groups with 10 or more posts within the past 12 months were selected for this study. Data were harvested from posts and comments using ExportComment. @*Results@#A total of 46 G6PD-related Facebook groups were identified. Of which, 19 were public and 27 were private groups, with an average membership of 5000-6000 accounts. After eligibility based on criteria and authorization for private groups, 3 public and 3 private groups were included, with the majority of these groups focused on sharing information. Five main themes of posted content were identified: diagnosis, management, beliefs, psychosocial factors, and medical requirements. “Diagnosis”-related posts referred to conversations about the causes and symptoms of G6PD, “management” referred to medication or diet, “beliefs” involved traditional or lay perceptions, “psychosocial factors” referred to posts that disclosed how psychosocial factors influenced G6PD deficiency practices, and “medical requirements” referred to documentation regarding the condition. The bulk of these posts used three strategies for communication: information-requesting, self-disclosure, and promotion of products/services. Information requests were the most common. @*Conclusion@#The results of the study showed opportunities and challenges in health education on G6PD, especially in evaluating the credibility and accuracy of the information given and received. Looking at the content and manner of communicating information noted, the newborn screening program may improve its advocacy and education campaign, and may develop targeted educational materials and effective dissemination strategies that could clarify, explain, or refute information and beliefs mostly shared on these platforms.

A prospective study of genetic screening of 2 060 neonates by high-throughput sequencing / 中华医学遗传学杂志

OBJECTIVE@#To assess the value of genetic screening by high-throughput sequencing (HTS) for the early diagnosis of neonatal diseases.@*METHODS@#A total of 2 060 neonates born at Ningbo Women and Children's Hospital from March to September 2021 were selected as the study subjects. All neonates had undergone conventional tandem mass spectrometry metabolite analysis and fluorescent immunoassay analysis. HTS was carried out to detect the definite pathogenic variant sites with high-frequency of 135 disease-related genes. Candidate variants were verified by Sanger sequencing or multiplex ligation-dependent probe amplification (MLPA).@*RESULTS@#Among the 2 060 newborns, 31 were diagnosed with genetic diseases, 557 were found to be carriers, and 1 472 were negative. Among the 31 neonates, 5 had G6PD, 19 had hereditary non-syndromic deafness due to variants of GJB2, GJB3 and MT-RNR1 genes, 2 had PAH gene variants, 1 had GAA gene variants, 1 had SMN1 gene variants, 2 had MTTL1 gene variants, and 1 had GH1 gene variants. Clinically, 1 child had Spinal muscular atrophy (SMA), 1 had Glycogen storage disease II, 2 had congenital deafness, and 5 had G6PD deficiency. One mother was diagnosed with SMA. No patient was detected by conventional tandem mass spectrometry. Conventional fluorescence immunoassay had revealed 5 cases of G6PD deficiency (all positive by genetic screening) and 2 cases of hypothyroidism (identified as carriers). The most common variants identified in this region have involved DUOX2 (3.93%), ATP7B (2.48%), SLC26A4 (2.38%), GJB2 (2.33%), PAH (2.09%) and SLC22A5 genes (2.09%).@*CONCLUSION@#Neonatal genetic screening has a wide range of detection and high detection rate, which can significantly improve the efficacy of newborn screening when combined with conventional screening and facilitate secondary prevention for the affected children, diagnosis of family members and genetic counseling for the carriers.

