• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

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.

DOI:10.1001/archpedi.1979.02130120040007
PMID:517474
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。

相似文献

1
Sickle cell trait/hereditary persistence of fetal hemoglobin trait. Misdiagnosis as sickle cell anemia by newborn screening.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。
Am J Dis Child. 1979 Dec;133(12):1248-50. doi: 10.1001/archpedi.1979.02130120040007.
2
Rapid diagnosis of sickle cell disease at birth by microcolumn chromatography.通过微柱色谱法在出生时快速诊断镰状细胞病。
Pediatrics. 1975 May;55(5):630-5.
3
Clinical expression of sickle cell anemia in the newborn.
South Med J. 1983 Apr;76(4):477-80.
4
The diagnosis of sickle cell disease in the newborn infant.
J Pediatr. 1972 Feb;80(2):279-81. doi: 10.1016/s0022-3476(72)80591-2.
5
[Hereditary persistence of fetal Hb and its association with Hb S. 1st case found in Costa Rica].[胎儿血红蛋白的遗传性持续存在及其与血红蛋白S的关联。在哥斯达黎加发现的首例病例]
Sangre (Barc). 1989 Oct;34(5):371-4.
6
Newborn screening for sicle-cell disease. Benefits and burdens.
N Y State J Med. 1978 Jan;78(1):42-4.
7
Sickle cell trait and aviation.镰状细胞性状与航空飞行
Aviat Space Environ Med. 1982 Oct;53(10):1021-9.
8
Sickling syndromes in children.儿童镰状细胞综合征
Adv Pediatr. 1976;23:271-313.
9
Routine screening of umbilical cord blood for sickle cell diseases.对脐带血进行镰状细胞病的常规筛查。
JAMA. 1974 Jan 28;227(4):420-1.
10
An assessment of techniques suitable for the diagnosis of sickle-cell disease and haemoglobin C disease in cord blood samples.脐血样本中镰状细胞病和血红蛋白C病诊断适用技术的评估。
J Clin Pathol. 1970 Sep;23(6):533-7. doi: 10.1136/jcp.23.6.533.