MUTATION | - -(BRIT); deletion of ~26 kb involving both alpha genes (see Fig. 24) | ||
---|---|---|---|
AMINO ACID REPLACEMENT | None | ||
TYPE OF ALPHA-THAL | alpha-Thal-1 [- -/] | ||
MECHANISM | Deletion of both alpha-globin genes results in the absence of any alpha-mRNAs | ||
IDENTIFICATION | Gene mapping | ||
HEMATOLOGY IN HETEROZYGOTE(S) | Hb 12.5-13.5 g/dl; MCV and MCH decreased | ||
HEMATOLOGY IN HOMOZYGOTE(S) | Not reported | ||
OCCURRENCE | In a few British families and in a Black family | ||
HAPLOTYPE | Not determined | ||
FOUND IN COMBINATION | With Hb S | ||
FOUND IN COMBINATION | With the -alpha(3.7 kb) deletion causing Hb H disease: Hb 9 g/dl; MCV 55-60 fl; MCH 17-20 pg; Hb H ~12%; alpha/beta ratio ~0.5-0.6 | ||
OTHER INFORMATION | None |
REFERENCES | |||
1. | Higgs, D.R., Ayyub, H., Clegg, J.B., Hill, A.V.S., Nicholls, R.D., Teal, H., Wainscoat, J.S., and Weatherall, D.J.: Br. Med. J., 290:1303, 1985. | ||
2. | Steinberg, M.H., Coleman, M.B., Adams, J.G., III, Hartmann, R.C., Saba, H., and Anagnou, N.P.: Blood, 67:469, 1986. |