A carregar...
Publicação
Red cell abnormalities in a kindred with an uncommon form of hereditary spherocytosis
| Nome: | Descrição: | Tamanho: | Formato: | |
|---|---|---|---|---|
| 346.22 KB | Adobe PDF |
Orientador(es)
Resumo(s)
Red 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.
Descrição
Copyright © Ordem dos Médicos
Palavras-chave
Contexto Educativo
Citação
Acta Medica Portuguesa 1985; 6: 137-141