title: Molecular characteristics of three hemoglobin variants observed in a Chinese population: Hb Ube-1 [β98 (FG5) Val→Met], Hb Ube‑2 [α68 (E17) Asn→Asp] and Hb Ube‑4 [α116 (GH4) Glu→Ala].
abstract: In this study we report three cases of Hb Ube-1, one case of Hb Ube-2 and one case of Hb Ube-4 in mainland China. One case of Hb Ube-1 had the clinical manifestation of hemolytic anemia. Hb Ube-2 and Hb Ube-4 did not appear to be associated with clinical or hematological abnormalities. The variants were detected by Hb electrophoresis during a thalassemia screening. Genomic DNA was extracted from the peripheral blood leukocytes of Hb specimens. α1, α2 and β-globin genes were amplified by polymerase chain reaction (PCR). All variants were confirmed by DNA sequence analysis and the PCR-restriction fragment length polymorphism assay.
authors.affiliation: Department of Central Laboratory, Chaozhou Central Hospital, Chaozhou, Guangdong, People's Republic of China.
authors.forename: Yue
authors.initials: Y
authors.lastname: Huang
authors.forename: Min
authors.initials: M
authors.lastname: Lin
authors.forename: Chun-Ping
authors.initials: CP
authors.lastname: Lin
authors.forename: Jiao-Ren
authors.initials: JR
authors.lastname: Wu
authors.forename: Luo-Han
authors.initials: LH
authors.lastname: Zheng
authors.forename: Li-Ye
authors.initials: LY
authors.lastname: Yang
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D002681:China; D005260:Female; D014644:Genetic Variation; D015894:Genome, Human; D006454:Hemoglobins / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics; D006801:Humans; D007962:Leukocytes / Q000276:immunology / Q000378:metabolism; D008297:Male; D012150:Polymorphism, Restriction Fragment Length; D017422:Sequence Analysis, DNA; D055815:Young Adult
chemical_list: D006454:Hemoglobins; D006455:Hemoglobins, Abnormal; C033431:hemoglobin UBE-2