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Nutrients Jan 2023Favism is a hemolytic disease due to the ingestion of fava beans in individuals with glucose-6-phosphate dehydrogenase (G6PD) deficiency. There is wide inter- and... (Review)
Review
Favism is a hemolytic disease due to the ingestion of fava beans in individuals with glucose-6-phosphate dehydrogenase (G6PD) deficiency. There is wide inter- and intra-individual variability in the development of hemolytic crisis, and several factors influence it: quantity, quality, ripeness of fava beans, and age of onset. In this narrative review of case reports and case series, we reported the predisposing factors and clinical features for four different age groups classified as follows: pregnant women and infants (i.e., exclusively breastfed children); children, from weaned to 11 years; preadolescents and adolescents, from 11 to 18 years; and adults (18 years and older). Some symptoms developed only in specific age groups: death in infants; visual impairment in children; systolic murmur in infants, children, and adolescents; and renal failure in adults. In youngest children or pregnant women the severity is the highest. Some other symptoms were present in all: jaundice, increased bilirubin, splenomegaly, hepatomegaly, discolored urine, tachycardia, pallor, abdominal pain, malaise, vomit, nausea, and dizziness. Laboratory findings are characterized by anemia, reticulocytosis, elevated bilirubin level, and sometimes urinary urobilinogen and methemoglobinemia. In most cases the symptomatology is self-limited and does not release sequelae, but hospitalization and transfusion are often required.
Topics: Pregnancy; Child; Infant; Adolescent; Adult; Humans; Female; Favism; Glucosephosphate Dehydrogenase Deficiency; Vicia faba; Hemolysis; Bilirubin
PubMed: 36678214
DOI: 10.3390/nu15020343 -
Frontiers in Pediatrics 2022Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a prevalent condition worldwide and is caused by loss-of-function mutations in the G6PD gene. Individuals with... (Review)
Review
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a prevalent condition worldwide and is caused by loss-of-function mutations in the G6PD gene. Individuals with deficiency are more susceptible to oxidative stress which leads to the classical, acute hemolytic anemia (favism). However, G6PD deficiency in newborn infants presents with an increased risk of hyperbilirubinemia, that may rapidly escalate to result in bilirubin induced neurologic dysfunction (BIND). Often with no overt signs of hemolysis, G6PD deficiency in the neonatal period appears to be different in the pathophysiology from favism. This review discusses and compares the mechanistic pathways involved in these two clinical presentations of this enzyme disorder. In contrast to the membrane disruption of red blood cells and Heinz bodies formation in favism, G6PD deficiency causing jaundice is perhaps attributed to the disruption of oxidant-antioxidant balance, impaired recycling of peroxiredoxin 2, thus affecting bilirubin clearance. Screening for G6PD deficiency and close monitoring of affected infants are important aspects in neonatal care to prevent kernicterus, a permanent and devastating neurological damage. WHO recommends screening for G6PD activity of all infants in countries with high prevalence of this deficiency. The traditional fluorescent spot test as a screening tool, although low in cost, misses a significant proportion of cases with moderate deficiency or the partially deficient, heterozygote females. Some newer and emerging laboratory tests and diagnostic methods will be discussed while developments in genomics and proteomics contribute to increasing studies that spatially profile genetic mutations within the protein structure that could predict their functional and structural effects. In this review, several known variants of G6PD are highlighted based on the location of the mutation and amino acid replacement. These could provide insights on why some variants may cause a higher degree of phenotypic severity compared to others. Further studies are needed to elucidate the predisposition of some variants toward certain clinical manifestations, particularly neonatal hyperbilirubinemia, and how some variants increase in severity when co-inherited with other blood- or bilirubin-related genetic disorders.
PubMed: 35685917
DOI: 10.3389/fped.2022.875877 -
Postgraduate Medical Journal Aug 1961
Topics: Favism; Humans
PubMed: 13720117
DOI: 10.1136/pgmj.37.430.477 -
Molecular Pathology : MP Apr 2002Acid phosphatases (APs) are a family of enzymes that are widespread in nature, and can be found in many animal and plant species. Mystery surrounds the precise... (Review)
Review
Acid phosphatases (APs) are a family of enzymes that are widespread in nature, and can be found in many animal and plant species. Mystery surrounds the precise functional role of these molecular facilitators, despite much research. Yet, paradoxically, human APs have had considerable impact as tools of clinical investigation and intervention. One particular example is tartrate resistant acid phosphatase, which is detected in the serum in raised amounts accompanying pathological bone resorption. This article seeks to explore the identity and diversity of APs, and to demonstrate the relation between APs, human disease, and clinical diagnosis.
Topics: Acid Phosphatase; Biomarkers; Bone Resorption; Favism; Gaucher Disease; Humans; Intracellular Fluid; Isoenzymes; Leukemia, Hairy Cell; Male; Osteoclasts; Osteoporosis; Prostate; Prostatic Neoplasms; Protein Binding; Reactive Oxygen Species; Tartrate-Resistant Acid Phosphatase; alpha-Macroglobulins
PubMed: 11950951
DOI: 10.1136/mp.55.2.65 -
Cureus Mar 2022Favism is an acute hemolytic syndrome that occurs in patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency following the ingestion of fava beans. Diagnosis...
