title: The nondeletional types of Hb H disease in Guangxi.
abstract: Three primers were designed, one specific for alpha 1-globin DNA, a second for alpha 2-globin DNA, and a third that is common for both alpha 1- and alpha 2-globin DNA. These three primers can be applied for selective amplification of the two globin DNA fragments, which is useful for identification of nondeletional types of Hb H disease. Fifty-nine DNA samples of Hb H patients from Guangxi were studied by selective amplification, and 27 cases (45.8%) were confirmed as nondeletional types. Of these, 22 (81.5%) had the Hb Constant Spring (CS) mutation and one had the Hb Quong Sze (QS) mutation; both were identified by hybridization with synthesized oligonucleotide probes. Nondeletional Hb H disease in Guangxi seems to be more severe than the deletional types. The average hemoglobin level of the nondeletional Hb H/CS (--/alpha alpha) is 6.8 g/dl, which is lower than that of the deletional types (7.9 g/dl), while the levels of Hb H and Hb Bart's were much higher in the patients with Hb H/CS than in those with the deletional types.
authors.affiliation: Department of Pediatrics, Affiliated Hospital of Guangxi Medical College, P.R. China.
authors.forename: X J
authors.initials: XJ
authors.lastname: Wen
authors.forename: S
authors.initials: S
authors.lastname: Liang
authors.forename: Q
authors.initials: Q
authors.lastname: Jin
authors.forename: W X
authors.initials: WX
authors.lastname: Lin
mesh_terms: D001483:Base Sequence; D002681:China; D005784:Gene Amplification / Q000235:genetics; D005838:Genotype; D005914:Globins / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D009693:Nucleic Acid Hybridization; D012689:Sequence Homology, Nucleic Acid; D013789:Thalassemia / Q000235:genetics*
chemical_list: D005914:Globins