| reference | supports | snippet | explanation |
|---|---|---|---|
| PMID:19233695 | WRONG_STATEMENT | Glucose-6-phosphate deficiency is the most prevalent enzyme deficiency, with an estimated 400 million people affected worldwide. | The literature indicates that G6PD deficiency is the most common enzyme deficiency affecting approximately 400 million people. This would suggest a global prevalence rate higher than 4.9%. |
| PMID:34699526 | NO_EVIDENCE | G6PD deficiency (G6PDd) is the most common enzymopathy globally. | The abstract does not provide specific global prevalence percentages but suggests the condition is very common worldwide. |
| PMID:31833391 | NO_EVIDENCE | G6PD deficiency was reported in India more than 50 years ago and the prevalence rate varies from 5.7% to 27.9% in different caste and tribal groups. | This indicates a higher prevalence in specific populations but does not provide a global percentage. |
| PMID:29739104 | NO_EVIDENCE | This study analyzed the prevalence of G6PD deficiency in Sichuan, China. | The study focuses on a specific region and does not provide global prevalence data. |
| reference | supports | snippet | explanation |
|---|---|---|---|
| PMID:20732351 | PARTIAL | Rates were higher among African Americans (68/699; 9.7%) | The study reported a prevalence rate of 9.7% for G6PD deficiency among African Americans, which is close but not exactly 10%. |
| reference | supports | snippet | explanation |
|---|---|---|---|
| PMID:33560519 | PARTIAL | The incidence of G6PD deficiency appeared to be severely underestimated. | Specific prevalence range not provided, but implies awareness is low, suggesting there could be underreported cases. |
| PMID:27853304 | PARTIAL | Of the 23 missense mutations, p.S188F, p.I48T, p.N126D, and p.V68M, were identified as the most common mutations among Arab populations | Discusses common mutations in Middle East but does not provide specific prevalence percentages. |
| reference | supports | snippet | explanation |
|---|---|---|---|
| PMID:27040960 | SUPPORT | G6PD deficiency, one of the commonest inherited enzyme abnormalities in humans, arises through one of many possible mutations, most of which reduce the stability of the enzyme and its level as red cells age. | The snippet confirms that mutations in the G6PD gene lead to reduced enzyme activity. |
| PMID:1580603 | SUPPORT | Most of the studies have been performed in glucose-6-phosphate dehydrogenase deficiency, where a large number of point mutations have been identified. | The excerpt indicates that mutations are identified in G6PD deficiency, implying a link to decreased enzyme activity. |
| PMID:30279493 | SUPPORT | Glucose-6-phosphate dehydrogenase (G6PD) deficiency, one of the most common human genetic enzymopathies, is caused by over 160 different point mutations. | The snippet clearly states that G6PD deficiency is caused by numerous point mutations. |
| PMID:33051526 | SUPPORT | The results showed that the overall prevalence of G6PD deficiency in China was 2.10% at the national level. The top six common mutations were c.1388 G>A, c.1376 G>T, c.95 A>G, c.392 G>T, c.871 G>A and c.1024 C>T, accounting for more than 90% of G6PD deficient alleles. | This identifies specific mutations that lead to G6PD deficiency and thus, decreased enzyme activity. |
| PMID:23275194 | SUPPORT | G6PD gene mutations cause deficiency of the enzyme and a large spectrum of diseases. | Specifically notes that G6PD gene mutations lead to enzyme deficiency. |
| PMID:34138756 | SUPPORT | Deficiency of glucose-6-phosphate dehydrogenase (G6PD) is the single most common enzymopathy, present in approximately 400 million humans (approximately 5%). | This reference discusses the prevalence of G6PD deficiency, indirectly supporting the statement by establishing the link between mutations and enzyme deficiency. |
| PMID:30161219 | SUPPORT | As G6PD deficiency was previously reported in a limited number of PAH cases, we tested whether iPAH patients exhibit underlying G6PD alterations in erythrocytes. G6PD expression and activity define erythrocyte's antioxidant capacity, and its decrease contributes to erythrocyte fragility. | While the primary focus is on PAH, this underscores that decreased G6PD activity results from genetic mutations. |
| reference | supports | snippet | explanation |
|---|---|---|---|
| PMID:7602782 | SUPPORT | Glucose 6-phosphate dehydrogenase (G6PD) plays a key role in the generation of NADPH which is essential for maintaining glutathione in the reduced state. | This reference states that G6PD is crucial for generating NADPH, which is essential for maintaining cellular redox balance. |
| PMID:31500396 | SUPPORT | The generation of reducing equivalent NADPH via glucose-6-phosphate dehydrogenase (G6PD) is critical for the maintenance of redox homeostasis and reductive biosynthesis in cells. | This reference confirms that adequate G6PD activity is critical for maintaining redox homeostasis by generating NADPH. |
