MUTATION | Codon 125 (-A); CCA(Pro)->CC- | ||
---|---|---|---|
AMINO ACID REPLACEMENT | Extended beta chain | ||
TYPE OF BETA-THAL | Dominant inclusion body beta-thal trait | ||
MECHANISM | The loss of A from codon 125 results in a frameshift with a stop codon at codon 157; this extended betaX chain (156 amino acids) is unstable and rapidly catabolized | ||
IDENTIFICATION | Amplification of the beta-globin gene; DNA sequencing | ||
HEMATOLOGY IN HETEROZYGOTE(S) | The proband was considered for a bone marrow transplant assuming a diagnosis of beta-thal major | ||
HEMATOLOGY IN HOMOZYGOTE(S) | Not observed | ||
OCCURRENCE | In four patients of a Japanese family | ||
HAPLOTYPE | Not determined | ||
FOUND IN COMBINATION WITH ABNORMAL HB(S) | Not reported | ||
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) | Not reported | ||
OTHER INFORMATION | None |
REFERENCES | |||
1. | Ohba, Y., Hattori, Y., Harano, T., Harano, K., Fukumaki, Y., Ideguchi, H., Cho, H.I., and Park, S.S.: Hemoglobin, 21:191, 1997. |