老挝 6-23 月龄携血红蛋白 E 疾病患儿的血红蛋白 F、A 和 E 水平：年龄、性别和地贫类型的影响
Hemoglobins F, A , and E levels in Laotian children aged 6-23 months with Hb E disorders: Effect of age, sex, and thalassemia types.
机构信息
Graduate School, Khon Kaen University, Khon Kaen, Thailand.
Center for Research and Development of Medical Diagnostic Laboratories (CMDL), Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand.
出版信息
Int J Lab Hematol. 2020 Jun;42(3):277-283. doi: 10.1111/ijlh.13164. Epub 2020 Feb 12.
INTRODUCTION
Determination of hemoglobins (Hbs) F, A and E is crucial for diagnosis of thalassemia. This study determined the levels of Hbs F, A and E in children aged 6-23 months and investigated the effect of age, sex, and types of thalassemia on the expression of these Hbs.
METHODS
A total of 698 blood samples of Laotian children including 272 non-Hb E, 271 Hb E heterozygotes, and 155 Hb E homozygotes were collected. Hb profiles were determined using the capillary zone electrophoresis. Coinheritance of α-thalassemia and the homozygosity for Hb E mutation were checked by PCR-based assay.
RESULTS
Children heterozygous and homozygous for Hb E had significantly higher Hb F and A levels than non-Hb E children (median Hb F = 1.1% for non-Hb E group, 2.7% for Hb E heterozygotes, and 9.4% for Hb E homozygotes; median Hb A = 2.6% for non-Hb E group, 3.8% for Hb E heterozygotes, and 5.2% for Hb E homozygotes). The median Hb E levels were 21.9% for Hb E heterozygotes and 85.3% for Hb E homozygotes. Comparing within group, there was a statistically significant difference between children with and without an α-gene defect for Hb A and E, but not Hb F. Based on a multiple regression analysis, age and sex were significantly associated with the expression of Hb F and A but not Hb E.
CONCLUSIONS
Our findings can guide the development of a diagnostic approach to thalassemia in children aged 6-23 months.
简介
确定血红蛋白（Hb）F、A 和 E 的水平对于地中海贫血的诊断至关重要。本研究测定了 6-23 个月大的儿童的 Hb F、A 和 E 水平，并探讨了年龄、性别和地中海贫血类型对这些 Hb 表达的影响。
方法
共采集 698 份老挝儿童血样，包括 272 名非 Hb E、271 名 Hb E 杂合子和 155 名 Hb E 纯合子。采用毛细管区带电泳法测定 Hb 谱。采用基于 PCR 的方法检测α-地中海贫血的共遗传和 Hb E 突变的纯合子。
结果
Hb E 杂合子和纯合子儿童的 Hb F 和 A 水平明显高于非 Hb E 儿童（非 Hb E 组的 Hb F 中位数为 1.1%，Hb E 杂合子为 2.7%，Hb E 纯合子为 9.4%；非 Hb E 组的 Hb A 中位数为 2.6%，Hb E 杂合子为 3.8%，Hb E 纯合子为 5.2%）。Hb E 杂合子的 Hb E 中位数为 21.9%，Hb E 纯合子为 85.3%。组内比较，Hb A 和 E，但不是 Hb F，在有和无α-基因缺陷的儿童之间有统计学差异。基于多元回归分析，年龄和性别与 Hb F 和 A 的表达显著相关，但与 Hb E 无关。
结论
我们的发现可以指导 6-23 个月大儿童地中海贫血的诊断方法的制定。
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