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  • Title: Combination of Hb Heze [β144(HC1)Lys→Arg; HBB: c.434A>G] and β0-Thalassemia in a Chinese Patient with β-Thalassemia Intermedia.
    Author: Li Y, Yan JM, Zhou JY, Lu YC, Li DZ.
    Journal: Hemoglobin; 2017 Jan; 41(1):47-49. PubMed ID: 28366026.
    Abstract:
    We first report a novel β chain variant, Hb Heze [β144(HC1)Lys→Arg; HBB: c.434A>G], in a Chinese family. Heterozygous inheritance of the mutation results in a mild β-thalassemia (β-thal) phenotype, whereas compound heterozygosity of Hb Heze with β0-thal appears as the cause of β-thal intermedia (β-TI) in our case.
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