MUTATION | Initiation codon ATG->ATT | ||
---|---|---|---|
AMINO ACID REPLACEMENT | Met->Ile | ||
TYPE OF BETA-THAL | beta° | ||
MECHANISM | Defective mRNA translation and no beta chain production; initiation of translation likely changed to codons 21-22, termination at codons 60-61 (TGA) | ||
IDENTIFICATION | Not presented | ||
HEMATOLOGY IN HETEROZYGOTE(S) | Not presented | ||
HEMATOLOGY IN HOMOZYGOTE(S) | Not presented | ||
OCCURRENCE | In an Iranian family | ||
OTHER INFORMATION | No other information available |
REFERENCES | |||
1. | Nozari, G., Rahbar, S., Golshaiyzan, A., and Rahmandzadeh, S.: Hemoglobin, 19:425, 1995. |