title: A Novel α2-Globin Gene Mutation: Hb Debao [α31(B12)Arg→Trp; HBA2: c.94A>T].
abstract: We report a novel mutation on the α2-globin gene, Hb Debao [α31(B12)Arg→Trp; HBA2: c.94A>T] detected in a Chinese family. This mutation gives rise to a previously undescribed hemoglobin (Hb) variant that was undetectable by electrophoretic or chromatographic methods. Hb Debao was associated with an α+-thalassemia (α+-thal) deletion [-α3.7(rightward)] producing a mild phenotype with significant microcytosis and hypochromia, while the combination of this mutation with an α0-thal deletion (--SEA) resulting in a severe form of Hb H (β4) disease, which is consistent with a thalassemic phenotype associated with the novel mutation.
authors.affiliation: a Prenatal Diagnosis Center , Guangxi Zhuang Autonomous Region Women and Children Care Hospital , Nanning , PR 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 , PR 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 , PR 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 , PR 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 , PR 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 , PR 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 , PR 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 , PR China.
authors.forename: Xiao-Xia
authors.initials: XX
authors.lastname: Qiu
authors.affiliation: a Prenatal Diagnosis Center , Guangxi Zhuang Autonomous Region Women and Children Care Hospital , Nanning , PR China.
authors.forename: Sheng
authors.initials: S
authors.lastname: He
mesh_terms: D000328:Adult; D000483:Alleles; D017398:Alternative Splicing; D019943:Amino Acid Substitution; D002648:Child; D003062:Codon; D004252:DNA Mutational Analysis; D004909:Erythrocyte Indices; D005260:Female; D005838:Genotype; D006443:Hemoglobin A2 / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010641:Phenotype; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000097:blood / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D003062:Codon; D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; D006443:Hemoglobin A2
keywords: Hb Debao; nondeletional mutation; α-thalassemia; α2-globin gene