MUTATION | ~27 kb deletion (see Fig. 4); the Southeast Asian (SEA) deletion | ||
---|---|---|---|
AMINO ACID REPLACEMENT | None | ||
TYPE OF BETA-THAL | beta° | ||
MECHANISM | No beta chain production; greatly increased gamma chain synthesis | ||
IDENTIFICATION | Gene mapping | ||
HEMATOLOGY IN HETEROZYGOTE(S) | Hb 11.4-16.2 g/dl; MCV 76-80 fl; MCH 21.6-26.2 pg; Hb A2 4.1, 4.0, 5.1, 4.1, 4.8%; Hb F 20.1, 23.8, 16.8, 20.5, 14.1% | ||
HEMATOLOGY IN HOMOZYGOTE(S) | None | ||
OCCURRENCE | In a few Vietnamese, Cambodian, and Chinese families | ||
HAPLOTYPE | Not determined | ||
FOUND IN COMBINATION WITH ABNORMAL HB(S) | None | ||
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) | None | ||
OTHER INFORMATION | The deletion includes the entire beta-globin gene |
REFERENCES | |||
1. | Dimovski, A.J., Divoky, V., Adekile, A.D., Baysal, E., Wilson, J.B., Prior, J.F., Raven, J.L., and Huisman, T.H.J.: Blood, 83:822, 1994. |