Newborn Screening Center Mindanao census from 2019 to 2022

@#Congenital disorders cause a global estimate of 240,000 deaths in newborns and 170,000 deaths in children ages 1 month up to 5 years every year. 1 In order to detect metabolic, hematologic, or endocrine disorders in newborns, newborn screening (NBS) is conducted in many countries around the world. In the Philippines, NBS was introduced by the Newborn Screening Study Group in 1996, with the aim of establishing the incidence of six metabolic conditions, namely, congenital hypothyroidism, congenital adrenal hyperplasia, galactosemia, phenylketonuria, homocystinuria, and glucose-6-phosphate dehydrogenase deficiency, and creating recommendations for the adoption of NBS nationwide.2 The Republic Act No. 9288, otherwise known as the Newborn Screening Act of 2004, requires that the Department of Health shall ensure the establishment and accreditation of newborn screening centers (NSCs) in strategically located areas across the Philippines.3 At present, there are seven operational NSCs in the country,4 with the Newborn Screening Center-Mindanao (NSC-Mindanao) in Southern Philippines Medical Center (SPMC) as the only center catering to all NBS facilities all over Mindanao.5 NSC-Mindanao initially performed screening tests for five disorders, but now tests for a panel of 29 metabolic and other congenital disorders.

Bridging the gap in the recall of G6PD deficient screened babies: A policy brief

@#Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency is an enzyme defect affecting around 400 million people worldwide. In the Philippines, cumulative data from the Newborn Screening Reference Center as of December 2020 unveils 248,285 confirmed babies out of 15,087,251 screened babies or prevalence rate of 1:60 with the national return rate of 18% only (NSRC, 2021). One strategy identified pertaining to the recall of patient is the G6PD Recall Monitoring which resulted in a 76% G6PD return rate, compared to the 31% output of the standard recall done in the Province of Ilocos Norte in CY 2020 (NSC-NL, 2022). Hence, this policy brief on G6PD Recall Monitoring serves as a supplementary policy to bridge the gaps in the recall of G6PD Deficient Patients and increase return rate of G6PD nationwide.

Genetic Mutation Characteristics of Glucose-6-Phosphate Dehydrogenase Deficiency Patients in Wuhan / 中国实验血液学杂志

OBJECTIVE@#To explore the genotype mutation characteristics of patients with glucose-6-phosphate dehydrogenase(G6PD) deficiency in Wuhan.@*METHODS@#A total of 1 321 neonates with positive screening and outpatients were received G6PD mutation detection, 12 kinds of common G6PD mutation in Chinese people was detected by using multicolor melting curve analysis (MMCA) method, for those with negative results, the enzyme activity and clinical information were analyzed, sequencing was recommended after informed consent when it is necessary.@*RESULTS@#Among 1321 patients, a total of 768 mutations were detected out, with a detection rate of 58.1%. A total of 18 types of G6PD genotypes were identified, including c.1388G>A, c.1376G>T, c.95G>A, c.1024C>T, c.871G>A, c.392G>T, c.487G>A, c.1360C>T, c.1004C>A, c.517T>C, c.592C>T, c.94C>G, c.152C>T, c.320A>G, c.1028A>G, c.1316G>A, c.1327G>C and c.1376G>C, including 683 male hemizygotes, 3 female homozygotes, 80 female heterozygotes and 2 female compound heterozygous.@*CONCLUSION@#A total of 18 types of G6PD mutations are identified in the reaserch, and c.94C>G, c.1028A>G and c.1327G>C are first reported in Chinese population. The most common G6PD mutation types in Wuhan are c.1388G>A, c.1376G>T, c.95G>A.

Screening results and genetic features of glucose-6-phosphate dehydrogenase deficiency in 54 025 preterm infants in Chengdu, China / 中国当代儿科杂志

OBJECTIVE@#To analyze the screening results of glucose-6-phosphate dehydrogenase (G6PD) deficiency and gene mutation distribution of G6PD deficiency in preterm infants in Chengdu, China, in order to provide a basis for the improvement of G6PD screening process in preterm infants.@*METHODS@#Fluorescent spot test for G6PD deficiency using dried blood spots was used for G6PD screening of 54 025 preterm infants born from January 1, 2015 to December 31, 2019 in Chengdu, and G6PD enzymology and gene detection were used for the diagnosis of 213 infants with positive screening results.@*RESULTS@#Among the 54 025 preterm infants, 192 were diagnosed with G6PD deficiency, with an incidence rate of 3.55‰. The incidence rate of G6PD deficiency in preterm infants was higher than that in full-term infants in the same period of time and tended to increase year by year. Birth in summer, gestational age T mutation tend to have mild conditions.

