Clinical Manifestations and Therapeutic Findings of the Children with Glucose-6-Phosphate Dehydrogenase Deficiency Presenting Favism.

AIM: Favism is characterized as acute anemia, due to Glucose-6-phosphate dehydrogenase (G6PD) deficiency as a result of fava beans intake. It is associated with paleness, jaundice, and hemoglobinuria. In this study, signs, symptoms and therapeutic findings of the patients with hemolysis due to G6PD deficiency were investigated in Shahid Madani Hospital of Khorramabad, Lorestan. METHODS: This is a single-center cross-sectional descriptive study that was conducted on all children with G6PD deficiency-induced hemolysis. RESULTS: 308 children (64.3% male and 35.7% female) were included in this study. The most common complaint was jaundice (82.5%) and the most common cause of hemolysis was the intake of fava bean (85.7%). 68% of the children were treated with hydration/fluid therapy. Blood transfusion was conducted in 36.36% of the cases and the mean of blood administered was 18.9 cc/kg. CONCLUSION: In this study, hydration therapy was performed in most of the children presenting favism. Also, the incorrect calculation of the amount of blood needed for transfusion increased the frequency of blood transfusions and prolonged hospitalization time.

Pattern of Hemolytic Anemia Among Egyptian Pediatric Emergency Department Patients.

OBJECTIVES: The emergency department is considered the backbone of the medical service offered in any hospital. Yet, the data on the frequency of pediatric hematological presentation is scanty. Anemia occurs in 9% to 14% of pediatric emergency department (ED) patients. Glucose-6-phosphate dehydrogenase (G6PD) deficiency affects more than 400 million people worldwide. Unfortunately, we do not have screening program for G6PD deficiency in Egypt. The aim of this study is to assess the burden of hemolytic crisis among Egyptian children visiting ED. METHODS: This is a prospective cross-sectional study among children presenting with acute hemolytic crisis in the ED of New Children Hospital, Cairo University from March to June 2016. Cases underwent full history taking, clinical examination, and laboratory tests based on clinical judgment of the resident. We categorized the presenting hemolytic anemias into 3 groups: G6PD deficiency, acute hemolysis in previously diagnosed patients with chronic hemolytic anemia, and acute undiagnosed hemolytic anemia. RESULTS: Our study included 143 patients, 109 males (76.22%) and 34 females (23.76%), with a mean age 36 months (range, 3-188 months), who presented with hemolytic anemia in the ED. Seventy-six cases (53.1%) were diagnosed as G6PD deficiency, 36 (25.2%) were diagnosed as chronic hemolytic anemia, and 31 (21.7%) were diagnosed as undiagnosed acute hemolytic anemia. CONCLUSIONS: Hemolytic anemia is very common presentation in ED. G6PD deficiency is the most common cause, representing 53.1% of the hemolytic anemia.

Estás ictérico, ¿qué has comido? / You have jaundice. What did you eat?

La glucosa-6-fosfato deshidrogenasa (G6PD) es una enzima presente en los glóbulos rojos. La mayoría de las personas que presentan déficit de esta enzima se encontraran asintomáticas a lo largo de toda la vida. Pero si el paciente entra en contacto con alguno de los factores desencadenantes (habas, algunos antibióticos, infecciones) puede presentar una anemia hemolítica severa que debutará con icteria, astenia y coluria. El déficit de esta enzima es hereditario ligado al cromosoma X, así pues es transmitida por las madres portadoras a la mitad de sus hijos varones, las hijas que reciben el gen pueden verse afectadas o ser portadoras, siendo importante el consejo genético. Glucose-6-phosphate dehydrogenase (G6PD) is an enzyme present in red blood cells. Most people who have this enzyme deficiency were asymptomatic throughout life. But if a patient comes into contact with one of the triggers (beans, some antibiotics, infections) may present a severe hemolytic anemia with icteria debut, asthenia and coluria. The deficit of this enzyme is linked to hereditary X chromosome, so it is transmitted by mothers to half their sons, daughters who receive the gene may be affected or be carriers,being the important genetic counseling (AU)

Glucose-6-phosphate dehydrogenase (G6PD) is an enzyme present in red blood cells. Most people who have this enzyme deficiency have been asymptomatic throughout their life. However, when a patient comes into contact with one of the triggering factors (beans, some antibiotics, infections), they may present with severe hemolytic anemia that debuts with jaundice, asthenia and coluria. The deficiency of this enzyme is hereditary and is linked to the X chromosome. It is transmitted by mothers to half of their sons. The daughters who receive the gene may be affected or be carriers, so that genetic counseling is important (AU)

Molecular characterization of erythrocyte glucose-6-phosphate dehydrogenase deficiency in Tunisia.

