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MUTATION | |
Codon 54 (-T); GTT(Val)->GT- | |
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AMINO ACID REPLACEMENT | |
None | |
TYPE OF BETA-THAL | |
beta° | |
MECHANISM | |
The deletion of T from codon 54 results in a frameshift with a nonsense codon at codon 60 (TGA) and premature termination of translation | |
IDENTIFICATION | |
Amplification of the beta-globin gene; DNA sequencing | |
HEMATOLOGY IN HETEROZYGOTE(S) | |
Hb 9.5-12.3 g/dl; MCV 58-66 fl; reticulocytes 56-69 x 109/l; Hb A2 5.1-6.2% | |
HEMATOLOGY IN HOMOZYGOTE(S) | |
Not reported | |
OCCURRENCE | |
In an Algerian family; the proband is a homozygote; also in a Swedish family | |
HAPLOTYPE | |
Not done | |
FOUND IN COMBINATION WITH ABNORMAL HB(S) | |
None | |
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) | |
None | |
OTHER INFORMATION | |
None | |