title: Hb A2-Wrens or alpha 2 delta 2 98(FG5) Val----Met, an unstable delta chain variant identified by sequence analysis of amplified DNA.
abstract: Data are reported for an 85-year-old black make who had an HPFH condition on one chromosome and a suspected 'delta-thalassemia' on the other. Sequence analysis of amplified DNA of an appropriate segment of the delta-globin gene identified a GTG to ATG mutation for codon 98 and thus a Val----Met replacement in the delta chain. This abnormality was confirmed by hybridization of amplified DNA with 32P-labeled synthetic probes and by the amino-acid composition of the isolated tryptic peptide delta T-11. Thus, the 'delta-thalassemia' is caused by the presence of an Hb A2 variant that is considered to be unstable to a similar extent as is Hb Köln, its beta chain counterpart.
authors: Department of Cell and Molecular Biology, Medical College of Georgia, Augusta 30912-2100.
authors: J F
authors: JF
authors: Codrington
authors: F
authors: F
authors: Kutlar
authors: H F
authors: HF
authors: Harris
authors: J B
authors: JB
authors: Wilson
authors: T A
authors: TA
authors: Stoming
authors: T H
authors: TH
authors: Huisman
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000595:Amino Acid Sequence; D001483:Base Sequence; D003062:Codon; D005091:Exons; D005319:Fetal Hemoglobin / Q000235:genetics / Q000378:metabolism; D005784:Gene Amplification; D005914:Globins / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D008715:Methionine; D008969:Molecular Sequence Data; D009154:Mutation; D009693:Nucleic Acid Hybridization; D013789:Thalassemia / Q000235:genetics; D014633:Valine
chemical_list: D003062:Codon; D006455:Hemoglobins, Abnormal; C061223:hemoglobin A2 Wrens; D005914:Globins; D005319:Fetal Hemoglobin; D008715:Methionine; D014633:Valine