Arthritis, Rheumatoid* ; Glucose-6-Phosphate Isomerase

OBJECTIVETo investigate the diagnostic value and clinical significance of the glucose 6-phosphate dehy-drogenase (G6PD) activity for mediterranean anemia (MA), so as to provide the reference for early clinical diagnosis and treatment of MA.

METHODSThe peripheral blood was collected from 100 healthy persons and 168 patients with MA, then the agarose gel electrophoresis, MA gene detection, blood routine examination, serum ferrium levels and G6PD activity assay were performed, and the results of evaluating MA were comparatively analyzed.

RESULTSThe G6PD activity in all type MA patients was obviously higher than that in healthy controls (P < 0.01), the MCV value in all type MA patients was significantly lower than that in healthy controls (P < 0.01). The detection of G6PD activity showed that the sensitivity, specificity, positive and negative likelihood ratio, diagnostic index and Youden index of G6PD for MA patients were 85.12%, 68%, 2.66, 0.219, 1.53 and 0.53 respectively, which suggest the better efficacy of G6PD value for diagnosis of MA.

CONCLUSIONThe G6PDS activity of patients with MA in different subtypes is higher than that of healthy persons, the G6PD level has a certain diagnostic value for MA, but there is an optimal range.

OBJECTIVE: Anti-glucose-6-phosphate isomerase (GPI) antibody (Ab) is known to be arthritogenic in K/BxN mice. Anti-GPI Ab is present in some patients with rheumatoid arthritis (RA), but their clinical manifestations are not clearly elucidated. The purpose of this study was to evaluate whether GPI serves as a specific autoantigen in patients with RA and to investigate the relationship of anti-GPI Ab with clinical parameters of RA. METHODS: Sera were collected from 54 patients with RA, 15 patients with osteoarthritis (OA) and 28 healthy controls. The samples were tested by enzyme-linked immunosorbent assay (ELISA) using human recombinant GPI as antigen. Patients with RA were classified according to rheumatoid factor (RF) positivity, the presence of RA shared epitope (SE), the presence of extraarticular manifestations, and evidence of bony erosive changes. RESULTS: Serum levels of anti-GPI Ab were higher in patients with RA than controls (1599.46+/-1022.48 versus 344.82+/-223.16 AU, p<0.001), and the levels of patients with OA were also higher than controls (1161.47+/-917.44 versus 344.82+/-223.16 AU, p<0.01). In RA, there were no significant difference in anti-GPI Ab levels according to RF positivity, the presence of RA SE, the presence of extraarticular manifestations, and evidence of bony erosive changes. CONCLUSION: Our results suggest that anti-GPI Ab may not be RA specific Ab and not related to the severity of RA.
Animals ; Arthritis, Rheumatoid* ; Autoantibodies* ; Enzyme-Linked Immunosorbent Assay ; Glucose-6-Phosphate Isomerase* ; Glucose-6-Phosphate* ; Humans ; Mice ; Osteoarthritis ; Rheumatoid Factor

OBJECTIVE: Autoantibody against glucose-6-phosphate isomerase (GPI) has been shown to be present in both the serum and synovial fluid (SF) of patients with rheumatoid arthritis (RA). The purpose of this study was to evaluate whether GPI serves as a specific autoantigen in the SF of patients with RA and to investigate the relationship of anti-GPI antibody with clinical parameters of RA. METHODS: SF was collected from 34 patients with RA and 34 patients with osteoarthritis (OA). The samples were tested by enzyme-linked immunosorbent assay (ELISA) using human recombinant GPI as antigen. Patients with RA were classified according to rheumatoid factor (RF) positivity, the presence of RA shared epitope, the presence of extraarticular manifestations, and evidence of bony erosive changes. RESUTLS: SF levels of anti-GPI antibody were higher in patients with RA than in patients with OA (631.12+/-534.02 AU versus 112.38+/-90.45 AU, p<0.001). In RA, there was no significant difference in SF anti-GPI antibody levels according to RF positivity, the presence of extraarticular manifestations, and evidence of bony erosive changes. CONCLUSION: Autoantibodies to GPI in SF have more related with patients with RA compared with those with OA. In patients with RA, autoantibodies to GPI in SF are not associated with the poor prognostic factors and disease activity of RA.
Arthritis, Rheumatoid* ; Autoantibodies* ; Enzyme-Linked Immunosorbent Assay ; Glucose-6-Phosphate Isomerase* ; Glucose-6-Phosphate* ; Humans ; Osteoarthritis ; Rheumatoid Factor ; Synovial Fluid*

