Whitelaw A G, Rogers P A, Hopkinson D A, Gordon H, Emerson P M, Darley J H, Reid C, Crawfurd M A
J Med Genet. 1979 Jun;16(3):189-96. doi: 10.1136/jmg.16.3.189.
Glucose phosphate isomerase (GPI) deficiency with severe haemolysis and hydrops fetalis was found in the first child of unrelated, healthy Caucasian parents. The child died at 3 hours. Both parents were found to have 50% of normal red cell GPI activity and qualitative tests on their red cells and white cells showed that each was heterozygous for a different GPI variant allele associated with enzyme deficiency. Tests on the placenta showed that the propositus was a 'compound' heterozygote. Examination of amniotic cells obtained by amniocentesis on the mother at 28 weeks in her second pregnancy led to the prenatal diagnosis of GPI deficiency. This second child, a 'compound' heterozygote at the GPI locus indistinguishable from the first, was successfully treated by immediate exchange transfusion and subsequent blood transfusions.
在一对无血缘关系、健康的白种人父母的第一个孩子身上，发现了伴有严重溶血和胎儿水肿的磷酸葡萄糖异构酶（GPI）缺乏症。这个孩子在3小时时死亡。父母双方的红细胞GPI活性均为正常的50%，对他们红细胞和白细胞的定性检测表明，他们各自是与酶缺乏相关的不同GPI变异等位基因的杂合子。对胎盘的检测表明，先证者是一个“复合”杂合子。在母亲第二次怀孕28周时，通过羊膜穿刺术获取羊水细胞进行检测，实现了GPI缺乏症的产前诊断。第二个孩子在GPI基因座上也是一个与第一个孩子无法区分的“复合”杂合子，通过立即进行换血输血及随后的输血治疗获得成功。
