| Literature DB >> 27829298 |
Lin Zhao1, Jilin Qing2, Yue Liang1, Zhizhong Chen1.
Abstract
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 A2 levels.Entities:
Keywords: DNA; compound heterozygosity; point mutation; sequence analysis; β-Thalassemia
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Year: 2016 PMID： 27829298 DOI： 10.1080/03630269.2016.1252387
Source DB: PubMed Journal: Hemoglobin ISSN： 0363-0269 Impact factor: 0.849