由于高度不稳定的血红蛋白阿达纳（HBA2：c.179G>A）与一种新的24密码子突变（HBA2：c.75T>A）的复合杂合性导致的重度中间型α地中海贫血。
Severe α-thalassemia intermedia due to a compound heterozygosity for the highly unstable Hb Adana (HBA2: c.179G>A) and a novel codon 24 (HBA2: c.75T>A) mutation.
作者信息
Megawati Dewi, Nainggolan Ita M, Swastika Maria, Susanah Susi, Mose Johanes C, Harahap Alida R, Setianingsih Iswari
机构信息
The Eijkman Institute for Molecular Biology , Jakarta , Indonesia .
出版信息
Hemoglobin. 2014;38(2):149-51. doi: 10.3109/03630269.2013.863206. Epub 2013 Dec 18.
We report a novel mutation at codon 24 of the α2-globin gene (HBA2: c.75T > A) found in a Sundanese family. This novel mutation was detected during prenatal diagnosis. The couple already had a 7-year-old boy who exhibited clinically severe α-thalassemia intermedia (α-TI), and he was found to be a compound heterozygote for the novel mutation at codon 24 and the previously described Hb Adana (HBA2: c.179G > A) at codon 59 of the α2-globin gene. The father was a carrier of the novel point mutation and showed normal hemoglobin (Hb) and a low mean corpuscular volume (MCV) and mean corpuscular Hb (MCH) value.
我们报告了在一个巽他族家庭中发现的α2-珠蛋白基因第24密码子处的一个新突变（HBA2：c.75T > A）。这个新突变是在产前诊断期间检测到的。这对夫妇已经有一个7岁的男孩，他表现出临床严重的中间型α地中海贫血（α-TI），并且被发现是α2-珠蛋白基因第24密码子处的新突变与先前描述的α2-珠蛋白基因第59密码子处的Hb Adana（HBA2：c.179G > A）的复合杂合子。父亲是这个新的点突变的携带者，血红蛋白（Hb）正常，平均红细胞体积（MCV）和平均红细胞血红蛋白（MCH）值较低。
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