title: Mild beta+(-87)-thalassemia CACCC box mutation is associated with elevated fetal hemoglobin expression in cis.
abstract: The beta zero-thalassemia codon 39 nonsense mutation predominant in Sardinia is severe, and homozygotes are transfusion dependent. Two-thirds of beta zero 39 alleles are linked to A gamma T (haplotype II). One-fourth are linked to A gamma I (haplotypes I and IX), as is the mild beta +-thalassemia -87 C-->G mutation (haplotype VIII). beta +/beta zero-Thalassemia VIII/II compound heterozygotes have significantly higher A gamma I:A gamma T (23:7) than beta zero-thalassemia I/II (24:20) or IX/II (16:17) cases. This suggests that the beta + -87 mutation is associated with elevated gamma expression in cis, which may contribute to the lack of transfusion-dependence in beta +/beta zero cases.
authors.affiliation: Division of Hematology, Albert Einstein College of Medicine/Montefiore Medical Center, Bronx, New York 10467.
authors.forename: J G
authors.initials: JG
authors.lastname: Gilman
authors.forename: L
authors.initials: L
authors.lastname: Manca
authors.forename: L
authors.initials: L
authors.lastname: Frogheri
authors.forename: P
authors.initials: P
authors.lastname: Pistidda
authors.forename: L
authors.initials: L
authors.lastname: Guiso
authors.forename: M
authors.initials: M
authors.lastname: Longinotti
authors.forename: B
authors.initials: B
authors.lastname: Masala
mesh_terms: D000328:Adult; D000368:Aged; D001483:Base Sequence; D005319:Fetal Hemoglobin / Q000096:biosynthesis*; D015870:Gene Expression; D005914:Globins / Q000235:genetics*; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D007558:Italy; D008969:Molecular Sequence Data; D017354:Point Mutation; D011401:Promoter Regions, Genetic / Q000235:genetics*; D012720:Severity of Illness Index; D017086:beta-Thalassemia / Q000097:blood / Q000235:genetics*
chemical_list: D005914:Globins; D005319:Fetal Hemoglobin