Stevens R F, Evans D I
Clin Pediatr (Phila). 1981 Jan;20(1):47-9. doi: 10.1177/000992288102000106.
A retrospective study of 50 patients with hereditary spherocytosis (HS) from 41 families seen between 1967 and 1979 at the Royal Manchester Children's Hospital, and Booth Hall Children's Hospital, Manchester, England is described. Nineteen patients (38%) had no family history of spherocytosis and in 12 patients (24%), tests on the family showed no evidence of disease. Various modes of inheritance are discussed in the light of these results. The traditional name for the condition (hereditary spherocytosis) is considered unsuitable as it is clearly inaccurate in many cases. The name congenital spherocytosis would be more appropriate.
本文描述了一项回顾性研究,研究对象为1967年至1979年间在英国曼彻斯特皇家儿童医院和曼彻斯特布斯霍尔儿童医院就诊的41个家庭中的50例遗传性球形红细胞增多症(HS)患者。19例患者(38%)无球形红细胞增多症家族史,12例患者(24%)的家族检测未发现疾病证据。根据这些结果讨论了各种遗传方式。该疾病的传统名称(遗传性球形红细胞增多症)被认为不合适,因为在许多情况下它显然不准确。先天性球形红细胞增多症这个名称会更合适。