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MUTATION | |
3'UTR (-GCATCTGGATTCT) 13 bp deletion between positions +1565 to +1577 (the numbers are relative to the Cap site) | |
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Positions 1560 1565 1570 1575 1580 1585 1590 | | | | | | | CTTGA GCATC TGGAT TCTGC CTAAT AAAAA A deleted poly A site | |
AMINO ACID REPLACEMENT | |
None | |
TYPE OF BETA-THAL | |
beta° (perhaps beta+) | |
MECHANISM | |
The loss of 13 bp may render the mRNA unstable | |
IDENTIFICATION | |
Amplification of the beta-globin gene; DNA sequencing; ASO hybridization; heteroduplex formation; HinfI digestion because this restriction site is lost | |
HEMATOLOGY IN HETEROZYGOTE(S) | |
The mother is a heterozygote; no data reported | |
HEMATOLOGY IN HOMOZYGOTE(S) | |
None | |
OCCURRENCE | |
In a Turkish patient | |
HAPLOTYPE | |
Not reported | |
FOUND IN COMBINATION WITH ABNORMAL HB(S) | |
None | |
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) | |
The patient is a compound heterozygote for this deletion and the IVS-II-745 (C->G) mutation; severely affected and transfusion-dependent | |
OTHER INFORMATION | |
None | |