|
|
|
|
| MUTATION | |
4.2 kb deletion involving the alpha2 gene | |
| |
| AMINO ACID REPLACEMENT | |
None | |
| TYPE OF ALPHA-THAL | |
alpha-Thal-2 [-alpha/] | |
| MECHANISM | |
See Figs. 21 and 22 | |
| IDENTIFICATION | |
Gene mapping; PCR methodology with probes 5' and 3' to the deletion | |
| HEMATOLOGY IN HETEROZYGOTE(S) | |
| Teenagers: | Adults: | | MCV | 79.5±4.4 fl (n=4) | 84.5±4.2 fl (n=17) | | MCH | 24.7±0.3 pg (n=4) | 26.4±1.3 pg (n=17) |
| |
| HEMATOLOGY IN HOMOZYGOTE(S) | |
| MCV | 74.7±7.0 fl | | MCH | 22.3±2.1 pg (n=3) |
| |
| OCCURRENCE | |
In various East Asian populations; India; China | |
| 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 hematological abnormalities might be slightly more severe than in the -alpha(3.7)/alphaalpha and -alpha(3.7)/-alpha(3.7) (type III) conditions; the reason is the deletion of the alpha2 gene in the former and of the alpha1 gene in the latter | |
|
|
|
|
| REFERENCES |
| 1. | |
Embury, S.H., Miller, J.A., Dozy, A.M., Yan, Y.W., Chan, V., and Todd, D.: J. Clin. Invest., 66:1319, 1980. | |
| 2. | |
Bowden, D.K., Hill, A.V.S., Higgs, D.R., Oppenheimer, S.J., Weatherall, D.J., and Clegg, J.B.: J. Clin. Invest., 79:39, 1987. | |
| 3. | |
Baysal, E. and Huisman, T.H.J.: Am. J. Hematol., 46:208, 1994. | |
| 4. | |
Chang, J.G., Liu, T.C., Chiou, S.S., Chen, J.T., Chen, T.P., and Lin, C.P.: Ann. Hematol., 69:205, 1994. | |
| 5. | |
Gupta, R.B., Tiwary, R.S., Pande, P.L., Kutlar, F., Öner, C., Öner, R., and Huisman, T.H.J.: Hemoglobin, 15:441, 1991. | |
| 6. | |
Fodde, R., Losekoot, M., van den Broek, M.H., Oldenburg, M., Rashida, N., Schreuder, A., Wijnen, J.T., Giordano, P.C., Nayudu, N.V.S., Meera Khan, P., and Bernini, L.F.: Hum. Genet., 80:157, 1988. | |