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PubMed1991

G6PD deficiency and fava bean consumption do not produce hemolysis in Thailand.

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. However, it is not well documented among the Thais or other Southeast Asians. It is possible that it does exist but that hemolysis which develops is of very minor degree and thus escapes clinical detection. This cross-sectional study hypothesizes that if the fava bean and G6PD deficiency interact in the Thai population, they should cause a significant difference in hematocrit level. The study was carried out in a community hospital in a malaria endemic area. We found that there was a trivial difference of the hematocrit (approximately 1%) which was too small to warrant any clinical significance after controlling for the extraneous effects of age, sex, use of malaria chemoprophylaxis, falciparum infection, use of analgesics/antipyretics and admission status of the patients (p = 0.668). This may be due to the presence of different G6PD mutants to those found elsewhere or due to different consumption patterns of fava beans among the Thais compared to people in other areas with high prevalence of G6PD deficiency.

Adolescent↗
PubMed1989

Incidence of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Tunisian populations.

Screening for glucose-6-phosphate dehydrogenase (G6PD) deficiency was performed on male students originating from several towns in Tunisia. Three hundred and twenty-five assays were made, allowing calculation of the mean value and standard deviation of G6PD (6.32 +/- 0.72 U/g Hb), the incidence of the deficiency (1.84%) and its geographic distribution in Tunisia. G6PD electrophoresis in 54 subjects showed marked predominance of the B+ type (96.2%) compared with the A+ type (1.96%). Three deficient subjects displayed an electrophotetic mobility identical to that of the A+ type of G6PD.

Adult↗
PubMed1986

Haematological study in Cabo Delgado province, Mozambique; sickle cell trait and G6PD deficiency.

A haematological study was done in several villages in the northern province of Cabo Delgado in Mozambique. The prevalence of sickle cell trait (HbAS) was found to be about 4%. The prevalence of G6PD deficiency in males was about 18%. No significant differences were found in haemoglobin values between HbAA and HbAS individuals and between G6PD deficient and G6PD normal individuals. The number of males with both HbAS and G6PD deficiency was not significantly greater than expected.

Adolescent↗
PubMed1982

[Separation of red blood cells from G6PD-deficient patients in dextran density gradients].

Red blood cells of 30 patients with G6PD deficiency were separated and characterized by means of isopyknic dextran density gradient centrifugation. The simultaneous determination of G6PD activity and the percentage of NADPH deficiency cells in relation to the maturation parameters of density, reticulocyte share, GOT and PK activity made it possible to recognize differences in the maturation of red blood cells with G6PD deficiency in normal persons as well as within a group of patients. In each case the more or less diminished enzyme activity of the cell suspension was accompanied by a marked enzyme deficiency of the youngest fraction. It is possible that NADPH defect cells are being eliminated at first. In many cases a direct correlation between the percentage of "empty cells" and the in vitro stability tests with and without NADP+ addition could be identified. Decreased maximal speed, changed kinetic behaviour, and instability of these variants are stressed as being the decisive parameters for the life expectation of red blood cells in patients with G6PD deficiency.

Anemia, Hemolytic↗
PubMed1984

A prospective study of the role of bacterial infection and G6PD deficiency in severe neonatal jaundice in Nigeria.

109 Nigerian neonates with serum bilirubin of 12 mg% and above, who presented at the Children's Emergency Room of the University College Hospital, Ibadan between November 1980 and February 1981 were investigated for bacterial sepsis and other causes of hyperbilirubinaemia. A detailed history of exposure to drugs likely to be icterogenic was also taken. Of the 109 infants, 67 (62%) were G6PD deficient and 41 (67%) of the latter had no obvious cause for the precipitation of jaundice. However 106 (97%) of the jaundiced infants had been exposed to agents capable of causing haemolysis in G6PD deficiency; 24 (22%) had bacteriologically proven septicaemia and in only five (4.6%) was sepsis the sole cause of hyperbilirubinaemia. There was no significant differences in the frequency of bacteriologically proven sepsis between the infants with normal or deficient G6PD status. Septicaemia however significantly increased the severity of jaundice among G6PD deficient infants. This study suggests that infection is common in severely jaundiced Nigerian infants and there is a need to reassess the role of exogenous agents in the pathogenesis of neonatal hyperbilirubinaemia in our community.

