Vowels M R, Grunseit F, Webster B H, Berdoukas V A
Med J Aust. 1983 Aug 6;2(3):139-41. doi: 10.5694/j.1326-5377.1983.tb122365.x.
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.
我们在此描述了一名部分原住民儿童患经典型纯合子β地中海贫血的首例病例。该儿童来自新南威尔士州的伯克,是近亲通婚的产物。他的高曾祖父是一名来自斯里兰卡的骆驼车夫,定居在新南威尔士州西部。通过家族研究,我们发现新南威尔士州西北部的原住民社区目前有17名β地中海贫血携带者,预计将会发现更多患有重型地中海贫血的部分原住民儿童。原住民人口中存在众多β地中海贫血携带者,这表明在给原住民儿童治疗贫血时使用铁剂应谨慎。