G6PD Deficiency

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Antonio Pinna - One of the best experts on this subject based on the ideXlab platform.

  • Glucose‐6‐phosphate dehydrogenase (G6PD) Deficiency and proliferative diabetic retinopathy in a Sardinian male population, Italy
    Acta Ophthalmologica, 2009
    Co-Authors: Antonio Pinna, Arturo Carta, E Contini, M Giacoboni, Giuliana Solinas
    Abstract:

    Purpose Purpose: The reported incidence of G6PD Deficiency in Sardina, Italy, ranges from 10% to 15%. Hemizygous males have totally deficient erythrocytes. Evidence indicates that patients with G6PD Deficiency are protected against ischemic heart and cerebrovascular disease, retinal vein occlusion, and nonarteritic anterior ischemic optic neuropathy. The purpose of this study was to assess the incidence of G6PD Deficiency in Sardinian men with proliferative diabetic retinopathy (PDR) and ascertain whether G6PD Deficiency may have a protective effect against this vascular disorder. Methods Methods: G6PD blood levels were measured in 524 men with PDR. 1262 non-diabetic men undergoing cataract surgery served as controls. The Z test was used to assess differences in G6PD Deficiency prevalence rates between groups. The odds ratio (OR) was used to evaluate the association between G6PD Deficiency and PDR. Results Results: G6PD Deficiency was found in 30 (5.7%) out of 524 patients with PDR and in 107 (8.5%) out of 1262 controls. Differences between PDR patients and controls were statistically significant (Z = 1.99, P

  • Glucose‐6‐phosphate dehydrogenase (G6PD) Deficiency and senile cataract in a sardinian population, Italy
    Acta Ophthalmologica, 2008
    Co-Authors: A Pes, Giuliana Solinas, Antonio Pinna
    Abstract:

    Purpose There is still no general agreement on the role of G6PD Deficiency in the pathogenesis of cataract. Although G6PD Deficiency has been correlated with cataract in some studies, other reports have showed no correlation. The purpose of this study was to determine the prevalence of G6PD Deficiency in male patients of Sardinian origin with senile cataract and to compare it with the prevalence rate of G6PD Deficiency in the general population of the same area. Methods Erythrocyte G6PD activity was determined using a quantitative assay in 1628 male patients with cataract. The control group consisted of 1646 apparently healthy male patients from the same area described in a former study. Student’s t test was used to determine differences between groups. Results G6PD Deficiency was found in 134 (8.2%) patients with cataract and in 120 (7%) control subjects. Differences between cases and controls were not statistically significant (P=0.78). Conclusion The results of this large study suggest that male patients with G6PD Deficiency in the Sardinian population do not have a higher risk of developing presenile cataract.

  • Glucose-6-phosphate dehydrogenase (G6PD) Deficiency in nonarteritic anterior ischemic optic neuropathy in a Sardinian population, Italy
    Investigative ophthalmology & visual science, 2008
    Co-Authors: Antonio Pinna, C Masia, Giuliana Solinas, A Zinellu, Ciriaco Carru, Arturo Carta
    Abstract:

    PURPOSE. Glucose-6-phosphate dehydrogenase (G6PD) Deficiency is one of the most common human genetic abnormalities, with a high prevalence in Sardinia, Italy. Evidence indicates that G6PD-deficient patients are protected against ischemic heart and cerebrovascular disease and retinal vein occlusion. The purpose of this study was to assess the frequency of G6PD Deficiency in Sardinian patients with nonarteritic anterior ischemic optic neuropathy (NAION) and ascertain whether G6PD Deficiency may offer protection against NAION. METHODS. Erythrocyte G6PD activity was determined by using a quantitative assay in 140 patients with NAION and 280 age- and gender-matched comparison patients. Conditional logistic regression models were used to investigate the association between G6PD Deficiency and NAION. RESULTS. G6PD Deficiency was found in 7 (5%) patients with NAION and 34 (12.1%) control subjects. Differences between cases and controls were statistically significant ( P = 0.02). Conditional logistic regression analysis, including as covariates G6PD Deficiency, hypertension, diabetes, and hypercholesterolemia, revealed that G6PD Deficiency was significantly associated with decreased risk for NAION (odds ratio [OR] = 0.4, 95% confidence interval [CI] = 0.17–0.94, P = 0.035). Conditional logistic regression analyses, including systolic or diastolic blood pressure and plasma glucose and cholesterol levels confirmed that G6PD Deficiency was associated with a decreased risk for NAION, but the ORs were not significant at the 0.05 significance level ( P = 0.085 and P = 0.071). Models including gender x G6PD Deficiency interaction disclosed that gender was not an effect modifier of G6PD Deficiency ( P > 0.20). CONCLUSIONS. The frequency of G6PD Deficiency in patients with NAION was significantly lower than expected. Results suggest that G6PD-deficient patients in the Sardinian population have a significantly decreased risk of having NAION.

  • Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency in anterior ischemic optic neuropathy
    Acta Ophthalmologica Scandinavica, 2007
    Co-Authors: Antonio Pinna, C Masia, Giuliana Solinas, A Zinellu, Arturo Carta
    Abstract:

    Purpose: The reported incidence of G6PD Deficiency in Sardina, Italy, ranges from 10% to 15%. Evidence indicates that patients with G6PD Deficiency are protected against ischemic heart and cerebrovascular disease and retinal vein occlusion. The purpose of this study was to assess the incidence of G6PD Deficiency in Sardinian patients with anterior ischemic optic neuropathy (AION) and ascertain whether G6PD Deficiency may have a protective effect against these vascular disorder. Methods: G6PD blood levels were measured in 153 patients (70 males, 83 females) with AION. 306 age- and sex-matched subjects undergoing cataract surgery and having no history of AION served as controls. Logistic regression models were used to investigate the association between G6PD Deficiency and AION. Results: G6PD Deficiency was found in 7 (4.6%) out of 153 patients with AION and in 37 (12.1%) out of 306 controls. Differences between AION patients and controls were statistically significant (odds ratio: 0.35, 95% confidence interval: 0.15-0.81, P=0.01). Conclusions: The incidence of G6PD Deficiency in Sardinian patients with AION was lower than expected. Results suggest that patients with G6PD Deficiency have a significantly lower risk of developing AION.

Giuliana Solinas - One of the best experts on this subject based on the ideXlab platform.

  • Glucose‐6‐phosphate dehydrogenase (G6PD) Deficiency and proliferative diabetic retinopathy in a Sardinian male population, Italy
    Acta Ophthalmologica, 2009
    Co-Authors: Antonio Pinna, Arturo Carta, E Contini, M Giacoboni, Giuliana Solinas
    Abstract:

    Purpose Purpose: The reported incidence of G6PD Deficiency in Sardina, Italy, ranges from 10% to 15%. Hemizygous males have totally deficient erythrocytes. Evidence indicates that patients with G6PD Deficiency are protected against ischemic heart and cerebrovascular disease, retinal vein occlusion, and nonarteritic anterior ischemic optic neuropathy. The purpose of this study was to assess the incidence of G6PD Deficiency in Sardinian men with proliferative diabetic retinopathy (PDR) and ascertain whether G6PD Deficiency may have a protective effect against this vascular disorder. Methods Methods: G6PD blood levels were measured in 524 men with PDR. 1262 non-diabetic men undergoing cataract surgery served as controls. The Z test was used to assess differences in G6PD Deficiency prevalence rates between groups. The odds ratio (OR) was used to evaluate the association between G6PD Deficiency and PDR. Results Results: G6PD Deficiency was found in 30 (5.7%) out of 524 patients with PDR and in 107 (8.5%) out of 1262 controls. Differences between PDR patients and controls were statistically significant (Z = 1.99, P

  • Glucose‐6‐phosphate dehydrogenase (G6PD) Deficiency and senile cataract in a sardinian population, Italy
    Acta Ophthalmologica, 2008
    Co-Authors: A Pes, Giuliana Solinas, Antonio Pinna
    Abstract:

    Purpose There is still no general agreement on the role of G6PD Deficiency in the pathogenesis of cataract. Although G6PD Deficiency has been correlated with cataract in some studies, other reports have showed no correlation. The purpose of this study was to determine the prevalence of G6PD Deficiency in male patients of Sardinian origin with senile cataract and to compare it with the prevalence rate of G6PD Deficiency in the general population of the same area. Methods Erythrocyte G6PD activity was determined using a quantitative assay in 1628 male patients with cataract. The control group consisted of 1646 apparently healthy male patients from the same area described in a former study. Student’s t test was used to determine differences between groups. Results G6PD Deficiency was found in 134 (8.2%) patients with cataract and in 120 (7%) control subjects. Differences between cases and controls were not statistically significant (P=0.78). Conclusion The results of this large study suggest that male patients with G6PD Deficiency in the Sardinian population do not have a higher risk of developing presenile cataract.