Hemophagocytic lymphohistiocytosis presenting as acute coronary syndrome

Acquired Hemophagocytic Lymphohistiocytosis is a rare and deadly syndrome resulting from an overactive immune system, with uncontrolled activation of macrophages and lymphocytes, hypercytokinemia, and systemic inflammatory response. A 75-year-old male presented with typical anginal pain and was diagnosed with the acute coronary syndrome, which required a percutaneous transluminal coronary angioplasty. Instead of resolving the symptoms, the patient began to exhibit pyrexia and worsening altered sensorium with progressing renal failure, anemia, thrombocytopenia and respiratory failure. This constellation of symptoms caused the patient to require mechanical ventilation and hemodialysis. Upon laboratory analysis, hyperferritinemia provided an indication to the diagnosis of acquired hemophagocytic lymphohistiocytosis. After the initiation of dexamethasone, the patient made a significant recovery and was discharged from the hospital.

Segurança da cloroquina e hidroxicloroquina em pacientes com deficiência de glicose-6-fosfato desidrogenase (G6PD) e rastreamento da deficiência de G6PD em pacientes elegíveis para tratamento com cloroquina ou hidroxicloroquina devido à infecção por COVID-19 / Safety of chloroquine and hydroxychloroquine in patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency and screening for G6PD deficiency in eligible patients for treatment with chloroquine or hydroxychloroquine due to COVID-19 infection

OBJETIVO Esta nota técnica tem por objetivo apresentar uma avaliação técnica sobre a segurança da cloroquina e da hidroxicloroquina em pacientes com deficiência de glicose6-fosfato desidrogenase (G6PD), visando a fornecer subsídios para a recomendação sobre o rastreamento da deficiência de G6PD em pacientes elegíveis para tratamento com cloroquina ou hidroxicloroquina devido à infecção por coronavírus (COVID-19). DOS FATOS Trata-se de despacho emitido pelo Gabinete do Ministro da Saúde (0014309411) em 06 de abril de 2020, anexado ao processo 25000.048031/2020-24. O referido despacho apresenta um e-mail direcionado à Chefia de Gabinete do Ministro da Saúde, encaminhado pela profissional Dra. Silmara Paula Gouvea de Marco, vinculada à Universidade de São Paulo, intitulado "Problema Sério com Cloroquina". Neste, a autora da mensagem relata preocupação com o "efeito colateral de alto nível em pacientes com deficiência de G6PD ­ Anemia Hemolítica", sugerindo que "antes de ministrar o medicamento, laboratórios rastreiem a Def de G6PD, pois tais pacientes podem vir a óbito caso façam uso de tal medicamento", fazendo referência à utilização de cloroquina em pacientes com infecção por coronavírus (COVID-19). O processo foi recebido por esta coordenação em 13 de abril de 2020. DA ANÁLISE: Os medicamentos cloroquina e hidroxicloroquina foram recomendados pelo Ministério da Saúde como possibilidade terapêutica em pacientes com diagnóstico confirmado da COVID-19, hospitalizados e com a forma grave da doença, em caráter off label, ou seja, sem indicação prévia em bula. Ressalta-se que a sugestão do uso pode ser modificada a qualquer tempo, a depender dos resultados das pesquisas científicas em curso A bula da cloroquina informa sua contraindicação para pacientes com deficiência de glicose-6-fosfato desidrogenase e a bula da hidroxicloroquina adverte que seu uso nesses pacientes deve ser feito com cautela. A cloroquina é uma 4-aminoquinolina tradicionalmente recomendada como antimalárico. Quando administrada em combinação com primaquina (8-aminoquinolina), confere cura radical aos pacientes infectados por Plasmodium vivax. Estudos conduzidos com a primaquina na década de 1950 identificaram risco aumentado de anemia hemolítica em pacientes com deficiência de G6PD tratados com primaquina. CONCLUSÕES A cloroquina apresenta contraindicação em bula para pacientes com deficiência de G6PD e a bula da hidroxicloroquina recomenda uso com cautela nesses pacientes. Apesar disso, as evidências atualmente disponíveis não apontam para risco aumentado da utilização desses medicamentos em pacientes com deficiência de G6PD. Dessa forma, não se justifica o rastreamento de deficiência de G6PD em todos os pacientes elegíveis para tratamento com cloroquina ou hidroxicloroquina devido à infecção por coronavírus (COVID-19).

