MALDI-TOF-MS for Rapid Screening and Typing of β-Globin Variant and β-Thalassemia through Direct Measurements of Intact Globin Chains.

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Abstract

Traditional phenotype-based screening for β-globin variant and β-thalassemia using hematological parameters is time-consuming with low-resolution detection. Development of a MALDI-TOF-MS assay using alternative markers is needed.

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Author and article information

Journal

Journal ID (iso-abbrev): Clin Chem

Title: Clinical chemistry

Publisher: Oxford University Press (OUP)

ISSN (Electronic): 1530-8561

ISSN (Print): 0009-9147

Publication date (Electronic): Dec 06 2022

Volume: 68

Issue: 12

Affiliations

[1 ] Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China.

[2 ] Innovative Research Center for Diagnosis and Therapy of Thalassemias, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, China.

[3 ] Department of Clinical Laboratory, Zhuhai Women and Children's Hospital, Zhuhai, Guangdong, China.

[4 ] Research and Development Center, Intelligene Biosystems (Qingdao) Co., Ltd., Qingdao, Shandong, China.

[5 ] Department of Medical Genetics, Liuzhou Key Laboratory of Reproductive Medicine, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou, Guangxi, China.

[6 ] Department of Transfusion, Dongguan Maternal and Child Health Care Hospital, Dongguan, Guangdong, China.

[7 ] Department of Clinical Laboratory, Huidong Women and Children's Hospital, Huizhou, Guangdong, China.

[8 ] Department of Medical Genetics and Prenatal Diagnosis, Huizhou First Maternal and Child Health Care Hospital, Huizhou, Guangdong, China.

[9 ] Key Laboratory of Interdisciplinary Research, Institute of Biophysics of Chinese Academy of Sciences, Beijing, China.

[10 ] Department of Biomedicine, Bioland Laboratory, Guangzhou, Guangdong, China.

[11 ] Center for Marriage and Childbirth, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou, Guangxi, China.

[12 ] Department of Prenatal Diagnosis, Dongguan Institute of Reproductive and Genetic Research, Dongguan Maternal and Child Health Care Hospital, Dongguan, Guangdong, China.

[13 ] Genetics Laboratory, Guangzhou Huayin Healthcare Group Co., Ltd., Guangzhou, Guangdong, China.

[14 ] Genetics Laboratory, Guangzhou Jiexu Gene Technology Co., Ltd., Guangzhou 510530, Guangdong, China.

[15 ] College of Life Sciences, University of Chinese Academy of Sciences, Beijing, China.

Article

Publisher Item ID: 6759856

DOI: 10.1093/clinchem/hvac151

PubMed ID: 36226750

SO-VID: 96650be9-2389-4919-b063-27cc7f6a2e37

History

Keywords: clinical investigation,MALDI–TOF,hemoglobin disorders,hemoglobin,genetics

Data availability:

Keywords: clinical investigation, MALDI–TOF, hemoglobin disorders, hemoglobin, genetics

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