  • Glucose-6-phosphate dehydrogenase (G6PD) Deficiency in nonarteritic anterior ischemic optic neuropathy in a Sardinian population, Italy
    Investigative ophthalmology & visual science, 2008
    Co-Authors: Antonio Pinna, C Masia, Giuliana Solinas, A Zinellu, Ciriaco Carru, Arturo Carta
    Abstract:

    PURPOSE. Glucose-6-phosphate dehydrogenase (G6PD) Deficiency is one of the most common human genetic abnormalities, with a high prevalence in Sardinia, Italy. Evidence indicates that G6PD-deficient patients are protected against ischemic heart and cerebrovascular disease and retinal vein occlusion. The purpose of this study was to assess the frequency of G6PD Deficiency in Sardinian patients with nonarteritic anterior ischemic optic neuropathy (NAION) and ascertain whether G6PD Deficiency may offer protection against NAION. METHODS. Erythrocyte G6PD activity was determined by using a quantitative assay in 140 patients with NAION and 280 age- and gender-matched comparison patients. Conditional logistic regression models were used to investigate the association between G6PD Deficiency and NAION. RESULTS. G6PD Deficiency was found in 7 (5%) patients with NAION and 34 (12.1%) control subjects. Differences between cases and controls were statistically significant ( P = 0.02). Conditional logistic regression analysis, including as covariates G6PD Deficiency, hypertension, diabetes, and hypercholesterolemia, revealed that G6PD Deficiency was significantly associated with decreased risk for NAION (odds ratio [OR] = 0.4, 95% confidence interval [CI] = 0.17–0.94, P = 0.035). Conditional logistic regression analyses, including systolic or diastolic blood pressure and plasma glucose and cholesterol levels confirmed that G6PD Deficiency was associated with a decreased risk for NAION, but the ORs were not significant at the 0.05 significance level ( P = 0.085 and P = 0.071). Models including gender x G6PD Deficiency interaction disclosed that gender was not an effect modifier of G6PD Deficiency ( P > 0.20). CONCLUSIONS. The frequency of G6PD Deficiency in patients with NAION was significantly lower than expected. Results suggest that G6PD-deficient patients in the Sardinian population have a significantly decreased risk of having NAION.

  • Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency in anterior ischemic optic neuropathy
    Acta Ophthalmologica Scandinavica, 2007
    Co-Authors: Antonio Pinna, C Masia, Giuliana Solinas, A Zinellu, Arturo Carta
    Abstract:

    Purpose: The reported incidence of G6PD Deficiency in Sardina, Italy, ranges from 10% to 15%. Evidence indicates that patients with G6PD Deficiency are protected against ischemic heart and cerebrovascular disease and retinal vein occlusion. The purpose of this study was to assess the incidence of G6PD Deficiency in Sardinian patients with anterior ischemic optic neuropathy (AION) and ascertain whether G6PD Deficiency may have a protective effect against these vascular disorder. Methods: G6PD blood levels were measured in 153 patients (70 males, 83 females) with AION. 306 age- and sex-matched subjects undergoing cataract surgery and having no history of AION served as controls. Logistic regression models were used to investigate the association between G6PD Deficiency and AION. Results: G6PD Deficiency was found in 7 (4.6%) out of 153 patients with AION and in 37 (12.1%) out of 306 controls. Differences between AION patients and controls were statistically significant (odds ratio: 0.35, 95% confidence interval: 0.15-0.81, P=0.01). Conclusions: The incidence of G6PD Deficiency in Sardinian patients with AION was lower than expected. Results suggest that patients with G6PD Deficiency have a significantly lower risk of developing AION.

Arturo Carta - One of the best experts on this subject based on the ideXlab platform.

  • glucose 6 phosphate dehydrogenase G6PD Deficiency and senile cataract in a sardinian male population italy
    Ophthalmic Epidemiology, 2009
    Co-Authors: Antonio Daniele Pinna, A Zinellu, Arturo Carta, G Solinas
    Abstract:

    Purpose: There is still no general agreement on the role of G6PD Deficiency in the pathogenesis of cataract. The purpose of this study was to determine the prevalence of G6PD Deficiency in men with senile cataract from Northern Sardinia, Italy, and to compare it with the prevalence rate of G6PD Deficiency in the general population of the same area.Methods: G6PD activity was determined by using a quantitative method. G6PD blood levels were measured in 1,620 men with cataract. The control group consisted of 1,646 apparently healthy male subjects from the same area. All patients were of Sardinian origin. The Z or Student’s t test was used, when appropriate, to determine differences between groups. The odds ratio (OR) with 95% confidence interval was used to evaluate the association between age-related cataract and G6PD Deficiency.Results: G6PD Deficiency was found in 133 (8.2%) out of 1,620 patients with cataract and in 120 (7%) out of 1,646 control subjects. Differences in G6PD prevalence between cataract p...

