Due fratelli con i globuli rossi stressati

2021 ◽  
Vol 40 (3) ◽  
pp. 193-194
Author(s):  
Simone Ceratto ◽  
Eleonora Tognato ◽  
Lorenzo Fiorica ◽  
Giorgia Enrico ◽  
Lina Cimminelli ◽  
...  
Keyword(s):  
Neonatal Jaundice ◽  
Dehydrogenase Deficiency ◽  
Fava Beans ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
First Time

The paper describes the case of two Caucasian brothers (11 and 12 years old resepctively) who for the first time presented with acute haemolysis due to glucose-6-phosphate dehydrogenase deficiency. The two brothers showed different severity of symptoms, even though the elder one had already eaten fava beans before. Of note, both of them were affected by neonatal jaundice and needed phototherapy in their first days of life.

scholarly journals Glucose-6-phosphate Dehydrogenase Deficiency: A Case Report

2017 ◽  
Vol 12 (1) ◽  
pp. 47-49
Author(s):  
Md Kamrul Hassan ◽  
Aloke Kumar Saha ◽  
Lakshman Chandra Kundu ◽  
Poly Begum ◽  
Abu Yousuf
Keyword(s):  
G6pd Deficiency ◽  
Neonatal Jaundice ◽  
Dehydrogenase Deficiency ◽  
Cultural Factors ◽  
Enzyme Defect ◽  
Asian Populations ◽  
Hemolytic Crisis ◽  
Life Threatening ◽  
Fava Beans ◽  
Glucose 6 Phosphate Dehydrogenase

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common hereditary enzyme disorder and more than 200 million people have a deficiency in this enzyme. G6PD deficiency is an X-linked enzyme defect, and one of its main signs is the presence of hemolytic anemia. It is a worldwide important cause of neonatal jaundice and causes life threatening hemolytic crisis in childhood. At later ages, certain drugs such as anti-malarial drugs and fava beans cause hemolysis among G6PD deficiency patients. The frequency and severity is influenced by genetic and cultural factors. It is common in Mediterranean, African and some East Asian populations but rare in Bangladeshi peoples. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive.Faridpur Med. Coll. J. Jan 2017;12(1): 47-49

Resistance of glucose-6-phosphate dehydrogenase deficiency to malaria: effects of fava bean hydroxypyrimidine glucosides onPlasmodium falciparumgrowth in culture and on the phagocytosis of infected cells

Parasitology ◽  
1996 ◽  
Vol 113 (1) ◽  
pp. 7-18 ◽  
Author(s):  
H. Ginsburg ◽  
H. Atamna ◽  
G. Shalmiev ◽  
J. Kanaani ◽  
M. Krugliak
Keyword(s):  
Dehydrogenase Deficiency ◽  
Dietary Habits ◽  
Phagocytic Cells ◽  
Balanced Polymorphism ◽  
Fava Bean ◽  
Infected Cells ◽  
Fava Beans ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Hydrolysis Of ◽  
Selection Of

SUMMARYThe balanced polymorphism of glucose-6-phosphate dehydrogenase deficiency (G6PD-) is believed to have evolved through the selective pressure of malaria combined with consumption of fava beans. The implicated fava bean constituents are the hydroxypyrimidine glucosides vicine and convicine, which upon hydrolysis of their β-O-glucosidic bond, become potent pro-oxidants. In this work we show that the glucosides inhibit the growth ofPlasmodium falciparum, increase the hexose-monophosphate shunt activity and the phagocytosis of malaria-infected erythrocytes. These activities are exacerbated in the presence of β-glucosidase, implicating their pro-oxidant aglycones in the toxic effect, and are more pronounced in infected G6PD-erythrocytes. These results suggest that G6PD-infected erythrocytes are more susceptible to phagocytic cells, and that fava bean pro-oxidants are more efficiently suppressing parasite propagation in G6PD-erythrocytes, either by directly affecting parasite growth, or by means of enhanced phagocytic elimination of infected cells. The present findings could account for the relative resistance of G6PD-bearers to falciparum malaria, and establish a link between dietary habits and malaria in the selection of the G6PD-genotype.

NEONATAL JAUNDICE IN GLUCOSE-6-PHOSPHATE-DEHYDROGENASE DEFICIENCY

The Lancet ◽  
1963 ◽  
Vol 281 (7295) ◽  
pp. 1382-1383 ◽  
Author(s):  
Gebhard Flatz ◽  
Sommai Sringam ◽  
Vanrunee Komkris
Keyword(s):  
Neonatal Jaundice ◽  
Dehydrogenase Deficiency ◽  
Glucose 6 Phosphate Dehydrogenase

scholarly journals Glucose-6-Phosphate Dehydrogenase Deficiency in Greece

Blood ◽  
1961 ◽  
Vol 18 (1) ◽  
pp. 34-47 ◽  
Author(s):  
LEDA ZANNOS-MARIOLEA ◽  
CHRISTOS KATTAMIS
Keyword(s):  
Individual Differences ◽  
Dehydrogenase Deficiency ◽  
Normal Limit ◽  
Red Cells ◽  
Female Patients ◽  
Male Patients ◽  
Stability Method ◽  
Fava Beans ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Genetic Hypothesis

Abstract The glutathione stability of red cells was estimated in 40 patients during acute hemolysis induced by fava beans. There were wide individual differences but in all cases except one (Case 18) the post-incubation GSH fell to levels below 40 mg. per cent packed RBC which is the lower normal limit. The GSH stability on 44 mothers and 37 fathers gave results consistent with the genetic hypothesis that in male patients the mother is the carrier of the biochemical defect, while in female patients both parents are carriers, since, as a rule, only female homozygotes suffer from hemolytic episodes. However, in only 77.7 per cent of the mothers could the biochemical defect be proved by this method. The Motulsky test was performed in 30 of the 40 patients. It gave abnormal decolorization times in 25 or 83 per cent of the cases. This test is therefore valuable for diagnosing "sensitivity" during a hemolytic episode; it is, nevertheless, less sensitive than the GSH stability method. The Motulsky test was also performed on 31 mothers, 18 fathers and 8 siblings. It proved to be unreliable in the detection of female heterozygotes. G-6-PD deficiency is widely disseminated in Greece; it is, however, not evenly distributed throughout the country. The highest frequency of G-6-PD deficiency found so far in males was about 3 per cent; the lowest was 0.7 per cent.

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