MUTATION | Codons 25/26 (+T); GGT·GAG(Gly-Glu)->GGT·T·GAG(Gly-Term) | ||
---|---|---|---|
AMINO ACID REPLACEMENT | None | ||
TYPE OF BETA-THAL | beta° | ||
MECHANISM | Frameshift leading to a new codon 26 which is a terminating codon (TGA) | ||
IDENTIFICATION | Amplification of the beta-globin gene; sequencing; dot-blot analysis with allele specific probes; ASO | ||
HEMATOLOGY IN HETEROZYGOTE(S) | Found in the mother of the patient; she was not studied | ||
HEMATOLOGY IN HOMOZYGOTE(S) | Not observed | ||
OCCURRENCE | In a Tunisian family | ||
HAPLOTYPE | Not studied | ||
FOUND IN COMBINATION WITH ABNORMAL HB(S) | With Hb S causing severe disease requiring blood transfusions; hematology prior to transfusion: Hb 7.9 g/dl; MCV 74 fl; MCV 22 pg; Hb A2 6.7%; Hb F 14% | ||
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) | None reported | ||
OTHER INFORMATION | None |
REFERENCES | |||
1. | Fattoum, S., Guemira, F., Öner, C., Öner, R., Li, H-W., Kutlar, F., and Huisman, T.H.J.: Hemoglobin, 15:11, 1991. |