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| ALSO KNOWN AS | |
Egypt | |
| CONTACT | |
External | |
| HEMATOLOGY | |
Normal in heterozygotes; mild anemia in homozygotes | |
| ELECTROPHORESIS | |
Hb X and Hb A separate at alkaline pH; Hb X moves about like Hb C; at acid pH Hb X moves close to Hb A | |
| CHROMATOGRAPHY | |
Hb X and Hb A can readily be separated by anion and cation exchange chromatography | |
| STRUCTURE STUDIES | |
Tryptic digestion of AE-betaX chain; separation of peptides by reversed phase HPLC, fingerprinting, cation exchange chromatography or reversed phase HPLC; amino acid analysis | |
| DNA ANALYSES | |
A GAA->AAA mutation at codon 121 | |
| FUNCTION STUDIES | |
Normal | |
| STABILITY | |
Normal | |
| OCCURRENCE | |
Found mainly in Gypsies and in Pomaks (a population group in the Balkan countries) and also in Arabian, Egyptian, and Black families | |
| OTHER INFORMATION | |
Quantity in the heterozygote 30-40%; found in combination with Hb S, Hb C, beta-thal, and alpha-thal; found in the homozygous condition in Bulgaria and Yugoslavia | |
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| REFERENCES |
| 1. | |
Baglioni, C. and Lehmann, H.: Nature, 196:229, 1962. | |
| 2. | |
Vella, F., Beale, D., and Lehmann, H.; Nature, 209:308, 1966. | |
| 3. | |
Milner, P.F., Miller, C., Grey, R., Seakins, M., De Jong, W.W., and Went, L.N.: N. Engl. J. Med., 283:1417, 1970. | |
| 4. | |
Efremov, G., Apostolova, S., Duma, K., Wilson, J.B., and Huisman, T.H.J.: Acta Med. Iug., 37:359, 1973. | |
| 5. | |
Kantchev, K.N., Tcholakov, B.N., Casey, R., Lehmann, H., and El Hazmi, M.: Humangenetik, 26: 93, 1975. | |
| 6. | |
Efremov, G.D., Sadikario, A., Stojancov, A., Dojcinov, D., and Huisman, T.H.J.: Hemoglobin, 1:389, 1977. | |