MUTATION | -87 (C->A) | ||
---|---|---|---|
-90 -85 | |||
AMINO ACID REPLACEMENT | None | ||
TYPE OF BETA-THAL | beta+ | ||
MECHANISM | The C->A mutation likely decreases the transcription of the beta-globin gene because of decreased binding of transcription factors | ||
IDENTIFICATION | Amplification of the beta-globin gene; DNA sequencing; ASO | ||
HEMATOLOGY IN HETEROZYGOTE(S) | Father is the likely carrier but he was not studied | ||
HEMATOLOGY IN HOMOZYGOTE(S) | Not observed | ||
OCCURRENCE | In one Black family | ||
HAPLOTYPE | Not done | ||
FOUND IN COMBINATION WITH ABNORMAL HB(S) | Not reported | ||
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) | The proband is a compound heterozygote for the -88 (C->T) and the -87 (C->A) mutations; Hb 9.4 g/dl; PCV .30 l/l; MCV 59.5 fl; reticulocytes 2.7%; Hb A2 10.4%; Hb F 35.6%; Hb A 54%; thalassemia intermedia | ||
OTHER INFORMATION | None |
REFERENCES | |||
1. | Coleman, M.B., Steinberg, M.H., Harrell, A.H., Plonczynski, M.W., Walker, A.M., and Adams, J.G., III: Hemoglobin, 16:399, 1992. |