1/26. Two novel glucose-6-phosphate dehydrogenase variants found in newborn mass-screening for galactosaemia.glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive disorder in which haemolytic anaemia is the major symptom. The Beutler spot test employed in mass-screening for galactosaemia in newborns requires several intrinsic erythrocyte enzymes such as G6PD for its reaction and can theoretically detect G6PD deficiency apart from galactose-1-phosphate uridyltransferase deficiency. In this study, we detected two patients with G6PD deficiency using the quantitative Beutler test which was recently developed in our laboratory. Both patients lacked erythrocyte G6PD activity but exhibited no clinical symptoms. Molecular analysis in patients 1 and 2 revealed two novel missense mutations of C853T causing R285C and A1220C causing K407T, respectively. Molecular rather than enzymatic analysis was required in familial studies to detect and diagnose the carrier state. To date these patients have avoided oxidant stress and haemolytic diatheses have not been induced. CONCLUSION: Our results indicate that the quantitative Beutler test can detect glucose-6-phosphate dehydrogenase deficiency of class 1 and 2 and is therefore useful for early intervention and prevention of haemolytic diathesis in patients with this disorder.- - - - - - - - - - ranking = 1keywords = anaemia (Clic here for more details about this article) |
2/26. Chronic haemolytic anaemia and glucose-6 phosphate dehydrogenase deficiency. Case report and review of the literature.Deficiency in glucose-6-phosphate dehydrogenase (G6PD) is the most common enzymopathy, and more than 125 different mutations causing G6PD deficiency have been identified. Chronic haemolytic anaemia (CHA) associated with G6PD deficiency is rare, but there is a cluster of mutations causing CHA between amino acids 361-428 which are encoded by exon 10 of the G6PD gene. This region is involved in the dimer formation of the active G6PD enzyme and therefore plays an important role for enzyme stability and activity. Here, we report a 17-year-old patient with CHA, who carries a rare G --> A mutation at nucleotide 1160 which causes an R387H amino acid substitution. We review the reports of the seven previously described patients with this mutation, concluding that G6PD deficiency should be considered as a rare differential diagnosis of chronic haemolytic, non-spherocytic anaemia.- - - - - - - - - - ranking = 6keywords = anaemia (Clic here for more details about this article) |
3/26. Hereditary spherocytosis (HS) due to loss of anion exchange transporter.BACKGROUND. Hereditary spherocytosis encompasses a heterogenous group of inherited disorders due to alteration of r.b.c. surface/volume ratio. spectrin deficiency is the most common observed defect. We analyzed a case of HS associated with band 3 deficiency without spectrin reduction. methods. In the study of a family originating from southern italy, we show that a 20% deficiency of band 3 with normal spectrin content may be responsible for dominantly inherited hereditary spherocytosis (HS). The proband is a 12 years old girl consulting for jaundice, chronic anaemia and splenomegaly. Her mother had a similar haematologic phenotype. RESULTS. Electrophoretic analysis of erythrocyte membrane proteins showed a deficiency in band 3 protein. Band 3 protein chymotryptic fragments, deglycosylated band 3, and its isolated cytoplasmic domain, all displayed normal electrophoretic migrations. Furthermore, the tryptic peptides profile of the cytoplasmic domain of the protein did not demonstrate any abnormality, nor did the amino acid composition of the peptides. Analysis of the membrane proteins during erythrocyte ageing, evaluated in density-fractionated red cells, showed that band 3 content was normal in the lighter fraction, whereas in the denser fraction band 3 deficiency was more pronounced than in membranes from non fractionated red blood cells. CONCLUSIONS. This case describes HS due to anion exchange transporter deficiency. Our results on fractioned red cells support the hypothesis that the defect was probably due to a band 3 protein loss during cell ageing and not to a primitive quantitative defect.- - - - - - - - - - ranking = 1keywords = anaemia (Clic here for more details about this article) |
4/26. Neonatal transfusion malaria requiring exchange transfusion.Transfusion-acquired malaria in a neonate is uncommon and factors such as drug resistance and concomitant G6PD deficiency can cause treatment difficulties. We report a 26-day-old premature infant with chloroquine-resistant malaria who underwent exchange transfusion. The aim was to correct anaemia, decrease parasitaemia and remove G6PD-deficient cells to allow successful use of quinine.- - - - - - - - - - ranking = 1keywords = anaemia (Clic here for more details about this article) |
