BETA-THALASSEMIA ALLELES AND UNSTABLE HEMOGLOBIN TYPES AMONG RUSSIAN PEDIATRIC-PATIENTS

A recently initiated collaboration between Russian and American instit utions has resulted in the characterization of several known or new be ta-thalassemia alleles and unstable hemoglobin types. Nine known beta- thalassemia alleles were present which have also been found in Mediter ranean, East Asian, and Black populations; the possibility of independ ent mutations for some of the rare alleles should be considered. Hb Du rham-N.C./Brescia with a codon 114 (CTG --> CCG; Leu --> Pro) change w as present in six members of two families. This condition and two new variants have the characteristics of a dominant type of beta-thalassem ia heterozygosity with moderate anemia, Heinz body formation, splenome galy, etc. One new beta-thalassemia allele is a frame-shift at codon 1 24 (-A), while another is characterized by the introduction of an extr a proline residue (codon: CCA) between residues Thr (beta 123) and Val (beta 126) to give the sequence-Thr-Pro-Pro-Pro-Val-. (C) 1994 Wiley- Liss, Inc.