Bacterial Infections↗
PubMed1984

G6PD isoenzyme analysis of myeloid and lymphoid cells in human multilineage colonies.

Some multilineage hemopoietic colonies contain, in addition to myeloid cells, T lymphocytes. These proliferate extensively in liquid suspension culture under the influence of a T cell growth factor provided by phytohemagglutinin-T cell-conditioned medium (PHA-TCM). The clonal origin of these myeloid and lymphoid components was investigated by determining the glucose-6-phosphate dehydrogenase (G6PD) isoenzyme types of multilineage colonies grown from peripheral blood of 4 G6PD heterozygous normal volunteers. The G6PD assay is sufficiently sensitive to detect enzyme concentrations contributed by as few as 30 granulocytes and erythroblasts, 4-6 megakaryocytes, 2-3 macrophages, and 50-100 T cells. T cell components can be detected even if myeloid cells are present in 10-20-fold excess. A small number of multilineage colonies with T cells produced a single G6PD isoenzyme on direct analysis and after expansion in liquid culture. This observation supports the view of a common progenitor for myeloid and lymphoid cells in the peripheral blood of normal adults.

Adult↗
PubMed1994

Fructosamine in HbS and G6PD-deficient Saudi Arabs in the Eastern Province of Saudi Arabia.

Plasma fructosamine, total proteins and albumin were estimated in a group of 77 sickle cell anaemia and 32 glucose-6-phosphate dehydrogenase (G6PD)-deficient Saudi Arabs and the results compared with those obtained in a group of 30 normal controls. The mean values of fructosamine in the sickle cell anaemia and G6PD-deficient patients were not statistically different from those of the controls. The mean values of the total proteins and albumin were also not significantly different from those of the normal group. It is concluded that fructosamine level is not affected by sickle cell anaemia and G6PD deficiency, and provides a useful tool for monitoring diabetic patients in regions with high prevalence of haemoglobinopathies and G6PD deficiency.

Adolescent↗
PubMed1976

Variability of red cell phenotypes between and within individuals in an unbiased sample of 77 heterozygotes for G6PD deficiency in Sardinia.

The distribution of G6PD red blood phenotypes in an unbiased sample of 77 Sardinian certain heterozygotes for the GdMediterranean mutant was found to be skewed in favor of the G6PD (+) cells. Four of these individuals exhibited the normal hemizygous phenotype in all of their cells, but two of them had a mosaic population of G6PD (+) and (-) red blood cells when reexamined after 1 year. These findings suggest that somatic selection may be the main factor determining the phenotype variability of individual somatic cells in highly differentiated tissues of heterozygotes at the G6PD locozygotes for the GdMediterranean mutant should not be used as a criterion for precise estimation of the embryonic or stem tissue cell pool at X inactivation.

Erythrocytes↗
PubMed2000

Clonality analysis of defined cell populations in paraffin-embedded tissue sections by RT-PCR amplification of X-linked G6PD gene.

This paper establishes a method of clonality analysis using the reverse transcription-polymerase chain reaction (RT-PCR) to amplify X-linked G6PD transcripts on defined cell populations microdissected from archival, paraffin-embedded tissue sections. Four known monoclonal low-grade B-cell lymphomas from females who were heterozygous (informative) at the 1131 exonic polymorphic locus of the G6PD gene were used to validate the method. Lymphoma and reactive lesions in each case were separated by microdissection. In order to preserve the intact RNA species in the lesion, sections were digested on the slides before microdissection. A one-step RT-PCR was performed with a single pair of primers, one of which contained a mismatched base adjacent to the polymorphic site, to generate a PvuI cutting site. Successful amplification and allele identification by PvuI digestion were achieved from all RNA samples studied. Three of four samples from non-neoplastic reactive lesions showed two bands with equal intensity, representing transcription of the two alleles of the G6PD gene, while the corresponding tumour samples demonstrated a biased intensity in one allele, indicating monoclonality. To assess the method further, the clonal nature of in situ and invasive breast cancers was examined, along with adjacent normal breast tissue and hyperplastic lesions from three informative females from our archives. Apart from the clusters of normal terminal duct-lobular units, all lesions were monoclonal. This result is in agreement with data derived from other X-linked gene studies and loss of heterozygosity (LOH) analyses of pre-invasive breast disease. The results suggest that the clonality analysis method presented here is simple and reliable, and is therefore potentially applicable in a wide range of pathological conditions.

