TYPE | Malay-1 Ggamma(Agammadeltabeta)°-Thal (see Fig. 16) | ||
---|---|---|---|
CAUSE | The Malay-1 deletion begins close to the 3' end of the Ggamma gene and extends through the Agamma, delta, and beta genes to an unknown region. The deletion is very similar at the 5' end to the Cantonese and Thai (Agammadeltabeta)°-thal, namely about 1 kb 3' to the Ggamma gene. | ||
DETECTION | Gene mapping with different probes and enzymes. | ||
PHENOTYPE | The proband is a compound heterozygote for the Malay-1 (Agammadeltabeta)°-thal and Hb E, with a mild anemia; Hb 11.4 g/dl; MCV 74 fl; MCH 24 pg, Hb F was 46% (Ggamma chains only). The patient's son is a simple heterozygote for the Malay-1 deletion with the following hematology: Hb 12.8 g/dl; MCV 79 fl; MCH 26 pg; Hb A2 2.4%; Hb F 25%. | ||
DISTRIBUTION | Found in one Malay family. |
REFERENCES | |||
1. | Trent, R.J., Jones, R.W., Clegg, J.B., Weatherall, D.J., Davidson, R., and Wood, W.G.: Br. J. Haematol., 57:279, 1984. |