MUTATION | Codons 37/38/39 (-7 nts) | ||
---|---|---|---|
37 38 39 40 40 | |||
AMINO ACID REPLACEMENT | None | ||
TYPE OF BETA-THAL | beta° | ||
MECHANISM | Loss of seven nucleotides results in a frameshift with a termination codon at the new codon 37 (TGA) | ||
IDENTIFICATION | AvaII digestion; cloning of the beta-globin gene; sequenc-ing | ||
HEMATOLOGY IN HETEROZYGOTE(S) | Not given | ||
HEMATOLOGY IN HOMOZYGOTE(S) | Patient is a homozygote; parents are first cousins; no hematology data provided | ||
OCCURRENCE | Turkish family | ||
HAPLOTYPE | Type I | ||
FOUND IN COMBINATION WITH ABNORMAL HB(S) | None | ||
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) | None | ||
OTHER INFORMATION | None |
REFERENCES | |||
1. | Schnee, J., Griese, E-U., Eigel, A., and Horst, J.: Blood, 73:2224, 1989. |