Filipino midwives’ knowledge, self-perceived role and experiences in educating parents of families with newborns who are confirmed cases of glucose 6 phosphate dehydrogenase deficiency

Introduction@#Midwives play an important role in promoting newborn screening (NBS) and they ensure that all Filipino newborns are offered screening for life-threatening metabolic conditions. Of the disorders included in NBS, Glucose 6 Phosphate Dehydrogenase (G6PD) deficiency is the most common disorder detected. @*Objectives@#This study aimed to assess the knowledge, self-perceived role, and experience of midwives who practice in urban and rural settings in educating parents of a newborn who are confirmed cases for G6PD deficiency. @*Method@#One-on-one semi structured interview was conducted among 21 midwives from Manila City and Lipa, Batangas, Philippines. @*Results@#The study findings indicate that midwives frequently serve as the primary information resource for parents of infants with G6PD deficiency. Assessment of knowledge showed that midwives have sufficient knowledge about the medical management and the necessary follow-up of infants with G6PD deficiency. However, it also revealed that they have inadequate knowledge of the underlying genetic cause of G6PD deficiency. The surveyed midwives recognized their role and the importance of proper education regarding G6PD deficiency. @*Conclusion@#The findings of this study identified gaps in the midwives’ knowledge on the genetic mechanisms and inheritance of G6PD deficiency, which could be a basis to improve the education and dissemination of information and to eventually improve parental education and care of newborns with G6PD deficiency

Current status of readmission of neonates with hyperbilirubinemia and risk factors for readmission / 中国当代儿科杂志

OBJECTIVE@#To investigate the current status of readmission of neonates with hyperbilirubinemia and risk factors for readmission.@*METHODS@#From January 2017 to December 2019, a total of 85 infants who were readmitted due to hyperbilirubinemia were enrolled as the study group. A total of 170 neonates with hyperbilirubinemia but without readmission during the same period of time were randomly selected as the control group. The medical data were compared between the two groups. Multivariate logistic regression was used to assess the risk factors for readmission due to hyperbilirubinemia.@*RESULTS@#The readmission rate was 2.30%, and the interval between readmission and initial admission was 5 days. Compared with the control group, the study group had significantly higher levels of total bilirubin and indirect bilirubin at discharge (P<0.05) and a significantly longer duration of phototherapy during the first hospitalization (P<0.05). The univariate analysis showed that compared with the control group, the study group had significantly lower birth weight, gestational age, and age on initial admission (P<0.05) and a significantly higher proportion of infants with glucose-6-phosphate dehydrogenase (G-6-PD) deficiency or hemolytic disease (P<0.05). The multivariate analysis showed that low gestational age (OR=1.792, P<0.05), young age on initial admission (OR=1.415, P<0.05), and G-6-PD deficiency (OR=2.829, P<0.05) were independent risk factors for readmission of neonates with hyperbilirubinemia.@*CONCLUSIONS@#The infants with hyperbilirubinemia who have lower gestational age, younger age on initial admission, and G-6-PD deficiency have a higher risk of readmission due to hyperbilirubinemia. It is thus important to strengthen the management during hospitalization and after discharge for these infants to prevent the occurrence of readmission.

