Istituto Toscano Tumori and Department of Haematology, University of Florence, Firenze, Italy.
Br J Haematol. 2014 Feb;164(4):469-80. doi: 10.1111/bjh.12665. Epub 2013 Dec 28.
That primaquine and other drugs can trigger acute haemolytic anaemia in subjects who have an inherited mutation of the glucose 6-phosphate dehydrogenase (G6PD) gene has been known for over half a century: however, these events still occur, because when giving the drug either the G6PD status of a person is not known, or the risk of this potentially life-threatening complication is under-estimated. Here we review briefly the genetic basis of G6PD deficiency, and then the pathophysiology and the clinical features of drug-induced haemolysis; we also update the list of potentially haemolytic drugs (which includes rasburicase). It is now clear that it is not good practice to give one of these drugs before testing a person for his/her G6PD status, especially in populations in whom G6PD deficiency is common. We discuss therefore how G6PD testing can be done reconciling safety with cost; this is once again becoming of public health importance, as more countries are moving along the pathway of malaria elimination, that might require mass administration of primaquine. Finally, we sketch the triangular relationship between malaria, antimalarials such as primaquine, and G6PD deficiency: which is to some extent protective against malaria, but also a genetically determined hazard when taking primaquine.
半个多世纪以来，人们已经知道，伯氨喹和其他药物会在葡萄糖-6-磷酸脱氢酶（G6PD）基因突变的个体中引发急性溶血性贫血：然而，这些事件仍在发生，因为在给予药物时，人们的 G6PD 状况未知，或者对这种潜在危及生命的并发症的风险估计不足。在这里，我们简要回顾一下 G6PD 缺乏症的遗传基础，然后讨论药物诱导溶血性贫血的病理生理学和临床特征；我们还更新了潜在溶血性药物的清单（其中包括拉布立酶）。现在很明显，在对个体进行 G6PD 检测之前，不应给他们使用这些药物中的一种，特别是在 G6PD 缺乏症常见的人群中。因此，我们讨论了如何在确保安全的同时兼顾成本进行 G6PD 检测；随着越来越多的国家开始走上消除疟疾的道路，这再次成为公共卫生的重要问题，因为这可能需要大规模使用伯氨喹。最后，我们勾勒出疟疾、伯氨喹等抗疟药物和 G6PD 缺乏症之间的三角关系：这种关系在一定程度上对疟疾具有保护作用，但在服用伯氨喹时，也是一种由遗传决定的危险。
