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在一家三级医疗中心的产前诊所就诊的女性中筛查β地中海贫血携带者状态,并制定预防β地中海贫血的示范项目。

Screening for Beta Thalassemia Carrier State Among Women Attending Antenatal Clinic in a Tertiary Care Centre and Framing a Model Program for the Prevention of Beta Thalassemia.

作者信息

Suman Febe Renjitha, Teja Ravi, Magdalene Jesu, Bisht Tejaswita, Varadharajan Suresh, Lakshmi Uma, Balasubramanian Jayalakshmi

机构信息

Pathology and Laboratory Medicine, Sri Ramachandra Institute of Higher Education and Research, Chennai, IND.

Pathology, Sri Ramachandra Institute of Higher Education and Research, Chennai, IND.

出版信息

Cureus. 2022 Feb 14;14(2):e22209. doi: 10.7759/cureus.22209. eCollection 2022 Feb.

DOI:10.7759/cureus.22209
PMID:35308710
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8926295/
Abstract

Aim This study was carried out to detect beta (β) thalassemia heterozygous state in antenatal women and to create a validated flag in the software utilizing the screening indices to filter the samples to be subjected to high-performance liquid chromatography (HPLC) and to define a model for the prevention of thalassemia. Methods This cross-sectional study was carried out for a period of two years on women attending the antenatal clinic. Complete blood count (CBC) and peripheral smear were done during their first visit. Serum iron and total iron-binding capacity were done for women who had microcytic hypochromic anemia. The samples of women without iron deficiency were processed by HPLC for hemoglobinopathies. The spouses of women who were found to have beta thalassemia trait were counseled to undergo screening, and those who consented were tested. Results A total of 183 antenatal women were screened for hemoglobinopathies. Βeta thalassemia trait was detected in 23.5% of them. Among the 16 red blood cell (RBC) indices analyzed, Sehgal index and Mentzer index, both with sensitivities of 97.67%, were found to be suitable. Alert flag incorporated in the software of the analyzer to detect these indices helps not to miss samples to carry out HPLC. The spouses of women with β thalassemia trait who underwent HPLC testing were 55.81%. A model screening program was designed. Conclusion Antenatal testing by HPLC should be done on all mothers having microcytic hypochromic anemia without iron deficiency. Spouse testing of the woman who was carriers denotes the success of the antenatal screening program.

摘要

目的

本研究旨在检测产前女性中的β地中海贫血杂合状态,并在软件中创建一个经过验证的标记,利用筛查指标筛选出要进行高效液相色谱(HPLC)检测的样本,同时定义一个预防地中海贫血的模型。方法:对在产前诊所就诊的女性进行了为期两年的横断面研究。在她们首次就诊时进行全血细胞计数(CBC)和外周血涂片检查。对患有小细胞低色素性贫血的女性进行血清铁和总铁结合力检测。对无缺铁的女性样本进行HPLC检测以筛查血红蛋白病。对被发现有β地中海贫血特征的女性的配偶进行咨询并建议其接受筛查,同意者进行检测。结果:共对183名产前女性进行了血红蛋白病筛查。其中23.5%检测出β地中海贫血特征。在所分析的16项红细胞(RBC)指标中,发现Sehgal指数和Mentzer指数均适宜,二者灵敏度均为97.67%。分析仪软件中纳入的用于检测这些指标的警示标记有助于避免遗漏需进行HPLC检测的样本。接受HPLC检测的β地中海贫血特征女性的配偶占55.81%。设计了一个模型筛查方案。结论:应对所有无缺铁的小细胞低色素性贫血母亲进行HPLC产前检测。对携带者女性的配偶进行检测表明产前筛查方案取得成功。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f254/8926295/2b1dc3b5bb54/cureus-0014-00000022209-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f254/8926295/2ab2eb42541c/cureus-0014-00000022209-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f254/8926295/2b1dc3b5bb54/cureus-0014-00000022209-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f254/8926295/2ab2eb42541c/cureus-0014-00000022209-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f254/8926295/2b1dc3b5bb54/cureus-0014-00000022209-i02.jpg

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本文引用的文献

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Red cell indices and formulas used in differentiation of β-thalassemia trait from iron deficiency in Thai school children.泰国学龄儿童中用于区分β地中海贫血特征与缺铁性贫血的红细胞指数及公式。
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Cut off Determination of Discrimination Indices in Differential Diagnosis between Iron Deficiency Anemia and β- Thalassemia Minor.
缺铁性贫血与轻型β地中海贫血鉴别诊断中鉴别指数的截断值确定
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