葡萄糖-6-磷酸脱氢酶缺乏症与地中海贫血基因在表型水平上的相互作用。

Interaction between the glucose-6-phosphate dehydrogenase deficiency and thalassaemia genes at phenotype level.

作者信息

Sanna G, Frau F, Melis M A, Galanello R, De Virgiliis S, Cao A

出版信息

Br J Haematol. 1980 Apr;44(4):555-61. doi: 10.1111/j.1365-2141.1980.tb08709.x.

DOI:10.1111/j.1365-2141.1980.tb08709.x

Abstract

No significant differences were observed in the mean values of Hb A2 levels and red cell indices between G6PD- and G6PD+ beta thalassaemia carriers apart from the MCV, which was significantly higher in beta thalassaemia G6PD- subjects, but still in the thalassaemia carrier range. No difference was seen between G6PD+ and G6PD- alpha thalassaemia carriers. G6PD+ beta thalassaemia carriers show a significant increase in G6PD levels expressed as activity per g of Hb and to lesser extent as activity per number of red cells x 10(9); in G6PD+ alpha thalassaemia carriers this increase is statistically significant only when the enzyme levels are expressed as activity per g of Hb. G6PD- beta thalassaemia carriers had enzyme levels higher than non-thalassaemic G6PD- subjects only when the activity is expressed per g of Hb. G6PD activity was found to be increased in G6PD+ and G6PD- Hb H disease patients.

摘要

除平均红细胞体积（MCV）外，G6PD - 和G6PD + β地中海贫血携带者之间的Hb A2水平均值和红细胞指数无显著差异，G6PD - 的β地中海贫血患者的MCV显著更高，但仍处于地中海贫血携带者范围内。G6PD + 和G6PD - α地中海贫血携带者之间未观察到差异。G6PD + β地中海贫血携带者的G6PD水平显著升高，以每克Hb的活性表示，以每10⁹个红细胞的活性表示时升高程度较小；在G6PD + α地中海贫血携带者中，仅当酶水平以每克Hb的活性表示时，这种升高才具有统计学意义。仅当以每克Hb的活性表示时，G6PD - β地中海贫血携带者的酶水平才高于非地中海贫血的G6PD - 受试者。发现G6PD + 和G6PD - Hb H病患者的G6PD活性增加。