| PMID:35880537 | SUPPORT | However, ROS are regulated by a key enzyme called G6PD via the production of reduced nicotinamide adenine dinucleotide phosphate (NADPH), which controls the generation and removal of ROS in a tissue-specific manner. | This reference indicates that G6PD plays a crucial role in regulating ROS via NADPH production, thus confirming the role of G6PD in maintaining redox balance. |
| PMID:20484601 | SUPPORT | Glucose-6-phosphate dehydrogenase (G6PD) is an important site of metabolic control in the pentose phosphate pathway (PPP), providing reducing power (NADPH) and pentose phosphates. | This reference states that G6PD controls metabolic processes in the pentose phosphate pathway, providing NADPH necessary for redox balance. |
| reference | supports | snippet | explanation |
|---|---|---|---|
| PMID:17623517 | SUPPORT | Glucose-6-phosphate dehydrogenase (G6PD), the first and rate-limiting enzyme of the pentose phosphate pathway, is indispensable to maintenance of the cytosolic pool of NADPH and thus the cellular redox balance. | The literature confirms that G6PD deficiency disrupts NADPH levels, impairing the cell's ability to handle oxidative stress, which is consistent with the statement. |
| PMID:31961822 | SUPPORT | Fresh G6PD-deficient RBCs demonstrated defects in the oxidative phase of the pentose phosphate pathway. During refrigerated storage, G6PD-deficient RBCs demonstrated increased glycolysis, impaired glutathione homeostasis, and increased purine oxidation, as compared with G6PD-normal RBCs. | The study describes how G6PD deficiency leads to impaired management of oxidative stress in red blood cells due to defects in glutathione homeostasis, supporting the statement. |
| PMID:19769422 | SUPPORT | Numerous drugs, infections, and metabolic conditions have been shown to cause acute hemolysis of red blood cells in the G6PD-deficient patient... The most effective management strategy is to prevent hemolysis by avoiding oxidative stressors. | This reference supports the idea that decreased NADPH levels in G6PD deficiency impair the ability of red blood cells to handle oxidative stress, leading to hemolysis. |
| PMID:31235029 | SUPPORT | Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an erythrocyte enzyme defect that amplifies the susceptibility of erythrocytes to oxidative stress... Consequently, erythrocyte destruction and hemolysis occur. | This article confirms that G6PD deficiency amplifies susceptibility to oxidative stress in erythrocytes, leading to hemolysis. |
| PMID:11763298 | SUPPORT | G6PD generates nicotinamide adenine dinucleotide phosphate (NADPH), a co-factor in the synthesis of nitric oxide... Currently, there are 200 million people worldwide with red cell x-linked chromosome defects who... are at greater risk of developing hypertension or diabetes mellitus than those racial groups without the defect. | Although this study mainly discusses other health outcomes, it acknowledges the role of G6PD in generating NADPH, thus supporting the connection to oxidative stress and hemolysis due to deficiency. |
| reference | supports | snippet | explanation |
|---|---|---|---|
| PMID:31609781 | SUPPORT | The G6PD enzyme is critical to protecting erythrocytes against oxidative stress, and deficiency may lead to hemolysis in the presence of certain environmental factors such as infection and some medications and foods. | This reference clearly states that G6PD deficiency can lead to hemolysis when exposed to oxidative stressors like infections, certain medications, and foods. |
| PMID:32600868 | SUPPORT | Although most individuals are asymptomatic, exposure to certain food, drugs, or infections can trigger acute hemolytic anemia. | The abstract supports the statement by mentioning that G6PD deficiency can trigger acute hemolytic anemia when exposed to specific oxidative stressors. |
| PMID:31235029 | SUPPORT | The possible mechanism of oxidative stress-mediated destruction of erythrocytes in G6PD deficient individuals induced by periodontal infection is highlighted. | This reference discusses the mechanism of oxidative stress-mediated hemolysis in individuals with G6PD deficiency, supporting the statement. |
| PMID:33313989 | SUPPORT | Ingestion of fava beans, as well as infection and certain drugs, are the most typical causes of acute hemolysis in people with G6PD deficiency. | The reference explicitly mentions that certain foods (like fava beans), infections, and drugs can cause acute hemolysis in G6PD-deficient individuals. |
| PMID:30380124 | SUPPORT | Although the resulting hemolysis is most often associated with drug exposure, it has also been reported after consumption of certain foods. | The reference confirms that hemolysis in G6PD deficiency can be triggered by certain foods and medications. |
