Glucose-6-phosphate dehydrogenase (G6PD) mutations and haemoglobinuria syndrome in the Vietnamese population

Huệ, Nguyễn Thị; Charlieu, Jean-Paul; Chau, Tran Thi Hong; Day, Nick; Farrar, Jeremy; Hien, Tran Tinh; Dunstan, Sarah J.

doi:10.1186/1475-2875-8-152

Cited by 36 publications

(38 citation statements)

References 29 publications

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“…Finally, we found four mutants that did not classified according to their residual enzyme activity: G6PD Shanghai (Ala231Pro, exon 7) [48], G6PD Karachi (Asp325Asn, exon 9) [49], G6PD Vietnam 1 (Glu3Lys, exon 2) [50], and G6PD Vietnam 2 (Phe66Cys, exon 4) [50] which are shown in the Figure 4.…”

Section: Molecular Characterization Of G6pd Variantsmentioning

confidence: 99%

“…Additionally, the four mutants that were not described by Minucchi’s review [34] and that have not been classified according to their residual enzyme activity are the mutants G6PD Vietnam 1 (G7A; Glu3Lys) and Vietnam 2 (T197G; Phe66Cys) detected in the Vietnamese population with hemoglobinuria [50] (Figure 4). The G6PD Shanghai is a novel missense mutation (G691C) in exon 7 of the G6PD producing an Ala231Pro substitution and leading to significantly decreased of G6PD activity in red blood cells.…”

Section: Molecular Characterization Of G6pd Variantsmentioning

confidence: 99%

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Glucose-6-Phosphate Dehydrogenase: Update and Analysis of New Mutations around the World

Gómez-Manzo

Marcial-Quino

Vanoye-Carlo

et al. 2016

IJMS

177

147

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Glucose-6-phosphate dehydrogenase (G6PD) is a key regulatory enzyme in the pentose phosphate pathway which produces nicotinamide adenine dinucleotide phosphate (NADPH) to maintain an adequate reducing environment in the cells and is especially important in red blood cells (RBC). Given its central role in the regulation of redox state, it is understandable that mutations in the gene encoding G6PD can cause deficiency of the protein activity leading to clinical manifestations such as neonatal jaundice and acute hemolytic anemia. Recently, an extensive review has been published about variants in the g6pd gene; recognizing 186 mutations. In this work, we review the state of the art in G6PD deficiency, describing 217 mutations in the g6pd gene; we also compile information about 31 new mutations, 16 that were not recognized and 15 more that have recently been reported. In order to get a better picture of the effects of new described mutations in g6pd gene, we locate the point mutations in the solved three-dimensional structure of the human G6PD protein. We found that class I mutations have the most deleterious effects on the structure and stability of the protein.

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Section: Molecular Characterization Of G6pd Variantsmentioning

confidence: 99%

Section: Molecular Characterization Of G6pd Variantsmentioning

confidence: 99%

Glucose-6-Phosphate Dehydrogenase: Update and Analysis of New Mutations around the World

Gómez-Manzo

Marcial-Quino

Vanoye-Carlo

et al. 2016

IJMS

177

147

View full text Add to dashboard Cite

show abstract

“…This is a protozoal disease transmitted by the bite of female Anopheles mosquitoes (Plasmodium falciparum, P. malariae, P. vivax, and P. ovale). Blackwater fever syndrome is caused by infection with P. falciparum, and is characterized by repeated bouts of chills and fevers, severe intravascular hemolysis and anemia, jaundice, hemoglobinuria (black urine) and splenic enlargement [89][90][91]. Patients often develop fevers above 40°C.…”

Section: Discussionmentioning

confidence: 99%

New Mode (Molecular-Sensing) of Heinz Body Formation Mechanisms Inherent in Human Erythrocytes: Basis for Understanding of Clinical Aspects of Drug-Induced Hemolytic Anemia and the Like

Sugawara¹

2013

J Bioanal Biomed

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The human hemoglobin (Hb) molecule (α 2 β 2 ) has two types of α-β interface (i.e., α 1 -β 1 [and α 2 -β 2 ] and α 1 -β 2 [and α 2 -β 1 ]). The latter α 1 -β 2 (and α 2 -β 1 ) interface is associated with cooperative O 2 binding, and exhibits principal roles if the molecule goes from its deoxygenated to oxygenated quaternary structure. The role of the former α 1 -β 1 (and α 2 -β 2 ) interface has been unclear for a long time. In this regard, important and intriguing observations have been accumulating, so that a new gaze can be focused on the α 1 -β 1 (and α 2 -β 2 ) interface. Our most recent findings suggest that the α 1 -β 1 (and α 2 -β 2 ) interface may exert delicate control of the intrinsic tilting capability of the distal (E7) His residues (i.e., α58His (E7) in the α chain and β63His (E7) in the β chain) depending on internal and external conditions of the erythrocyte to lead to degradation of Hb to hemichrome, and subsequent clustering of Heinz bodies within the erythrocyte. In the spleen, rigid intra-erythrocytic hemichrome inclusions (Heinz bodies) act as "sticking points", so Heinz body-containing red cells become trapped and undergo hemolysis. In this article, we first provide our necessary basic experimental findings that led us to grasp molecular biosensing mechanisms inherent in human erythrocytes for the appreciation of aging and determination of their lifespan, and summarize their roles in physiology. We then discuss how these accomplishments contribute to deeper understanding of clinical aspects of drug-induced hemolytic anemia, defects in the intra-erythrocytic reducing system and unstable Hb disease, in which the mechanisms for acute hemolytic crisis cannot be explained on the basis of conventional views.

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“…This is a protozoal disease transmitted by the bite of female Anopheles mosquitoes (Plasmodium falciparum, P. malariae, P. vivax, and P. ovale). Blackwater fever syndrome is caused by infection with P. falciparum, and is characterized by repeated bouts of chills and fevers, severe intravascular hemolysis and anemia, jaundice, hemoglobinuria (black urine) and splenic enlargement [87][88][89]. Patients often develop fevers >40 °C.…”

Section: Discussionmentioning

confidence: 99%

New Roles Assigned to the α1–β1 (and α2–β2) Interface of the Human Hemoglobin Molecule from Physiological to Cellular

et al. 2011

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Glucose-6-phosphate dehydrogenase (G6PD) mutations and haemoglobinuria syndrome in the Vietnamese population

Cited by 36 publications

References 29 publications

Glucose-6-Phosphate Dehydrogenase: Update and Analysis of New Mutations around the World

Glucose-6-Phosphate Dehydrogenase: Update and Analysis of New Mutations around the World

New Mode (Molecular-Sensing) of Heinz Body Formation Mechanisms Inherent in Human Erythrocytes: Basis for Understanding of Clinical Aspects of Drug-Induced Hemolytic Anemia and the Like

New Roles Assigned to the α1–β1 (and α2–β2) Interface of the Human Hemoglobin Molecule from Physiological to Cellular

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