title: Delta beta-thalassemia in an African-American: identification of the deletion endpoints and PCR-based diagnosis.
abstract: We describe an African-American child with beta-thalassemia intermedia. Molecular studies revealed that the proband is a compound heterozygote for the -29 (A-->G) beta (+)-thalassemia mutation and an extensive deletion involving the delta- and beta-globin genes. The proband's mother is a simple carrier of the deletion and exhibits the phenotype of delta beta-thalassemia rather than hereditary persistence of fetal hemoglobin. The deletion spans 11,767 bp, with the 5' deletion endpoint located 2,455 bp upstream of the delta-globin gene mRNA Cap site and the 3' endpoint located 441 bp downstream of the termination codon of the beta-globin gene. Based on this information, we have developed a polymerase chain reaction strategy for the rapid detection of this delta beta-thalassemia deletion.
authors.affiliation: Provincial Hemoglobinopathy DNA Diagnostic Laboratory, McMaster University Medical Centre, Hamilton, Ontario, Canada.
authors.forename: J S
authors.initials: JS
authors.lastname: Waye
authors.forename: B
authors.initials: B
authors.lastname: Eng
authors.forename: M B
authors.initials: MB
authors.lastname: Coleman
authors.forename: M H
authors.initials: MH
authors.lastname: Steinberg
authors.forename: B P
authors.initials: BP
authors.lastname: Alter
mesh_terms: D000328:Adult; D001483:Base Sequence; D044383:Black People / Q000235:genetics; D002648:Child; D003062:Codon / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005914:Globins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D012315:RNA Caps / Q000235:genetics; D016415:Sequence Alignment; D017384:Sequence Deletion; D013781:Texas; D013789:Thalassemia / Q000145:classification / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D001741:Black or African American
chemical_list: D003062:Codon; D012315:RNA Caps; D005914:Globins