1980年我院在四川简阳地区发现一例婴儿原发性高脂血症并发重型地中海贫血,并对其及双亲做了一系列有关检查,现报告如下。患儿,女性,7个月,面苍白4月,左上腹包块3月余,伴纳差,易烦躁、哭闹。祖籍四川人,母生5胎,其中第2、3胎均因有同样症状死亡,大姐、四哥健在,患儿为第5胎。查体:体重4.6kg,身高57cm,发育营养极差,皮肤脂肪少,弹性差, In 1980, our hospital found a case of primary hyperlipidemia and heavy thalassemia in Jianyang, Sichuan Province, and conducted a series of related tests on it and its parents. The report is as follows. Children, women, 7 months, pale face April, left upper quadrant more than 3 months, with anorexia, irritability, crying. Ancestral home in Sichuan, 5 births, of which 2, 3 tires are due to the same symptoms of death, big sister, brother alive, children for the first 5 tires. Physical examination: weight 4.6kg, height 57cm, very poor nutritional development, less skin fat, poor flexibility,