1/5. Congenital non-spherocytic haemolytic anaemia variants with primary and secondary pyruvate kinase deficiency. I. Erythrokinetic patterns.The patterns of survival of isotope-labelled erythrocytes were examined in patients suffering from two variants of congenital non-spherocytic haemolytic anaemia with decreased erythrocyte pyruvate kinase (PK) activity. In one variant, with primary PK defect (PPKD) random destruction of erythrocytes was predominant in the process of haemolysis. In the second variant, with primary magnesium activated adenosine triphosphatase (ATP-ase) (Mg ) deficiency and a secondary decrease in PK activity, erythrocytes were destroyed by senescence. Two subpopulations of labelled erythrocytes with different destruction rates were observed in all patients examined, except one with the second variant, with very mild haemolysis. splenectomy, performed on two patient, was successful only in the variant with PPKD.- - - - - - - - - - ranking = 1keywords = suffering (Clic here for more details about this article) |
2/5. 'Gd(-) Hotel Dieu': a new G-6PD variant with chronic hemolysis in a Negro patient from senegal.A G-6PD deficiency was detected in a Negro patient from senegal suffering from congenital nonspherocytic hemolytic anemia. The main characteristics of this variant were: profound defect of G-6PD activity in the red cells, decreased immunologic specific activity, fast electrophoretic mobility, decreased Km-G-6P and normal Km-nadp , normal inhibition by ATP and NADPH, slightly increased utilization of the substrate analogues, slightly biphasic pH curve, high heat lability, subnormal activation energy. The characteristics of this variant being unique, it was called 'G-6PD Hotel Dieu.'- - - - - - - - - - ranking = 1keywords = suffering (Clic here for more details about this article) |
3/5. G-6-PD Guadalajara. A new mutant associated with chronic nonspherocytic hemolytic anemia.This paper describes a new G-6-PD variant designated Guadalajara, which was found in a Mexican boy suffering from chronic hemolytic anemia. The red cell enzyme activity of the subject is about 14%. The mutant enzyme showed rapid electrophoretic mobility, slightly increased affinity for glucose-6-phosphate, slightly decreased affinity for nadp , moderately elevated utilization of substrate analogues, and normal heat stability, pH curve, and inhibition by NADPH. G-6-PD Guadalajara differs from all previously reported variants and is the first variant associated with chronic hemolysis found in mexico.- - - - - - - - - - ranking = 1keywords = suffering (Clic here for more details about this article) |
4/5. Glucosephosphate isomerase deficiency, a new variant in a Dutch family. Case report.The clinical course and the biochemical findings are reported from a patient suffering from glucosephosphate isomerase (G.P.I EC 5.3.1.9) deficiency type Nijmegen. This disorder decleares itself as a non-spherocytic hemolytic anemia, presenting in the neonatal period. In the patient hemolysis was of the same degree during the years. However, trivial infections could often trigger an increase in hemolysis requiring treatment by blood transfusions. Enzyme studies revealed that the GPI deficiency in this patient was caused by a double heterozygous state for two different GPI deficient alleles. The presence of one of these deficient alleles in the proband's parents and grandparents, was not accompanied by any sign of hemolysis, as for instance a shortened red-cell survival.- - - - - - - - - - ranking = 1keywords = suffering (Clic here for more details about this article) |
5/5. Glucosephosphate isomerase deficiency type Liege: a new variant with congenital nonspherocytic hemolytic anemia.GPI deficiency was detected in a three year old girl of Morrocan origin suffering, since birth, from hemolytic anemia. The defective GPI is very thermolabile and migrates on starch gel electrophoresis as a single band with a mobility of 96% of the normal main band. The purification of the patient's GPI resulted in a 16000-fold enriched preparation, free of any other enzyme activity. The yield was 35%. The purified enzyme was very unstable even at low temperature. The kinetic constants of the forward and backward reaction as well as the inhibitory constants of 2,3-DPG and 6-PG do not significantly differ from normal values. The biochemical properties of the patient's GPI indicate a new variant designated type Liege.- - - - - - - - - - ranking = 1keywords = suffering (Clic here for more details about this article) |