G6PD Murcia, G6PD Ube and G6PD Orissa: Report of three G6PD mutations unusual for Italian population

doi:10.1016/j.clinbiochem.2010.06.021

Clinical Biochemistry

Volume 43, Issues 13–14, September 2010, Pages 1180-1181

https://doi.org/10.1016/j.clinbiochem.2010.06.021 Get rights and content

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Glucose-6-phosphate dehydrogenase laboratory assay: how, when, and why?
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Survival of 51 cr-labelled red cells in subjects with thalassaemia-trait or G6PD deficiency or both abnormalities
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Identification of RFLP G6PD mutations by using microcapillary electrophoretic chips (Experion)
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Cited by (6)

Molecular basis of favism triggered by ingestion of frozen pumpkin cross-contaminated with fava beans
2019, Clinical Biochemistry
Citation Excerpt :
Although this case has been well described, the molecular basis of the G6PDd was missing. In the absence of the genetic test for G6PDd, Zuccotti et al. left the possibility open that AHA could depend on a peculiar G6PD variant, as previously reported [5–7]. We underline the importance to report information regarding the type of G6PD variant, in order to fully elucidate the phenotype-genotype relationship in this patient.
Glucose-6-phosphate dehydrogenase (G6PD) mutations database: Review of the "old" and update of the new mutations
2012, Blood Cells, Molecules, and Diseases
In the present paper we have updated the G6PD mutations database, including all the last discovered G6PD genetic variants. We underline that the last database has been published by Vulliamy et al. [1] who analytically reported 140 G6PD mutations: along with Vulliamy's database, there are two main sites, such as http://202.120.189.88/mutdb/ and www.LOVD.nl/MR, where almost all G6PD mutations can be found.
Compared to the previous mutation reports, in our paper we have included for each mutation some additional information, such as: the secondary structure and the enzyme 3D position involving by mutation, the creation or abolition of a restriction site (with the enzyme involved) and the conservation score associated with each amino acid position.
The mutations reported in the present tab have been divided according to the gene's region involved (coding and non-coding) and mutations affecting the coding region in: single, multiple (at least with two bases involved) and deletion.
We underline that for the listed mutations, reported in italic, literature doesn't provide all the biochemical or bio-molecular information or the research data.
Finally, for the “old” mutations, we tried to verify features previously reported and, when subsequently modified, we updated the specific information using the latest literature data.
Glucose-6-phosphate-dehydrogenase deficiency management in western countries. A literature review
2020, Semergen
El déficit de glucosa-6-fosfato-deshidrogenasa (G6PD) es la enzimopatía más prevalente en población general, pero la mayoría de los pacientes son asintomáticos (las crisis son desencadenadas por ciertos fármacos o alimentos). La repercusión clínica es mayor en pacientes procedentes de áreas endémicas de malaria (la medicación antipalúdica puede desencadenar una crisis).
El aumento de flujos migratorios hace que las personas afectadas por el déficit en nuestra consulta estén en aumento, lo que hace interesante una revisión bibliográfica de esta entidad.
Algunos autores han comunicado que los pacientes con déficit de G6PD presentan un aumento de enfermedades cardiovasculares, lo que lleva a plantear un control estricto de factores de riesgo cardiovasculares. Por otro lado, estos pacientes presentan una disminución en la prevalencia de cáncer colorrectal. Además, las donaciones de médula ósea y de derivados hematopoyéticos podrían hacerse con seguridad.
Glucose-6-phosphate-dehydrogenase (G6PD) deficiency is the most prevalent abnormal enzyme condition in the general population, but most patients are asymptomatic (crises are triggered by certain drugs or foods). The clinical consequences are greater in patients coming from endemic areas of malaria (antimalarial medication can trigger a crisis).
The increase in migratory flows has led to an increase in the number of people affected by the deficiency in our practice, which makes it interesting to carry out a literature review of this condition.
Some authors have communicated that patients with G6PD deficiency have an increase in prevalence of cardiovascular diseases, which requires the strict control of cardiovascular risk factors. However, these patients show a decrease in colorectal cancer prevalence. In addition, donations of bone marrow and haematopoietic derivatives could be performed safely.
The friendly use of chloroquine in the COVID-19 disease: A warning for the G6PD-deficient males and for the unaware carriers of pathogenic alterations of the G6PD gene
2020, Clinical Chemistry and Laboratory Medicine
Report of an Italian family carrying a typical Indian variant of the Nilgiris tribal groups resulting from a de novo occurrence
2018, Human Genome Variation
Molecular analysis of glucose-6-phosphate dehydrogenase gene mutations in Bangladeshi individuals
2016, PLoS ONE

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Letter to the EditorG6PD Murcia, G6PD Ube and G6PD Orissa: Report of three G6PD mutations unusual for Italian population

Blood Cells Mol Dis

Clin Biochem

Blood Cells Mol Dis

Glucose-6-phosphate dehydrogenase laboratory assay: how, when, and why?

IUBMB Life

Survival of 51 cr-labelled red cells in subjects with thalassaemia-trait or G6PD deficiency or both abnormalities

Br J Haematol

Identification of RFLP G6PD mutations by using microcapillary electrophoretic chips (Experion)

J Sep Sci

Letter to the Editor
G6PD Murcia, G6PD Ube and G6PD Orissa: Report of three G6PD mutations unusual for Italian population