Hb Luxembourg | alpha24(B5)Tyr->His |
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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. |