| reference | supports | snippet | explanation |
|---|---|---|---|
| PMID:17611006 | SUPPORT | People, usually males, with deficient alleles are susceptible to neonatal jaundice, and acute hemolytic anemia, usually during infection, after treatment with certain drugs or after eating fava beans. | The text supports that G6PD deficiency is associated with hemolytic anemia, jaundice, and other hematologic phenotypes. |
| PMID:32600868 | SUPPORT | Although most individuals are asymptomatic, exposure to certain food, drugs, or infections can trigger acute hemolytic anemia. | The mention of hemolytic anemia as a potential trigger due to G6PD deficiency supports the statement. |
| PMID:35465846 | SUPPORT | The characteristic of glucose-6-phosphate dehydrogenase (G6PD) deficiency is red blood cell (RBC) destruction in response to oxidative stress. | This supports the hematologic nature of the phenotypes associated with G6PD deficiency. |
| PMID:27974910 | SUPPORT | G6PD deficiency is a risk factor of neonatal sepsis and also a justification for more male involvement in this disease. | The reference highlights the role of G6PD deficiency in neonatal sepsis, supporting the association with hematologic issues. |
| PMID:28982343 | SUPPORT | The highest prevalence of hemolytic crisis in G6PD deficiency patients was found within the age group of 1-3 years. | The study confirms that hemolytic anemia is a common phenotype in G6PD deficiency. |
| PMID:30161219 | SUPPORT | A moderate decrease in G6PD activity is associated with PAH. | The reference supports the hematologic impact of G6PD deficiency. |
| reference | supports | snippet | explanation |
|---|---|---|---|
| PMID:19589177 | SUPPORT | In Vietnam the blackwater fever syndrome (BWF) has been associated with malaria infection, quinine ingestion and G6PD deficiency. | Blackwater fever syndrome (BWF) characterized by dark urine is associated with G6PD deficiency, supporting the statement that dark urine occurs during acute hemolytic episodes, which fits the genitourinary category. |
| PMID:4556779 | SUPPORT | Hemolysis in glucose-6-phosphate dehydrogenase deficiency. | Although the reference does not explicitly mention dark urine, it implies hemolysis during acute episodes which is known to cause dark urine as a result of hemoglobinuria, indirectly supporting the statement. |
| reference | supports | snippet | explanation |
|---|---|---|---|
| PMID:508636 | SUPPORT | Glucose-6-phosphate dehydrogenase (G6PD) deficiency was detected in 16 (69.6%) of a group of 23 neonates who had unexplained moderate or severe jaundice. | This study shows a high incidence of moderate or severe jaundice in G6PD-deficient neonates, supporting the claim that neonatal jaundice is a common systemic phenotype in these individuals and may be severe. |
| PMID:27040960 | SUPPORT | G6PD-deficient persons are mostly asymptomatic, but they can develop severe jaundice during the neonatal period. | The literature states that severe neonatal jaundice is associated with G6PD deficiency, supporting the statement's note about the potential severity. |
| PMID:19233695 | SUPPORT | This inherited deficiency causes neonatal hyperbilirubinemia and chronic hemolytic anemia. | The study confirms that G6PD deficiency causes neonatal hyperbilirubinemia (jaundice), reinforcing the statement. |
| PMID:17611006 | SUPPORT | People, usually males, with deficient alleles are susceptible to neonatal jaundice, and acute hemolytic anemia, usually during infection, after treatment with certain drugs or after eating fava beans. | This reference supports the statement by confirming susceptibility to neonatal jaundice in G6PD-deficient individuals. |
| reference | supports | snippet | explanation |
|---|---|---|---|
| PMID:32702756 | SUPPORT | any of them may develop acute and sometimes very severe hemolytic anemia when triggered by ingestion of fava beans | The article supports the statement that G6PD deficiency can result in acute hemolytic anemia triggered by the ingestion of fava beans, termed as favism. |
| PMID:36678214 | SUPPORT | Favism is a hemolytic disease due to the ingestion of fava beans in individuals with glucose-6-phosphate dehydrogenase (G6PD) deficiency. | The article explicitly describes favism as a hemolytic disease caused by the ingestion of fava beans in individuals with G6PD deficiency. |
| PMID:1948276 | PARTIAL | Favism, a hemolytic condition associated with fava bean consumption among the glucose-6-phosphate dehydrogenase (G6PD) deficient persons, is well described in the Middle East and Mediterranean areas. | While the article acknowledges the occurrence of favism in certain populations, it also highlights that significant hemolysis due to fava bean consumption is not well documented among the Thais or Southeast Asians, suggesting geographic variability in the phenotype's frequency. |
