1/9. Several mutations including two novel mutations of the glucose-6-phosphate dehydrogenase gene in Polish G6PD deficient subjects with chronic nonspherocytic hemolytic anemia, acute hemolytic anemia, and favism.dna sequencing revealed seven different glucose-6-phosphate dehydrogenase (G6PD) mutations in G6PD deficient subjects from 10 Polish families. Among them we found two novel mutations: 679C-->T (G6PD Radlowo, class 2) and a 1006A-->G (G6PD Torun, class 1). Variant G6PD Radlowo was characterized biochemically. Both novel mutations were analyzed using a model of the tertiary structure of the human enzyme. The main chain of G6PD Torun is different from the wild-type G6PD. The remaining mutations identified by us in deficient Polish patients were: 542A-->T (G6PD Malaga), 1160G-->A (G6PD Beverly Hills), 1178G-->A (G6PD Nashville), 1192G-->A (G6PD Puerto Limon), and 1246G-->A (G6PD tokyo). Variant tokyo was found in four families. In one of them favism was the first clinical sign of G6PD deficiency and chronic nonspherocytic hemolytic anemia (CNSHA) was diagnosed later. Variants G6PD Nashville and G6PD Puerto Limon were accompanied by the silent mutation 1311C-->T of the G6PD gene.- - - - - - - - - - ranking = 1keywords = hemolytic (Clic here for more details about this article) |
2/9. Hemolytic crisis after excessive ingestion of fava beans in a male infant with G6PD Canton.After ingesting fava beans, a 26-month-old Chinese-Japanese male infant showed a sickly complexion and yellowish-brownish skin and was hospitalized. Severe hemolytic anemia was observed on admission, and transfusion of 200 ml of packed red cells was required. Red cell enzyme assay revealed that the patient and the mother were deficient in glucose-6-phosphate dehydrogenase (G6PD). Subsequent molecular analysis showed that the patient had a missense mutation 1376 G to T (G6PD Canton) and his mother was a homozygote for the mutation. The patient was a son of a Chinese (Taiwanese) mother and a Japanese father. Although G6PD deficiency is rare in the original Japanese population, the number of "imported" cases could be rising rapidly. This is the first reported Japanese case of G6PD deficiency with G6PD Canton.- - - - - - - - - - ranking = 0.11111111111111keywords = hemolytic (Clic here for more details about this article) |
3/9. Megaesophagus in an asthmatic patient and beta2 stimulant treatment by inhalation.Megaesophagus is a severe esophageal malformation. We report a case of megaesophagus in an asthmatic patient affected by congenital non-haemolytic anaemia and undergoing beta2 stimulant treatment by inhalation. Our case could be due to chronic beta2 receptor stimulation with imbalance of alpha and beta receptor, without any implication of favism.- - - - - - - - - - ranking = 0.0064523517632372keywords = anaemia (Clic here for more details about this article) |
4/9. Vitreoretinal hemorrhages after ingestion of fava beans in a G-6-PD-deficient subject.A case of vitreo retinal hemorrhages following a hemolytic crisis by fava beans in a G-6-DP-deficient patient is reported. Intravascular coagulation due to thromboplastin-like substances liberated by the diseased RBC could be the cause. The possibility of vitreoretinal hemorrhages of this nature in young subjects from the areas where G-6-PD deficiency is endemic is stressed.- - - - - - - - - - ranking = 0.11111111111111keywords = hemolytic (Clic here for more details about this article) |
5/9. Gd(-) Muret and gd(-) Colomiers, two new variants of glucose-6-phosphate dehydrogenase associated with favism.Two males subjects are described with hitherto undescribed glucose-6-phosphate dehydrogenase (G6PD) variants. The first is of French ancestry, the second of Sicilian extraction. Each subject suffered from acute hemolytic anemia following ingestion of broad beans (vicia fava). In both cases the hemolytic crisis occurred in a late period of life (29 and 58 years). No previous hemolytic crisis was recorded. The electrophoretic and kinetic properties of the mutant enzymes examined after purification from the red cells allowed each to be distinguished from other G6PD variants reported until now. The first variant was named Gd(-) Muret, the other Gd(-) Colomiers.- - - - - - - - - - ranking = 0.33333333333333keywords = hemolytic (Clic here for more details about this article) |
6/9. favism in a female newborn infant whose mother ingested fava beans before delivery.We describe a case of favism in a female newborn infant with glucose-6-phosphate dehydrogenase (G6PD) deficiency whose mother had ingested fava beans 5 days before delivery. At birth there were clinical and hematologic signs of hemolytic anemia, hemoglobinuria, and no blood group immunization. Study of the G6PD activity and 2-deoxy-glucose-6-phosphate utilization rate revealed that the infant and the mother were heterozygous for G6PD deficiency.- - - - - - - - - - ranking = 0.11111111111111keywords = hemolytic (Clic here for more details about this article) |
7/9. Haptoglobin therapy for acute favism: a Japanese boy with glucose-6-phosphate dehydrogenase Guadalajara.We report the case of a 2-year-old Japanese boy with acute favism who was treated with human haptoglobin products. He had been exhibiting chronic nonspherocytic haemolytic anaemia until the diagnosis of glucose-6-phosphate dehydrogenase (G6PD) deficiency when 14 months old. He suffered a favic crisis at 24 months of age, when the administration of haptoglobin was effective for relieving bilirubinaemia and haemoglobinuria. serum-free Hb rapidly decreased to normal levels despite the sustained level of serum lactate dehydrogenase. His G6PD gene was G6PD Guadalajara. This is the first application of haptoglobin therapy for acute favism and the first reported case of Japanese G6PD deficiency with typical favic crisis. Haptoglobin treatment might be helpful for managing the haemolytic crisis in the disease.- - - - - - - - - - ranking = 0.0064523517632372keywords = anaemia (Clic here for more details about this article) |
8/9. Two new mutations of the glucose-6-phosphate dehydrogenase (G6PD) gene associated with haemolytic anaemia: clinical, biochemical and molecular relationships.In two unrelated Spanish males with glucose-6-phosphate dehydrogenase (G6PD) deficiency and haemolytic anaemia, and two different novel point mutations in the G6PD gene, have been identified. A C to T transition at nucleotide 406 resulting in a (136) Arg to Cys substitution and a C to G transition at nucleotide 1155 resulting in a (385) Cys to Trp substitution. These two molecular defects have not been described before and are designated G6PD Valladolid 406 C-->T and G6PD Madrid 1155 C-->G. in vitro biochemical characterization of both mutant enzymes showed important differences in their molecular properties according to their different clinical behaviour. In G6PD Valladolid, the mutation of which is located in exon 5, the normal in vitro heat stability may explain its mild clinical expression (low-grade haemolysis interrupted by an acute haemolytic crisis at age 70). In G6PD Madrid, the mutation, located in exon 10, results in a deficient variant associated with neonatal jaundice and life-long chronic nonspherocytic haemolytic anaemia (CNSHA). This finding further emphasizes the importance of this specific region of the G6PD gene in the stabilization of the G6PD molecule. Putative relationships between these single point mutations and the molecular properties of the mutant enzymes are also discussed.- - - - - - - - - - ranking = 0.038714110579423keywords = anaemia (Clic here for more details about this article) |
9/9. 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.- - - - - - - - - - ranking = 0.11111111111111keywords = hemolytic (Clic here for more details about this article) |