一名血红蛋白H（β4）病患儿中血红蛋白恒春型（α2基因中第142位密码子由终止密码子TAA突变为谷氨酰胺密码子CAA）的误诊。

Misdiagnosis of Hb constant spring (alpha142, Term-->Gln, TAA-->CAA in alpha2) in a Hb H (beta4) disease child.

作者信息

Li Dongzhi, Liao Can, Li Jian

机构信息

Prenatal Diagnostic Center, Guangzhou Maternal & Neonatal Hospital, Guangzhou Medical College, Guangzhou, Guangdong, PR China.

出版信息

Hemoglobin. 2007;31(1):105-8. doi: 10.1080/03630260601059332.

DOI:10.1080/03630260601059332

PMID:17365012

Abstract

Hb Constant Spring (Hb CS; alpha142, Term-->Gln, TAA-->CAA in alpha2) is the most prevalent nondeletional alpha-thalassemia (thal) in Southeast Asian populations. It is difficult to detect on electrophoresis in its heterozygous state because of the low Hb CS levels. We found a case with Hb H (beta4) disease who, at birth, was initially assumed to have deletional alpha-thal mutations, but eventually proved to have a Hb CS defect.

摘要

血红蛋白恒河猴型（Hb CS；α142，末端→谷氨酰胺，α2基因中TAA→CAA）是东南亚人群中最常见的非缺失型α地中海贫血（地贫）。由于Hb CS水平较低，其杂合状态在电泳时难以检测到。我们发现一例患有血红蛋白H（β4）病的病例，该病例出生时最初被认为有缺失型α地贫突变，但最终证实存在Hb CS缺陷。