Gene Mutants and Their Clinical Characteristics of G6PD Deficiency Among Children in Luzhou Area / 中国实验血液学杂志

OBJECTIVE@#To study the gene mutants of G6PD deficiency and their clinical featuers among children in Luzhou area.@*METHODS@#732 children with suspected G6PD deficiency in Luzhou area from March 2017 to July 2019 were selected, which were examined for G6PD enzyme activity and gene mutation. The G6PD enzyme activity was detected by ultraviolet rate quantification, and the gene mutation was detected by melting curve analysis-based PCR assay, and the clinical characteristics of different mutants when acute hemolysis happens were analyzed.@*RESULTS@#387 positive specimens were detected in 732 specimens, among which the gene mutation and the enzyme activity decrease was found in specimens 326, 49 specimens showed gene mutation but without the enzyme activity decrease, and 12 specimens without gene mutation but with the enzyme activity decrease. Among 375 positive samples with gene mutation, c.1376G＞T, c.1388G＞A, c.1024C＞T and c.95A＞G were the most common. The enzyme activity of c.1376G＞T and c.1388G＞A was statistically significantly different with c.1024C＞T. The most common incentives of acute hemolysis was broad bean, the reticulocyte count was statistically significantly different among c.1376G＞T, c.1388G＞A and c.95A＞G. The hemoglobin level of c.1376G＞T was statistically significantly different from with c.95A＞G. Moreover, c.1376G＞T, c.1388G＞A was lower than c.1024 C＞T. When acute hemolysis occurs, the reticulocyte count and hemoglobin changes were different between different mutation types, while the patients age, hospitalization time, blood transfusion, total bilirubin, and urine color recovery time of the patients were not statistically different.@*CONCLUSION@#The common mutants of G6PD deficiency among children in Luzhou area are c.1376G＞T, and c.1388G＞A, c.1024C＞T. Favism is the most common clinical manifestation of G6PD deficiency.

Caracterización fenotípica y genotipica de la deficiencia de glucosa-6-fosfato deshidrogenasa en Argentina: Estudio retrospectivo y descriptivo / Phenotypic and genotypic characterization of glucose-6-phosphate dehydrogenase deficiency in Argentina: Retrospective and descriptive study

La deficiencia de glucosa-6-fosfato deshidrogenasa es la enzimopatía eritrocitaria causada por mutaciones en el gen G6PD, cuya herencia está ligada al cromosoma X. Se analizan las características clínicas y de laboratorio de 24 individuos con deficiencia de G6PD durante 25 años. La edad mediana al momento del diagnóstico fue 10,2 años (rango: 0,6-56,4). El 54,2 % de los pacientes fueron asintomáticos, mientras que el 25 % presentó anemia hemolítica crónica no esferocítica; el 12,5 %, ictericia neonatal y anemia hemolítica posinfecciones, y el 8,3 %, anemia hemolítica aguda pos ingesta de habas. Los 24 pacientes estudiados presentaron variantes descritas previamente en la literatura. Las características clínicas observadas estuvieron acordes con las variantes encontradas. Veintiuna mujeres, pertenecientes a la rama materna de los individuos afectados, pudieron ser identificadas por biología molecular como portadoras de la deficiencia, por lo que recibieron el consejo genético correspondiente.

Glucose-6-phosphate dehydrogenase deficiency is an erythrocyte enzyme disorder caused by mutations in the G6PD gene, which has an X-linked inheritance. Here we analyze the clinical and laboratory characteristics of 24 subjects with G6PD deficiency over 25 years. Their median age at diagnosis was 10.2 years (range: 0.6-56.4). No symptoms were observed in 54.2 % of patients, whereas 25 % had chronic non-spherocytic hemolytic anemia; 12.5 %, neonatal jaundice and postinfectious hemolytic anemia; and 8.3 %, acute hemolytic anemia after ingestion of fava beans. The 24 studied patients had variants that had been previously described in the bibliography. The clinical characteristics observed here were consistent with the variants found. A total of 21 women from the maternal line of affected subjects were identified as deficiency carriers using molecular biology techniques, so they received the corresponding genetic counseling.

