Assuntos
Maus-Tratos Infantis , Pessoa Solteira , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Ilegitimidade , Relações Pais-FilhoAssuntos
Maus-Tratos Infantis , Austrália , Criança , Maus-Tratos Infantis/prevenção & controle , HumanosRESUMO
We describe here the first case of classical homozygous beta-thalassaemia in a part-Aboriginal child. The child came from Bourke, New South Wales, and is the product of a consanguineous mating. His great-great-grandfather was a camel driver from Sri Lanka who settled in western New South Wales. From the family studies, we have found that there are now 17 carriers of beta-thalassaemia in the Aboriginal community in northwestern New South Wales, and it is anticipated that more part-Aboriginal children with thalassaemia major will be identified. The presence of numerous carriers of beta-thalassaemia in the Aboriginal population would suggest that care should be taken in the administration of iron for the treatment of anaemias found in Aboriginal children.
Assuntos
Talassemia/genética , Transfusão de Sangue , Homozigoto , Humanos , Recém-Nascido , Doenças do Recém-Nascido/sangue , Doenças do Recém-Nascido/diagnóstico , Ferro/uso terapêutico , Deficiências de Ferro , Masculino , Havaiano Nativo ou Outro Ilhéu do Pacífico , Linhagem , Talassemia/sangue , Talassemia/terapiaRESUMO
The urine of a child who presented with an episode of a disease resembling Reye's syndrome was found to contain large quantities of the dicarboxylic acids adipic and suberic acids, as well as the glycine conjugate of suberic acid, suberyl glycine. A variety of other dicarboxylic acids, both saturated and unsaturated, were also found in the urine at the time of the attack. It was found that the excretion of these unusual metabolites could be markedly increased by fasting for periods of greater than 10 h. These results indicate that the patient may have a defect in fatty acid oxidation which becomes clinically significant during periods of prolonged fasting.
