| Hb Luxembourg | alpha24(B5)Tyr->His |
|---|
| CONTACT | Internal | ||
| HEMATOLOGY | Mild hemolysis; reticulocytosis; no anemia in the heterozygote | ||
| ELECTROPHORESIS | Hb X migrates with a pI similar to Hb A1c on IEF | ||
| CHROMATOGRAPHY | Not reported | ||
| STRUCTURE STUDIES | Tryptic digestion; separation of peptides by fingerprinting on an HPLC column; amino acid analysis | ||
| DNA ANALYSES | Not reported; presumed mutation TAT->CAT; alpha2 or alpha1 | ||
| FUNCTIONAL STUDIES | Not reported | ||
| STABILITY | Slightly unstable | ||
| OCCURRENCE | Found in two Dutch families | ||
| OTHER INFORMATION | Quantity in the heterozygote estimated at 20-22% |
| REFERENCES | |||
| 1. | Groff, P., Galacteros, F., Kalmes, G., Blouquit, Y., and Wajcman, H.: Hemoglobin, 13:429, 1989. | ||
| 2. | Moo-Penn, W.F., Hine, T.K., Johnson, M.H., Jue, D.L., Piersma, H., Therrell, B., Jr., and Chu, A.: Hemoglobin, 15:97, 1991. | ||