title: A moderately severe alpha-thalassemia condition resulting from a combination of the alpha2 polyadenylation signal (AATAAA-->AATA- -) mutation and a 3.7 Kb alpha gene deletion in an Australian family.
abstract: We have recently studied a family with a rare combination of two abnormal alpha-globin genes. The combination of a two-base (AA) deletion in the alpha2 polyadenylation signal (poly A) (AATAAA-->AATA- -) and a 3.7 kb alpha gene deletion, found in two children, resulted in a moderately severe thalassemic condition. Both parents and three siblings were tested and the hematological condition and molecular findings are presented. The father was born in India with Portuguese and British ancestry; the mother is of Dutch ancestry. All three siblings were born in Australia.
authors.affiliation: Department of Haematology, PathWest Laboratory Medicine, Sir Charles Gairdner Hospital, Nedlands, Western Australia. john.prior@health.wa.gov.au
authors.forename: John F
authors.initials: JF
authors.lastname: Prior
authors.forename: Erna
authors.initials: E
authors.lastname: Lim
authors.forename: Neela
authors.initials: N
authors.lastname: Lingam
authors.forename: John L
authors.initials: JL
authors.lastname: Raven
authors.forename: Jill
authors.initials: J
authors.lastname: Finlayson
mesh_terms: D000328:Adult; D001315:Australia; D001483:Base Sequence; D005260:Female; D017353:Gene Deletion; D005914:Globins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D017384:Sequence Deletion; D017085:alpha-Thalassemia / Q000235:genetics*
chemical_list: D005914:Globins