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镰状细胞性状/胎儿血红蛋白遗传性持续存在性状。新生儿筛查误诊为镰状细胞贫血。

Sickle cell trait/hereditary persistence of fetal hemoglobin trait. Misdiagnosis as sickle cell anemia by newborn screening.

作者信息

Rubin E M, Rowley P T

出版信息

Am J Dis Child. 1979 Dec;133(12):1248-50. doi: 10.1001/archpedi.1979.02130120040007.

Abstract

A black female infant, reported as a result of mandatory newborn screening to have sickle cell anemia, was found at 8 months of age to have instead the entirely benign disorder sickle cell trait/hereditary persistence of fetal hemoglobin trait. The finding of hemoglobin S without Hb A does not suffice for the diagnosis of homozygous Hb S. Screening programs that diagnose sickle cell aneimia without first demonstrating sickle hemoglobin in both parents will consistently misdiagnose several more benign hemoglobin states as sickle cell anemia.

摘要

一名黑人女婴,经强制新生儿筛查报告患有镰状细胞贫血,然而在8个月大时被发现患的是完全良性的镰状细胞性状/胎儿血红蛋白遗传性持续存在性状。仅发现血红蛋白S而没有Hb A不足以诊断为纯合子Hb S。在未首先证实父母双方均存在镰状血红蛋白的情况下就诊断镰状细胞贫血的筛查项目,会持续将几种更良性的血红蛋白状态误诊为镰状细胞贫血。

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