Hb Kurdistan [alpha 47(CE5)Asp-->Tyr], a new alpha chain variant in combination with beta (0)-thalassemia.
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.
Giordano
P C
PC
Institute of Human Genetics, State University of Leiden, The Netherlands.
Harteveld
C L
CL
Streng
H
H
Oosterwijk
J C
JC
Heister
J G
JG
Amons
R
R
Bernini
L F
LF
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*
D003062:Codon; D006455:Hemoglobins, Abnormal; C087403:hemoglobin Kurdistan; D005914:Globins