Association of G6PD with lower haemoglobin concentration but not increased haemolysis in patients with sickle cell anaemia.
Association of G6PD with lower haemoglobin concentration but not increased haemolysis in patients with sickle cell anaemia.
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DOI：
10.1111/j.1365-2141.2010.08215.x
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发表时间：
2010-07
影响因子：
6.5
通讯作者：
Gordeuk VR
中科院分区：
文献类型：
--
作者：
Nouraie M;Reading NS;Campbell A;Minniti CP;Rana SR;Luchtman-Jones L;Kato GJ;Gladwin MT;Castro OL;Prchal JT;Gordeuk VR
Hb SS患者高度不同程度的贫血和溶血的遗传基础尚不完全清楚，但一些研究表明G6PD缺乏不是一个因素。采用分子遗传学方法对2 61例Hb SS患儿进行了G6PD2 0 2 A、G6PD376G等位基因与α-地中海贫血的多中心研究。G6PD202A，376G(G6PD A-)被定义为男性等位基因的半合子和女性的纯合子。在参与者中，41%的人接受了羟基碳酰胺治疗。G6PD202A376G的患病率男性为13.6%，女性为3.3%，总患病率为8.7%。G6PD202A376G与血红蛋白浓度降低10g/L相关(P=0.008)，但与乳酸脱氢酶、胆红素、天冬氨酸氨基转移酶、网织红细胞计数或来自这些标记物的溶血成分的增加无关(P&gT0.09)。在没有服用羟基尿素的一组儿童中也发现了类似的结果。相比之下，单个和双个α-珠蛋白缺失与血红蛋白浓度逐渐升高(趋势P=0.005)、溶血成分逐渐降低(P=0.007)以及剧烈疼痛发作次数增加(P<；0.001)相关。综上所述，G6PD202A376G可能通过除溶血增加外的其他机制与镰状细胞性贫血患者的血红蛋白浓度降低有关。
The genetic bases of the highly variable degrees of anaemia and haemolysis in persons with Hb SS are not fully known, but several studies have indicated that G6PD deficiency is not a factor. The G6PD202A and G6PD376G alleles and α-thalassaemia were determined by molecular genetic testing in 261 children and adolescents with Hb SS in a multicentre study. G6PD202A,376G (G6PD A-) was defined as hemizygosity for both alleles in males and homozygosity in females. Among the participants 41% were receiving hydroxycarbamide. The prevalence of G6PD202A,376G was 13.6% in males and 3.3% in females with an overall prevalence of 8.7%. G6PD202A,376G was associated with a 10 g/l decrease in haemoglobin concentration (P=0.008) but not with increased haemolysis as measured by lactate dehydrogenase, bilirubin, aspartate-aminotransferase, reticulocyte count or a haemolytic component derived from these markers (P>0.09). Similar results were found within a sub-group of children who were not receiving hydroxycarbamide. By comparison, single and double α-globin deletions were associated with progressively higher haemoglobin concentrations (P=0.005 for trend), progressively lower values for haemolytic component (P=0.007), and increased severe pain episodes (P<0.001). In conclusion, G6PD202A,376G may be associated with lower haemoglobin concentration in sickle cell anaemia by a mechanism other than increased haemolysis.
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DOI：
10.1038/ejhg.2009.8
发表时间：
2009-08
期刊：
European journal of human genetics : EJHG
影响因子：
--
作者：
通讯作者：
--
影响因子：
1.8
作者：
Mouélé, R;Pambou, O;Galactéros, F
通讯作者：
Galactéros, F
影响因子：
158.5
作者：
EMBURY, SH;DOZY, AM;MENTZER, WC
通讯作者：
MENTZER, WC
影响因子：
6.5
作者：
GIBBS, WN;WARDLE, J;SERJEANT, GR
通讯作者：
SERJEANT, GR
影响因子：
15.8
作者：
Guindo A;Fairhurst RM;Doumbo OK;Wellems TE;Diallo DA
通讯作者：
Diallo DA