Anderson B B, Perry G M, Clements J E, Studds C, Fashola R, Salsini G, Vullo C
Department of Haematology, St. Bartholomew's Hospital, London, U.K.
Eur J Haematol. 1989 Apr;42(4):354-60. doi: 10.1111/j.1600-0609.1989.tb01225.x.
In 18 beta-thalassaemia families from the Ferrara area the incidence of an inherited low flavin mononucleotide (FMN)-dependent pyridoxine phosphate (PNP) oxidase activity, a sensitive indicator of red-cell FMN deficiency, is higher in related members in these families than in the unrelated spouses and controls subjects without family history of thalassaemia. This suggests slower red-cell riboflavin metabolism in thalassaemia families, which may have resulted from selection in combination with thalassaemia by malaria. However, there was a markedly higher incidence of red-cell flavin adenine dinucleotide (FAD) deficiency in thalassaemia heterozygotes than in their normal relatives. This was indicated by higher stimulation of FAD-dependent glutathione reductase (GR) activity by FAD and lower GR activity per red cell, and suggests a marked additive effect by thalassaemia on the red cell FAD deficiency that results from the inherited slow riboflavin metabolism. There is evidence that diversion of FAD to other FAD-dependent enzymes might be an important factor.
在来自费拉拉地区的18个β地中海贫血家族中，遗传性低黄素单核苷酸（FMN）依赖性磷酸吡哆醛（PNP）氧化酶活性（红细胞FMN缺乏的敏感指标）在这些家族的相关成员中的发生率高于无地中海贫血家族史的非亲属配偶及对照受试者。这表明地中海贫血家族中红细胞核黄素代谢较慢，这可能是疟疾与地中海贫血共同选择的结果。然而，地中海贫血杂合子中红细胞黄素腺嘌呤二核苷酸（FAD）缺乏的发生率明显高于其正常亲属。这表现为FAD对FAD依赖性谷胱甘肽还原酶（GR）活性的刺激作用增强，且每个红细胞的GR活性降低，提示地中海贫血对因遗传性核黄素代谢缓慢导致的红细胞FAD缺乏有显著的累加效应。有证据表明，FAD转向其他FAD依赖性酶可能是一个重要因素。
