MUTATION | - -(CL); deletion of at least 40 kb involving the two alpha and the zeta genes (see Fig. 24) | ||
---|---|---|---|
AMINO ACID REPLACEMENT | None | ||
TYPE OF ALPHA-THAL | alpha-Thal-1 [- -/] | ||
MECHANISM | Deletion of the two alpha-globin genes results in the absence of any functional mRNA | ||
IDENTIFICATION | Not yet reported | ||
HEMATOLOGY IN HETEROZYGOTE(S) | Not yet reported | ||
HEMATOLOGY IN HOMOZYGOTE(S) | Not yet reported | ||
OCCURRENCE | Not reported | ||
HAPLOTYPE | Not reported | ||
FOUND IN COMBINATION WITH ABNORMAL HB(S) | Not reported | ||
FOUND IN COMBINATION WITH alpha-THAL ALLELE(S) | Not reported | ||
OTHER INFORMATION | The deletion of the zeta-globin gene makes it more difficult for any fetus with this anomaly to survive, particularly when another deletion is present on the second chro-mosome |
REFERENCES | |||
1. | Higgs, D.R.: in The Haemoglobinopathies, edited by D.R. Higgs and D.J. Weatherall, Bailliere's Clinical Haematology, Vol. 6, page 117, W.B. Saunders Company, London, 1993. |