在一名白人婴儿中检测到一种新的Aγ-珠蛋白链变体：Hb F-Sykesville MD [Aγ113(G15)缬氨酸→异亮氨酸；HBG1：c.340G>A] 。
A new Aγ-globin chain variant: Hb F-Sykesville MD [Aγ113(G15)Val → Ile; HBG1: c.340G>A] detected in a Caucasian baby.
作者信息
Patel Niren, Fixler Jason, Unguru Yoram, Kutlar Abdullah, Kutlar Ferdane
机构信息
Department of Medicine, Georgia Regent's University Augusta , Augusta, Georgia , USA .
出版信息
Hemoglobin. 2015;39(1):52-4. doi: 10.3109/03630269.2014.986276. Epub 2015 Jan 7.
The total number of hemoglobin (Hb) variants currently included in the globin gene server database is 1626 (November 12 2014), of which 131 are fetal Hb variants. These variants are observed as two different subunits of fetal Hb, (G)γ- and (A)γ-globin chains. Of the 131 documented fetal Hb variants, 73 are (G)γ- and 58 are (A)γ-globin chain variants. Although they are easily detected at birth, as the quantity of γ chains progressively decreases over the first few months of life, they are essentially undetectable after 6 months of age. In this report we discuss the molecular characteristics and diagnostic criteria of a new (A)γ chain variant that was detected during newborn screening and named Hb F-Sykesville MD [(A)γ113(G15)Val → Ile; HBG1: c.340G>A].
截至2014年11月12日，珠蛋白基因服务器数据库中目前收录的血红蛋白（Hb）变体总数为1626种，其中131种为胎儿血红蛋白变体。这些变体表现为胎儿血红蛋白的两个不同亚基，即（G）γ-和（A）γ-珠蛋白链。在131种已记录的胎儿血红蛋白变体中，73种是（G）γ-珠蛋白链变体，58种是（A）γ-珠蛋白链变体。尽管它们在出生时很容易被检测到，但随着γ链数量在生命的最初几个月逐渐减少，在6个月龄后基本上就检测不到了。在本报告中，我们讨论了一种新的（A）γ链变体的分子特征和诊断标准，该变体是在新生儿筛查期间检测到的，命名为Hb F-Sykesville MD [（A）γ113（G15）Val→Ile；HBG1：c.340G>A]。
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