MALDI--TOF--MS for Rapid Screening and Typing of β-Globin Variant and β-Thalassemia through Direct Measurements of Intact Globin Chains.
BACKGROUND: 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. METHODS: We constructed a MALDI--TOF--MS- based approach...
| Publicado en: | Clinical Chemistry Vol. 68; no. 12; pp. 1541 - 1552 |
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| Autores principales: | , , , , , , , , , , , , , , , , , , , |
| Formato: | Journal Article |
| Publicado: |
Oxford University Press / USA
Dec2022
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=160704208&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 160704208 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 00099147 10CS jtl: Clinical Chemistry issn: 00099147 maglogo: N pubinfo: dt: Dec2022 vid: 68 iid: 12 pid: 622 pub: Oxford University Press / USA artinfo: ui: 160704208 10.1093/clinchem/hvac151 160704208 ppf: 1541 ppct: 11 formats: fmt: @attributes: type: P tig: atl: MALDI--TOF--MS for Rapid Screening and Typing of β-Globin Variant and β-Thalassemia through Direct Measurements of Intact Globin Chains. aug: au: Qianqian Zhang Ge Wang Dehui Sun Wanying Lin Tizhen Yan Yuanjun Wu Meiying Wu Jianhong Chen Shaomin Zou Wenchun Xie Yuqiu Zhou Yuxi Wang Linlin He Yanhui Liu Zhenxiong Qiu Lingling Hu Bin Lin Xiaoguang Zhou Yan Li Xiangmin Xu affil: Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China sug: ab: BACKGROUND: 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. METHODS: We constructed a MALDI--TOF--MS- based approach for identifying various β-globin disorders and classifying thalassemia major (TM) and thalassemia intermedia (TI) patients using 901 training samples with known HBB/HBA genotypes. We then validated the accuracy of population screening and clinical classification in 2 separate cohorts consisting of 16 172 participants and 201 β-thalassemia patients. Traditional methods were used as controls. Genetic tests were considered the gold standard for testing positive specimens. RESULTS: We established a prediction model for identifying different forms of β-globin disorders in a single MALDI--TOF--MS test based on δ- to β-globin, γ- to α-globin, γ- to β-globin ratios, and/or the abnormal globin-chain patterns. Our validation study yielded pubtype: Academic Journal doctype: Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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