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.
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.
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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