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MUTATION | |
Codon 45 (-T); TTT(Phe)->-TT | |
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AMINO ACID REPLACEMENT | |
None | |
TYPE OF BETA-THAL | |
beta° | |
MECHANISM | |
This deletion of T in codon 45 results in a frameshift with a stop codon at codon 60 (TGA) terminating translation | |
IDENTIFICATION | |
Amplification of the beta-globin gene; DNA sequencing; dot-blot analysis with allele specific probes; ASO | |
HEMATOLOGY IN HETEROZYGOTE(S) | |
Hb 11.1-13.2 g/dl; MCV 57-61, fl; MCH 18.7-18.9 pg; Hb A2 3.8-4.8%; Hb F 4-9% | |
HEMATOLOGY IN HOMOZYGOTE(S) | |
Not reported | |
OCCURRENCE | |
In a large Pakistani family living in the United Arab Emirates | |
HAPLOTYPE | |
Not determined | |
FOUND IN COMBINATION WITH ABNORMAL HB(S) | |
None | |
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) | |
With codons 8/9 (+G); thalassemia major with regular transfusion requirement | |
OTHER INFORMATION | |
None | |