Breast↗
PubMed1990

Serum and red blood cell magnesium, copper, and zinc content in G6PD deficiency.

Sixty-nine G6PD-deficient and 67 normal non-deficient Chinese adult males were investigated for blood hemoglobin concentration and for serum and red cell content of magnesium, copper, and zinc. There was no significant difference in blood hemoglobin content. Both the serum magnesium and copper content were found to be significantly lower in the G6PD-deficient subjects compared to that in the non-deficient control. Serum zinc content and red cell content of all the three metals were not significantly altered in G6PD deficiency.

Adult↗
PubMed1994

Molecular abnormality of a unique Japanese glucose-6-phosphate dehydrogenase variant (G6PD Kobe) with a greatly increased affinity for galactose-6-phosphate.

Systematic molecular analysis of a Japanese class 1 glucose-6-phosphate dehydrogenase (G6PD) variant (G6PD Kobe) cDNA revealed a unique nucleotide substitution (1318 C to T) in exon 11, which predicts a substitution of leucine for phenylalanine at residue 440. This substitution is located in a region surrounding the putative structural NADP-binding domain. The markedly abnormal kinetics of glucose-6-phosphate (G6P) of G6PD Kobe suggest the interaction between both NADP and G6P binding sites.

Base Sequence↗
PubMed1991

Premutation for the Martin-Bell syndrome analyzed in a large pedigree segregating also for G6PD-deficiency. I: A working hypothesis on the nature of the FRAX-mutations.

A large Sardinian family including 13 Martin-Bell syndrome (MBS) patients, several instances of normal transmitting males or females, and the G6PD-Mediterranean mutant segregating in some of its branches, has been thoroughly investigated with the hope of gaining further insight on the nature of the FRAX-mutation. All the MBS patients and the 15 obligate heterozygous women present in the pedigree could be traced back through their X-chromosome lineage to the same ancestress, who must have been heterozygous for a silent premutation at the FRAX-locus. This premutation appears to have turned into a true FRAX-mutation at least 9 times during the gametogenesis of the ancestress' X-related descendants of whom four are males. This finding alone suggests that the transition from the FRAX premutation to the true mutation can be the result of intra- as well as interchromosomal events. This conclusion is supported by the additional observation that the genetic phase between the FRAX and the G6PD loci remained unaltered when the transition occurred in a repulsion double heterozygote for the premutation and the G6PD-Mediterranean mutant. The data described are compatible with the hypothesis that MBS patients and normal transmitting males are, respectively, hemizygous for deletion or duplication products generated by aberrant recombination events at a highly recombinogenic site of the region Xq27-Xqter. The overall message stemming from this report is that no firm conclusion can be drawn on the genetic linkage between the FRAX-locus and other markers of this region until the nature of the FRAX-mutations and the mechanism of their occurrence are fully understood.

Adult↗
PubMed2002

G6PDdb, an integrated database of glucose-6-phosphate dehydrogenase (G6PD) mutations.

G6PDdb (http://www.rubic.rdg.ac.uk/g6pd/ or http://www.bioinf.org.uk/g6pd/) is a newly created web-accessible locus-specific mutation database for the human Glucose-6-phosphate dehydrogenase (G6PD) gene. The relational database integrates up-to-date mutational and structural data from various databanks (GenBank, Protein Data Bank, etc.) with biochemically characterized variants and their associated phenotypes obtained from published literature and the Favism website. An automated analysis of the mutations likely to have a significant impact on the structure of the protein has been performed using a recently developed procedure. The database may be queried online and the full results of the analysis of the structural impact of mutations are available. The web page provides a form for submitting additional mutation data and is linked to resources such as the Favism website, OMIM, HGMD, HGVBASE, and the PDB. This database provides insights into the molecular aspects and clinical significance of G6PD deficiency for researchers and clinicians and the web page functions as a knowledge base relevant to the understanding of G6PD deficiency and its management.