  • Glucose‐6‐phosphate dehydrogenase (G6PD) Deficiency and proliferative diabetic retinopathy in a Sardinian male population, Italy
    Acta Ophthalmologica, 2009
    Co-Authors: Antonio Pinna, Arturo Carta, E Contini, M Giacoboni, Giuliana Solinas
    Abstract:

    Purpose Purpose: The reported incidence of G6PD Deficiency in Sardina, Italy, ranges from 10% to 15%. Hemizygous males have totally deficient erythrocytes. Evidence indicates that patients with G6PD Deficiency are protected against ischemic heart and cerebrovascular disease, retinal vein occlusion, and nonarteritic anterior ischemic optic neuropathy. The purpose of this study was to assess the incidence of G6PD Deficiency in Sardinian men with proliferative diabetic retinopathy (PDR) and ascertain whether G6PD Deficiency may have a protective effect against this vascular disorder. Methods Methods: G6PD blood levels were measured in 524 men with PDR. 1262 non-diabetic men undergoing cataract surgery served as controls. The Z test was used to assess differences in G6PD Deficiency prevalence rates between groups. The odds ratio (OR) was used to evaluate the association between G6PD Deficiency and PDR. Results Results: G6PD Deficiency was found in 30 (5.7%) out of 524 patients with PDR and in 107 (8.5%) out of 1262 controls. Differences between PDR patients and controls were statistically significant (Z = 1.99, P

  • Glucose-6-phosphate dehydrogenase (G6PD) Deficiency in nonarteritic anterior ischemic optic neuropathy in a Sardinian population, Italy
    Investigative ophthalmology & visual science, 2008
    Co-Authors: Antonio Pinna, C Masia, Giuliana Solinas, A Zinellu, Ciriaco Carru, Arturo Carta
    Abstract:

    PURPOSE. Glucose-6-phosphate dehydrogenase (G6PD) Deficiency is one of the most common human genetic abnormalities, with a high prevalence in Sardinia, Italy. Evidence indicates that G6PD-deficient patients are protected against ischemic heart and cerebrovascular disease and retinal vein occlusion. The purpose of this study was to assess the frequency of G6PD Deficiency in Sardinian patients with nonarteritic anterior ischemic optic neuropathy (NAION) and ascertain whether G6PD Deficiency may offer protection against NAION. METHODS. Erythrocyte G6PD activity was determined by using a quantitative assay in 140 patients with NAION and 280 age- and gender-matched comparison patients. Conditional logistic regression models were used to investigate the association between G6PD Deficiency and NAION. RESULTS. G6PD Deficiency was found in 7 (5%) patients with NAION and 34 (12.1%) control subjects. Differences between cases and controls were statistically significant ( P = 0.02). Conditional logistic regression analysis, including as covariates G6PD Deficiency, hypertension, diabetes, and hypercholesterolemia, revealed that G6PD Deficiency was significantly associated with decreased risk for NAION (odds ratio [OR] = 0.4, 95% confidence interval [CI] = 0.17–0.94, P = 0.035). Conditional logistic regression analyses, including systolic or diastolic blood pressure and plasma glucose and cholesterol levels confirmed that G6PD Deficiency was associated with a decreased risk for NAION, but the ORs were not significant at the 0.05 significance level ( P = 0.085 and P = 0.071). Models including gender x G6PD Deficiency interaction disclosed that gender was not an effect modifier of G6PD Deficiency ( P > 0.20). CONCLUSIONS. The frequency of G6PD Deficiency in patients with NAION was significantly lower than expected. Results suggest that G6PD-deficient patients in the Sardinian population have a significantly decreased risk of having NAION.

  • Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency in anterior ischemic optic neuropathy
    Acta Ophthalmologica Scandinavica, 2007
    Co-Authors: Antonio Pinna, C Masia, Giuliana Solinas, A Zinellu, Arturo Carta
    Abstract:

    Purpose: The reported incidence of G6PD Deficiency in Sardina, Italy, ranges from 10% to 15%. Evidence indicates that patients with G6PD Deficiency are protected against ischemic heart and cerebrovascular disease and retinal vein occlusion. The purpose of this study was to assess the incidence of G6PD Deficiency in Sardinian patients with anterior ischemic optic neuropathy (AION) and ascertain whether G6PD Deficiency may have a protective effect against these vascular disorder. Methods: G6PD blood levels were measured in 153 patients (70 males, 83 females) with AION. 306 age- and sex-matched subjects undergoing cataract surgery and having no history of AION served as controls. Logistic regression models were used to investigate the association between G6PD Deficiency and AION. Results: G6PD Deficiency was found in 7 (4.6%) out of 153 patients with AION and in 37 (12.1%) out of 306 controls. Differences between AION patients and controls were statistically significant (odds ratio: 0.35, 95% confidence interval: 0.15-0.81, P=0.01). Conclusions: The incidence of G6PD Deficiency in Sardinian patients with AION was lower than expected. Results suggest that patients with G6PD Deficiency have a significantly lower risk of developing AION.

