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关于新生儿期诊断血红蛋白S-胎儿血红蛋白遗传性持续存在的呼吁。

A Plea for the Newborn Diagnosis of Hb S-Hereditary Persistence of Fetal Hemoglobin.

作者信息

Serjeant Graham R, Serjeant Beryl E, Hambleton Ian R, Oakley Matthew, Thein Swee Lay, Clark Barnaby

机构信息

a Sickle Cell Trust (Jamaica) , Kingston , Jamaica.

b Caribbean Institute for Health Research-Chronic Disease Research Centre, University of the West Indies , Barbados , West Indies.

出版信息

Hemoglobin. 2017 May;41(3):216-217. doi: 10.1080/03630269.2017.1360336. Epub 2017 Sep 5.

DOI:10.1080/03630269.2017.1360336
PMID:28870138
Abstract

The gene for hereditary persistence of fetal hemoglobin (HPFH) in the Caribbean is much more common than previously estimated. To avoid labeling persons with the benign syndrome Hb S (HBB: c.20A>T)/HPFH as a disease and wasting scarce resources, parental studies are recommended when newborn screening reveals a pattern consistent with an SS phenotype.

摘要

在加勒比地区,胎儿血红蛋白遗传性持续存在(HPFH)基因比之前估计的更为常见。为避免将患有良性综合征Hb S(HBB: c.20A>T)/HPFH的人误诊为患病并浪费稀缺资源,当新生儿筛查显示出与SS表型一致的模式时,建议进行亲代研究。

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