在巴西一项开创性的新生儿群体筛查计划中，等电聚焦法检测血红蛋白S、血红蛋白C和血红蛋白D的可靠性。

Reliability of isoelectrofocusing for the detection of Hb S, Hb C, and HB D in a pioneering population-based program of newborn screening in Brazil.

作者信息

Paixão M C, Cunha Ferraz M H, Januário J N, Viana M B, Lima J M

机构信息

Núcleo de Pesquisa em Apoio Diagnóstico, Research Center for Newborn Screening, Federal University of Minas Gerais, Belo Horizonte, Brazil.

出版信息

Hemoglobin. 2001 Aug;25(3):297-303. doi: 10.1081/hem-100105222.

DOI:10.1081/hem-100105222

PMID:11570722

Abstract

Out of 128,326 newborns in the first 6-month period of a population-based screening program in Minas Gerais, Brazil, a second sample was obtained at the age of 6 months from 4,635 carriers of Hbs AS, AC, and AD which were detected by isoelectrofocusing. Discordance in results occurred in only 27 cases (0.6%): in seven there was a history of hemotransfusion; errors during pipetting or transcription of results occurred in seven cases; it was difficult to differenciate between Hbs S and D in eight patients; and the causes were not elucidated in five patients. The incidence of Hbs FS and FSC for the total population was 1:2,800 and 1:3,450, respectively. Isoelectrofocusing is a very reliable method for distinguishing AS, AC, or AD carriers from patients presenting with [corrected] variant hemoglobin and beta(+)-thalassemia combinations, and may be widely used in massive newborn screening programs.

摘要

在巴西米纳斯吉拉斯州一项基于人群的筛查项目的前6个月里，共有128,326名新生儿。从通过等电聚焦检测出的4635名Hbs AS、AC和AD携带者中，在6个月大时获取了第二个样本。结果不一致的情况仅发生在27例（0.6%）中：7例有输血史；7例在移液或结果记录过程中出现错误；8例患者难以区分Hbs S和D；5例患者的原因未阐明。该人群中Hbs FS和FSC的发病率分别为1:2800和1:3450。等电聚焦是一种非常可靠的方法，可用于区分AS、AC或AD携带者与呈现[校正后]变异血红蛋白和β(+)地中海贫血组合的患者，可广泛应用于大规模新生儿筛查项目。