Intestinal transcriptional profiling reveals fava bean-induced immune response in DBA/1 mice.

BACKGROUND: Fava beans (FBs) have long been used as food, and their principal disadvantage is derived from their haemotoxicity. We hypothesized that FB ingestion alters the intestinal gene expression pattern, thereby inducing an immune response. RESULTS: In-depth sequence analysis identified 769 differentially expressed genes (DEGs) associated with the intestine in FB-treated DBA/1 mouse intestines. The identified genes were shown to be associated with biological processes (such as response to stimulus and immune system processes), human disease pathways (such as infectious diseases, endocrine and metabolic diseases, and immune diseases), and organismal system pathways (such as the digestive system, endocrine system, environmental adaptation, and immune system). Moreover, plasma total immunoglobulin E (IgE), histamine, interleukin (IL)-4 and IL-13 levels were significantly increased when the mice were treated with FBs. CONCLUSIONS: These results demonstrated that FBs affect the intestinal immune response and IgE and cytokine secretion in DBA/1 mice.

Intestinal transcriptional profiling reveals fava bean-induced immune response in DBA/1 mice

BACKGROUND: Fava beans (FBs) have long been used as food, and their principal disadvantage is derived from their haemotoxicity. We hypothesized that FB ingestion alters the intestinal gene expression pattern, thereby inducing an immune response. RESULTS: In-depth sequence analysis identified 769 differentially expressed genes (DEGs) associated with the intestine in FB-treated DBA/1 mouse intestines. The identified genes were shown to be associated with biological processes (such as response to stimulus and immune system processes), human disease pathways (such as infectious diseases, endocrine and metabolic diseases, and immune diseases), and organismal system pathways (such as the digestive system, endocrine system, environmental adaptation, and immune system). Moreover, plasma total immunoglobulin E (IgE), histamine, interleukin (IL)-4 and IL-13 levels were significantly increased when the mice were treated with FBs. CONCLUSIONS: These results demonstrated that FBs affect the intestinal immune response and IgE and cytokine secretion in DBA/1 mice.

[Favism after ingestion of fava beans in a three-year-old child with glucose-6-phosphate dehydrogenase deficiency].

A three-year-old Syrian boy was hospitalized with symptoms of acute haemolytic anaemia after ingestion of fava beans. He was stabilized by blood transfusion, and genetic examination revealed glucose-6-phosphate dehydrogenase (G6PD) deficiency. Oxidative stress, e.g. ingestion of fava beans, can induce acute haemolytic anaemia in affected individuals. Approximately 400 million people worldwide suffer from G6PD deficiency. The prevalence is high in African, Mediterranean and Middle East countries. Due to increased immigration, we might expect the condition to occur more often in Danish healthcare.

Ictericia secundaria a una deficiencia de glucosa 6-fosfato deshidrogenasa / Secondary jaundice to deficiency of glucose-6-phosphate dehydrogenase

Presentamos el caso de un varón de 7 años de edad, remitido a nuestra consulta para su valoración por un cuadro de ictericia mucocutánea. Las analíticas orientan hacia una anemia hemolítica y, tras interrogar a la familia, se concreta que el cuadro había comenzado a las 24 horas de la ingesta de habas, por lo que se orienta el cuadro como un probable déficit de glucosa 6-fosfato deshidrogenasa (D-G6PD), confirmándose posteriormente. Se inicia tratamiento de soporte. Las cifras más bajas de hemoglobina y hematocrito se detectan al cuarto día tras la ingesta del agente desencadenante, permaneciendo el paciente prácticamente asintomático. Las cifras analíticas se normalizan completamente a los 14 días del inicio del cuadro. En este caso se detectó la coexistencia de D-G6PD con otra eritropatía, G6PD/HbS (anemia de células falciformes), asociación que ya ha sido descrita en otros trabajos anteriormente. Al alta hospitalaria se proporcionó al paciente una lista de fármacos y alimentos con efecto oxidante, así como asesoramiento genético. Asimismo, nos parece importante resaltar la importancia de excluir la coexistencia de D-G6PD con otras eritropatía (AU)

We describe the case of a seven year old male patient, who was sent to study because of recient jaundice, with final diagnosis hemolitic anemia, beginning up to 24 hours to have consumed beans, and that’s why the initial diagnosis was glucose 6 phosphate dehydrogenase deficiency (G6PD), being confirmed later. Lower numbers of haemoglobin and hematocrito appears on fourth day, remaining practically asymptomatic. Analytical normalized to 14 days. We diagnose also coexistence of G6PD with other erythropathy G6PG/HbS. The patient received the list of food and drugs potentially harmful and genetic counselling. We want to stand out the importance of reject the coexistence with another erythropathy (AU)

