title: Combination of Hb Heze [β144(HC1)Lys→Arg; HBB: c.434A>G] and β0-Thalassemia in a Chinese Patient with β-Thalassemia Intermedia.
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.
authors.affiliation: a Guangzhou Women and Children Medical Center , Guangzhou Medical University , Guangzhou , Guangdong , People's Republic of China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Li
authors.affiliation: a Guangzhou Women and Children Medical Center , Guangzhou Medical University , Guangzhou , Guangdong , People's Republic of China.
authors.forename: Jin-Mei
authors.initials: JM
authors.lastname: Yan
authors.affiliation: a Guangzhou Women and Children Medical Center , Guangzhou Medical University , Guangzhou , Guangdong , People's Republic of China.
authors.forename: Jian-Ying
authors.initials: JY
authors.lastname: Zhou
authors.affiliation: a Guangzhou Women and Children Medical Center , Guangzhou Medical University , Guangzhou , Guangdong , People's Republic of China.
authors.forename: Yue-Cheng
authors.initials: YC
authors.lastname: Lu
authors.affiliation: a Guangzhou Women and Children Medical Center , Guangzhou Medical University , Guangzhou , Guangdong , People's Republic of China.
authors.forename: Dong-Zhi
authors.initials: DZ
authors.lastname: Li
mesh_terms: D000483:Alleles; D019943:Amino Acid Substitution; D044466:Asian People / Q000235:genetics*; D002681:China; D003062:Codon; D004252:DNA Mutational Analysis; D004909:Erythrocyte Indices; D005260:Female; D005838:Genotype; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000097:blood / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D003062:Codon; D006455:Hemoglobins, Abnormal; D055544:beta-Globins
keywords: hemoglobin (Hb) variant; β-Chain variant; β-thalassemia (β-thal)