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PubMed2003

Five different glucose-6-phophate [correction phosphate]dehydrogenase (G6PD) variants found among 11 G6PD-deficient persons in Flores Island, Indonesia.

We conducted a survey for malaria diagnosis and treatment in four primary schools in Flores Island, one of the Indonesian Islands with an area of 17000 km(2) and a population of 1.8 million. Of those examined, 24.4% were diagnosed as having malaria (90/363) and administered medicine immediately. A glucose-6-phosphate dehydrogenase (G6PD) test was performed at the same time, and 16 persons (4.4%) were diagnosed as G6PD deficient. Eleven persons consented to analysis of the G6PD genome. We analyzed these subjects and found one case of G6PD Vanua Lava (383T>C), five cases of G6PD Coimbra (592C>T), one case of G6PD Viangchan (871G>A), one case of G6PD Chatham (1003G>A), and three cases of G6PD Kaiping (1388G>A). These were unexpected findings because five different G6PD variants were found in such a small population. This suggests that people of Flores Island are derived from various ancestries.

Genetic Variation↗
PubMedDate not supplied

[Glucose-6-phosphate dehydrogenase deficiency in 2 girls].

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common erythrocyte enzymopathy, affecting over 400 million people worldwide. Portugal is a low prevalence country, but immigrants from endemic regions are common, particularly in the south of the country. In the present study, we report the laboratory findings observed in two black proband children with low G6PD enzyme activity (23 and 18%). The study also included their first-degree relatives. Both biochemical parameters (enzyme activity, electrophoretic mobility and cytochemical test) and genetic determinations (mutation and haplotype characterisation) were performed.

Base Sequence↗
PubMed1981

The role of enzyme variants, polymorphisms and enzyme hybrids in enzyme deficiency conditions.

Based on the heterogeneity observed in two red cell enzymes, i.e. glucose 6-phosphate dehydrogenase (E.C. 1.1.1.49) and catalase (E.C.1.11.1.6), the role of different types of enzyme variants in enzyme deficiency conditions is discussed. For theoretical and practical reasons variants of unusually low specific activity and of low stability have to be distinguished. Whereas in the former type the activity level in blood more or less reflects the situation in other tissues, this is not the case for unstable mutants, e.g. the enzyme variant found in Swiss-type acatalasemia. In heterozygous carriers the situation can be complicated by the fact that variants of oligomer enzymes (e.g. catalase) are present as molecular hybrids exerting almost normal stability and activity.

Acatalasia↗
PubMed1977

G6PD Ube, a glucose-6-phosphate dehydrogenase variant found in four unrelated Japanese families.

A total of 6,120 Japanese males were screened for glucose-6-phosphate dehydrogenase deficiency (G6PD). Five cases with the deficiency were discovered. Two of them and an additional two cases have the same variant, G6PD Ube, characterized by moderate enzyme deficiency, fast moving enzyme activity on electrophoresis, high Ki Nadph, utilization of substrate analogues, kinetics, pH optima, and stability. This variant was distinguished for G6PD A- and from other Oriental variants by biochemical parameters. Differences in the frequency and type of the variants between southern Asia and Japan, suggest that the Japanese who have been isolated on islands where malaria is not endemic, may have developed their own variant traits.

Adult↗
PubMed2004

Novel point mutation in exon 12 of the glucose-6- phosphate dehydrogenase gene: G6PD FLORES.

In Portugal there are a wide variety of G6PD deficiency associated mutations. In an individual from the island of Flores of the Azorean archipelago, we report a new mutation in the G6PD gene that gives rise to a "moderate rate of G6PD deficiency" (12.6% of the normal activity) according to WHO criteria. Direct sequencing revealed a C-->A point mutation at position 1387 with the consequent substitution of an Argine by Serine. We designated this new mutation as G6PD FLORES. The mutation is associated with haplotype I ( - - + + - - ), using six intragenic RFLPs. This information may also be seen as contributing to the clarification of the genetic makeup of the Azorean population, founder mutations, and/or gene flow.

Adolescent↗
PubMedDate not supplied

[Electrophoretic and kinetic properties of the erythrocyte glucose-6-phosphate dehydrogenase of patients with hemolytic anemia related to a deficit in the activity of that enzyme].

Partially purified glucose-6-phosphate dehydrogenase (G6PD) was studied in erythrocytes of patients with hereditary hemolytic anemia. Kinetic and electrophoretic properties of G6PD distinctly varied both in patients--homozygotes and in maternal heterozygotes. All the enzymes studied together with the decreased activity possessed the reduced Km value for NADP and G6P. Anomalous enzymes were shown to differ from normal ones by several patterns (pH-dependency, thermostability, % of the substrate analogues utilization, electrophoretic mobility etc). The mutant variant of G6PD was not described earlier. The anomalies variant was called "Kremenchug" to indicate the place of proband origination.

Chemical Phenomena↗
PubMed1977

[Glucose-6-phosphate dehydrogenase deficiency in Algeria].

