|
|
|
|
| NOTE: | |
This variant was previously identified as having the glutamine residue at beta131 deleted and was named Hb Leslie or Hb Deaconess; correction was made in Refs. 4 and 5 | |
| CONTACT | |
Internal; alpha1beta1 contact | |
| HEMATOLOGY | |
Nearly normal in the heterozygote | |
| ELECTROPHORESIS | |
Hb X and Hb A separate at alkaline pH; Hb X migrates in the Hb F position on cellulose acetate; at acidic pH Hb X moves between Hb S and Hb C | |
| CHROMATOGRAPHY | |
Hb X and Hb A readily separate in cation and anion exchange chromatography | |
| STRUCTURE STUDIES | |
Tryptic digestion of AE-betaX chain; separation of peptides by fingerprinting and cation exchange HPLC; amino acid analysis; sequencing | |
| DNA ANALYSES | |
A CAG->AAG mutation at codon 131 (Ref. 6) | |
| FUNCTION STUDIES | |
Normal | |
| STABILITY | |
Mildly unstable | |
| OCCURRENCE | |
Found mainly in a few Black families | |
| OTHER INFORMATION | |
Quantity in the heterozygote ~35%; has been found in combination with Hb S, Hb C, alpha-, and beta-thal | |
|
|
|
|
| REFERENCES |
| 1. | |
Lutcher, C.L., Wilson, J.B., Gravely, M.E., Stevens, P.D., Chen, C.J., Lindeman, J.G., Wong, S.C., Miller, A., Gottleib, M., and Huisman, T.H.J.: Blood, 47:99, 1976. | |
| 2. | |
Felice, A., Abraham, E.C., Miller, A., Stallings, M., and Huisman, T.H.J.: Am. J. Hematol., 5:1, 1978. | |
| 3. | |
Carcassi, U.E.F., Pintus, A., Gravely, M.E., and Huisman, T.H.J.: Hemoglobin, 4:195, 1980. | |
| 4. | |
Moo-Penn, W.F., Johnson, M.H., McGuffey, J.E., and Jue, D.L.: Hemoglobin, 8:583, 1984. | |
| 5. | |
Wilson, J.B., Webber, B.B., and Huisman, T.H.J.: Hemoglobin, 8:595, 1984. | |
| 6. | |
Cürük, M.A., Kutlar, A., and Huisman, T.H.J.: Hemoglobin, 16:417, 1992. | |
| 7. | |
Adachi, K., Surrey, S., Tamary, H., Kim, J., Eck, H.S., Rappaport, E., and Ohene-Frempong, K.: Hemoglobin, 17:329, 1993. | |