Thein S L, Weatherall D J
Department of Clinical Medicine, John Radcliffe Hospital, Headington, Oxford, England.
Prog Clin Biol Res. 1989;316B:97-111.
We describe an Asian Indian family with a non-deletion form of hereditary persistence of fetal hemoglobin (HPFH) and beta zero thalassemia. The propositus who has homozygous beta zero thalassemia has an unusually mild form of the disease which is ascribed to the co-inheritance of HPFH. The interaction of HPFH and beta thalassemia was studied in five generations of this family. Linkage analysis showed that the genetic determinant for the HPFH segregates independently from the gamma delta beta globin gene complex. Analysis of HPFH linkage to a panel of genetic markers in such a large family offers the possibility of defining a transacting locus (or loci) involved in the expression of the gamma globin gene.
我们描述了一个患有非缺失型胎儿血红蛋白遗传性持续存在（HPFH）和β0地中海贫血的亚洲印度家庭。先证者患有纯合子β0地中海贫血，其病情异常轻微，这归因于HPFH的共同遗传。在这个家族的五代人中研究了HPFH与β地中海贫血的相互作用。连锁分析表明，HPFH的遗传决定因素与γδβ珠蛋白基因复合体独立分离。在如此大的一个家族中分析HPFH与一组遗传标记的连锁关系，为确定参与γ珠蛋白基因表达的反式作用位点（或多个位点）提供了可能性。
