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MUTATION | |
- -(GEO); 8.5 kb deletion including the alpha2- and alpha1- globin genes (see Fig. 24) | |
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AMINO ACID REPLACEMENT | |
None | |
TYPE OF ALPHA-THAL | |
alpha-Thal-1 [- -/] | |
MECHANISM | |
The deletion removes both alpha-globin genes; no functional alpha2- and alpha1-mRNAs | |
IDENTIFICATION | |
Gene mapping (see scheme below) | |
HEMATOLOGY IN HETEROZYGOTE(S) | |
Hb 14.3 g/dl; MCV 69 fl; MCH 22.2 pg | |
HEMATOLOGY IN HOMOZYGOTE(S) | |
None | |
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[Figure not yet available on-line.] | |
OCCURRENCE | |
In a Black family living in Georgia, USA | |
HAPLOTYPE | |
Not determined | |
FOUND IN COMBINATION WITH ABNORMAL HB(S) | |
Not reported | |
FOUND IN COMBINATION WITH alpha-THAL ALLELE(S) | |
The proband was detected as a newborn with ~25.6% Hb Bart's; hematology at 5 months: Hb 10.4 g/dl; MCV 55 fl; MCH 16.6 pg; the baby is compound heterozygote for this new deletion and the -alpha(3.7 kb) alpha-thal-2 | |
OTHER INFORMATION | |
None | |