title: Hb Koya Dora [alpha142, Term-->Ser (TAA>TCA in alpha2)]: a rare mutation of the alpha2 gene stop codon associated with alpha-thalassemia.
abstract: Hb Constant Spring [(Hb CS) alpha142, Term-->Gln (TAA>CAA in alpha2)] and Hb Koya Dora [alpha142, Term-->Ser (TAA>TCA in alpha2)] both involve mutations of the alpha2 gene stop codon and while Hb CS is the most frequent cause of nondeletional alpha-thalassemia (alpha-thal) in Southeast Asia, Hb Koya Dora is limited to a restricted population from Andhra Pradesh, India. Here we identify a homozygous case of Hb Koya Dora and confirm the structure of the 31 residue alpha chain extension.
authors.affiliation: Molecular Pathology Laboratory, University of Otago, Christchurch, New Zealand. steve.brennan@otago.ac.nz
authors.forename: Stephen O
authors.initials: SO
authors.lastname: Brennan
authors.forename: Sheila
authors.initials: S
authors.lastname: Ryken
authors.forename: Tim
authors.initials: T
authors.lastname: Chan
mesh_terms: D000328:Adult; D002851:Chromatography, High Pressure Liquid; D018388:Codon, Terminator / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D009154:Mutation; D021241:Spectrometry, Mass, Electrospray Ionization; D017085:alpha-Thalassemia / Q000235:genetics* / Q000378:metabolism
chemical_list: D018388:Codon, Terminator; D006455:Hemoglobins, Abnormal