title: Molecular basis and hematological characterization of Hb H disease in southeast Asia.
abstract: We molecularly characterized sixty-seven cases of Hb H disease by the polymerase chain reaction. The strategy depends on amplifying the alpha-thalassemia-1 (alpha-thal-1) gene by primers flanking the breakpoint and sequence differences of the 3' end of the alpha-globin gene and the nonhomologous elements I, II, and III among different types of alpha-thala-2. In the 67 cases studied, all involved alpha-thal-1 of the Southeast Asia type (SEA) in combination with deletional or nondeletional alpha-thal-2. Thirty-two cases were of the deletion form and 35 cases were of the nondeletion form. In 32 cases of the deletion form, 29 cases were rightward deletion (-alpha 3.7), and three cases were leftward deletion (-alpha 4.2). We found that all of the nondeletion forms were alpha-thal-1 of SEA type with Hb CS. After the subtyping of Hb H with -alpha 3.7, 26 out of 29 were type I deletion and 3 out of 29 were type II deletion. Comparisons of clinical data of deletion forms and the nondeletion form showed that there were earlier occurrence of anemic symptoms and a larger erythrocyte volume in the nondeletion form group (P < 0.005).
authors.affiliation: Department of Internal Medicine and Pediatrics, Kaohsiung Medical College, Taiwan.
authors.forename: T C
authors.initials: TC
authors.lastname: Liu
authors.forename: S S
authors.initials: SS
authors.lastname: Chiou
authors.forename: S F
authors.initials: SF
authors.lastname: Lin
authors.forename: T P
authors.initials: TP
authors.lastname: Chen
authors.forename: W P
authors.initials: WP
authors.lastname: Tseng
authors.forename: P H
authors.initials: PH
authors.lastname: Chen
authors.forename: J G
authors.initials: JG
authors.lastname: Chang
mesh_terms: D001210:Asia, Southeastern / Q000453:epidemiology; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D017353:Gene Deletion; D005796:Genes; D005914:Globins / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D017085:alpha-Thalassemia / Q000097:blood* / Q000453:epidemiology / Q000235:genetics*
chemical_list: D005914:Globins; D004247:DNA