Clements J E, Anderson B B, Perry G M
Biomedicine. 1981 Dec;34(3):119-23.
It was demonstrated in heterozygous alpha 1- and beta-thalassaemia, that the slow rate of red-cell metabolism of vitamin B6, previously shown to be inherited, is regulated by the FMN-dependent pyridoxine (pyridoxamine) phosphate oxidase, as in control subjects. In this study, 60% of the patients with thalassaemia had a low B6 oxidase activity. An inverse correlation with the stimulation of the FAD-dependent glutathione reductase activity by FAD confirmed that red-cell riboflavin status was responsible. The inherited nature and lack of signs of nutritional riboflavin deficiency led to the conclusion that this was the result of a slow rate of red-cell metabolism of riboflavin. Stimulation of glutathione reductase activity by FAD correlated inversely with its basic activity in thalassaemia and control subjects. There was a high incidence of a low activity of this enzyme per red cell in patients with thalassaemia. The possibility that a low activity of glutathione reductase and a slow metabolism of B6 and riboflavin in the red-cell might play a part in the degree of severity of the thalassaemic disease is discussed.
在杂合子α1-和β-地中海贫血中已证实，先前显示为遗传性的红细胞维生素B6代谢缓慢率，如同在对照受试者中一样，受黄素单核苷酸依赖的吡哆醇（吡哆胺）磷酸氧化酶调节。在本研究中，60%的地中海贫血患者具有低B6氧化酶活性。FAD对黄素腺嘌呤二核苷酸依赖的谷胱甘肽还原酶活性的刺激呈负相关，证实红细胞核黄素状态是原因所在。这种遗传性以及缺乏营养性核黄素缺乏的迹象得出这样的结论，即这是红细胞核黄素代谢缓慢率的结果。FAD对谷胱甘肽还原酶活性的刺激与地中海贫血患者和对照受试者中其基础活性呈负相关。地中海贫血患者中每个红细胞该酶低活性的发生率很高。本文讨论了红细胞中谷胱甘肽还原酶低活性以及B6和核黄素代谢缓慢可能在地中海贫血疾病严重程度中起作用的可能性。