Screening of G6PD deficiency was carried out on 79 unrelated subjects (32 females and 47 males), all coming from out consultation. DNA from deficient subject (11 females and 30 males) was analyzed for the presence of G6PD mutation. Known mutations were studied by the appropriate restriction enzyme digestion of fragment amplified by PCR. Where the mutation could not be identified in this way, the samples were subjected to SSCP analysis and abnormal fragments were sequenced. Through these methods, seven different mutations have been identified. Among deficient females, eight had the African variant A-(tow of them were homozygous) and three had the Mediterranean variant, one of them was homozygous and have had a haemolytic crisis after ingestion of fava beans showing at birth manifestation of neonatal jaundice. Among deficient males, four were hospitalized and transfused after a haemolytic crisis due to ingestion of fava beans. All of them have had manifestation of neonatal jaundice. Of them, one carried the Mediterranean variant and three others had the African variant A-. Among the remaining deficient males, 15 had A-variant, two had the Aurès mutation. SSCP analysis of nine mild deficient males, revealed the presence of the association of 1311 CT/93 TC in two subjects, a newly described silent mutation in the exon 12 associated with the polymorphism in the intron 11 93 TC in one subject and tow single intronic base deletion. The first is IVS V 17 (-C) found in two subjects and the second is IVS VIII 43 (-G) encountered in four subjects.

New legume sources as therapeutic agents.

This review evaluates the potential health benefits of three legume sources that rarely appear in Western diets and are often overlooked as functional foods. Fenugreek (Trigonella foenum graecum) and isolated fenugreek fractions have been shown to act as hypoglycaemic and hypocholesterolaemic agents in both animal and human studies. The unique dietary fibre composition and high saponin content in fenugreek appears to be responsible for these therapeutic properties. Faba beans (Vicia faba) have lipid-lowering effects and may also be a good source of antioxidants and chemopreventive factors. Mung beans (Phaseolus aureus, Vigna radiatus) are thought to be beneficial as an antidiabetic, low glycaemic index food, rich in antioxidants. Evidence suggests that these three novel sources of legumes may provide health benefits when included in the daily diet.

Red cell glucose-6-phosphate dehydrogenase phenotypes in Iraq.

We attempted to characterize biochemically glucose-6-phosphate dehydrogenase (G6PD) variants in Iraqi individuals. Thus 758 healthy Iraqi males aged 18-60 years were randomly selected and 46 (6.1%) were G6PD deficient. Although the predominant non-deficient G6PD phenotype was G6PD B (92.6%), G6PD A+ was found in polymorphic frequency (1.3%). In the deficient group, 31 cases were fully characterized, including 17 cases with features consistent with G6PD Mediterranean variant, while 12 had other biochemical features and were labelled as non-Mediterranean variant. The remaining two deficient cases were characterized as G6PD A- variant. The presence of a significant number of non-Mediterranean variant was unexpected and may be related to the more heterogeneous background of the Iraqi people.

Marked decline of favism after neonatal glucose-6-phosphate dehydrogenase screening and health education: the northern Sardinian experience.

Favism is a potentially fatal manifestation of glucose-6-phosphate dehydrogenase (G6PD) deficiency, and it is therefore a public health problem in areas where this genetic abnormality is common. In the district of Sassari (northern Sardinia), the frequency of G6PD male hemizygotes is approximately 7.5%, and therefore all newborns since 1971 have been screened for G6PD deficiency. We have analyzed the incidence of favism in this community in two 10-year periods: (1) 1961-1970; and (2) 1981-1990. In period 1, there were 508 cases of favism, of which 76% occurred in boys. In period (2) there were 144 cases of favism, of which only 52% in boys. Thus, between the two periods there was an overall decrease in the incidence of favism of 75%, whereas the proportion of girls affected has approximately doubled. These data suggest that neonatal screening and health education programs can produce a substantial decrease in the number of cases of favism, and that the relative increase in favism in girls is possibly due to failure of the screening method used to detect all the heterozygotes for G6PD deficiency.

Glucose-6-phosphate dehydrogenase enzyme activity in normal, hemizygote and heterozygote Kelantanese Malays.