Karyotyping and population genetics in Cold War Mexico: Armendares's and Lisker's characterization of child and indigenous populations, 1960s-1980s / Cariotipia e genética de populações no México da Guerra Fria: as caracterizações de Armendares e Lisker sobre as populações infantil e indígena, 1960-1980

Abstract This paper focuses on geneticists Salvador Armendares's and Rubén Lisker's studies from the 1960s to the 1980s, to explore how their work fits into the post-1945 human biological studies, and also how the populations they studied, child and indigenous, can be considered laboratories of knowledge production. This paper describes how populations were considered for different purposes: scientific inquiry, standardization of medical practices, and production or application of medicines. Through the narrative of the different trajectories and collaborations between Armendares and Lisker, this paper also attempts to show the contact of their scientific practices, which brought cytogenetics and population genetics together at the local and global levels from a transnational perspective.

Resumo Aborda o trabalho dos geneticistas Salvador Armendares e Rubén Lisker, entre 1960 e 1980, para analisar como se insere nos estudos biológicos humanos do pós-1945, e demonstra como as populações estudadas por eles, a infantil e a indígena, podem ser consideradas laboratórios de produção de conhecimento. O artigo revela como as populações foram consideradas para diversos propósitos: investigação científica, padronização das práticas médicas e produção ou aplicação de suas medicinas. Por meio da narrativa das diferentes trajetórias e colaborações entre Armendares e Lisker, também procura discutir o contato de suas práticas científicas, que colocaram a citogenética e a genética de populações lado a lado nos níveis local e global a partir de uma perspectiva transnacional.

Prevalence of G6PD deficiency and molecular characterization of G202A, A376G and C563T polymorphisms in newborns in Southeastern Brazil / Prevalência da deficiência de G6PD e caracterização molecular dos polimorfismos G202A, A376G e C563T em neonatos no Sudeste do Brasil

ABSTRACT Objective To evaluate the prevalence of G6PD deficiency and characterize G202A, A376G and C563T polymorphisms in neonates using molecular assays. Methods A total of one thousand samples were tested through quantitative analysis of enzyme activity, detecting 25 G6PD-deficient individuals. Patients identified as deficient were submitted to molecular analysis quantitative real-time polymerase chain reaction - (qPCR) to investigate the presence of variants associated with the deficiency. Results The total prevalence of G6PD deficient was 2.5%. Of the 25 samples identified as deficient, 21 were submitted to qPCR assay to analyze the presence of G202A, A376G and C563T variants. All samples showed the G202A/A376G genotype, characterizing G6PD A- phenotype. Conclusion The prevalence of G6PD deficiency in the present study was similar to that observed in other study populations in Brazil. Molecular analysis identified in all patients the presence of the genetic polymorphism G202A/A376G, more common in the Brazilian population with G6PD deficiency, which is directly estimated by enzyme activity level.

RESUMO Objetivo Avaliar a prevalência da deficiência de G6PD e caracterizar, por ensaios moleculares, os polimorfismos G202A, A376G e C563T em recém-nascidos. Métodos Foram testadas mil amostras por meio da análise quantitativa da atividade enzimática, detectando 25 portadores de deficiência de G6PD. Os pacientes identificados como deficientes foram submetidos à análise molecular reação em cadeia da polimerase em tempo real (qPCR) para pesquisa da presença das variantes associadas à deficiência. Resultados A prevalência total de deficientes de G6PD foi de 2,5%. Das 25 amostras identificadas como deficientes, 21 foram submetidas ao qPCR, para análise da presença das variantes G202A, A376G e C563T. Todas as amostras apresentaram o genótipo G202A/A376G, caracterizando fenótipo G6PD A-. Conclusão A prevalência da deficiência da G6PD no presente estudo foi semelhante à verificada em outras populações de estudo no Brasil. A análise molecular identificou em todos os pacientes a presença do polimorfismo genético G202A/A376G, mais comum na população brasileira portadora da deficiência de G6PD, que é diretamente estimada pelo nível de atividade enzimática.

