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| MUTATION | |
AATAAA->AATGAA of the alpha2 gene (poly A signal) | |
| |
| AMINO ACID REPLACEMENT | |
None | |
| TYPE OF ALPHA-THAL | |
alpha-Thal-2 [alpha(T)alpha/alphaalpha] | |
| MECHANISM | |
This mutation in the poly A signal results in an extended transcript with a new signal 1048 bp 3' to the terminating codon; nonfunctional mRNA | |
| IDENTIFICATION | |
Amplification of the alpha2-globin gene; DNA sequencing; dot-blot analysis with allele specific probes | |
| HEMATOLOGY IN HETEROZYGOTE(S) | |
Mild anemia; microcytosis; hypochromia | |
| HEMATOLOGY IN HOMOZYGOTE(S) | |
Not observed | |
| OCCURRENCE | |
In Turkish, Cypriot, and Kuwaiti families | |
| HAPLOTYPE | |
Not determined | |
| FOUND IN COMBINATION | |
With Hb S | |
| FOUND IN COMBINATION | |
With the deletional MED-II allele causing Hb H disease; hematology: | |
| |
| Sex-Age | Alpha genes | Hb
g/dl | PCV
l/l | RBC
1012/l | MCV
fl | MCH
pg | MCHC
g/dl | A2
% | H
% |
| M-50 | - -/alpha(T)alpha | 11.1 | 0.439 | 5.43 | 80.8 | 20.4 | 25.3 | 0.7 | 14.0 |
| F-24 | - -/alpha(T)alpha | 10.0 | 0.377 | 5.19 | 72.6 | 19.3 | 26.5 | 1.0 | 10.0 |
| F-16 | - -/alpha(T)alpha | 9.0 | 0.349 | 5.13 | 68.0 | 17.5 | 25.8 | 1.1 | 12.0 |
| F-30 | - -/alpha(T)alpha | 7.8 | 0.307 | 3.99 | 76.9 | 19.5 | 25.4 | 0.5 | 8.0 |
| |
| OTHER INFORMATION | |
None | |
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| REFERENCES |
| 1. | |
Yüregir, G.T., Aksoy, K., Çürük, M.A., Dikmen, N., Fei, Y-J., Baysal, E., and Huisman, T.H.J.: Br. J. Haematol., 80:527, 1992. | |
| 2. | |
Fei, Y-J., Oner, R., Bozkurt, G., Gu, L-H., Altay, Ç., Gurgey, A., Fattoum, S., Baysal, E., and Huisman, T.H.J.: Acta Haematol., 88:82, 1992. | |
| 3. | |
Adekile, A.D., Gu, L-H., Baysal, E., Haider, M.Z., Al-Fuzae, L., Aboobacker, K.C., Al-Rashied, A., and Huisman, T.H.J.: Acta Haematol., 92:176, 1994. | |