Deficiencia de glucosa 6 fosfato deshidrogenasa en niños: caso clínico / Glucose-6-phosphate dehydrogenase deficiency in children: a case report

Introduction: Glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency) is the most common red blood cell (RBC) enzyme disorder. The decrease as well as the absence of the enzyme increase RBC vulnerability to oxidative stress caused by exposure to certain medications or intake of fava beans. Among the most common clinical manifestations of this condition, acute hemolysis, chronic hemolysis, neonatal hyperbilirubinemia, and an asymptomatic form are observed. Objective: To analyze the case of a child who presented hemolytic crisis due to favism. Case report: A 2 year and 7 month old boy with a history of hyperbilirubinemia during the newborn period with no apparent cause, no family history of hemolytic anemia or parental consanguinity. He presented a prolonged neonatal jaundice and severe anemia requiring RBC transfusion. An intake of fava beans 48 h prior to onset of symptoms was reported. G6PD qualitative determination was compatible with this enzyme deficiency. Conclusion: G6PD deficiency can be highly variable in its clinical presentation, so it is necessary to keep it in mind during the diagnosis of hemolytic anemia at any age.

Introducción: La deficiencia de la glucosa 6-fosfato deshidrogenasa (G6PD) es el trastorno enzimático más frecuente del glóbulo rojo (GR). Tanto la disminución como la ausencia de la enzima aumentan la vulnerabilidad del GR al estrés oxidativo provocado por algunos fármacos o la ingesta de habas. Sus manifestaciones clínicas más frecuentes son hemolisis aguda, hemolisis crónica, hiperbilirrubinemia neonatal, y una forma asintomática. Objetivo: Presentar el caso de un niño que debutó como crisis hemolítica debida a favismo. Caso clínico: Varón 2 años 7 meses con antecedente de hiperbilirrubinemia en el período neonatal sin causa evidente, sin historia familiar de anemia hemolítica ni de consanguinidad paterna. Debutó con un cuadro de ictericia y anemia severa que requirió transfusión de GR. Como antecedente anamnéstico se detectó la ingesta de habas 48 h previo al inicio de los síntomas. La determinación cualitativa de G6PD fue compatible con deficiencia de esta enzima. Conclusión: La deficiencia de G6PD puede ser muy variable en su expresión clínica, por lo cual es necesario tenerla presente dentro del diagnóstico diferencial de las anemias hemolíticas a toda edad.

Do favic patients resume fava beans ingestion later in their life, a study for this, and a new hypothesis for favism etiology.

BACKGROUND AND OBJECTIVES: The etiology of favism remains unclear and the fate of favic patients has not previously been studied. Therefore, individuals who had experienced an episode of favism were studied regarding subsequent fava bean ingestion, including the reason for fava bean ingestion after the initial favic attack and any adverse reactions. In addition, a new hypothesis for the etiology of favism is proposed. PATIENTS AND METHODS: From June 2005 to June 2012, a total of 38 patients with a history of favism were included in this study. Circumstances regarding the initial favic attack were obtained from medical records and patient interviews, and subsequent fava bean ingestion and recurrence of symptoms were investigated. RESULTS: Three of the 38 patients (7.9%) were female, and 35 (92.1%) were male. The mean age was 27.9 years (14-63 years). The first attack of favism occurred before 10 years of age for 31 patients (81.6%) and in the springtime for 35 patients (92.1%). Thirty-three patients (86.7%) regularly ate fava beans before the attack, and 35 (92.1%) resumed eating fava beans within 1-17 years after the attack without symptoms. Two patients (5.2%) experienced a single recurrence of symptoms. No evidence of hemolysis was found in the four patients checked after fava bean re-ingestion. CONCLUSIONS: Patients resumed eating fava bean for various reasons, and the recurrence of symptoms was uncommon. An infectious agent such as a virus may play a role in the development of favism.

Two new class III G6PD variants [G6PD Tunis (c.920A>C: p.307Gln>Pro) and G6PD Nefza (c.968T>C: p.323 Leu>Pro)] and overview of the spectrum of mutations in Tunisia.

