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].

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.