title: Hb Duan [alpha 75(EF4)Asp----Ala], Hb Westmead [alpha 122(H5)His----Gln], and alpha-thalassemia-2 (-4.2 Kb deletion) in a Chinese family.
abstract: Detailed data are presented concerning the relative amounts of Hb A and two alpha chain variants (Hb Duan with alpha 75 Asp----Ala, and Hb Westmead with alpha 122 His----Gln), and the occurrence of an alpha-thalassemia-2 heterozygosity in five members of a small Chinese family. The three children who have the three abnormalities inherited the alpha-Duan and alpha-thalassemia-2 heterozygosities from their father, and the alpha-Westmead heterozygosity from their mother. The base substitution which leads to the synthesis of the alpha-Duan chain occurred at codon 75 of the alpha 1 globin gene of the chromosome which also carried the alpha-thalassemia-2 deletion; the concentration of alpha-Duan (37% of total alpha) is similar to that observed for other alpha chain variants, linked to an alpha-thalassemia-2 condition.
authors.affiliation: Guangxi Medical College, P.R. China.
authors.forename: S
authors.initials: S
authors.lastname: Liang
authors.forename: Z
authors.initials: Z
authors.lastname: Tang
authors.forename: C
authors.initials: C
authors.lastname: Su
authors.forename: Q
authors.initials: Q
authors.lastname: Lung
authors.forename: R
authors.initials: R
authors.lastname: Liang
authors.forename: Y J
authors.initials: YJ
authors.lastname: Fei
authors.forename: F
authors.initials: F
authors.lastname: Kutlar
authors.forename: J B
authors.initials: JB
authors.lastname: Wilson
authors.forename: B B
authors.initials: BB
authors.lastname: Webber
authors.forename: H
authors.initials: H
authors.lastname: Hu
mesh_terms: D000293:Adolescent; D000596:Amino Acids / Q000032:analysis; D002648:Child; D002681:China; D002872:Chromosome Deletion; D005260:Female; D005914:Globins / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000032:analysis* / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013789:Thalassemia / Q000097:blood / Q000235:genetics*
chemical_list: D000596:Amino Acids; D006455:Hemoglobins, Abnormal; C056329:Hemoglobin Westmead; C032027:hemoglobin Duan; D005914:Globins