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MUTATION | |
-87 (C->T) | |
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-90 -85 | | CCACACCCT-> CCACACTCT | |
AMINO ACID REPLACEMENT | |
None | |
TYPE OF BETA-THAL | |
beta+ | |
MECHANISM | |
Decrease in beta-globin gene transcription because of decreased binding of transcriptional factors | |
IDENTIFICATION | |
Amplification of the beta-globin gene; DNA sequencing | |
HEMATOLOGY IN HETEROZYGOTE(S) | |
Mother is a heterozygote; Hb A2 5.5%; minimal anemia; slightly changed red cell indices | |
HEMATOLOGY IN HOMOZYGOTE(S) | |
None | |
OCCURRENCE | |
In a German-Italian patient | |
HAPLOTYPE | |
I | |
FOUND IN COMBINATION WITH ABNORMAL HB(S) | |
None | |
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) | |
Proband is compound heterozygous for the IVS-I-110 (G->A) and the -87 (C->T) mutations; moderate anemia, normal physical development | |
OTHER INFORMATION | |
In vitro analysis showed a decrease of ~50% in transcriptional activity | |