MUTATION | IVS-I-117 (G->A) alpha1 gene; | ||||
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32 | |||||
AMINO ACID REPLACEMENT | None | ||||
TYPE OF ALPHA-THAL | alpha-Thal-2 [alphaalpha(T)/alphaalpha] | ||||
MECHANISM | This G->A replacement occurs in the acceptor splicing site which interferes with the correct splicing of the RNA | ||||
IDENTIFICATION | Amplification; sequencing; dot-blot analysis with allele specific probes; ASO | ||||
HEMATOLOGY IN HETEROZYGOTE(S) | Not observed | ||||
HEMATOLOGY IN HOMOZYGOTE(S) | The only homozygote was also compound heterozygous for Hb S and a beta+-thal | ||||
OCCURRENCE | Found in several Indian families | ||||
HAPLOTYPE | Not determined | ||||
FOUND IN COMBINATION | With Hb S and beta-thal; see figure below for the effect on the quantities of Hb S in alpha-thal carriers. | ||||
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OTHER INFORMATION | None |
REFERENCES | |||
1. | Çürük, M.A., Baysal, E., Gupta, R.B., Sharma, S., and Huisman, T.H.J.: Br. J. Haematol., 85:148, 1993. |