Service de Pédiatrie, AP-HP, Hôpital Louis-Mourier, 178 rue des Renouillers, Colombes, 92700, France.
INSERM, U763, Hôpital Robert-Debré, Paris, 75019, France.
Int J Hematol. 2011 May;93(5):664-666. doi: 10.1007/s12185-011-0827-6. Epub 2011 Apr 12.
We report the occurrence of symptomatic methemoglobinemia in a previously healthy boy, who presented with severe acute hemolysis after fava bean ingestion. The methemoglobinemia revealed a previously unrecognized glucose-6-phosphate dehydrogenase (G6PD) deficiency. We discuss the pathophysiology of severe methemoglobinemia when associated with acute hemolysis, favism, and the common African G6PD A-variant [G6PD, VAL68MET, ASN126ASP]. In conclusion, screening for G6PD deficiency must be considered in symptomatic methemoglobinemia, especially in young boys, when associated with intravascular hemolysis.
我们报告了一例先前健康的男孩在食用豇豆后出现症状性高铁血红蛋白血症的病例,该男孩发生严重急性溶血性贫血。高铁血红蛋白血症揭示了一种先前未被认识的葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症。我们讨论了严重高铁血红蛋白血症与急性溶血性贫血、蚕豆病和常见的非洲 G6PD A-变体[G6PD、VAL68MET、ASN126ASP]相关时的病理生理学。总之,当伴有血管内溶血时,必须考虑在症状性高铁血红蛋白血症中进行 G6PD 缺乏症筛查,尤其是在年轻男孩中。