Anomalias eritrocitárias em crianças portadoras de uma variedade rara de esferocitose hereditária

Copyright © Ordem dos MédicosRed cell acetylcholinesterase (AChE) and Na, + K + - adenosinetriphosphatase (ATPase) activities, cell 2,3 - diphosphoglycerate (2,3 - DPG) and adenosinetriphosphate (ATP) content and filterability ratio were studied in two children (with moderate hemolytic anemia and marked spherocytosis) and their parents. Patients’ parents have no medical problem but evidenced discrete spherocytosis on peripheral smear. Except some increased apparent red cell rigidity detected in the father, all the parameters studied in both parents were found to be normal, as compared to healthy controls. In contrast, red cell rigidity, 2,3-DPG and ATP levels and Na, + K + ATPase activity were increased in both children, whereas AChE activity was similar to values of normal subjects. These observations suggest that both affected patients suffered from homozygous hereditary spherocytosis linked to an apparently recessively inherited red cell membrane defect.This study was supported in part by a grant from INIC (MbL2).info:eu-repo/semantics/publishedVersio

Early modification of sickle cell disease clinical course by UDP-glucuronosyltransferase 1A1 gene promoter polymorphism

Elevated erythrocyte destruction in sickle cell disease (SCD) results in chronic hyperbilirubinaemia and, in a subset of patients, cholelithiasis occurs. We investigated whether the (TA)n promoter polymorphism in the UDP-glucuronosyltransferase 1A1 gene (UGT1A1) may modify bilirubin metabolism, influencing bilirubinaemia, predisposition to cholelithiasis and subsequent cholecystectomy, in a group of 153 young SCD patients (mean age 12.0 +/- 9.0 years) predominantly of Bantu beta S haplotype. The concomitant effect of alpha thalassaemia was also analysed. Among the several UGT1A1 genotypes found, the most frequent were the (TA)6/(TA)6 (n = 37), (TA)6/(TA)7 (n = 60) and (TA)7/(TA)7 (n = 29). These groups of patients did not significantly differ in age, gender ratio and haemoglobin, foetal haemoglobin and reticulocyte levels. On the other hand, total bilirubin levels were significantly different between groups, with an increased (TA) repeat number being associated with higher bilirubinaemia. Furthermore, both cholelithiasis and cholecystectomy were more frequent in groups with higher (TA) repeat number, although the former association was not statistically significant. None of the mentioned parameters is statistically different within UGT1A1 groups with the presence of alpha thalassaemia. Thus, the UGT1A1 promoter polymorphism may represent an important nonglobin genetic modifier of Bantu SCD patients' clinical manifestations, even at a young age