Comparison of application of 4 screening models for thalassemia

doi:10.3969/j.issn.1673-8640.2021.02.010

Laboratory Medicine ›› 2021, Vol. 36 ›› Issue (2): 173-176.DOI: 10.3969/j.issn.1673-8640.2021.02.010

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Comparison of application of 4 screening models for thalassemia

ZHUANG Qianmei¹, LIU Xiaolong², HUANG Hailong³, WANG Yuanbai², ZHUANG Jianlong², XU Liangpu³, HONG Guolin⁴

1. Fujian Medical University,Fuzhou 350004,Fujian,China
2. Quanzhou Maternal and Child Health Hospital,Quanzhou 362000,Fujian,China
3. Fujian Provincial Maternity and Children's Hospital,Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect,Fuzhou 350001,Fujian,China
4. Department of Clinical Laboratory,the First Affiliated Hospital of Xiamen University,Xiamen 361000,Fujian,China

Received:2020-02-26 Online:2021-02-28 Published:2021-02-28
Contact: HONG Guolin

Abstract

Abstract:

Objective To evaluate the effects of 4 common screening models for thalassemia. Methods A total of 670 couples carrying thalassaemia gene and 568 couples without thalassaemia gene were enrolled in this study. The genetic diagnosis results for thalassemia were used as golden standard. Routine blood analysis and hemoglobin（Hb） electrophoresis analysis were performed. Results The positive predictive values of Mode 1,Mode 2,Mode 3 and Mode 4 were 7.39%,7.25%,7.86% and 6.76%;its negative predictive values were 94.66%,98.52%,93.90% and 96.84%;the specificities were 53.53%,17.24%,88.88% and 13.19%;the sensitivities were 55.13%,96.15%,14.10% and 93.59%;and the missed diagnosis rates were 44.87%,3.85%,85.90% and 6.41%,respectively. Mode 2 had the highest negative predictive value and the lowest rate of missed diagnosis. Conclusion Mode 2 is the optimal screening mode for thalassemia. It should be selected for thalassemia screening as much as possible.

Key words: Thalassemia, Screening mode, Genetic detection

CLC Number:

R556.6

ZHUANG Qianmei, LIU Xiaolong, HUANG Hailong, WANG Yuanbai, ZHUANG Jianlong, XU Liangpu, HONG Guolin. Comparison of application of 4 screening models for thalassemia[J]. Laboratory Medicine, 2021, 36(2): 173-176.

模式	阳性预测值	阴性预测值	特异性	敏感性	漏诊率
模式一	7.39（43/582）	94.66（621/656）	53.53（621/1 160）	55.13（43/78）	44.87（35/78）
模式二	7.25（75/1 035）	98.52（200/203）	17.24（200/1 160）	96.15（75/78）	3.85（3/78）
模式三	7.86（11/140）	93.90（1 031/1 098）	88.88（1 031/1 160）	14.10（11/78）	85.90（67/78）
模式四	6.76（73/1 080）	96.84（153/158）	13.19（153/1 160）	93.59（73/78）	6.41（5/78）

模式	阳性预测值	阴性预测值	特异性	敏感性	漏诊率
模式一	7.39（43/582）	94.66（621/656）	53.53（621/1 160）	55.13（43/78）	44.87（35/78）
模式二	7.25（75/1 035）	98.52（200/203）	17.24（200/1 160）	96.15（75/78）	3.85（3/78）
模式三	7.86（11/140）	93.90（1 031/1 098）	88.88（1 031/1 160）	14.10（11/78）	85.90（67/78）
模式四	6.76（73/1 080）	96.84（153/158）	13.19（153/1 160）	93.59（73/78）	6.41（5/78）

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Comparison of application of 4 screening models for thalassemia

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