MUTATION | - -(CAL); deletion of 32 kb involving both the alpha and the zeta genes (see Fig. 24) | ||
---|---|---|---|
AMINO ACID REPLACEMENT | None | ||
TYPE OF ALPHA-THAL | alpha-Thal-1 [- -/] | ||
MECHANISM | Deletion of alpha2-, alpha1-, and zeta-globin genes results in the complete absence of functional alpha- and zeta-mRNAs | ||
IDENTIFICATION | Gene mapping | ||
HEMATOLOGY IN HETEROZYGOTE(S) | Hb 13.1 g/dl; MCV 72 fl; MCH 23 pg | ||
HEMATOLOGY IN HOMOZYGOTE(S) | None | ||
OCCURRENCE | Found in a few Italian and Spanish families | ||
HAPLOTYPE | Not determined | ||
FOUND IN COMBINATION WITH ABNORMAL HB(S) | Not reported | ||
FOUND IN COMBINATION | With the -alpha(3.7 kb) deletion causing Hb H disease: Hb 9.5-10.7 g/dl; MCV 58-59 fl; MCV 16.4-19.0 pg; Hb A2 1.5-1.8%; Hb H 9%; alpha/beta ratio 0.5-0.65; splenomegaly; Heinz bodies | ||
OTHER INFORMATION | None |
REFERENCES | |||
1. | Fortina, P., Dianzani, I., Serra, A., Gottardi, E., Saglio, G., Farinasso, L., Piga, A., Gabutti, V, and Camaschella, C.: Br. J. Haematol., 78:529, 1991. | ||
2. | Villegas, A., Sanchez, J., Gonzalez, F.A., Carreño, D.L., and Ropero, P.: Am. J. Hematol., 46:367, 1994. |