MUTATION | Initiation codon ATG->ATA | ||
---|---|---|---|
AMINO ACID REPLACEMENT | Met->Ile | ||
TYPE OF BETA-THAL | beta° | ||
MECHANISM | Defective mRNA translation; absence of beta chain production; initiation of translation changed to codons 21-22; termination at codons 60-61 (TGA) | ||
IDENTIFICATION | Amplification of the beta-globin gene; denaturing gradient gel electrophoresis; DNA sequencing | ||
HEMATOLOGY IN HETEROZYGOTE(S) | Hb 11.5 g/dl; MCV 54.8 fl; MCH 17.3 pg; Hb A2 6.2%; Hb F 2.3% | ||
HEMATOLOGY IN HOMOZYGOTE(S) | Not observed | ||
OCCURRENCE | In an Italian and a Swedish family | ||
HAPLOTYPE | Not reported | ||
FOUND IN COMBINATION WITH ABNORMAL HB(S) | Not reported | ||
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) | Not reported | ||
OTHER INFORMATION | A C->T polymorphism at codon 2 was also present |
REFERENCES | |||
1. | Saba, L., Meloni, A., Sardu, R., Travi, M., Primignani, P., Rosatelli, M.C., and Cao, A.: Hum. Mutat., 1:420, 1992. | ||
2. | Landin, B., Rudolphi, O., and Ek, B.: Am. J. Hematol., 48:158, 1995. |