MUTATION | 12,023 bp deletion (see Fig. 4); the Australian deletion | ||
---|---|---|---|
AMINO ACID REPLACEMENT | None | ||
TYPE OF BETA-THAL | beta° | ||
MECHANISM | No beta chain production | ||
IDENTIFICATION | Gene mapping; amplification; sequencing of an amplified region of genomic DNA | ||
HEMATOLOGY IN HETEROZYGOTE(S) | Hb 10.1-13.1 g/dl; MCV 64-70 fl; Hb A2 8.1, 6.9, 7.6, 6.4%; Hb F 2.5, 4.9, 3.0, 7.2% | ||
HEMATOLOGY IN HOMOZYGOTE(S) | Not reported | ||
OCCURRENCE | ? | ||
HAPLOTYPE | Not determined | ||
FOUND IN COMBINATION WITH ABNORMAL HB(S) | Not reported | ||
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) | Not reported | ||
OTHER INFORMATION | The deletion includes the entire beta-globin gene |
REFERENCES | |||
1. | Motum, P.I., Lindeman, R., Hamilton, T.J., and Trent, R.J.: Br. J. Haematol., 82:107, 1992. |