Zanella A, Rebulla P, Vullo C, Izzo C, Tedesco F, Sirchia G
Br J Haematol. 1978 Dec;40(4):551-62. doi: 10.1111/j.1365-2141.1978.tb05831.x.
Two new mutant Pks, electrophoretically identical but kinetically slightly different, are reported. These two clinically innocuous PK variants, encountered in two non-related subjects, have combined in their daughter to give a fully expressed haemolytic anaemia. The functional abnormalities of the daughter's PK (increased K0.5 PEP, abnormal response to FDP, increased urea and guanidine-HCl stability, abnormal isoelectrofocusing and electrophoretic patterns) were like those of the parents but more pronounced, except for thermostability that was normal in the proband although markedly decreased in both parents. The family examined demonstrates that there is no relationship between in vitro properties of the variant and the severity of haemolysis. The hypothesis is put forward that the cause of haemolysis in PK deficiency may be associated with another defect located in the red cell membrane.
据报道，发现了两种新的突变丙酮酸激酶，它们在电泳上相同，但动力学性质略有不同。这两种在临床上无害的丙酮酸激酶变体分别出现在两个无亲缘关系的个体中，而他们的女儿同时遗传了这两种变体，从而患上了完全显性的溶血性贫血。女儿的丙酮酸激酶功能异常（磷酸烯醇丙酮酸的半饱和常数增加、对果糖二磷酸的反应异常、对尿素和盐酸胍的稳定性增加、等电聚焦和电泳图谱异常）与父母相似，但更为明显，不过先证者的热稳定性正常，而其父母的热稳定性则显著降低。所研究的这个家族表明，变体的体外性质与溶血严重程度之间并无关联。有人提出假说，丙酮酸激酶缺乏症中溶血的原因可能与红细胞膜上的另一种缺陷有关。
