A novel single-base mutation in the glucose 6-phosphate dehydrogenase gene is associated with chronic non-spherocytic haemolytic anaemia

1994 ◽  
Vol 94 (5) ◽  
pp. 560-562 ◽  
Author(s):  
Stefonia Filosa ◽  
Wangwie Cai ◽  
Renzo Galanello ◽  
Antonio Cao ◽  
Domenico De Mattia ◽  
...  
Keyword(s):  
Haemolytic Anaemia ◽  
Single Base ◽  
Dehydrogenase Gene ◽  
Glucose 6 Phosphate Dehydrogenase

scholarly journals Glucose 6-phosphate dehydrogenase Palermo R257M: a novel variant associated with chronic non-spherocytic haemolytic anaemia

2010 ◽  
Vol 149 (2) ◽  
pp. 296-297 ◽  
Author(s):  
Paolo Rigano ◽  
Carmelo Fabiano ◽  
Fannj Pojero ◽  
Marcello Niceta ◽  
Alice Pecoraro ◽  
...  
Keyword(s):  
Haemolytic Anaemia ◽  
Novel Variant ◽  
Glucose 6 Phosphate Dehydrogenase

scholarly journals Identification of point mutations in Glucose-6-Phosphate Dehydrogenase gene in Timor Island people : A preliminary report

2001 ◽  
pp. 210
Author(s):  
Widanto Hardjowasito ◽  
Bambang Pardjianto ◽  
Loeki E. Fitri ◽  
Mardhani Ys ◽  
Loekito R. M. ◽  
...  
Keyword(s):  
Preliminary Report ◽  
Point Mutations ◽  
Dehydrogenase Gene ◽  
Glucose 6 Phosphate Dehydrogenase

Aspirin-Induced Acute Haemolytic Anaemia in Glucose-6-Phosphate Dehydrogenase-Def icient Children with Systemic Arthritis

1989 ◽  
Vol 81 (4) ◽  
pp. 208-209 ◽  
Author(s):  
Tullio Meloni ◽  
Gavino Forteleoni ◽  
Augusto Ogana ◽  
Vannina Franca
Keyword(s):  
Haemolytic Anaemia ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Systemic Arthritis

Glucose-6-phosphate dehydrogenase deficiency

2020 ◽  
pp. 5472-5479
Author(s):  
Lucio Luzzatto
Keyword(s):  
Haemolytic Anaemia ◽  
Viral Infections ◽  
Selective Advantage ◽  
Screening Tests ◽  
Lumbar Pain ◽  
Dark Urine ◽  
Direct Demonstration ◽  
Life Saving ◽  
High Doses ◽  
Glucose 6 Phosphate Dehydrogenase

Deficiency of the enzyme glucose-6-phosphate dehydrogenase (G6PD) in red blood cells is an inherited abnormality due to mutations of the G6PD gene on the X chromosome that renders the cells vulnerable to oxidative damage. The condition is widespread in many populations living in or originating from tropical and subtropical areas of the world because it confers a selective advantage against Plasmodium falciparum malaria. Clinical features—G6PD deficiency is mostly an asymptomatic trait, but it predisposes to acute haemolytic anaemia in response to exogenous triggers, including (1) ingestion of fava beans—favism; (2) certain bacterial and viral infections; and (3) some drugs—notably some antimalarials (e.g. primaquine), some antibiotics (e.g. sulphanilamide, dapsone, nitrofurantoin), and even aspirin in high doses. Other manifestations include (1) severe neonatal jaundice; and (2) chronic nonspherocytic haemolytic anaemia—the latter is only seen with rare specific genetic variants. The acute haemolytic attack typically starts with malaise, weakness, and abdominal or lumbar pain, followed by the development of jaundice and passage of dark urine (haemoglobinuria). Most episodes resolve spontaneously. Diagnosis relies on the direct demonstration of decreased activity of G6PD in red cells: a variety of screening tests are available, with (ideally) subsequent confirmation by quantitative assay. Prevention is by avoiding exposure to triggering factors of previously screened subjects. Prompt blood transfusion is indicated in severe acute haemolytic anaemia and may be life-saving.

scholarly journals Identification of the Cytosolic Glucose-6-Phosphate Dehydrogenase Gene from Strawberry Involved in Cold Stress Response

2020 ◽  
Vol 21 (19) ◽  
pp. 7322
Author(s):  
Yunting Zhang ◽  
Mengwen Luo ◽  
Lijuan Cheng ◽  
Yuanxiu Lin ◽  
Qing Chen ◽  
...  
Keyword(s):  
Cold Stress ◽  
Stress Responses ◽  
Expression Patterns ◽  
Plant Stress ◽  
Bioinformatic Analysis ◽  
Ros Generation ◽  
Ros Scavenging ◽  
Dehydrogenase Gene ◽  
Plant Stress Responses ◽  
Glucose 6 Phosphate Dehydrogenase

Glucose-6-phosphate dehydrogenase (G6PDH) plays an important role in plant stress responses. Here, five FaG6PDH sequences were obtained in strawberry, designated as FaG6PDH-CY, FaG6PDH-P1, FaG6PDH-P1.1, FaG6PDH-P2 and FaG6PDH-P0, which were divided into cytosolic (CY) and plastidic (P) isoforms based on the bioinformatic analysis. The respective FaG6PDH genes had distinct expression patterns in all tissues and at different stages of fruit development. Notably, FaG6PDH-CY was the most highly expressed gene among five FaG6PDH members, indicating it encoded the major G6PDH isoform throughout the plant. FaG6PDH positively regulated cold tolerance in strawberry. Inhibition of its activity gave rise to greater cold-induced injury in plant. The FaG6PDH-CY transcript had a significant increase under cold stress, similar to the G6PDH enzyme activity, suggesting a principal participant in response to cold stress. Further study showed that the low-temperature responsiveness (LTR) element in FaG6PDH-CY promoter can promote the gene expression when plant encountered cold stimuli. Besides, FaG6PDH-CY was involved in regulating cold-induced activation of antioxidant enzyme genes (FaSOD, FaCAT, FaAPX and FaGR) and RBOH-dependent ROS generation. The elevated FaG6PDH-CY enhanced ROS-scavenging capability of antioxidant enzymes to suppress ROS excessive accumulation and relieved the oxidative damage, eventually improving the strawberry resistance to cold stress.

Genomic structure and sequence of the fugu rubripes glucose-6-phosphate dehydrogenase gene (G6PD)

Genomics ◽  
1995 ◽  
Vol 26 (3) ◽  
pp. 587-591 ◽  
Author(s):  
Philip J. Mason ◽  
David J. Stevens ◽  
Lucio Luzzatto ◽  
Sydney Brenner ◽  
Samuel Aparicio
Keyword(s):  
Genomic Structure ◽  
Fugu Rubripes ◽  
Dehydrogenase Gene ◽  
Glucose 6 Phosphate Dehydrogenase
Sign in / Sign up

Export Citation Format

Share Document