Hémoglobinurie au cours du paludisme grave de l'enfant: Attention au déficit en G6PD à propos de 5 observations

Le paludisme reste un problème majeur de santé publique en Afrique subsaharienne, notamment au Niger où il sévit sur un mode endémique. Un des éléments de gravité est la survenue d'une hémoglobinurie et/ou une anémie. Nous rapportons 5 observations d'anémie par déficit en glucose-6-phosphatase (G6PD) de diagnostic tardif, car mis dans le compte du paludisme grave. Il s'agissait de cinq enfants d'âge moyen de 8,2 ans. 3 des patients étaient de sexe masculin. Tous les cinq patients étaient admis en urgence, référés pour anémie sévère dans un contexte de fièvre. Le nombre moyen d'hospitalisations antérieures était de 4. Les principaux signes à l'admission étaient la pâleur, les douleurs abdominales et des urines couleur porto. La bandelette urinaire a révélé une hémoglobinurie chez tous les patients et une bilirubinurie dans 4 cas. Une notion d'ictère a été retrouvée chez 2 patients, les 3 autres présentaient un ictère clinique. Le taux d'hémoglobine moyen était de 4,4 g/dl. Le taux des plaquettes et le taux de réticulocytes étaient normaux. La goutte épaisse était positive chez tous les patients. Le profil électrophorétique de l'hémoglobine était hétérozygote AS dans 2 cas et homozygote AA dans 3 cas. L'activité enzymatique de la G6PD, dosée à distance de la crise, était effondrée chez tous les patients. Le déficit en G6PD constituant une cause fréquente d'hémoglobinurie et/ou d'anémie chez l'enfant, le bilan étiologique, surtout devant la récurrence de ces signes, devrait en outre comporter un dosage de l'activité enzymatique de la G6PD

Déficit de glucosa-6-fosfato deshidrogenasa / Glucose-6-Phosphate Dehydrogenase Deficiency

Introducción: La presencia de ictericia en la práctica clínica generalmente hace sospechar problemas hepáticos o de vías biliares, siendo el íctero de causa hemolítica menos frecuente. Objetivo: Presentar un caso de íctero hemolítico infrecuente. Caso clínico: Paciente femenina de 47 años que presenta episodio de íctero hemolítico después de la ingestión de medicamentos. Los estudios de función hepáticos fueron normales. Se sospecha y diagnostica déficit de glucosa 6 fosfato deshidrogenasa variante electroforética A-. Conclusiones: Ante la presencia de íctero deben sospecharse posibles causas no hepáticas, como el déficit de glucosa 6 fosfato deshidrogenasa(AU)

Introduction: The presence of jaundice in clinical practice usually causes suspicion of liver or bile duct problems, but hemolytic icterus is a less frequent cause. Objective: To present a case of infrequent hemolytic icterus. Clinical case: A 47-year-old female patient who presented an episode of hemolytic icterus after medication ingestion. Liver function studies were normal. Suspected and diagnosed glucose 6-phosphate dehydrogenase deficiency, electrophoretic variant A-. Conclusions: In the presence of icterus, possible non-hepatic causes should be suspected, such as glucose 6-phosphate dehydrogenase deficiency(AU)

Unusual presentation of Erythema Elevatum Diutinum mimicking a giant wart on the heels of a Filipino male : A case report