Roshan B. Colah - One of the best experts on this subject based on the ideXlab platform.

  • Molecular basis of G6PD Deficiency in India.
    Blood cells molecules & diseases, 2004
    Co-Authors: Sridevi Sukumar, Roshan B. Colah, Malay B. Mukherjee, Dipika Mohanty
    Abstract:

    Abstract G6PD Deficiency has been reported from India more than 30 years ago and about 13 variants have been characterized biochemically. Here, we report the results of an epidemiological study investigating G6PD Deficiency and the mutations among 14 heterogenous populations of India. Of the 3166 males tested, 332 (10.5%) were found to be G6PD-deficient and the prevalence rate varied from 5.7% to 27.9% in the different population groups. Molecular characterization revealed that G6PD Mediterranean (563 C→T) was the commonest (60.4%) deficient variant followed by G6PD Kerala–Kalyan (949 G→A; 24.5%) and G6PD Orissa (131 C→G; 13.3%). G6PD Mediterranean had a more widespread distribution as compared to G6PD Kerala–Kalyan and G6PD Orissa and was associated with both 1311 C and 1311 T polymorhism. G6PD Mediterranean was found to have significantly lower red cell enzyme activity and more severe clinical manifestations than the other two. G6PD Chatham (1003 G→A) with undetected red cell enzyme activity and G6PD Insuli (989 G→A) with normal G6PD activity were very rare in the Indian population. The absence of a large number of mutations causing G6PD Deficiency points to the fact that the genetic diversity of these populations is considerably lowered than expected.

  • High prevalence of G6PD Deficiency in Vataliya Prajapati community in western India
    Haematologia, 2001
    Co-Authors: S. R. Joshi, R. Z. Patel, H. R. Patel, S. Sukumar, Roshan B. Colah
    Abstract:

    Objective. Sporadic cases of drug-induced haemolytic anaemia due to glucose-6-phosphate dehydrogenase (G6PD) Deficiency in patients belonging to Vataliya Prajapati community prompted us to study the prevalence of G6PD Deficiency in the community. Methods. Screening for G6PD Deficiency was carried out using the dichlorophenol-indophenol (DPIP) dye decolorization method. Results. A total of 471 individuals were screened. Of these, 385 unrelated individuals were considered to calculate the prevalence of G6PD Deficiency. Among 272 unrelated males, 76 persons (27.94%) and among 113 unrelated females, 11 individuals (9.73%) were found to be G6PD deficient. A quantitative assay on 41 of the G6PD deficient samples showed the enzyme activity ranged from 0-0.5 unit/ml RBC/min. Conclusion. The prevalence of G6PD Deficiency in Vataliya Prajapatis community was found to be the highest ever reported in the Indian caste-groups population studied so far.

A Pes - One of the best experts on this subject based on the ideXlab platform.

  • Glucose‐6‐phosphate dehydrogenase (G6PD) Deficiency and senile cataract in a sardinian population, Italy
    Acta Ophthalmologica, 2008
    Co-Authors: A Pes, Giuliana Solinas, Antonio Pinna
    Abstract:

    Purpose There is still no general agreement on the role of G6PD Deficiency in the pathogenesis of cataract. Although G6PD Deficiency has been correlated with cataract in some studies, other reports have showed no correlation. The purpose of this study was to determine the prevalence of G6PD Deficiency in male patients of Sardinian origin with senile cataract and to compare it with the prevalence rate of G6PD Deficiency in the general population of the same area. Methods Erythrocyte G6PD activity was determined using a quantitative assay in 1628 male patients with cataract. The control group consisted of 1646 apparently healthy male patients from the same area described in a former study. Student’s t test was used to determine differences between groups. Results G6PD Deficiency was found in 134 (8.2%) patients with cataract and in 120 (7%) control subjects. Differences between cases and controls were not statistically significant (P=0.78). Conclusion The results of this large study suggest that male patients with G6PD Deficiency in the Sardinian population do not have a higher risk of developing presenile cataract.