Hb Paksé | alpha142, Term->Tyr (TAA->TAT at alpha2); |
---|---|
C-terminal sequence was not determined because the Hb | |
could not be isolated; it appears likely that it will be | |
the same as Hb CS except that residue 142 is TYR |
HEMATOLOGY | Probably normal in the heterozygote | ||
ELECTROPHORESIS | Not observed | ||
CHROMATOGRAPHY | Not observed | ||
STRUCTURE STUDIES | Not done | ||
DNA ANALYSES | A TAA->TAT mutation at codon alpha142 (alpha2); the Hb Paksé abnormality can best be detected by sequencing of the alpha2 gene or by dot-blot analysis with specific probes | ||
FUNCTION STUDIES | Not done | ||
STABILITY | Not done | ||
OCCURRENCE | Found in a Laotian family | ||
OTHER INFORMATION | Observed in associated with alpha-thal-2 |
REFERENCES | |||
1. | Waye, J.S., Eng, B., Patterson, M., Chui, D.H.K., and Olivieri, N.F.: Blood, 83: 3418, 1994. | ||
2. | Smetanina, N.S., Leonova, J.Y., Levy, N., and Huisman, T.H.J.: Acta Haematol., 94:144, 1995. |