Photo from wikipedia
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,… Click to show full abstract
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.
Keywords:
hc1 lys;
thalassemia;
144 hc1;
heze;
lys arg;
heze 144
Journal Title: Hemoglobin
Year Published: 2017
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!
Journal Title: Hemoglobin
Year Published: 2017
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!