Databases, Genetic↗
PubMedDate not supplied

Severe jaundice in a patient with a previously undescribed glucose-6-phosphate dehydrogenase (G6PD) mutation and Gilbert syndrome.

A patient with chronic hemolytic anemia and G6PD deficiency was noted to be severely jaundiced and to have a high serum ferritin level. Analysis of his DNA revealed only heterozygosity for the c.187 C-->G (H63D) mutation of HFE, but showed that he was homozygous for the UDP glucuronosyltransferase promoter mutation of Gilbert's disease and that he had a previously undescribed mutation of G6PD, c.832 T-->C (Ser278Pro). The new variant was named G6PD La Jolla.

Adult↗
PubMed1990

A new glucose-6-phosphate dehydrogenase variant with congenital nonspherocytic hemolytic anemia (G6PD Genova). Biochemical characterization and mosaicism expression in the heterozygote.

A new deficient variant of glucose-6-phosphate dehydrogenase (G6PD) causing severe congenital nonspherocytic hemolytic anemia (CNSHA) is described. The variant enzyme, characterized by slow electrophoretic mobility, extreme in vivo and in vitro lability, high Km for G6P and strongly acidic pH optimum, appears to be unique, and has been designated G6PD Genova. Investigation of an obligate heterozygote using various cytochemical, biochemical and recombinant-DNA techniques showed G6PD mosaicism in the erythrocytes and leukocytes. Therefore, the presence of a disadvantageous mutation at one Gd locus did not determine selection in favor of the normal allele in the heterozygote's hemopoietic cells.

Anemia, Hemolytic, Congenital↗
PubMed1995

Molecular basis of glucose-6-phosphate dehydrogenase (G6PD) deficiency in three Taiwan aboriginal tribes.

We have investigated glucose-6-phosphate dehydrogenase (G6PD) deficiency in 220 unrelated aboriginal male subjects who belong to three different tribes (Saisiat, Ami, and Yami) in Taiwan. Our results show that the G6PD deficiency rates for Saisiat, Ami, and Yami people are 9.0% (6/67), 6.1% (6/99), and 0% (0/54), respectively. Among these deficiency cases, 4 of 6 (66.7%) Saisiat subjects have the 493 A-->G mutation and one carries the 1376 G-->T mutation, whereas, in Ami subjects, we found that four of six (66.7%) affected males have the 592 C-->T mutation and one carries the 493 A-->G mutation. These results contrast with our previous findings for Taiwan Chinese, in whom the 1376 G-->T mutation is the major mutant allele and accounts for 52.3% of the deficiency cases. This is the first report of G6PD deficiency characterized at the DNA level in Taiwan aboriginal populations.

Base Sequence↗
PubMed1984

G6PD Cagliari: a new low activity glucose 6-phosphate dehydrogenase variant characterized by enhanced intracellular lability.

A new variant of human erythrocyte glucose 6-phosphate dehydrogenase (G6PD), designated G6PD Cagliari, has been characterized. It is associated with severe enzyme deficiency and can be placed in Class 2 of the usual tabulation of G6PD variants. The specific activity of this variant is near normal, while its decay within the circulating erythrocytes is very rapid compared with normals. Genetic analysis of the family of the propositus indicated that the two available females are heterozygotes characterized by extremely unbalanced mosaic phenotypes.

Adolescent↗
PubMed1979

Characterization of some erythrocyte G6PD variants by isoelectric focusing.

The existence of a microheterogeneity of glucose-6-phosphate dehydrogenase (G6PD) in human erythrocyte lysates has been previously demonstrated using isoelectric focusing (Der Kaloustian et al., 1974; Turner et al., 1975). The application of this method, modified in some aspects, to the identification of various G6PD variants led to interesting conclusions. The results reported here have been obtained from a study of four distinct molecular types: Gd(-) Mediterranean, Gd(-) Kabyle, the African Gd(+) A, and a new almost undescribed G6PD variant with severe enzyme deficiency named Gd(-) Muret.

Adolescent↗