A novel compound heterozygosity in Southern China: IVS-II-5 (G > C) and IVS-II-672 (A > C).
β-Thalassemia (β-thal) is a common hereditary anemia due to decreased or absent synthesis of the β-globin chains. Here, we report a patient found to be a novel compound heterozygote for the rare IVS-II-5 (G > C) (NG_000007.3: g.71044G > C) and IVS-II-672 (A > C) (NG_000007.3: g.71711A > C) mutations, which may be silent mutations that are associated with consistent residual output of β chains, normal red blood cell (RBC) indices and normal or borderline Hb A2levels.
a Department of Laboratory , The People's Hospital of Guangxi Zhuang Autonomous Region , Nanning , People's Republic of China.
Lin
L
Zhao
b Department of Gynecology , The People's Hospital of Guangxi Zhuang Autonomous Region , Nanning , People's Republic of China.
Jilin
J
Qing
a Department of Laboratory , The People's Hospital of Guangxi Zhuang Autonomous Region , Nanning , People's Republic of China.
Yue
Y
Liang
a Department of Laboratory , The People's Hospital of Guangxi Zhuang Autonomous Region , Nanning , People's Republic of China.
Zhizhong
Z
Chen
D000328:Adult; D002681:China; D004909:Erythrocyte Indices; D006443:Hemoglobin A2 / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D017354:Point Mutation; D017422:Sequence Analysis, DNA; D000069456:Silent Mutation; D055544:beta-Globins / Q000235:genetics; D017086:beta-Thalassemia / Q000235:genetics*
D055544:beta-Globins; D006443:Hemoglobin A2
DNA; compound heterozygosity; point mutation; sequence analysis; β-Thalassemia