The normal level of G6PD activity of the red cells is 6.6 +/- 1.6 i.u/g Hb in men and 6.9 +/- 1.6 i.u./g Hb in women. The histogram of the distribution in the population is not symmetrical. G6PD deficiency is present in Algeria at the national level of 3% (+/- 0.5). The level is less high in the mountainous areas of arab culture, higher in the berber culture and in the Shara. Numerous new variants have been detected in Algeria. The G6PD deficiency predominating in Algeria is of Kabyle type, followed by Laghouat and El-Qued types. Types A-, A+ and Ibaden Austin of negro origin exist in the Sahara population. The Mediterranean type is not found in the Algerian population. The clinical manifestations are rare.

Algeria↗
PubMed1977

A glucose 6-phosphate dehydrogenase Gd (-) Castilla variant characterized by mild deficiency associated with drug-induced hemolytic anemia.

Erythrocyte G-6-PD deficiency is an X-chromosome-linked hereditary trait which is common in many ethnic groups. A deficiency of G-6-PD in red cells is often associated with hemolytic anemia. This report defines a new variant designated as Gd (-) Castilla, which is associated with drug-induced hemolysis. The red cell G-6-PD activity of the variant subject is about 20% of normal. The variant enzyme is thermolabile in vitro and it has faster than normal anodal electrophoretic mobility and normal substrate affinity. The hemolytic problem of the subject might be correlated to sensitivity to NADPH inhibition and molecular instability of the variant enzyme.

Adult↗
PubMed1993

Prevalences of thalassemia/hemoglobinopathies and G-6-PD deficiency in malaria patients.

It seems that thalassemia and/or hemoglobinopathies and glucose-6-phosphate dehydrogenase deficiency (G-6-PD) have some protective effects against malaria infection. To verify this, hemoglobin typing and methehoglobin reduction test were performed on 115 malaria patients and compared with controls. It was found that the number of thalassemia/hemoglobinopathies in the malaria group and in the control group were not significantly different and also occurrence of G-6-PD deficiency in the malaria group was not different from that of the controls. Clinical manifestations of malaria in any group are quite similar. It is concluded that there is no protective effect against malaria in thalassemia/hemoglobinopathies or G-6-PD deficiency.

Adolescent↗
PubMed1978

Membrane polypeptide aggregates in glucose 6-phosphate dehydrogenase-deficient and in vitro aged red blood cells.

RBC membrane polypeptide aggregates have been quantitated by PAGE SDS and by gel filtration. Aggregates were absent in fresh RBC's from normal controls, but aggregates with MW 4.4 X 10(5) and greater than 50 X 10(6) increased progressively as GSH levels fell in RBC's incubated in PBS without added glucose or calcium. Aggregates of both MW ranges were also present in fresh RBC's from a patient with compensated congenital nonspherocytic hemolysis associated with a mutant RBC G-6-PD, Long Prairie. Since the aggregates were dissociable by treatment with mercaptoethanol or dithiothreitol, they are probably cross-linked by intermolecular disulfide bonds. Membranes containing these aggregates may represent an early and sensitive indicator of oxidative damage to red cells.

Erythrocyte Membrane↗
PubMed1988

Glucose-6-phosphate dehydrogenase variants and their frequency in Guangdong, China.

Erythrocyte glucose-6-phosphate dehydrogenase (G6PD) was characterized in blood samples obtained from 97 randomly selected males with enzyme deficiency from various regions of Guangdong Province, China. Nine new variants (Gd Kaiping, Gd Boluo, Gd Huiyang, Gd Gaomin, Gd Qing-Baijiang, Gd Gaozhou, Gd Huazhou, Gd Nanhai, and Gd Guangzhou) were identified. Of the 31 variants found in this province, Gd Kaiping, Gd Taiwan-Hakka, Gd Haad Yai, Gd Haad Yai-like and Gd Huiyang occurred most frequently. The frequency of each variant was calculated. The results demonstrated that the genetic heterogeneity of G6PD deficiency was high in this area.

China↗
PubMed1984

A unique electrophoretic slow-moving glucose 6-phosphate dehydrogenase variant (G6PD Asahikawa) with a markedly acidic pH optimum.

A new glucose 6-phosphate dehydrogenase (G6PD) variant associated with chronic nonspherocytic hemolytic anemia was discovered in Japan. The patient showed hemolytic crises after upper respiratory infections. The enzyme activity was about 3.8% of the normal. The partially purified enzyme revealed slow anodal electrophoretic mobility, high Km NADP, marked thermal-instability, and increased affinity for a substrate analogue (deamino-NADP). A particular characteristic of this enzyme was a biphasic pH curve with a greatly increased activity at low pH values. From these results, this variant was clearly different from hitherto observed G6PD variants, and was designated G6PD Asahikawa.

Anemia, Hemolytic↗
PubMedDate not supplied

Adaptation of Plasmodium falciparum to glucose 6-phosphate dehydrogenase-deficient host red cells by production of parasite-encoded enzyme.

