Hb Terre Haute | beta106(G8)Leu->Arg |
---|
CONTACT | Internal; heme contact | ||
HEMATOLOGY | Anemia in the heterozygote | ||
IDENTIFICATION | Hb X was identified through sequence analysis of the PCR product of DNA isolated from a 10-year-old microscopic slide. Sequence was limited to the third exon; codon 112 was normal (TGT for cysteine) but a T->G mutation was observed at codon 106 (CTG->CGG) | ||
FUNCTION STUDIES | Not reported | ||
STABILITY | Unstable | ||
OCCURRENCE | Found in two (deceased) persons | ||
OTHER INFORMATION | Previously identified as Hb Indianapolis [beta112(G14)Cys-> Arg]; the error was corrected in this abstract. For further details see beta112-Hb Indianapolis |
REFERENCES | |||
1. | Coleman, M.B., Steinberg, M.H., and Adams, J.G., III: Blood, 76:57a (Suppl. 1), 1990. | ||
2. | Coleman, M.B., Steinberg, M.H., and Adams, J.G., Ill: J. Biol. Chem., 266:5798, 1991. | ||
3. | Girodonm, E., Ghanem, N., Vidaud, M., Riou, J., Martin, J., Galactéros, F., and Goossens, M.: Ann. Hematol., 65:188, 1992. |