We screened 423 patients referred to our laboratory after hemolysis triggered by fava beans ingestion, neonatal jaundice or drug hemolysis. Others were asymptomatic but belonged to a family with a history of G6PD deficiency. The determination of enzymatic activity using spectrophotometric method, revealed 293 deficient (143 males and 150 females). The molecular analysis was performed by a combination of PCR-RFLP and DNA sequencing to characterize the mutations causing G6PD deficiency. 14 different genotypes have been identified : G6PD A(-) (376A>G;202G>A) (46.07%) and G6PD Med (33.10%) were the most common variants followed by G6PD Santamaria (5.80%), G6PD Kaiping (3.75%), the association [c.1311T and IVS11 93c] (3.75%), G6PD Chatham (2.04%), G6PD Aures (1.70%), G6PD A(-) Betica (0.68%), the association [ 376G;c.1311T;IVS11 93c] (0.68%), G6PD Malaga, G6PD Canton and G6PD Abeno respectively (0.34%). Two novel missense mutations were identified (c.920A>C: p.307Gln>Pro and c.968T>C: p.323 Leu>Pro). We designated these two class III variants as G6PD Tunis and G6PD Nefza. A mechanism which could account for the defective activity is discussed.

An unusual syncope cause in the ED: favism.

Favism is an acute hemolytic syndrome occurring in glucose-6-phosphate dehydrogenase (G6PD)-deficient individuals after the consumption of fava beans. The highest incidence is in boys aged 2-6 years. We report a 56-year-old man presented to the emergency department (ED) with recurrent syncope attacks due to favism. In our knowledge, this is the first report of favism-caused syncope in an adult patient without a G6PD deficiency diagnosis in the past and diagnosed in ED.

Glucose-6-phosphate dehydrogenase variants associated with favism in Thai children.

In a study conducted at Songklanagarind Hospital in the south of Thailand, the subjects were 225 patients (210 boys and 15 girls) with glucose-6-phosphate dehydrogenase (G6PD) deficiency. Favism was found in 3.6% of the G6PD-deficient children. Approximately one half of the G6PD-deficient patients with favism were younger than 2 years. Sudden onset of anemia was found within 1 to 3 days after ingestion of dried fava beans. The classic features of favism, which are pallor, hemoglobinuria, and jaundice, were detected in all cases. To characterize the known G6PD mutations in Thai children, molecular analysis was performed for 8 G6PD-deficient children with favism by a combination of polymerase chain reaction-restriction fragment length polymorphism analysis and amplification refractory mutation system analysis. The G6PD variants in these children were G6PD Kaiping 1388,G-->A; G6PD Mahidol 487,G-->A; G6PD Viangchan 871,G-->A; and uncharacterized mutation with silent mutation 1311,C-->T.

Three major glucose-6-phosphate dehydrogenase-deficient polymorphic variants identified in Mazandaran state of Iran.

We report the first investigation of glucose- 6-phosphate dehydrogenase (G6PD) deficiency among the Mazandaranians in the north of Iran. We analysed the G6PD gene in 74 unrelated G6PD-deficient men with a history of favism. Molecular analysis revealed three major different polymorphic variants: G6PD Mediterranean 66.2% (49 out of 74), G6PD Chatham 27% (20 out of 74), G6PD Cosenza 6.75% (5 out of 74). These findings indicated a higher prevalence of G6PD Chatham in this Iranian population than anywhere else in the world. In addition, the distribution of these G6PD variants is more similar to that found in an Italian population than in other Middle Eastern countries.

[Favism]. / Favismo.

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.

[Acute hemolytic anemia caused by glucose-6-phosphate dehydrogenase deficiency]. / Akut haemolytisk anaemi forårsaget af glukose-6-fosfat-dehydrogenasemangel.

Glukose-6-phosphate dehydrogenase (G6PD) is essential in protecting the red cell from oxidative damage. We report a case of acute haemolysis in a child with G6PD deficiency. Because of the severity of the anaemia, the patient was treated with blood transfusions and recovered fully. There are two main variants of G6PD deficiency (the Mediterranean variant and variant A) with different clinical profiles. Acute haemolytic attacks are induced by certain drugs, by infections or, in the Mediterranean variant, by ingestion of fava beans (favism). Increased awareness of this condition is necessary in Denmark because of increased immigration.

Favism by proxy in nursing glucose-6-phosphate dehydrogenase-deficient neonates.

Two nursing neonates deficient in glucose-6-phosphate dehydrogenase developed severe hyperbilirubinemia despite phototherapy. Mothers of both the infants had recently eaten fava beans. The hemolytic triggers found in fava beans may have been absorbed by the mothers and excreted in their breast milk. Carboxyhemoglobin determination performed on one of the infants reflected ongoing hemolysis.