This prospective study was performed to quantify glucose-6-phosphate dehydrogenase (G6PD) enzyme activity in deficient males and female heterozygotes. The methods used in the study were the fluorescent spot test, G6PD enzyme electrophoresis on cellulose acetate and quantitative assays. Forty-seven children who had been detected as spot screen deficient at birth were rescreened. Their first degree relatives were also included in the study. The mean enzyme activity of deficient males was 0.74 iu/g Hb (s.d. +/- 0.8), of female heterozygotes was 6.5 iu/g Hb (s.d. +/- 3.2) and of normal males was 12.1 iu/g Hb (s.d. +/- 3.5). The mean activity in deficient males was 6.1% of normal males. Most (35 of 47) of these fell into class 2 in Beutler's classification of G6PD variants. This indicates a population which may be susceptible to favism. Female heterozygotes had an intermediate enzyme activity with a wide scatter. Using a cut off point of enzyme activity of below 9.0 iu/g Hb gave sensitivity and specificity of 87% and 84% in detecting female heterozygotes. This group could be defined more accurately by combining quantitative assays with family studies.

G6PD deficiency and fava bean consumption do not produce hemolysis in Thailand.

Favism, a hemolytic condition associated with fava bean consumption among the glucose-6-phosphate dehydrogenase (G6PD) deficient persons, is well described in the Middle East and Mediterranean areas. However, it is not well documented among the Thais or other Southeast Asians. It is possible that it does exist but that hemolysis which develops is of very minor degree and thus escapes clinical detection. This cross-sectional study hypothesizes that if the fava bean and G6PD deficiency interact in the Thai population, they should cause a significant difference in hematocrit level. The study was carried out in a community hospital in a malaria endemic area. We found that there was a trivial difference of the hematocrit (approximately 1%) which was too small to warrant any clinical significance after controlling for the extraneous effects of age, sex, use of malaria chemoprophylaxis, falciparum infection, use of analgesics/antipyretics and admission status of the patients (p = 0.668). This may be due to the presence of different G6PD mutants to those found elsewhere or due to different consumption patterns of fava beans among the Thais compared to people in other areas with high prevalence of G6PD deficiency.

[Epidemiologic study of acute favism cases (G6PD deficiency) in the Autonomous Community of Murcia during 1983-1987. Report of a case]. / Estudio epidemiológico de los casos de favismo agudo (déficit de G6PDHasa) en la Comunidad Autónoma de Murcia durante el período 1983-1987. A próposito de un caso.

This study reminds primary care teams of the fundamental importance of epidemiological histories for diagnosing broad bean disease in rural areas in which broad beans are regularly harvested and the patient's nationality lead one to suspect this illness. A retrospective study of the consumption of broad beans in the region of Murcia is made for the period 1983-1987, the variables of which are: Age, sex, geographical distribution, epidemiological history, diagnosis based on a clinical analysis, need for transfusion, treatment, progress and family case study. Among the conclusions, the greatest number of cases occur in males ranging from 0 to 10 years of age, residents basically of Murcia and the surrounding districts, with a prior history of having ingested broad beans, showing symptoms, revealed through a clinical analysis, which are compatible with are compatible with an hemolytic anemia, for which it was necessary to provide transfusions for a considerable number of cases, achieving good progress and a treatment based on the procedure of fundamentally eliminating broad beans from their diet and certain medicines, and lastly, a later study of the members of these patients' families.

[Hereditary blood anomalies in the Abruzzi population in Valle del Sangro: from hematologic genetics to the history of a population]. / Le anomalie ereditarie del sangue nella popolazione abruzzese della valle del Sangro: dalla genetica ematologica alla storia di una popolazione.

A high incidence of hereditary blood anomalies (particularly Pelger-Huët's congenital granulocytic anomaly and Lepore haemoglobinopathy) is reported in the people of the Sangro Valley (Abruzzo, South Italy). The clinical, haematological, genetic and demographic implications of the high incidence of these pathologies are discussed.

Favism and hemolytic anemia in glucose-6-phosphate dehydrogenase-deficient subjects in North Sardinia.

The present paper reports the incidence from 1965 to 1979 of acute hemolytic anemia for a total of 948 cases in G-6-PD-deficient subjects due to the ingestion of fresh or dried fava beans or certain drugs and to viral infections. The highest percentage of hemolytic crises was due to fresh fava beans (94.4%). No cases of favism were observed in breast-fed babies whose mothers had eaten fava beans or from pollen inhalation. The male sex proved to be the hardest hit. Hemoglobin values were lower than or equal to 7 g/dl in about 75% of males and 50% of females. Total bilirubin values were lower than 103 mumol/l (6 mg/dl) in about 75% of males and 85% of females. Both the hemoglobin and bilirubin values were statistically significant. Mean transaminase values (SGPT) were significantly higher than those of normal controls. No correlation between favism and blood groups was found.