May J, Meyer C G, Grossterlinden L, Ademowo O G, Mockenhaupt F P, Olumese P E, Falusi A G, Luzzatto L, Bienzle U
Institute for Tropical Medicine, Medical Faculty Charité, Humboldt University Berlin, Berlin, Germany.
Trop Med Int Health. 2000 Feb;5(2):119-23. doi: 10.1046/j.1365-3156.2000.00529.x.
Glucose-6-phosphate dehydrogenase A- (G6PD A-) deficiency is a common enzymopathy in Africa that sporadically leads to manifest haemolytic anaemia. It is not exactly known how far the haematological status of individuals with either homozygous or heterozygous G6PD A- deficiency differs from that of individuals with normal G6PD activity. In a field study in Nigeria, we determined G6PD gene variants, the corresponding G6PD and pyruvate kinase (PK) activities, and basic haematological parameters in clinically healthy individuals, who were, in part, asymptomatically infected by malaria parasites. Red blood cell counts and haemoglobin levels were lower in G6PD A- deficient than in G6PD normal subjects. PK activities were higher in G6PD deficients, indicating a younger red cell population in these individuals. These findings suggest that G6PD A- deficiency is accompanied by chronic subclinical haemolysis. As a consequence, the reduced life span of red cells leads to an impaired diagnosis of G6PD heterozygosity when applying routine biochemical methods.
葡萄糖-6-磷酸脱氢酶A-(G6PD A-)缺乏症是非洲常见的一种酶病,偶尔会导致明显的溶血性贫血。目前尚不清楚纯合子或杂合子G6PD A-缺乏症患者的血液学状况与G6PD活性正常的个体有多大差异。在尼日利亚的一项实地研究中,我们测定了临床健康个体的G6PD基因变体、相应的G6PD和丙酮酸激酶(PK)活性以及基本血液学参数,这些个体部分无症状感染疟原虫。G6PD A-缺乏症患者的红细胞计数和血红蛋白水平低于G6PD正常受试者。G6PD缺乏者的PK活性较高,表明这些个体的红细胞群体较年轻。这些发现表明,G6PD A-缺乏症伴有慢性亚临床溶血。因此,红细胞寿命缩短导致在应用常规生化方法时对G6PD杂合性的诊断受损。