title: A novel 6.3 kb deletion and the Rare 27.6 kb Deletion Causing α+-Thalassemia in two Chinese Patients.
abstract: We report a novel -α6.3deletion and a rare -α27.6deletion causing α+-thalassemia (α+-thal), in two Chinese patients. One patient was a 35-year-old Chinese man with a mild α+-thal phenotype [mean corpuscular volume (MCV) 83.6 fL] and the Hb A2level (2.5%) was close to borderline of the normal range. Multiplex ligation-dependent probe amplification (MLPA) revealed a novel 6344 bp deletion involving the entire HBA1 gene. Mapping by gap-polymerase chain reaction (gap-PCR) defined the exact breakpoint of this deletion to be NG_000006.1: g.31022_37366del6344. It was unique relative to other forms of α-thalassemia (α-thal) reported in the literature, and was designated as -α6.3deletion. The other patient, a 41-year-old woman had Hb H (β4) disease [hemoglobin (Hb) level of 8.9 g/dL] with a compound heterozygosity for the - -SEA(NG_000006.1: g.26264_45564del19301) deletion. The MLPA and gap-PCR methodologies confirmed the breakpoint (NG_000006.1: g.9079_36718del27640) and identified it as the rare -α27.6deletion.
authors.affiliation: a Department of Pediatrics , Shantou Central Hospital, Affiliated to Shantou Hospital of Sun Yat-Sen University , Shantou , People's Republic of China.
authors.forename: Xian-Yao
authors.initials: XY
authors.lastname: Wang
authors.affiliation: a Department of Pediatrics , Shantou Central Hospital, Affiliated to Shantou Hospital of Sun Yat-Sen University , Shantou , People's Republic of China.
authors.forename: Ming-Xiang
authors.initials: MX
authors.lastname: Lin
authors.affiliation: b Department of Histology and Embryology , Shantou University Medical College , Shantou , People's Republic of China.
authors.forename: Min
authors.initials: M
authors.lastname: Lin
mesh_terms: D000328:Adult; D044466:Asian People; D004909:Erythrocyte Indices; D005260:Female; D006442:Glycated Hemoglobin / Q000235:genetics; D006801:Humans; D008297:Male; D010641:Phenotype; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion / Q000235:genetics*; D017085:alpha-Thalassemia / Q000235:genetics*
chemical_list: D006442:Glycated Hemoglobin
keywords: Chinese; novel deletion; α-Thalassemia (α-thal)