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| CONTACT | |
Internal | |
| HEMATOLOGY | |
Heterozygote: Normal values but with mild microcytosis and hypochromia; homozygote: Moderate anemia with severe microcytosis and hypochromia | |
| ELECTROPHORESIS | |
No separation at alkaline and acidic pH; Hb X and Hb A can be separated by IEF; more cathodal but very close to Hb A | |
| CHROMATOGRAPHY | |
Hb X and Hb A do not separate by cation exchange chromatography; the betaX and betaA chains can be separated by reversed phase HPLC in which betaX elutes ahead of betaA, and also by PAGE | |
| STRUCTURE STUDIES | |
Tryptic digestion; fingerprinting; cation exchange chromatography; reversed phase HPLC; amino acid analysis; sequencing | |
| DNA ANALYSES | |
A GCC->TCC mutation at codon 27 | |
| FUNCTION STUDIES | |
Decreased oxygen affinity | |
| STABILITY | |
Normal | |
| OCCURRENCE | |
Found in various Mediterranean families; also in combination with classical beta-thal, and with Hb S | |
| OTHER INFORMATION | |
Quantity in the heterozygote 35-40%; thalassemic features due to the creation of an alternate splicing site | |
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| REFERENCES |
| 1. | |
Fessas, Ph., Loukopoulos, D., Loutradi-Anagnostou, A., and Komis, G.: Br. J. Haema-tol., 51:577, 1982. | |
| 2. | |
Arous, N., Galacteros, F., Fessas, Ph., Loukopoulos, D., Blouquit, Y., Komis, G., Sellaye, M., Boussiou, M., and Rosa, J.: FEBS Lett., 147:247, 1982. | |
| 3. | |
Fessas, Ph., Loukopoulos, D., Kokkinou, S., Papasotiriou, Y., and Karaklis, A.: Am. J. Hematol., 21:119, 1986. | |
| 4. | |
Baklouti, F., Dorléac, Morlé, L., Laselve, P., Peyramond, D., Aubry, M., Godet, J., and Delaunay, J.: Blood, 67:957, 1986. | |
| 5. | |
Kutlar, A., Kutlar, F., Aksoy, M., Gurgey, A., Altay, Ç., Wilson, J.B., Diaz-Chico, J.C., and Huisman, T.H.J.: Hemoglobin, 13:7, 1989. | |