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脐血在使用毛细管电泳的血红蛋白E血红蛋白病筛查项目中的潜在用途。

Potential use of cord blood for Hb E hemoglobinopathy screening programme using capillary electrophoresis.

作者信息

Wan Mohd Saman W A, Hassan R, Mohd Yusoff S, Che Yaakob C A, Abdullah N A F, Ghazali S, Mohd Radzi M A R, Bahar R

机构信息

Universiti Teknologi MARA (UiTM), Faculty of Medicine, Sg Buloh Campus, Malaysia.

出版信息

Malays J Pathol. 2016 Dec;38(3):235-239.

Abstract

BACKGROUND

Thalassemia and hemoglobinopathies are inherited red blood cell disorders found worldwide. Hemoglobin (Hb) E disorder is one of the hemoglobinopathies known to have the high prevalence in South East Asia. Most of transfusion-dependent thalassemias were genotypically compound heterozygous Hb E/ β-thalassemia. In Malaysia, the national screening program for thalassemia was implemented for early pregnancy or secondary school girls; however many participants do not turn-up and missed the screening test. Screening for thalassemia using samples from cord blood is an alternative choice as it is a readily available source of blood and hence early detection of the disease. The purpose of this study was to determine the potential use of cord blood for the screening of HbE hemoglobinopathy by using capillary electrophoresis (CE).

METHODS

Cord blood samples were collected from 300 newborns of healthy mothers. Hematological parameters were determined and hemoglobin quantitation for all cord blood samples were performed using capillary electrophoresis system (CES) and high performance liquid chromatography (HPLC).

RESULTS

Majority of cord blood samples (63%) revealed Hb AF followed by Hb AFA2 (20%). Hb AFE was detected in 10.7% with the mean value of Hb E ranging from 2.3%-11.1%.

CONCLUSION

Hemoglobin E was detected in cord blood using capillary electrophoresis system. It can be recommended in areas where Hb E/β is prevalent. Implementation of a screening strategy using CE on cord blood sampling will identify the disease early. With regular follow-up on these patients, the status of their disease can be determined earlier and appropriate management implemented.

摘要

背景

地中海贫血和血红蛋白病是全球范围内发现的遗传性红细胞疾病。血红蛋白E病是已知在东南亚高发的血红蛋白病之一。大多数依赖输血的地中海贫血在基因型上是复合杂合子血红蛋白E/β地中海贫血。在马来西亚,针对地中海贫血的国家筛查项目是针对早孕妇女或中学女生实施的;然而,许多参与者未到场,错过了筛查测试。使用脐血样本进行地中海贫血筛查是一种替代选择,因为脐血是一种容易获得的血液来源,因此可以早期发现该疾病。本研究的目的是通过毛细管电泳(CE)确定脐血在地中海贫血筛查中的潜在用途。

方法

从300名健康母亲的新生儿中采集脐血样本。测定血液学参数,并使用毛细管电泳系统(CES)和高效液相色谱(HPLC)对所有脐血样本进行血红蛋白定量。

结果

大多数脐血样本(63%)显示为血红蛋白AF,其次是血红蛋白AFA2(20%)。检测到血红蛋白AFE的样本占10.7%,血红蛋白E的平均值在2.3%-11.1%之间。

结论

使用毛细管电泳系统在脐血中检测到了血红蛋白E。在血红蛋白E/β地中海贫血流行的地区可以推荐使用。对脐血样本实施使用CE的筛查策略将能早期发现该疾病。对这些患者进行定期随访,可以更早地确定他们的疾病状况并实施适当的管理。

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