@#Erythema elevatum diutinum (EED) is a rare condition believed to be a form of chronic recurrent leukocytoclastic vasculitis possibly secondary to vascular immune complex deposition. The disease is characterized by symmetrical, red, brownish-purple, and yellow papules, plaques, and nodules distributed mainly over the extensor surfaces of the extremities. We report a 61-year-old male with an atypical presentation of such disease as a giant warty lesion on the heels. Histologically, a spectrum from leukocytoclastic vasculitis to vessel occlusion and dermal fibrosis is seen in EED. These histological findings were present in the histopathological reading of the patient which established its diagnosis and further ruled out verruca vulgaris. The disease is associated with many disease entities, which include human immunodeficiency virus, malignant conditions, chronic infection, and autoimmune and connective tissue disorders. None of these conditions was present in the patient as manifested in the history, physical, and laboratory examinations. However, the patient has a low hemoglobin and a G6PD deficiency which makes him a bad candidate for dapsone therapy which is the main treatment for EED. Tetracycline, niacinamide and plain vaseline + salicylic acid were given initially for 4 weeks but no improvement was noticed. It was then shifted to 10mg intralesional corticosteroid and urea paste 40%. Niacinamide still was given. There was a marked thinning of the lesions. The medications were continued and were slowly tapered. More improvement of the lesions was observed.

Genetic mutation screening of glucose-6-phosphate dehydrogenase deficiency in Dongguan district / 中华医学遗传学杂志

OBJECTIVE@#To determine the incidence and genotypes of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Dongguan region of Guangdong Province and assess the efficacy and feasibility of flow-through hybridization.@*METHODS@#Peripheral blood samples were randomly selected and detected by modified G6PD/6PGD ratio method. Flow-through hybridization was used to detect 14 G6PD mutations among all samples.@*RESULTS@#In total 1005 samples were collected, the detection rate for modified G6PD/6PGD ratio method and flow-through hybridization were 2.79% and 20.90%, respectively. The consistency of the two methods was poor(Kappa=0.187). When c.1311C>T mutation is excluded, the consistency of the two methods was good for males (Kappa=0.952) but still poor for females (Kappa=0.194). The most common mutations were c.1376G>T, c.1388G>A and c.95A>G. No G6PD deficiency was found among those only carrying the c.1311C>T mutation.@*CONCLUSION@#Flow-through hybridization can simultaneously detect 14 loci, covering over 90% of common mutations in Chinese population, and can be easily expanded. The routine method may miss many females carrying homozygous, compound heterozygous and heterozygous mutations, but the detection rate for male hemizygous mutation was much higher.

Change of G6PD Activity in Children with Acute Leukemia and Its Clinical Significance / 中国实验血液学杂志

OBJECTIVE@#To explore the change of G6PD activity in children with acute leukemia（AL）and its correlation with the clinical characteristics.@*METHODS@#The G6PD activity in peripheral blood samples from 74 children disagnosed as AL (50 cases of ALL, and 24 cases of AML) was detected by Zinkham method recommended by WHO in 1967, and its relevance with clinical indicators was statistically analyzed. The peripheral blood samples of 70 healthy children were used as the controls.@*RESULTS@#The G6PD activity in ALL and AML groups was significantly lower than that in the control group (P=0.000, P=0.000) and there was no statistical difference between ALL and AML groups. The G6PD activity in bacterial, fungal infection and non-infection groups (no bacterial and fungal infection) were statistically different from control group (P=0.02, P=0.001, P=0.001), respectively. The G6PD activity in bacterial infection group and non-infection group was statistically different from with fungal infection group (P=0.004, P=0.019), respectively. The G6PD activity linearly correlated with leukocyte count and neutrophil percentage in AL children (P=0.000, P=0.001, r=0.465, r=0.434), respectively. The median survival time of G6PD activity deficiency group was higher than that in the normal group, but without statistically significant difference (P=0.4149).@*CONCLUSION@#The G6PD activity in AL children is significantly lower than that in healthy children, and the G6PD activity linearly relates with leukocyte count and neutrophil percentage of AL children. The patients with G6PD activity deficiency is more susceptible to fungal infection, moreover the infection is more serious.