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东南亚常见类型地中海贫血杂合子血清转铁蛋白受体水平升高:与基因型和红细胞指数的相关性

Elevated serum transferrin receptor levels in common types of thalassemia heterozygotes in Southeast Asia: a correlation with genotypes and red cell indices.

作者信息

Uaprasert Noppacharn, Rojnuckarin Ponlapat, Bhokaisawan Narudee, Settapiboon Rung, Wacharaprechanont Teera, Amornsiriwat Siriporn, Sutcharitchan Pranee

机构信息

Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.

出版信息

Clin Chim Acta. 2009 May;403(1-2):110-3. doi: 10.1016/j.cca.2009.01.031. Epub 2009 Feb 6.

Abstract

BACKGROUND

Serum transferrin receptor (sTfR) measurement is a helpful test for diagnosis of iron deficiency. Increased values are detectable in thalassemia syndromes due to increased erythropoiesis. However, sTfR has never been studied in hemoglobin E (HbE) carriers and their interactions with alpha-thalassemia heterozygotes that are common in Southeast Asia.

METHODS

We determined sTfR concentrations using a particle enhanced immunoturbidimetric assay in 113 early pregnancies without iron deficiency.

RESULTS

Patients were genotypically classified into 6 groups: 23 normal (mean sTfR+/-SD mg/l, 0.94+/-0.22), 14 alpha(+)-thalassemia heterozygotes (1.06+/-0.45), 21 alpha(0)-thalassemia heterozygotes (1.31+/-0.35), 30 HbE heterozygotes (1.11+/-0.26), 13 HbE heterozygotes with alpha(+)-thalassemia heterozygotes (1.09+/-0.32), and 12 HbE heterozygotes with alpha(0)-thalassemia heterozygotes (1.16+/-0.27). sTfR concentrations in all thalassemic groups were higher than controls, and significantly correlated with high red cell count, low MCV and MCH (p<0.001). When alpha(0)- or alpha(+)-thalassemia combined with HbE, sTfR concentrations were declined compared with alpha(0)-thalassemia or hemoglobin E, respectively, suggesting more balances in alpha- and beta-globin chain production.

CONCLUSIONS

Mildly increased erythropoiesis represented by increased sTfR concentrations in alpha-thalassemia and HbE heterozygotes and illustrated alpha- and beta-thalassemic gene interaction. These findings warrant further investigations on sTfR in diagnosis of iron deficiency in thalassemia carriers.

摘要

背景

血清转铁蛋白受体(sTfR)检测对缺铁性贫血的诊断有一定帮助。由于红细胞生成增加,地中海贫血综合征患者的sTfR值会升高。然而,此前从未对血红蛋白E(HbE)携带者及其与东南亚地区常见的α地中海贫血杂合子之间的相互作用进行过研究。

方法

我们采用颗粒增强免疫比浊法测定了113例无缺铁情况的早孕患者的sTfR浓度。

结果

患者按基因型分为6组:23例正常者(平均sTfR±标准差mg/l,0.94±0.22),14例α(+)地中海贫血杂合子(1.06±0.45),21例α(0)地中海贫血杂合子(1.31±0.35),30例HbE杂合子(1.11±0.26),13例HbE杂合子合并α(+)地中海贫血杂合子(1.09±0.32),12例HbE杂合子合并α(0)地中海贫血杂合子(1.16±0.27)。所有地中海贫血组的sTfR浓度均高于对照组,且与高红细胞计数、低平均红细胞体积(MCV)和平均红细胞血红蛋白含量(MCH)显著相关(p<0.001)。当α(0)或α(+)地中海贫血与HbE合并时,sTfR浓度分别比单独的α(0)地中海贫血或血红蛋白E降低,提示α和β珠蛋白链的产生更加平衡。

结论

α地中海贫血和HbE杂合子中sTfR浓度升高代表红细胞生成轻度增加,显示了α和β地中海贫血基因的相互作用。这些发现为进一步研究sTfR在诊断地中海贫血携带者缺铁情况中的应用提供了依据。

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