Results 51 to 60 of about 7,778 (203)

Molecular characterization of G6PD mutations identifies new mutations and a high frequency of intronic variants in Thai females.

PLoS ONE, 2023
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked enzymopathy caused by mutations in the G6PD gene. A medical concern associated with G6PD deficiency is acute hemolytic anemia induced by certain foods, drugs, and infections.
Kamonwan Chamchoy, Sirapapha Sudsumrit, Jutamas Wongwigkan, Songsak Petmitr, Duantida Songdej, Emily R Adams, Thomas Edwards, Ubolsree Leartsakulpanich, Usa Boonyuen   +8 more
doaj   +1 more source

Improved red blood cell storage quality of blood from donors carrying the hypermorphic PIMT I120 variant [PDF]

Hemasphere
Abstract Protein‐l‐isoaspartate O‐methyltransferase (PIMT), encoded by PCMT1, is a repair enzyme that corrects isoaspartyl lesions, preserving protein structure and function. While indispensable for neuronal integrity, its role in red blood cells (RBCs) and transfusion outcomes is incompletely understood.
Bevers S, Issaian A, Hay A, Keele G, Dzieciatkowska M, Reisz J, Haiman Z, Nemkov T, Stephenson D, Moore A, Deng X, Stone M, Hansen K, Kleinman S, Norris P, Busch M, Palsson B, Roubinian N, Janetzko J, Vӧgeli B, Page G, Jones D, Henen M, Eisenmesser E, Zimring J, D'Alessandro A.   +25 more
europepmc   +2 more sources

Glucose-6-phosphate dehydrogenase status and risk of hemolysis in Plasmodium falciparum-infected African children receiving single-dose primaquine. [PDF]

, 2014
Glucose-6-phosphate dehydrogenase (G6PD) enzyme function and genotype were determined in Ugandan children with uncomplicated falciparum malaria enrolled in a primaquine trial after exclusion of severe G6PD deficiency by fluorescent spot test.
Bousema, Teun, Drakeley, Chris, Eziefula, Alice C, Grignard, Lynn, Kamya, Moses R, Kiggundu, Moses, Opus, Salome, Pett, Helmi, Staedke, Sarah G, Yeung, Shunmay   +9 more
core   +4 more sources

Analysis of genotype distribution of thalassemia and G6PD deficiency among Hakka population in Meizhou city of Guangdong Province [PDF]

Journal of Clinical Laboratory Analysis, 2019
AbstractObjectiveThe aim of the study was to explore genotype distribution thalassemia and G6PD deficiency in Meizhou city, China.MethodsA total of 16 158 individuals were involved in thalassemia genetic testing. A total of 605 subjects were screened for common Chinese G6PD mutations by gene chip analysis. Genotypes and allele frequencies were analyzed.
Heming Wu, Qiuyan Zhu, Hua Zhong, Zhikang Yu, Qunji Zhang, Qingyan Huang   +5 more
openaire   +2 more sources

Molecular genotyping of G6PD mutations and Duffy blood group in Afro-descendant communities from Brazilian Amazon [PDF]

Genetics and Molecular Biology, 2018
Glucose-6-phosphate dehydrogenase deficiency (G6PDd) and Duffy-negative blood group are two red blood cells variants that confer protection against malaria. In this study, the distribution of the most common G6PD variants (G6PD*A-, GGPD*A and G6PD Mediterranean) and the major alleles of the Duffy blood group (FY*A, FY*B and FY*BES) were investigated in
Haiala S. Silva de Oliveira, Aylla N. Lima Martins da Silva, Gabriela Barreto Andrade, Karoline Coelho Gaia, Greice de Lemos Cardoso Costa, Ândrea K. Campos Ribeiro dos Santos, João Farias Guerreiro   +6 more
openaire   +5 more sources

Genotypic glucose-6-phosphate dehydrogenase (G6PD) deficiency protects against Plasmodium falciparum infection in individuals living in Ghana

PLOS ONE, 2021
Introduction The global effort to eradicate malaria requires a drastic measure to terminate relapse from hypnozoites as well as transmission via gametocytes in malaria-endemic areas. Primaquine has been recommended for the treatment of P. falciparum gametocytes and P.
Linda Eva Amoah, Kwame Kumi Asare, Dickson Donu, Joana Abankwa, Abena Busayo, Dorcas Bredu, Sherifa Annan, George Adu Asumah, Nana Yaw Peprah, Alexander Asamoah, Keziah Malm   +10 more
openaire   +4 more sources

Clinical spectrum and severity of hemolytic anemia in glucose 6-phosphate dehydrogenase-deficient children receiving dapsone [PDF]

, 2012
Drug-induced acute hemolytic anemia led to the discovery of G6PD deficiency. However, most clinical data are from isolated case reports. In 2 clinical trials of antimalarial preparations containing dapsone (4,4′-diaminodiphenylsulfone; 2.5 mg/kg once ...
Pamba, Allan, Richardson, Naomi D., Carter, Nick, Duparc, Stephan, Premji, Zul, Tiono, Alfred B., Luzzatto, Lucio   +6 more
core   +4 more sources

A fluorometric assay to determine the protective effect of glucose-6-phosphate dehydrogenase (G6PD) against a Plasmodium spp. infection in females heterozygous for the G6PD gene: proof of concept in Plasmodium falciparum

BMC Research Notes, 2022
Objective Glucose-6-phosphate dehydrogenase (G6PD) deficiency offers some protection against malaria; however, the degree of protection is poorly described and likely to vary with G6PD genotype and Plasmodium species.
Angela Rumaseb, Jutta Marfurt, Steven Kho, Maria Kahn, Ric N. Price, Benedikt Ley   +5 more
doaj   +1 more source

Primaquine-induced haemolysis in females heterozygous for G6PD deficiency

Malaria Journal, 2018
Oxidative agents can cause acute haemolytic anaemia in persons with G6PD deficiency. Understanding the relationship between G6PD genotype and the phenotypic expression of the enzyme deficiency is necessary so that severe haemolysis can be avoided.
Cindy S. Chu, Germana Bancone, François Nosten, Nicholas J. White, Lucio Luzzatto   +4 more
doaj   +1 more source

Plasmodium falciparum clearance with artemisinin-based combination therapy (ACT) in patients with glucose-6-phosphate dehydrogenase deficiency in Mali [PDF]

, 2010
URL : http://www.malariajournal.com/content/9/1/332Background: Artemisinin-based combination therapy (ACT) is currently the most effective medicine for the treatment of uncomplicated malaria.
Abdoulaye K Kone, Issaka Sagara, Mahamadou A Thera, Alassane Dicko, Aldiouma Guindo, Seidina Diakite, Joseph Kurantsin-Mills, Abdoulaye Djimde, Asikiya Walcourt, Ogabara Doumbo   +9 more
core   +2 more sources