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MUTATION | |
Initiation codon (A->G); ATG->GTG of an alpha2alpha1 hybrid gene -alpha(-3.7 kb) | |
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AMINO ACID REPLACEMENT | |
None | |
TYPE OF ALPHA-THAL | |
alpha-Thal-1 [-alpha(T)/alphaalpha] | |
MECHANISM | |
The mutation is found in the initiation codon of an alpha2alpha1 hybrid gene [-alpha(T)] resulting in an alpha-thal-1-like condition; the alpha2alpha1 gene is of the -alpha(3.7 kb) deletion type | |
IDENTIFICATION | |
Gene mapping; cloning; sequencing | |
HEMATOLOGY IN HETEROZYGOTE(S) | |
Father and daughter [-alpha(T)/alphaalpha]: Hb 14.6, 11.9 g/dl; MCV 71, 67 fl; alpha/(beta+gamma) ratio 0.87, 0.87; Hb A2 1.6, 1.6%. Mother [-alpha(-3.7)/alphaalpha]: Hb 15.0 g/dl; MCV 81 fl; alpha/(beta+gamma) ratio 0.92; Hb A2 1.5% | |
HEMATOLOGY IN HOMOZYGOTE(S) | |
Not observed | |
OCCURRENCE | |
In a Black family from Canada | |
HAPLOTYPE | |
Not determined | |
FOUND IN COMBINATION WITH ABNORMAL HB(S) | |
Not reported | |
FOUND IN COMBINATION | |
With an -alpha(3.7 kb) deletion: [-alpha(T)/-alpha(-3.7)]; two subjects with Hb H disease; Hb 9.4, 9.9 g/dl; MCV 51, 54 fl; alpha/(beta+gamma) ratio 0.41, 0.43; Hb A2 1.0, 0.4%; Hb H 2.4, 7.2%; Hb Bart's 2.1, 1.4% | |
OTHER INFORMATION | |
None | |