Favism is an acute hemolytic syndrome that occurs in patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency following the ingestion of fava beans. Diagnosis can be challenging because the severity of hemolytic anemia varies among this patient population. Furthermore, the severity of hemolytic episodes can vary in the same patient. The diagnosis of G6PD deficiency and patient education pertaining to safe and unsafe medications and foods are crucial to prevent the reoccurrence of hemolytic episodes. Here, we report the case of a man admitted to our hospital with an acute hemolytic episode. At the time of admission, we were unaware that he had ingested fava beans and only discovered that he had G6PD deficiency while performing complementary studies during the hemolytic crisis to determine its etiology.
PubMed: 35449616
DOI: 10.7759/cureus.23269 -
Blood Jun 1971
Topics: Dihydroxyphenylalanine; Favism; Glucosephosphate Dehydrogenase Deficiency; Hemolysis; Humans; Male; Middle Aged; Parkinson Disease
PubMed: 5162316
DOI: No ID Found -
Frontiers in Microbiology 2023Red blood cells (RBCs) are among the simplest, yet physiologically relevant biological specimens, due to their peculiarities, such as their lack of nucleus and...
INTRODUCTION
Red blood cells (RBCs) are among the simplest, yet physiologically relevant biological specimens, due to their peculiarities, such as their lack of nucleus and simplified metabolism. Indeed, erythrocytes can be seen as biochemical machines, capable of performing a limited number of metabolic pathways. Along the aging path, the cells' characteristics change as they accumulate oxidative and non-oxidative damages, and their structural and functional properties degrade.
METHODS
In this work, we have studied RBCs and the activation of their ATP-producing metabolism using a real-time nanomotion sensor. This device allowed time-resolved analyses of the activation of this biochemical pathway, measuring the characteristics and the timing of the response at different points of their aging and the differences observed in favism erythrocytes in terms of the cellular reactivity and resilience to aging. Favism is a genetic defect of erythrocytes, which affects their ability to respond to oxidative stresses but that also determines differences in the metabolic and structural characteristic of the cells.
RESULTS
Our work shows that RBCs from favism patients exhibit a different response to the forced activation of the ATP synthesis compared to healthy cells. In particular, the favism cells, compared to healthy erythrocytes, show a greater resilience to the aging-related insults which was in good accord with the collected biochemical data on ATP consumption and reload.
CONCLUSION
This surprisingly higher endurance against cell aging can be addressed to a special mechanism of metabolic regulation that permits lower energy consumption in environmental stress conditions.
PubMed: 37333637
DOI: 10.3389/fmicb.2023.1196764 -
Acta Medica Portuguesa 2000Favism is an acute hemolytic syndrome occurring in glucose-6-phosphate dehydrogenase (G6PD) deficient individuals after the consumption of fava beans. The authors report...
Favism is an acute hemolytic syndrome occurring in glucose-6-phosphate dehydrogenase (G6PD) deficient individuals after the consumption of fava beans. The authors report the clinical case of a 16 year-old boy admitted to hospital with an acute hemolytic episode after the ingestion of fava beans. Complementary studies revealed G6PD deficiency. A study of the family and a short review about favism is presented.
Topics: Abdominal Pain; Adolescent; Favism; Humans; Male
PubMed: 11155491
DOI: No ID Found -
Frontiers in Pharmacology 2021Restrictions on the cultivation and ingestion of fava beans were first reported as early as the fifth century BC. Not until the late 19th century were clinical... (Review)
Review
Restrictions on the cultivation and ingestion of fava beans were first reported as early as the fifth century BC. Not until the late 19th century were clinical descriptions of fava-induced disease reported and soon after characterised as "favism" in the early 20th century. It is now well known that favism as well as drug-induced haemolysis is caused by a deficiency of the glucose-6-phosphate dehydrogenase (G6PD) enzyme, one of the most common enzyme deficiency in humans. Interest about the interaction between G6PD deficiency and therapeutics has increased recently because mass treatment with oxidative 8-aminoquinolines is necessary for malaria elimination. Historically, assessments of haemolytic risk have focused on the clinical outcomes (e.g., haemolysis) associated with either a simplified phenotypic G6PD characterisation (deficient or normal) or an ill-fitting classification of G6PD genetic variants. It is increasingly apparent that detailed knowledge of both aspects is required for a complete understanding of haemolytic risk. While more attention has been devoted recently to better phenotypic characterisation of G6PD activity (including the development of new point-of care tests), the classification of G6PD variants should be revised to be clinically useful in malaria eliminating countries and in populations with prevalent G6PD deficiency. The scope of this work is to summarize available literature on drug-induced haemolysis among individuals with different G6PD variants and to highlight knowledge gaps that could be filled with further clinical and laboratory research.
PubMed: 33790795
DOI: 10.3389/fphar.2021.638885