We report a case of an 18-month-old girl with glycogen storage disease type Ib (GSD Ib). Her neutrophil counts had gradually decreased to less than 500/microL by the age of 3 years. However, there were no recurrent bacterial infections. Mutation analysis of the glucose-6-phosphate translocase (G6PT) gene revealed a compound heterozygous missense mutation (Ala148Val/Gly273Asp).
Bacterial Infections ; Glucose-6-Phosphate ; Glycogen ; Glycogen Storage Disease ; Humans ; Infant ; Mutation, Missense ; Neutropenia ; Neutrophils

The effect of dietary zinc deficiency on the enzymatic components of free radical defense system was observed in the skin of rats. We measured the concentration of serum zinc and the enzymatic activities of CuZn superoxide dismutase(CuZn SOD), glucose-6-phosphate dehydrogenase(GGPDH) and glutathione reductase (GSH-RD). The serum zinc level was sig nificantly lower in the zinc-deficient group compared to the zinc-supplemented group after 8 weeks of consuming the diet(P<0.01). CuZn SOD activity was not different between the two groups after 4 weeks. The Zn deficient group showed the significantly decreased activity of G6PDH after 4 and 8 weeks of consuming the diet(P<0.01). The activity of GSH-RD was increased in the zinc-deficient group compared to the supplemented group after 4 weeks of consuming the diet(P<0.01), but after 8 weeks the activity was not different between the two groups. From the results obtained, it could be concluded that GSH-RD may contribute to the oxygen free radical defense system in zinc deficiency in the earlier weeks of consum ing the zinc-deficient diet.
Animals ; Diet ; Glucose-6-Phosphate ; Glucosephosphate Dehydrogenase ; Glutathione Reductase ; Oxygen ; Rats* ; Skin* ; Superoxides ; Zinc*

Glucose-6-phosphate dehydrogenase(G-6-PD) deficiency is a disease that shows hemolytic anemia and jaundice caused by injury of erythrocytes. The gene of G-6-PD has 13 exons and locates in Xq28, and over 150 mutations of this gene have been reported. We experienced a G-6-PD deficienct male patient who was suffering hemolytic anemia and jaundice confirmed by measuring low G-6-PD activity in the erythrocytes. We found point mutation at 1159th nucleotide in 10th exon, cytosine was changed to thymidine, and was confirmed as G-6-PD Guadalajara.
Anemia, Hemolytic ; Cytosine ; Erythrocytes ; Exons ; Glucose-6-Phosphate ; Humans ; Jaundice ; Male ; Point Mutation ; Thymidine

BACKGROUND: Hemolysis is one of the chief side-effects of dapsone. But the frequency and severity of hemolysis have not been fully elucidated in patients with leprosy. OBJECTIVE: The purpose of our study was to determine the effect of dapsone on hematologic profile in patients with leprosy. METHODS: We did a retrospective analysis of the effect of daily dapsone(100mg/day) in 26 newly-registered cases undergoing multi-drug therapy. Complete blood count(CBC) was performed on their initial visit and at intervals between one and six months. In 10 cases, glucose-6-phosphate dehydrogenase(G-6-PD) levels were determined and in 12 cases iron study was performed. RESULTS: 1. The average hemoglobin was found to fall by 2.9+/-1.4g/dl, from 13.2+/-1.5g/dl, to a nadir of 10.5+/-1.5g/dl(p<0.01). 2. In 13 cases in whom red cell profiles were available, there was a hemoglobin fall from 12.8+/-1.5g/dl to 10.8+/-1.7g/dl(p<0.01) and a hematocrit fall from 37.0+/-4.6% to 32.9+/-4.8%(p<0.05). There was a increase in mean corpuscular volume(MCV) from 90.7+/-2.9fl to 95.2+/-2.8fl(p<0.01). The mean corpuscular hemoglobin(MCH) and mean corpuscular hemoglobin concentration(MCHC) changed from 31.3+/-2.3pg/cell to 31.2+/-1.4pg/cell(p<0.05) and from 34.6+/-2.2g/dl to 32.9+/-0.7g/dl(p<0.05), respectively. 3. Ten patients had G-6-PD measured and nine had normal levels. One with a low G-6-PD had a relatively dramatic hemoglobin fall. 4. Serum iron studies in 12 cases revealed reduced serum iron in 6 cases but normal or increased ferritin in all cases and decreased total iron binding capacity(TIBC) in 6 cases. CONCLUSION: After dapsone treatment almost all patients had a fall in their hemoglobin concentration and an increase in MCV. Impaired iron utilization was a common finding and deficiency of G-6-PD may be a factor aggravating the hemolytic effect of dapsone in leprosy patients.
Dapsone* ; Erythrocyte Indices* ; Ferritins ; Glucose-6-Phosphate ; Hematocrit ; Hemolysis ; Humans ; Iron ; Leprosy* ; Retrospective Studies

