Anderson B B, Perry G M, Modell C B, Child J A, Mollin D L
Br J Haematol. 1979 Apr;41(4):497-507. doi: 10.1111/j.1365-2141.1979.tb05887.x.
Red-cell conversion of pyridoxine to pyridoxal phosphate was studied in control subjects, and patients with heterozygous and homozygous beta-thalassaemia. In 7% of control subjects the rate of pyridoxine conversion was well below the range found in the other control subjects (5.0-8.6%, mean 6.5%/g Hb x 10(-2)) but in heterozygous beta-thalassaemia was below that range in 63% of the patients. The conversion rate was also slow or borderline in the majority of patients with severe transfusion-dependent homozygous beta-thalassaemia, in spite of the presence of some donor cells; but was normal, or fast as in other anaemias, in all but one patient with mild homozygous thalassaemia. There was a much higher incidence of a slow conversion rate in the parents of the severe homozygotes than in parents of the mild homozygotes, illustrating the familial pattern. This supports our view that the red-cell conversion rate of pyridoxine is an inherited characteristic, independent of thalassaemia. The cause of a reduced rate of pyridoxine conversion was investigated. The increase to a normal rate following riboflavin ingestion suggests a defect in the activity of the flavin mononucleotide (FMN)-dependent pyridoxine phosphate oxidase.
在健康对照者以及杂合子和纯合子β地中海贫血患者中研究了红细胞将吡哆醇转化为磷酸吡哆醛的情况。在7%的健康对照者中，吡哆醇的转化率远低于其他对照者的范围（5.0 - 8.6%，平均6.5%/g血红蛋白×10⁻²），但在杂合子β地中海贫血患者中，63%的患者转化率低于该范围。尽管存在一些供体细胞，但大多数严重依赖输血的纯合子β地中海贫血患者的转化率也较慢或处于临界水平；但除一名轻度纯合子地中海贫血患者外，所有患者的转化率均正常或与其他贫血患者一样快。严重纯合子患者的父母中转化率缓慢的发生率远高于轻度纯合子患者的父母，说明了家族模式。这支持了我们的观点，即红细胞中吡哆醇的转化率是一种遗传特征，与地中海贫血无关。研究了吡哆醇转化率降低的原因。摄入核黄素后转化率恢复正常表明黄素单核苷酸（FMN）依赖性磷酸吡哆醛氧化酶的活性存在缺陷。
