title: A Novel Mutation of the α2-Globin Gene Causing α+-Thalassemia: Hb Nanning (HBA2: c.369_370delinsGA).
abstract: We report a novel mutation on the α2-globin gene, Hb Nanning (HBA2:c.369_370delinsGA) detected in a Chinese family. This mutation gives rise to a previously undescribed hemoglobin (Hb) variant that was undetectable by various separation techniques. Both carriers of the mutation have mean corpuscular volume (MCV) and mean corpuscular Hb (MCH) values that are below normal, as would be predicted for an α+-thalassemia (α+-thal) patient.
authors.affiliation: a Prenatal Diagnosis Center , Guangxi Zhuang Autonomous Region Women and Children Care Hospital , Nanning , People's Republic of China.
authors.forename: Biyan
authors.initials: B
authors.lastname: Chen
authors.affiliation: a Prenatal Diagnosis Center , Guangxi Zhuang Autonomous Region Women and Children Care Hospital , Nanning , People's Republic of China.
authors.forename: Li
authors.initials: L
authors.lastname: Lin
authors.affiliation: a Prenatal Diagnosis Center , Guangxi Zhuang Autonomous Region Women and Children Care Hospital , Nanning , People's Republic of China.
authors.forename: Shang
authors.initials: S
authors.lastname: Yi
authors.affiliation: a Prenatal Diagnosis Center , Guangxi Zhuang Autonomous Region Women and Children Care Hospital , Nanning , People's Republic of China.
authors.forename: Qiuli
authors.initials: Q
authors.lastname: Chen
authors.affiliation: a Prenatal Diagnosis Center , Guangxi Zhuang Autonomous Region Women and Children Care Hospital , Nanning , People's Republic of China.
authors.forename: Hongwei
authors.initials: H
authors.lastname: Wei
authors.affiliation: b Research Department , Guangxi Zhuang Autonomous Region Health and Family Planning Commission , Nanning , People's Republic of China.
authors.forename: Guojian
authors.initials: G
authors.lastname: Li
authors.affiliation: a Prenatal Diagnosis Center , Guangxi Zhuang Autonomous Region Women and Children Care Hospital , Nanning , People's Republic of China.
authors.forename: Chenguang
authors.initials: C
authors.lastname: Zheng
authors.affiliation: a Prenatal Diagnosis Center , Guangxi Zhuang Autonomous Region Women and Children Care Hospital , Nanning , People's Republic of China.
authors.forename: Sheng
authors.initials: S
authors.lastname: He
authors.affiliation: a Prenatal Diagnosis Center , Guangxi Zhuang Autonomous Region Women and Children Care Hospital , Nanning , People's Republic of China.
authors.forename: XiaoXia
authors.initials: X
authors.lastname: Qiu
mesh_terms: D000293:Adolescent; D000483:Alleles; D019943:Amino Acid Substitution; D015415:Biomarkers; D003062:Codon; D004252:DNA Mutational Analysis; D004909:Erythrocyte Indices; D005260:Female; D056726:Genetic Association Studies; D006443:Hemoglobin A2 / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D017384:Sequence Deletion; D055815:Young Adult; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000097:blood / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D015415:Biomarkers; D003062:Codon; D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; D006443:Hemoglobin A2
keywords: Hb Nanning; nondeletional mutation; α-Globin; α-thalassemia (α-thal)