MUTATION | Codon 11 (-T); GTT(Val)->GT- | ||
---|---|---|---|
AMINO ACID REPLACEMENT | None | ||
TYPE OF BETA-THAL | beta° | ||
MECHANISM | This frameshift results in termination of translation at codon 18 (TGA) | ||
IDENTIFICATION | Sequencing of amplified DNA; RsaI digestion | ||
HEMATOLOGY IN HETEROZYGOTE(S) | Hb 9.5-13.0 g/dl; MCV 60-64 fl; MCH 17.0-18.5 pg; Hb A2 5.5-5.6%; Hb F 1.4-4.4% | ||
HEMATOLOGY IN HOMOZYGOTE(S) | None known | ||
OCCURRENCE | Mexican family (Mestizo-Mexican) | ||
HAPLOTYPE | [- O + + - - + -] | ||
FOUND IN COMBINATION WITH ABNORMAL HB(S) | None known | ||
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) | Found in combination with the -28 (A->C) allele causing severe anemia [Hb 5.4 g/dl; MCV 85 fl; MCH 30 pg; Hb A2; Hb F no data (transfused)] | ||
OTHER INFORMATION | None |
REFERENCES | |||
1. | Economou, E.P., Antonarakis, S.E., Dowling, C.C., Ibarra, B., del Mora, E., and Kazazian, H.H., Jr.: Genomics, 11:474, 1991. | ||
2. | Perea, F.J., Amparo Esparza, M., Villalobos-Arambula, A.R., Ibarra, B., and Old, J.M.: Am. J. Hematol., 51:240, 1996. |