Hb Le Lamentin | alpha20(B1)His->Gln |
---|
CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X moves with Hb A on cellulose acetate (pH 8.6) and citrate agar (pH 6.0); it is more anodal than Hb A1c on IEF | ||
CHROMATOGRAPHY | Hb X was isolated on a Bio-Rex 70 column | ||
STRUCTURE STUDIES | Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis | ||
DNA ANALYSES | Mutation in the alpha2 gene: CAC->CAA at codon 20 (Ref. 4) | ||
FUNCTIONAL STUDIES | Normal | ||
STABILITY | Normal | ||
OCCURRENCE | Found in families from Martinique, Japan, and Spain | ||
OTHER INFORMATION | Quantity in heterozygotes 20% |
REFERENCES | |||
1. | Sellaye, M., Blouquit, Y., Galacteros, F., Arous, N., Monplaisir, N., Rhoda, M.D., Braconnier, F., and Rosa, J.: FEBS Lett., 145:128, 1982. | ||
2. | Harano, T., Harano, K., Shibata, S., Ueda, S., Imai, K., Tsuneshige, A., Uchida, E., and Horiuchi, K.: Hemoglobin, 7:181, 1983. | ||
3. | Malcorra-Azpiazu, J.J., Balda-Aguirre, M.I., Diaz-Chico, J.C., Kutlar, F., Kutlar, A., Hu, H., and Huisman, T.H.J.: Hemoglobin, 12:201, 1988. | ||
4. | Molchanova, T.P., Pobedimskaya, D.D., and Huisman, T.H.J.: Br. J. Haematol., 88:300, 1994. |