| PMID:16513531 | SUPPORT | Favism was found in 3.6% of the G6PD-deficient children. | The article confirms the occurrence of favism in a subset of G6PD-deficient children, supporting the notion of occasional frequency. |
| PMID:30380124 | SUPPORT | In this review, fava beans were found to be the only food for which there is conclusive clinical evidence linking the risk of hemolytic anemia to individuals with G6PD deficiency. | The article supports the association between G6PD deficiency and hemolytic anemia triggered by fava bean consumption (favism). |
| name | presence | evidence | frequency | context | cell_types |
|---|---|---|---|---|---|
| G6PD Enzyme Activity | Decreased or Absent | TRUNCATED | None | None | None |
| Unconjugated Bilirubin | Elevated | TRUNCATED | None | during hemolytic episodes | None |
| Lactate Dehydrogenase (LDH) | Elevated | TRUNCATED | None | during hemolytic episodes | None |
| Heinz Bodies | Present | TRUNCATED | OCCASIONAL | during acute hemolysis |
|
| reference | supports | snippet | explanation |
|---|---|---|---|
| PMID:32702756 | SUPPORT | Glucose 6-phosphate dehydrogenase (G6PD) deficiency is 1 of the commonest human enzymopathies, caused by inherited mutations of the X-linked gene G6PD. | The snippet indicates that G6PD deficiency is caused by mutations in the X-linked gene G6PD, which aligns with the statement about the genetic inheritance being X-linked recessive. |
| PMID:33560519 | SUPPORT | Glucose-6-phosphate dehydrogenase (G6PD) deficiency, an inherited X-linked recessive disorder. | The snippet explicitly mentions that G6PD deficiency is an X-linked recessive disorder. |
| PMID:24460025 | SUPPORT | Glucose-6-Phosphate Dehydrogenase (G6PD) gene is located at the X-chromosome at Xq28 and the disease is recessively inherited predominantly in males. | This reference specifies the location of the G6PD gene on the X-chromosome and indicates that the disorder is inherited in a recessive manner. |
| name |
|---|
| X-linked recessive |
| reference | supports | snippet | explanation |
|---|---|---|---|
| PMID:31609781 | SUPPORT | The G6PD enzyme is critical to protecting erythrocytes against oxidative stress, and deficiency may lead to hemolysis in the presence of certain environmental factors such as infection and some medications and foods. | The literature explicitly mentions that environmental factors, including infection, medications, and foods, can lead to hemolysis in patients with G6PD deficiency. |
| PMID:24372186 | SUPPORT | primaquine and other drugs can trigger acute haemolytic anaemia in subjects who have an inherited mutation of the glucose 6-phosphate dehydrogenase (G6PD) gene. | This reference supports the statement by mentioning that medications like primaquine are known to trigger hemolytic anemia in G6PD deficient individuals. |
| PMID:30380124 | SUPPORT | fava beans can provoke severe oxidative hemolysis in individuals with G6PD deficiency. | This reference mentions that consumption of fava beans can provoke hemolysis, supporting the statement regarding foods as triggering factors. |
| PMID:32600868 | SUPPORT | exposure to certain food, drugs, or infections can trigger acute hemolytic anemia. | The literature clearly states that food, drugs, and infections can act as triggers for hemolytic anemia in individuals with G6PD deficiency. |
| PMID:27081765 | SUPPORT | it is known that a number of drugs, foods and chemicals can trigger haemolysis in G6PD deficient individuals. | This reference supports the statement by indicating that various environmental factors, including drugs and foods, can trigger hemolysis in G6PD-deficient individuals. |
| PMID:9827875 | SUPPORT | Five cases of hemolytic episodes arising from the loading of trinitrotoluene (TNT) were detected. All five workers showed absolute G6PD deficiency. | The incidence of hemolytic episodes in the context of TNT exposure further supports that environmental factors can trigger hemolysis in G6PD-deficient individuals. |
| reference | supports | snippet | explanation |
|---|---|---|---|
| PMID:31609781 | SUPPORT | By recognizing the potential for G6PD deficiency, clinicians can screen for the disorder and teach affected patients how to avoid triggers that result in harmful clinical manifestations. | The statement is supported by the reference as it mentions the importance of avoiding triggers that can lead to harmful clinical manifestations in individuals with G6PD deficiency. |
