Serum Soluble Transferrin Receptor Concentrations Are Elevated in Congolese Children with Glucose-6-Phosphate Dehydrogenase Variants, but Not Sickle Cell Variants or α-Thalassemia
Serum Soluble Transferrin Receptor Concentrations Are Elevated in Congolese Children with Glucose-6-Phosphate Dehydrogenase Variants, but Not Sickle Cell Variants or α-Thalassemia
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DOI：
10.3945/jn.117.252635
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发表时间：
2017-09-01
影响因子：
4.2
通讯作者：
Karakochuk, Crystal D.
中科院分区：
文献类型：
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作者：
Barker, Mikaela K.;Henderson, Amanda M.;Karakochuk, Crystal D.
背景：贫血在刚果儿童中很常见，遗传性血液疾病可能是一个促成因素。镰状细胞变体、X-联葡萄糖-6-磷酸脱氢酶（G6 PD）缺乏症和α-地中海贫血的存在以前已有报道。G6 PD A缺乏症的特点是共同遗传的G6 PD 376和202变种，是常见的在撒哈拉以南Africa.Objective：我们的目的是测量遗传性血液病和血红蛋白，铁蛋白，可溶性转铁蛋白受体（sTfR）浓度之间的关联在刚果children.Methods：静脉血收集了744名儿童6-59个月从2个省。我们测量了营养和炎症状态以及疟疾的生物标志物。焦磷酸测序用于检测镰状细胞变体。聚合酶链反应被用来检测G6 PD变异和α-地中海贫血deletions.Results：总体而言，11%的儿童有镰状细胞变异，19%的男孩是G6 PD A-半合子，12%和10%的女孩是G6 PD A-杂合子或纯合子，分别和12%的儿童有α-地中海贫血。多元线性回归模型（调整了年龄、省份、海拔、疟疾以及营养和炎症状态的生物标志物）显示，G6 PD A-半合子男孩和G6 PD 376纯合子女孩具有更高的sTfR浓度[几何平均值比（95%CI）：1.20（1.03，1.39）和1.25（1.02，1.53）]。血红蛋白和铁蛋白浓度没有独立相关的任何遗传性血液病genotype.Conclusions：我们发现，2 G6 PD变异基因型与升高的sTfR浓度，这限制了sTfR作为铁状态的生物标志物在这个人群中的准确性。
Background: Anemia is common in Congolese children, and inherited blood disorders may be a contributing cause. The presence of sickle cell variants, X-linked glucose-6-phosphate dehydrogenase (G6PD) deficiency and alpha-thalassemia, has been previously reported. G6PD A-deficiency is characterized by the co-inheritance of G6PD 376 and 202 variants and is common in sub-Saharan Africa.Objective: We aimed to measure the associations between inherited blood disorders and hemoglobin, ferritin, and soluble transferrin receptor (sTfR) concentrations in Congolese children.Methods: Venous blood was collected from 744 children aged 6-59 mo from 2 provinces. We measured biomarkers of nutritional and inflammation status and malaria. Pyrosequencing was used to detect sickle cell variants. Polymerase chain reaction was used to detect G6PD variants and a-thalassemia deletions.Results: Overall, 11% of children had a sickle cell variant, 19% of boys were G6PD A-hemizygotes, 12% and 10% of girls were G6PD A-hetero-or homozygotes, respectively, and 12% of children had a-thalassemia. Multivariable linear regression models (adjusted for age, province, altitude, malaria, and biomarkers of nutritional and inflammation status) showed that G6PD A-hemizygous boys and G6PD 376 homozygous girls had higher sTfR concentrations [geometric mean ratios (95% CIs): 1.20 (1.03, 1.39) and 1.25 (1.02, 1.53), respectively] than children with no G6PD variants. Hemoglobin and ferritin concentrations were not independently associated with any of the inherited blood disorder genotypes.Conclusions: We found that 2 G6PD variant genotypes were associated with elevated sTfR concentrations, which limits the accuracy of sTfR as a biomarker of iron status in this population.