1/16. Direct antiglobulin test negative, non spherocytic autoimmune haemolytic anaemia.We report a case of direct antiglobulin test (DAT) negative warm autoimmune haemolytic anaemia (AIHA). At initial presentation our patient had compensated haemolysis and was DAT positive for complement only. Severe haemolytic anaemia developed some years later with a negative DAT. spherocytes were not a feature of the blood film and osmotic fragility studies were negative. Immune mediated haemolysis was confirmed by fluorescent activated cell sorter (FACS) analysis using antihuman IgG immunoglobulin. Response to immunosuppression was transient but a good response was achieved following splenectomy. Repeat FACS analysis post splenectomy demonstrated a marked rise in IgG coated red cells. Techniques used in establishing the diagnosis and possible mechanisms for this presentation are discussed.- - - - - - - - - - ranking = 1keywords = anaemia (Clic here for more details about this article) |
2/16. glucose-6-phosphate dehydrogenase Velletri.A new variant of red cell glucose-6-phosphate dehydrogenase (G6PD) has been found in a Caucasian man with congenital non-spherocytic haemolytic anaemia. This variant has reduced activity, increased thermolability, increased Michaelis constants for glucose-6-phosphate and nadp, slightly increased electrophoretic mobility, and a biphasic pH-activity profile. The red cell adenine compounds and ATP, are in normal limits. The increased activity of red cell nadp-glutathione reductase is probably the expression of a mechanism of compensation for the decrease of G6PD and a consequence of the decrease of NADPH.- - - - - - - - - - ranking = 0.16666666666667keywords = anaemia (Clic here for more details about this article) |
3/16. 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 = 0.83333333333333keywords = anaemia (Clic here for more details about this article) |
4/16. Combination of congenital nonspherocytic haemolytic anaemia and impairment of granulocyte function in severe glucosephosphate isomerase deficiency. A new variant enzyme designated GPI Calden.In two siblings, children of non-consanguineous parents, glucosephosphate isomerase (GPI) deficiency was found to be the cause of recurrent haemolytic crises. Characterization of the variant enzyme found in both individuals revealed low specific activity in erythrocytes and leucocytes, increased electrophoretic mobility and pronounced thermolability. Evaluation of the electrophoretic data allows the conclusions that these siblings are compound heterozygous carriers of GPI deficiency. The new variant was designated GPI Calden. Further investigations revealed that isolated granulocytes of both siblings show marked reduction of bactericidal activity and decreased production of superoxide anion. With rare exceptions, deficiency of this enzyme was supposed to cause congenital nonspherocytic haemolytic anaemia only. Here we report on two siblings presenting with the characteristic haemolytic anaemia and a significant decrease in granulocyte function, both presumably as the result of GPI deficiency. Our data indicate that impairment of granulocyte function might be a more general feature of severe GPI deficiency than formerly noted.- - - - - - - - - - ranking = 1keywords = anaemia (Clic here for more details about this article) |
5/16. Red cell pyruvate kinase deficiency: adverse effect of oral contraceptives.Erythrocyte enzymopathies are being detected with increasing frequency. The homozygous state for pyruvate kinase (PK) deficiency usually causes chronic non-spherocytic haemolytic anaemia. Aggravation of the condition by a variety of extrinsic factors has been reported, but drugs have rarely been incriminated. A case of severe PK deficiency is presented in which an anovulant drug upsets the usual haematologic balance. This strengthens the suspicion that contraceptive pills may be hazardous in such patients.- - - - - - - - - - ranking = 0.16666666666667keywords = anaemia (Clic here for more details about this article) |
6/16. Congenital haemolytic anaemia resulting from glucose phosphate isomerase deficiency: genetics, clinical picture, and prenatal diagnosis.Glucose phosphate isomerase (GPI) deficiency with severe haemolysis and hydrops fetalis was found in the first child of unrelated, healthy Caucasian parents. The child died at 3 hours. Both parents were found to have 50% of normal red cell GPI activity and qualitative tests on their red cells and white cells showed that each was heterozygous for a different GPI variant allele associated with enzyme deficiency. Tests on the placenta showed that the propositus was a 'compound' heterozygote. Examination of amniotic cells obtained by amniocentesis on the mother at 28 weeks in her second pregnancy led to the prenatal diagnosis of GPI deficiency. This second child, a 'compound' heterozygote at the GPI locus indistinguishable from the first, was successfully treated by immediate exchange transfusion and subsequent blood transfusions.- - - - - - - - - - ranking = 0.66666666666667keywords = anaemia (Clic here for more details about this article) |
7/16. A pyruvate kinase variant with an increased affinity for phosphoenolpyruvate in an individual with congenital non-spherocytic haemolytic anaemia.A red-cell pyruvate kinase (PK) variant from an individual with congenital non-spherocytic haemolytic anaemia was characterized according to the procedure recommended by the International Committee for Standardization in Haematology (ICSH 1979). Activity of the mutant enzyme in haemolysates was one fifth of that found in normal control subjects. The electrophoretic mobility and thermostability of the mutant enzyme were lower than those of the normal enzyme and its apparent affinity for phosphoenolpyruvate was higher.- - - - - - - - - - ranking = 0.83333333333333keywords = anaemia (Clic here for more details about this article) |
8/16. G6PD (Dublin): chronic non-spherocytic haemolytic anaemia resulting from glucose-6-phosphate dehydrogenase deficiency in an Irish kindred.A new variant of G6PD associated with chronic non-spherocytic haemolytic anaemia (CNSHA) in an Irish male is described. This variant is unique in that it has a normal electrophoretic mobility, Michaelis constant for G6P and nadp, and a normal pH optimum, together with a marked increase in utilisation of the substrate 2 deoxy glucose-6-phosphate. It is also relatively heat stable when compared with the normal (B) variant. These characteristics distinguish this variant from previously reported variants associated with CNSHA and we have called it G6PD Dublin.- - - - - - - - - - ranking = 0.83333333333333keywords = anaemia (Clic here for more details about this article) |
9/16. Non-spherocytic haemolytic anaemia in mother and son associated with hexokinase deficiency.The case history, laboratory findings and properties of the enzyme in a patient with hexokinase deficiency are reported. The mother had a haemolytic disorder of similar severity. In these cases the expression of the disease in both mother and son suggests a dominant mode of inheritance. This family further illustrates the necessity of taking the reticulocyte level into account when interpreting red cell enzyme levels.- - - - - - - - - - ranking = 0.66666666666667keywords = anaemia (Clic here for more details about this article) |
10/16. Three pyruvate kinase variants with increased affinity for PEP.Three variants of pyruvate kinase are described which have marked reduction of activity associated with severe non-spherocytic haemolytic anaemia. Each variant shows a reduced K0.5 PEP (the value of the intercept of the abscissa on the Hill plot) and reduced Hill coefficient; FDP activation and ATP inhibition are less than normal and utilization of GDP is increased. The variants are slightly less inhibited by 2,3DPG than controls but require more FDP to relieve this inhibition. Cases 1 and 2 have decreased thermostability but case 3 is normal. The mutant enzymes are further distinguished by their affinity for FDP. Their kinetic and physicochemical properties are compared with other known cases with high affinity for PEP and discussed in terms of a R in equilibrium to T model model for allosteric enzymes.- - - - - - - - - - ranking = 0.16666666666667keywords = anaemia (Clic here for more details about this article) |
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