| PMID:32600868 | SUPPORT | Although most individuals are asymptomatic, exposure to certain food, drugs, or infections can trigger acute hemolytic anemia. Given the potential for coronavirus to trigger oxidative stress, unrecognized G6PD deficiency in the presence of the COVID-19 viral infection may cause hemolytic crisis and worse outcome in affected individuals. | The reference supports the statement by highlighting the importance of avoiding oxidative stressors to prevent acute hemolytic anemia in G6PD-deficient individuals. |
| PMID:31235029 | SUPPORT | The possible mechanism of oxidative stress-mediated destruction of erythrocytes in G6PD deficient individuals induced by periodontal infection is highlighted. | This reference supports the statement by discussing the increased risk of oxidative stress-mediated destruction of erythrocytes, indicating the importance of avoiding such stressors. |
| PMID:31089417 | SUPPORT | G6PD deficiency, theoretically, renders red blood cells (RBC) susceptible to oxidative stress. | The reference supports the statement by emphasizing the susceptibility of G6PD-deficient individuals to oxidative stress and the potential benefits of avoiding such stressors. |
| reference | supports | snippet | explanation |
|---|---|---|---|
| PMID:34105166 | SUPPORT | 33% of patients had Hb < 50 g/L and were all transfused. 50% had Hb between 50 and 65 g/L, half of them (n = 49) did not receive transfusion and only two patients (4%) required transfusion upon follow up. A restrictive transfusion strategy was adopted... | This study indicates that during acute hemolytic crisis in G6PD-deficient children, blood transfusions were given to those with severe anemia, supporting the necessity of blood transfusion for severe cases. |
| PMID:16225031 | SUPPORT | Because acute hemolysis is caused by exposure to an oxidative stressor in the form of an infection, oxidative drug, or fava beans, treatment is geared toward avoidance of these and other stressors. Acute hemolysis is self-limited, but in rare instances it can be severe enough to warrant a blood transfusion. | The statement that management involves hydration, blood transfusions when necessary, and monitoring for complications aligns with the literature, which suggests blood transfusion in severe cases and the self-limited nature of acute hemolysis. |
| PMID:34383774 | SUPPORT | G6PD-deficient individuals are susceptible to hemolysis during oxidative stress, which can occur from exposure to certain medications, including 8-aminoquinolines used to treat Plasmodium vivax malaria. Accordingly, access to point-of-care (POC) G6PD testing in Brazil is critical for safe treatment... | The context of oxidative stress and acute hemolysis in G6PD-deficient individuals points towards the requirement for careful monitoring and supportive care to mitigate severe outcomes. |
| PMID:23815264 | SUPPORT | Patients requiring RBC transfusions may simultaneously receive oxidative medications or have concurrent infections, both of which can induce haemolysis in G6PD-deficient RBCs...discusses G6PD deficiency, its importance in transfusion medicine... | This reference discusses the role of transfusions and monitoring in the management of hemolysis in G6PD-deficient patients during oxidative stress events. |
| reference | supports | snippet | explanation |
|---|---|---|---|
| PMID:27064064 | SUPPORT | Early detection and an accurate diagnosis are, therefore, of major importance for preventing negative patient outcomes. We advocate adopting a national neonatal G6PD screening program in Gaza Strip to identify children at risk and promote wellness and health for Palestine. | This reference emphasizes the importance of early detection and accurate diagnosis to prevent severe outcomes in newborns. |
| PMID:36845240 | SUPPORT | Through this observation, we insist on the importance of neonatal screening in regions with a high prevalence of hemolysis in order to avoid diagnostic delays and also to prioritize the evaluation to be requested in an acute hemolysis state, to propose an education articulated around a preventive approach in children with this disease. | This reference supports neonatal screening and preventive measures to manage G6PD deficiency effectively. |
| PMID:16225031 | SUPPORT | Neonatal hyperbilirubinemia may require treatment with phototherapy or exchange transfusion to prevent kernicterus. | This reference highlights the need for early intervention in neonatal hyperbilirubinemia, which aligns with the statement regarding prevention of severe jaundice through early detection. |
| PMID:27235212 | SUPPORT | Glucose-6-phosphate dehydrogenase (G6PD) deficiency, one of the most common human enzymopathies, is a major risk factor for hyperbilirubinemia and greatly increases the risk of kernicterus even in the developed world. | This reference mentions G6PD deficiency as a significant risk factor for hyperbilirubinemia, which supports the need for early screening and monitoring. |
| name | evidence |
|---|---|
| X-linked recessive | TRUNCATED |