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泰国北柳府塔克拉丹分区地中海贫血的患病率及血液学参数

Prevalence and hematological parameters of thalassemia in Tha Kradarn subdistrict Chachoengsao Province, Thailand.

作者信息

Nillakupt Kamolthip, Nathalang Oytip, Arnutti Pasra, Jindadamrongwech Sumalee, Boonsiri Tanit, Panichkul Suthee, Areekul Wirote

机构信息

Department of Biochemistry, Phramongkutklao College of Medicine, Bangkok, Thailand.

出版信息

J Med Assoc Thai. 2012 May;95 Suppl 5:S124-32.

Abstract

OBJECTIVE

To determine the prevalence, molecular characteristics and hematological study of thalassemia in Tha Kradarn Subdistrict Chachoengsao Province.

MATERIAL AND METHOD

The present study population consisted of266 participants from Moo 19 Baan Na-Ngam, Chachoengsao Province, Thailand. After blood collection, all samples were screened for thalassemia by initial screening with the OF and DCIP tests and additional testing by CBC, RBC indices, hemoglobin typing and determination of Hb A2 and Hb E. All common alpha-thalassemia mutations were determined using the PCR with allele specific primers and Gap PCR for common deletions.

RESULTS

The prevalence of alpha-thal 1, alpha-thal 2 and beta-thal were found as 2.72%, 11.26% and 0.97%, respectively. Regarding the abnormal hemoglobins, the prevalence of Hb E, Hb Constant Spring and Hb Pakse was 38.45%, 3.69% and 0.78%, respectively. MCV and MCH were significantly different between P-thalassemia as well as a-thal 1 carriers and normal subjects. In all alpha-thal 1 traits, it was found that the MCV and MCH were less than 75 fL and 25 pg, therefore, these parameters can be used for alpha-thal 1 screening.

CONCLUSION

In the present study, the prevalence of thalassemia was similar to previous studies. Moreover, using the combination of OF and DCIP tests compared with MCV, MCH and DCIP tests for the initial thalassemia screening, it was found that the OF and DCIP tests gave more false positive results, which increased the need for further Hb typing. Hence, the MCV and MCH combined with DCIP tests provide cost minimization and practical for a large population-based screening program.

摘要

目的

确定差春骚府他拉丹分区地中海贫血的患病率、分子特征及血液学研究情况。

材料与方法

本研究的人群包括来自泰国差春骚府那甘村19组的266名参与者。采血后,所有样本先通过OF和DCIP试验进行初步筛查,再通过全血细胞计数、红细胞指数、血红蛋白分型以及Hb A2和Hb E的测定进行进一步检测。使用等位基因特异性引物的聚合酶链反应(PCR)和缺口PCR检测常见的α地中海贫血突变。

结果

发现α地中海贫血1型、α地中海贫血2型和β地中海贫血的患病率分别为2.72%、11.26%和0.97%。关于异常血红蛋白,Hb E、Hb恒河猴和Hb巴色的患病率分别为38.45%、3.69%和0.78%。β地中海贫血以及α地中海贫血1型携带者与正常受试者之间的平均红细胞体积(MCV)和平均红细胞血红蛋白含量(MCH)存在显著差异。在所有α地中海贫血1型特征中,发现MCV和MCH小于75 fL和25 pg,因此,这些参数可用于α地中海贫血1型筛查。

结论

在本研究中,地中海贫血的患病率与先前研究相似。此外,将OF和DCIP试验相结合与MCV、MCH和DCIP试验用于地中海贫血初步筛查相比,发现OF和DCIP试验产生的假阳性结果更多,这增加了进一步进行血红蛋白分型的必要性。因此,MCV和MCH与DCIP试验相结合可将成本降至最低,适用于大规模人群筛查项目。

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