BACKGROUND: Hemolysis is one of the chief side-effects of dapsone. But the frequency and severity of hemolysis have not been fully elucidated in patients with leprosy. OBJECTIVE: The purpose of our study was to determine the effect of dapsone on hematologic profile in patients with leprosy. METHODS: We did a retrospective analysis of the effect of daily dapsone(100mg/day) in 26 newly-registered cases undergoing multi-drug therapy. Complete blood count(CBC) was performed on their initial visit and at intervals between one and six months. In 10 cases, glucose-6-phosphate dehydrogenase(G-6-PD) levels were determined and in 12 cases iron study was performed. RESULTS: 1. The average hemoglobin was found to fall by 2.9+/-1.4g/dl, from 13.2+/-1.5g/dl, to a nadir of 10.5+/-1.5g/dl(p<0.01). 2. In 13 cases in whom red cell profiles were available, there was a hemoglobin fall from 12.8+/-1.5g/dl to 10.8+/-1.7g/dl(p<0.01) and a hematocrit fall from 37.0+/-4.6% to 32.9+/-4.8%(p<0.05). There was a increase in mean corpuscular volume(MCV) from 90.7+/-2.9fl to 95.2+/-2.8fl(p<0.01). The mean corpuscular hemoglobin(MCH) and mean corpuscular hemoglobin concentration(MCHC) changed from 31.3+/-2.3pg/cell to 31.2+/-1.4pg/cell(p<0.05) and from 34.6+/-2.2g/dl to 32.9+/-0.7g/dl(p<0.05), respectively. 3. Ten patients had G-6-PD measured and nine had normal levels. One with a low G-6-PD had a relatively dramatic hemoglobin fall. 4. Serum iron studies in 12 cases revealed reduced serum iron in 6 cases but normal or increased ferritin in all cases and decreased total iron binding capacity(TIBC) in 6 cases. CONCLUSION: After dapsone treatment almost all patients had a fall in their hemoglobin concentration and an increase in MCV. Impaired iron utilization was a common finding and deficiency of G-6-PD may be a factor aggravating the hemolytic effect of dapsone in leprosy patients.
Dapsone* ; Erythrocyte Indices* ; Ferritins ; Glucose-6-Phosphate ; Hematocrit ; Hemolysis ; Humans ; Iron ; Leprosy* ; Retrospective Studies

OBJECTIVE: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzyme defect. G6PD plays a key role in the pentose phosphate pathway, which is a major source of nicotinamide adenine dinucleotide phosphate (NADPH). NADPH provides the reducing equivalents for oxidation-reduction reductions involved in protecting against the toxicity of reactive oxygen species such as H₂O₂. We hypothesized that G6PD deficiency may reduce the amount of NADPH in sperms, thereby inhibiting the detoxification of H₂O₂, which could potentially affect their motility and viability, resulting in an increased susceptibility to infertility. METHODS: Semen samples were obtained from four males with G6PD deficiency and eight healthy males as a control. In both groups, motile sperms were isolated from the seminal fluid and incubated with 0, 10, 20, 40, 60, 80, and 120 µM concentrations of H2O2. After 1 hour incubation at 37℃, sperms were evaluated for motility and viability. RESULTS: Incubation of sperms with 10 and 20 µM H₂O₂ led to very little decrease in motility and viability, but motility decreased notably in both groups in 40, 60, and 80 µM H₂O₂, and viability decreased in both groups in 40, 60, 80, and 120 µM H₂O₂. However, no statistically significant differences were found between the G6PD-deficient group and controls. CONCLUSION: G6PD deficiency does not increase the susceptibility of sperm to oxidative stress induced by H₂O₂, and the reducing equivalents necessary for protection against H₂O₂ are most likely produced by other pathways. Therefore, G6PD deficiency cannot be considered as major risk factor for male infertility.
Glucose-6-Phosphate* ; Glucosephosphate Dehydrogenase Deficiency* ; Glucosephosphate Dehydrogenase* ; Humans ; Infertility ; Infertility, Male ; Male ; NADP ; Oxidation-Reduction ; Oxidative Stress* ; Pentose Phosphate Pathway ; Reactive Oxygen Species ; Risk Factors ; Semen ; Spermatozoa*