1/3. Coexistence of congenital red cell pyruvate kinase and band 3 deficiency.The authors report the case of a 9-year-old Caucasian girl, born in northern portugal, with chronic nonspherocytic haemolytic anaemia and without family history of anaemia. The aethiological study of this anaemia revealed pyruvate kinase deficiency (PKD), because of two previously described mutations (426Arg-->Trp and 510Arg-->Gln). Since the blood smear revealed features not fully compatible with PKD diagnosis, additional tests were performed for the propositus and her parents, namely red blood cell membrane protein analysis. A decrease in proteins band 3 (15%) and 4.2 (18%) was found in the propositus. Her father presented only a decrease in band 3 (11%). Coexistence of PKD and erythrocyte membrane proteins deficiency in the same patient is very uncommon. Our findings suggest that a careful blood smear observation may lead to the identification of a combined deficiency in erythrocyte membrane proteins and enzymopathies.- - - - - - - - - - ranking = 1keywords = anaemia (Clic here for more details about this article) |
2/3. diagnosis of pyruvate kinase deficiency in a transfusion-dependent patient with severe hemolytic anemia.In a 2-yr old girl a hemolytic anemia was present since birth requiring multiple blood transfusions. pyruvate kinase deficiency was suspected on the basis of a marginal enzyme activity, but could not be established due to the presence of massive numbers of donor cells in her peripheral blood. However, by density fractionation we succeeded in the isolation of a small fraction of the patient's own cells, in which a severe pyruvate kinase deficiency could be detected. In contrast hexokinase and glucose-6-phosphate dehydrogenase activities were extremely high, which is indicative that a very immature cell population is present in this fraction. In immunofluorescence studies a clear crossreaction was apparent with anti M2-type pyruvate kinase antibodies, whereas only a faint reaction with anti L-type could be detected. Despite the presence of a slight amount of L-type immunoreactive material, the residual activity in the patient's cell fraction could only be attributed to M2-type pyruvate kinase as was shown by cellulose acetate electrophoresis.- - - - - - - - - - ranking = 20.16025306324keywords = hemolytic (Clic here for more details about this article) |
3/3. Erythrocyte pyruvate kinase deficiency. A case of severe congenital hemolytic anemia.Although it occurs rarely, erythrocyte pyruvate kinase deficiency is a cause of neonatal jaundice and anemia across many ethnic and geographic groups. In this report of a missouri case, an infant with this condition was also found to have Pelger-Huet leukocyte anomaly.- - - - - - - - - - ranking = 16.128202450592keywords = hemolytic (Clic here for more details about this article) |