Identification of Three Families Carrying Hb Anti-Lepore Hong Kong Variant in Guangxi, China, and Analysis of Their Hematological Data

Abnormal hemoglobin anti-Lepore Hong Kong compound with β0-thalassemia ameliorate thalassemia severity when co-inherited with α-thalassemia

“…Anti-Lepore hemoglobins (Hbs) are generated through non-equal crossover between β- and δ-globin genes during meiosis, resulting in hybrid βδ trains. Currently, nine types of anti-Lepore Hbs have been identified worldwide, including Hb Parchman (NG_000007.3: g.[63249_70661del;63571_70985dup]) 1 , Hb Miyada (NG_000007.3: g.63249_70661dup) 2 , Hb P-India (NG_000007.3: g.63632_71046dup), Hb P-Congo (NG_000007.3: g/64557_ 71923dup) 3 , Hb Lincoln Park (HBD: c.412_414delGTG) 4 , Hb P-Nilotic (HbVar ID 748) 5 , Hb anti-Lepore CHORI (NG_000007.3: g.63375_70786dup) 6 , Hb anti-Lepore Hong Kong (NG_000007.3: g.63154_70565dup) 7 and Hb Palencia 1 ( http://globin.cse.psu.edu/ ). Most anti-Lepore Hbs do not significantly affect clinical presentation, and individuals who are heterozygous for these variants typically exhibit normal phenotypes.…”

“…Most anti-Lepore Hbs do not significantly affect clinical presentation, and individuals who are heterozygous for these variants typically exhibit normal phenotypes. However, it has been reported that heterozygous of anti-Lepore Hong Kong compounded with β 0 -thalassemia will behave a mild thalassemia intermedia phenotype 7 . So et al 8 reported that a mild reduction of β-globin gene expression was seen in simple anti-Lepore Hong Kong heterozygotes when compared with β-thalassemia minor carriers (mean α/β ratio 3.62 vs. 17.23).…”