5/26. Massive acute haemolysis in neonates with glucose-6-phosphate dehydrogenase deficiency.Three neonates with glucose-6-phosphate dehydrogenase (G6PD) deficiency are described. All three patients suffered an episode of massive acute haemolysis, in the absence of blood group incompatibilities, infection, or ingestion of oxidising agents known to trigger haemolysis. One patient died, but the other two survived after an exchange transfusion. This highlights that G6PD deficiency in the neonatal period may present with severe anaemia in association with hyperbilirubinaemia.- - - - - - - - - - ranking = 1keywords = anaemia (Clic here for more details about this article) |
6/26. Glibenclamide-induced acute haemolytic anaemia revealing a G6PD-deficiency.A 58-year-old woman was admitted at diagnosis of type 2 diabetes without keto-acidosis. blood glucose was normalized initially with insulin. Whilst taking glibenclamide, she developed acute haemolysis. She was homozygous for glucose-6-phosphate dehydrogenase (G6PD) deficiency and had no other factors predisposing haemolysis. We reviewed the literature and discuss the relationship between glibenclamide and haemolytic crisis and between G6PD-deficiency and diabetes.- - - - - - - - - - ranking = 4keywords = anaemia (Clic here for more details about this article) |
7/26. Henna (Lawsonia inermis Linn.) induced haemolytic anaemia in siblings.Henna is a traditional cosmetic agent and is used worldwide. It is used worldwide not only as a cosmetic agent to stain the hair, skin and nails but also is applied to the body on lesions in the treatment of seborrheic dermatitis or fungal infections. Different pathologies have been described as caused by henna. The aim of this study is to draw attention to the adverse effects of henna, applied over the whole body, observed in glucose-6-phosphate dehydrogenase (G6PD) enzyme deficient siblings. In the present paper, we report on two siblings with G6PD deficiency who developed haemolytic anaemia following topical application of henna to their whole body to treat skin lesions. Their parents were also found to be G6PD deficient. Even though anti-inflammatory, analgesic and antipyretic effects of henna have been shown, it may cause severe side-effects in some cases. For this reason, especially, in the regions where G6PD enzyme deficiency is common, people should be informed about the side-effects of topical henna application and clinicians should be aware of these manifestations.- - - - - - - - - - ranking = 5keywords = anaemia (Clic here for more details about this article) |
8/26. silver sulphadiazine-induced haemolytic anaemia in a glucose-6-phosphate dehydrogenase-deficient burn patient.A 20-year-old soldier sustained 35 per cent body surface area burns by open flames. He was treated with topical application of 1 per cent silver sulphadiazine (SSD) twice daily. Four days postburn he developed acute haemolytic anaemia. Withdrawal of SSD was followed by complete recovery. A glucose-6-phosphate dehydrogenase (G6PD) deficiency was proven by pathological Motulski tests. Although the hazards of SSD are well indicated by the manufacturers, there appear to be no written reports of haemolysis induced by this drug in G6PD-deficient patients.- - - - - - - - - - ranking = 5keywords = anaemia (Clic here for more details about this article) |
9/26. Identification of a single base change in a new human mutant glucose-6-phosphate dehydrogenase gene by polymerase-chain-reaction amplification of the entire coding region from genomic dna.We report the characterization at the molecular level of a mutant glucose-6-phosphate dehydrogenase (G6PD) gene in a Greek boy who presented with a chronic non-spherocytic haemolytic anaemia. In order to identify the mutation from a small amount of patient material, we adopted an approach which by-passes the need to construct a library by using the polymerase chain reaction. The entire coding region was amplified in eight sections, with genomic dna as template. The dna fragments were then cloned in an M13 vector and sequenced. The only difference from the sequence of normal G6PD was a T G substitution at nucleotide position 648 in exon 7, which predicts a substitution of leucine for phenylalanine at amino acid position 216. This mutation creates a new recognition site for the restriction nuclease BalI. We confirmed the presence of the mutation in the dna of the patient's mother, who was found to be heterozygous for the new BalI site. This is the first transversion among the point mutations thus far reported in the human G6PD gene.- - - - - - - - - - ranking = 1keywords = anaemia (Clic here for more details about this article) |
10/26. aspirin-induced acute haemolytic anaemia in glucose-6-phosphate dehydrogenase-deficient children with systemic arthritis.In a 4-year 7-month-old boy with glucose-6-phosphate dehydrogenase deficiency and systemic arthritis a severe haemolytic anaemia occurred after the administration of acetylsalicylic acid. Erythrocyte fragmentation, with haemoglobin condensation zones next to clear zones, was observed on peripheral blood smears. Since viral or bacterial infections were excluded on the basis of the laboratory data, the anaemia was ascribed to aspirin.- - - - - - - - - - ranking = 6keywords = anaemia (Clic here for more details about this article) |
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