Hb Taybe | alpha38(C3) or alpha39(C4) Thr->0 (alpha1) |
---|
HEMATOLOGY | Normal in the heterozygote; perhaps slight microcytosis | ||
ELECTROPHORESIS | No resolution | ||
CHROMATOGRAPHY | No resolution | ||
STRUCTURE STUDIES | Tryptic digestion of alphaX chain; separation of peptides by reversed phase HPLC; amino acid analysis | ||
DNA ANALYSES | Sequence analysis has identified a frameshift (-ACC) at codon 38 or 39 of the alpha1 gene | ||
FUNCTION STUDIES | Unknown | ||
STABILITY | Unstable | ||
OCCURRENCE | Found in a few Arabian families in Israel | ||
OTHER INFORMATION | Quantity in the heterozygote not known; occurred in combination with a nondeletional alpha-thal; homozygosity has been described; this person suffered from severe hemolytic anemia |
REFERENCES | |||
1. | Girodon, E., M'Rad, A., Martin, J., Goossens, M., Galacteros, F., Rosa, J., Gisselbrecht, C., Boiron, M., Cohen, I.J., Jaber, L., Tamari, H., Goshen, J., Zaizov, R., and Wajcman, H.: Blood, 80:388a (Suppl. 1), 1992. | ||
2. | Galacteros, F., Girodon, E., M'Rad, A., Martin, J., Goossens, M., Jaber, L., Cohen, I.J., Tamary, H., Goshen, Y., Zaizov, R., and Wajcman, H.: C.R. Acad. Sci. Paris, 317:437, 1994. | ||
3. | Pobedimskaya, D.D., Molchanova, T.P., Streichman, S., and Huisman, T.H.J.: Am. J. Hematol., 47:198, 1994. |