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MUTATION | |
- -(MC); a deletion of at least 46 kb involving both alpha genes and the zeta gene (see Fig. 24) | |
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AMINO ACID REPLACEMENT | |
None | |
TYPE OF ALPHA-THAL | |
alpha-Thal-1 [- -/] | |
MECHANISM | |
The deletion of the three functional genes results in the complete absence of alpha- and zeta-mRNAs | |
IDENTIFICATION | |
Gene mapping | |
HEMATOLOGY IN HETEROZYGOTE(S) | |
Found in an 18-year-old patient with Hb H disease and perhaps - -(MC)/alpha(T)alpha. Hb 15 g/dl; MCV 70 fl; MCH 22 pg; alpha/beta ratio 0.7; Hb H inclusion bodies. The father appears to have a similar condition (Hb 14.9 g/dl; MCV 74 fl; MCH 24 pg) | |
HEMATOLOGY IN HOMOZYGOTE(S) | |
Not reported | |
OCCURRENCE | |
In a British family | |
HAPLOTYPE | |
Not determined | |
FOUND IN COMBINATION WITH ABNORMAL HB(S) | |
Not reported | |
FOUND IN COMBINATION WITH alpha-THAL ALLELE(S) | |
Not reported | |
OTHER INFORMATION | |
None | |