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

被引：6
|
作者：
Megawati, Dewi [1 ,2 ]
Nainggolan, Ita M. [1 ,2 ]
Swastika, Maria [1 ]
Susanah, Susi [3 ]
Mose, Johanes C. [4 ]
Harahap, Alida R. [1 ,5 ]
Setianingsih, Iswari [1 ]
机构：
[1] Eijkman Inst Mol Biol, Jakarta 14030, Indonesia
[2] Univ Indonesia, Biomed Sci Fac Med, Jakarta, Indonesia
[3] Padjajaran Univ, Dept Pediat Hemat Oncol, Hasan Sadikin Gen Hosp, Fac Med, Bandung, Indonesia
[4] Padjajaran Univ, Dept Obstet Gynecol, Hasan Sadikin Gen Hosp, Fac Med, Bandung, Indonesia
[5] Univ Indonesia, Dept Clin Pathol, Fac Med, Jakarta, Indonesia
来源：
HEMOGLOBIN | 2014年 / 38卷 / 02期
关键词：
alpha-globin gene; alpha-Thalassemia (alpha-thal); nonsense mutation; point mutation; prenatal diagnosis; MESSENGER-RNA; GENE; DELETION;
D O I：
10.3109/03630269.2013.863206
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
We report a novel mutation at codon 24 of the alpha 2-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 alpha-thalassemia intermedia (alpha-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 alpha 2-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.
引用
收藏
页码：149 / 151
页数：3
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