MUTATION | - -(CANT); a deletion of 14.0-15.4 kb removing both alpha-globin genes (see Fig. 24 for location) | ||
---|---|---|---|
AMINO ACID REPLACEMENT | None | ||
TYPE OF ALPHA-THAL | alpha-Thal-1 [- -/] | ||
MECHANISM | The deletion of the two alpha-globin genes prevents the formation of functional alpha-mRNAs | ||
IDENTIFICATION | Gene mapping | ||
HEMATOLOGY IN HETEROZYGOTE(S) | Hb 11.6-15.2 g/dl; MCV 61-71 fl; MCH 20-24 pg; Hb A2 1.0-2.4%; alpha/beta ratio 0.6-0.7 | ||
HEMATOLOGY IN HOMOZYGOTE(S) | Not reported | ||
OCCURRENCE | In three members of a Spanish family | ||
HAPLOTYPE | Not determined | ||
FOUND IN COMBINATION WITH ABNORMAL HB(S) | Not reported | ||
FOUND IN COMBINATION WITH alpha-THAL ALLELE(S) | Not observed | ||
OTHER INFORMATION | No inclusion bodies |
REFERENCES | |||
1. | Villegas, A., Sanchez, J., Ricard, P., Gonzalez, F.A., Del Potro, E., Armada, B., Carreno, D.L., and Espinos, D.: Hemoglobin, 18:29, 1994. |