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| MUTATION | |
5'UTR; +33 (C->G) | |
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| AMINO ACID REPLACEMENT | |
None | |
| TYPE OF BETA-THAL | |
beta+ (silent) | |
| MECHANISM | |
Decreased transcription | |
| IDENTIFICATION | |
Amplification of the beta-globin gene; DNA sequencing | |
| HEMATOLOGY IN HETEROZYGOTE(S) | |
Hb A2 3.6%; alpha/beta ratio 0.98; normal red cell indices (Ref. 1). Others (Ref. 2); Hb 16.0, 12.1, 10.6 g/dl; MCV 75.8, 86.5, 81.7 fl; MCH 25.5, 29.1, 25.8 pg; Hb A2 1.4, 2.9, 2.7%; Hb F 0.2, 1.6, 0.7%; alpha/beta ratio 1.0, 1.5, 1.3 | |
| HEMATOLOGY IN HOMOZYGOTE(S) | |
Not reported | |
| OCCURRENCE | |
In a Greek Cypriot family (Ref. 1); in two additional Greek Cypriot families (Ref. 2) | |
| HAPLOTYPE | |
II [- O + + - + + +] | |
| FOUND IN COMBINATION WITH ABNORMAL HB(S) | |
Not reported | |
| FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) | |
Proband was compound heterozygote for this mutation and for IVS-I-110 (G->A); Hb 7.8 g/dl; MCV 66 fl; MCH 18.5 pg; Hb A2 4.7%; Hb F 3.7%; beta/alpha in vitro globin synthesis ratio 0.2; transfusions not required (Ref. 1); others (Ref. 2): | |
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| Mutation: +33 (C->G) + | Sex-Age | Hb | MCV | MCH | Hb A2 | Hb F | alpha/beta |
| CD 39 (C->T) | M-27 | 11.7 | 65.9 | 19.1 | 6.6 | 0.9 | - |
| Same | M-25 | 10.7 | 72.3 | 22.8 | 6.2 | 4.8 | 4.2 |
| Same | F-20 | 10.5 | 57.1 | 18.1 | 5.4 | 1.2 | 2.7 |
| IVS-I-1 (G->A) | M-74 | 7.1 | 64.2 | 18.6 | 6.35 | 3.5 | 5.0 |
| IVS-I-110 (G->A) | F-24 | 9.4 | 64.3 | 19.7 | 5.46 | 3.5 | - |
| Same | F-18 | 10.4 | 63.6 | 20.1 | 5.27 | 4.1 | 2.8 |
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| OTHER INFORMATION | |
mRNA analysis showed 25-35% normal mRNA | |
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| REFERENCES |
| 1. | |
Traeger-Synodinos, J., Maragoudaki, E., Vrettou, C., Michael, Th., Kanavakis, E., and Kattamis, C.: Br. J. Haematol., 93 (Suppl. 2) (Abstract 100), 1996. | |
| 2. | |
Ho, P.J., Rochette, J., Fisher, C.A., Wonke, B., Jarvis, M.K., Yardumian, A., and Thein, S.L.: Blood, 87:1170, 1996. | |