Beta-thalassemia alleles and unstable hemoglobin types among Russian pediatric patients.
A recently initiated collaboration between Russian and American institutions has resulted in the characterization of several known or new beta-thalassemia alleles and unstable hemoglobin types. Nine known beta-thalassemia alleles were present which have also been found in Mediterranean, East Asian, and Black populations; the possibility of independent mutations for some of the rare alleles should be considered. Hb Durham-N.C./Brescia with a codon 114 (CTG-->CCG; Leu-->Pro) change was present in six members of two families. This condition and two new variants have the characteristics of a dominant type of beta-thalassemia heterozygosity with moderate anemia, Heinz body formation, splenomegaly, etc. One new beta-thalassemia allele is a frame-shift at codon 124 (-A), while another is characterized by the introduction of an extra proline residue (codon: CCA) between residues Thr (beta 123) and Val (beta 126) to give the sequence -Thr-Pro-Pro-Pro-Val-.
Cürük
M A
MA
Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta 30912-2100.
Molchanova
T P
TP
Postnikov YuV
Pobedimskaya
D D
DD
Liang
R
R
Baysal
E
E
Kolodey
S
S
Smetanina
N S
NS
Tokarev YuN
Rumyantsev
A G
AG
D000293:Adolescent; D000483:Alleles; D000595:Amino Acid Sequence; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D003062:Codon; D004355:Drug Stability; D005260:Female; D016368:Frameshift Mutation; D014644:Genetic Variation; D006454:Hemoglobins / Q000032:analysis / Q000737:chemistry* / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D017086:beta-Thalassemia / Q000097:blood* / Q000235:genetics*
D003062:Codon; D006454:Hemoglobins