MUTATION | 3.7 kb (type II) deletion involving the 3' part of the alpha2 gene and 5' part of the alpha1 gene | ||
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AMINO ACID REPLACEMENT | None | ||
TYPE OF ALPHA-THAL | alpha-Thal-2 [-alpha/] | ||
MECHANISM | See Fig. 22 | ||
IDENTIFICATION | Gene mapping; PCR methodology with probes 5' and 3' to the deletion; ApaI digestion | ||
HEMATOLOGY IN HETEROZYGOTE(S) | Not reported | ||
HEMATOLOGY IN HOMOZYGOTE(S) | Not reported | ||
OCCURRENCE | In various Southeast Asian populations at rather low frequencies | ||
HAPLOTYPE | Not determined | ||
FOUND IN COMBINATION WITH ABNORMAL HB(S) | Not reported | ||
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) | Not reported | ||
OTHER INFORMATION | None |
REFERENCES | |||
1. | Higgs, D.R., Hill, A.V.S., Bowden, D.K., Weatherall, D.J., and Clegg, J.B.: Nucleic Acids Res., 12: 6965, 1984. |