title: Hb Kurdistan [alpha 47(CE5)Asp-->Tyr], a new alpha chain variant in combination with beta (0)-thalassemia.
abstract: We have characterized the structural abnormality of a new alpha chain mutant found in a Kurdish family. The clinical and hematological investigation of eight individuals have shown that the alpha variant is associated with a beta(0)-thalassemia mutation (nonsense codon 39). The tryptic peptide map and sequencing of the abnormal peptide revealed the substitution of an aspartic acid by a tyrosine residue at position 47 of the alpha chain; furthermore, selective amplification and molecular analysis of both alpha genes have assigned the new mutation to the alpha 2 gene. The variant, named Hb Kurdistan, is clinically silent but the percentage of this hemoglobin found in the only double heterozygote for beta (0)-thalassemia and alpha-Kurdistan, presumably indicates a lower affinity of the abnormal chain for the beta polypeptides.
authors.affiliation: Institute of Human Genetics, State University of Leiden, The Netherlands.
authors.forename: P C
authors.initials: PC
authors.lastname: Giordano
authors.forename: C L
authors.initials: CL
authors.lastname: Harteveld
authors.forename: H
authors.initials: H
authors.lastname: Streng
authors.forename: J C
authors.initials: JC
authors.lastname: Oosterwijk
authors.forename: J G
authors.initials: JG
authors.lastname: Heister
authors.forename: R
authors.initials: R
authors.lastname: Amons
authors.forename: L F
authors.initials: LF
authors.lastname: Bernini
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D000747:Anemia, Hypochromic / Q000150:complications* / Q000235:genetics; D001483:Base Sequence; D001797:Blood Protein Electrophoresis; D002852:Chromatography, Ion Exchange; D003062:Codon; D005260:Female; D005914:Globins / Q000235:genetics*; D006111:Graves Disease / Q000150:complications; D006453:Hemoglobinopathies / Q000150:complications* / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics / Q000302:isolation & purification*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D017086:beta-Thalassemia / Q000150:complications*
chemical_list: D003062:Codon; D006455:Hemoglobins, Abnormal; C087403:hemoglobin Kurdistan; D005914:Globins