There is impressive evidence from geographical data, studies in the field and in vitro culture work that genetically determined deficiency of glucose 6-phosphate dehydrogenase (G6PD) confers relative protection against the human malaria parasite, Plasmodium falciparum. G6PD is encoded by an X-chromosome-linked gene, and protection phenomenon is manifested in heterozygous females who are genetic mosaics but, surprisingly, not in hemizygous males with complete deficiency. We have shown previously that the parasite, when passaged serially through G6PD-deficient red cells, undergoes adaptive changes that gradually improve its ability to multiply in these deficient cells. To explain the above paradox, we now show that this adaptive process is associated with, and may consist in, the induction of synthesis of a novel G6PD coded by Plasmodium falciparum.

Adaptation, Physiological↗
PubMed1999

Molecular basis of glucose-6-phosphate dehydrogenase deficiency among Filipinos.

BACKGROUND: Multiplex polymerase chain reaction (PCR) using multiple tandem forward primers and a common reverse primer (MPTP) was recently established as a comprehensive scanning system for mutations in X-linked recessive diseases. In this report, MPTP was tested to scan for mutations of the glucose-6-phosphate dehydrogenase (G6PD) gene. METHODS: Mutations in exon 11 of the G6PD gene were screened by MPTP in five unrelated Filipino cases with G6PD deficiency. RESULTS: Of the five patients, four screened positive for a mutation in the gene. Sequencing of the amplified products confirmed that three cases had a C-->T substitution at nucleotide (n.t.) 1360 (C1360T) resulting in an amino acid change of arginine to cysteine at position 454 and one had a silent single base substitution C-->T at nucleotide 1311. CONCLUSION: Our results document a C1360T mutation of the G6PD gene in three Filipino patients in the Philippines.

Amino Acid Sequence↗
PubMedDate not supplied

[Deficiency of glucose-6-phosphate dehydrogenase in a family].

The erytrocyte glucose-6-phosphate deshydrogenase (G6PD) identification and activity were determinated in all member of a family, which was selected because one of the sons showed the clinical signs of hemolitic anemia due to G6PD deficiency and this was confirmed by qualitative fluorescent test, enzyme activity quantification and electrophoretic runs. It was found that two clinically healthy brothers are G6PD deficients and that the mother and one sister are carriers of this enzimatyc defect of the A--variant. As an antecedent it was found that the propositus mother received chloramphenicol treatment for ten days during the first three months of pregnancy. The advantages of the opportune enzymatic studies, with the objective to avoid hemolitic crisis in those G6PD deficient persons, are commented.

Adolescent↗
PubMed1981

Glucose-6-phosphate dehydrogenase deficiency in human platelets and its effect on platelet aggregation.

Platelets from patients with known red blood cell G-6-PD deficiency were investigated to find out whether this genetic defect is associated with changes in platelet aggregation. The enzyme defect in platelets could be verified by a decreased G-6-PD activity which was as low as 15% compared to control subjects. The decreased enzyme activity was reflected by lowered levels of NADPH and GSH and by a diminished maximum capacity of the hexose monophosphate shunt. Aggregation measurements in platelet-rich plasma from deficient patients revealed an enhanced dose response to ADP which was higher by about one order of magnitude compared to controls. The same effect was observed in a smaller degree in arachidonic acid induced aggregation.

Blood Platelets↗
PubMed1984

Aspects of sickle cell gene in Saudi Arabia--interaction with glucose-6-phosphate dehydrogenase deficiency.

Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency and sickle cell haemoglobin (Hb S) are red cell genetic abnormalities that occur at a high frequency in several areas of the world including several areas of Saudi Arabia. Genetic and clinical interactions between these two disorders are reported to occur in some populations. In the present investigations, samples from affected individuals were studied for the prevalence of G-6-PD deficiency and Hb S genes. The results of haematological parameters and common clinical findings in the Hb S homozygotes with and without G-6-PD deficiency are presented and the possibility that the two conditions interact beneficially is discussed.

Anemia, Sickle Cell↗
PubMedDate not supplied

G6PD NanKang (517 T-->C; 173 Phe-->Leu): a new Chinese G6PD variant associated with neonatal jaundice.

Using a non-radioactive PCR-SSCP technique, we identified a novel glucose-6-phosphate dehydrogenase (G6PD) mutation in a Chinese newborn with neonatal jaundice. This new variant (G6PD NanKang) causes a T to C change at nucleotide position 517, producing a Phe173Leu substitution in the human G6PD protein. Since the 517 mutation does not create or remove any known restriction site, we introduced an artificially created site by adding a primer containing a mismatched base to the PCR reaction mixture. The mismatched base accompanying the nearby 517 T-->C mutation generates an XhoI site which is suitable for distinguishing normal from mutant alleles. Using this approach, the 517 mutation can be diagnosed quickly at the DNA level.

Fetal Blood↗