title: Severe Hb S-beta zero-thalassaemia with a T----C substitution in the donor splice site of the first intron of the beta-globin gene.
abstract: Through direct sequencing and dot-blot analyses with synthetic oligonucleotide probes of amplified DNA, a new nucleotide substitution was discovered in a Black teenager with severe Hb S-beta zero-thalassaemia. The substitution involved a T----C replacement at the second position of the donor splice site of the first intervening sequence of the beta-globin gene. The clinical and haematological observations made in Black subjects with Hb S-beta zero-thalassaemia, with different types of thalassaemia, suggest severe disease resembling sickle cell anaemia. Only an occasional patient had a milder clinical course, perhaps because of a greatly increased production of fetal haemoglobin.
authors.affiliation: Department of Cell and Molecular Biology, Medical College of Georgia, Augusta 30912-2100.
authors.forename: J M
authors.initials: JM
authors.lastname: Gonzalez-Redondo
authors.forename: T A
authors.initials: TA
authors.lastname: Stoming
authors.forename: F
authors.initials: F
authors.lastname: Kutlar
authors.forename: A
authors.initials: A
authors.lastname: Kutlar
authors.forename: V C
authors.initials: VC
authors.lastname: McKie
authors.forename: K M
authors.initials: KM
authors.lastname: McKie
authors.forename: T H
authors.initials: TH
authors.lastname: Huisman
mesh_terms: D000293:Adolescent; D005914:Globins / Q000235:genetics*; D006451:Hemoglobin, Sickle / Q000235:genetics*; D006801:Humans; D007438:Introns; D008297:Male; D009154:Mutation; D013789:Thalassemia / Q000235:genetics*
chemical_list: D006451:Hemoglobin, Sickle; D005914:Globins