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ALSO KNOWN AS | |
J-Aljezur | |
CONTACT | |
External | |
HEMATOLOGY | |
Normal in the heterozygote | |
ELECTROPHORESIS | |
Hb X moves faster than Hb A on starch gel and cellulose acetate (pH 8.6); it moves with Hb A on agar gel | |
CHROMATOGRAPHY | |
Hb X was isolated by DEAE-Sephadex chromatography | |
STRUCTURE STUDIES | |
Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis; Edman-degradation | |
DNA ANALYSES | |
Mutations in both the alpha2 and alpha1 genes: GCC->GAC at codon 12 (Ref. 6) | |
FUNCTIONAL STUDIES | |
Not reported | |
STABILITY | |
Normal | |
OCCURRENCE | |
Found in Spanish, Portuguese, Iranian, Yugoslavian, and Punjabi families | |
OTHER INFORMATION | |
Quantity in heterozygotes 26.6% | |
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REFERENCES |
1. | |
Rosa, J., Maleknia, N., Vergoz, D., and Dunet, R.: Nouv. Rev. Fr. d'Hematol., 6: 423, 1965. | |
2. | |
Trincao, C., Martins de Melo, J., Lorkin, P.A., and Lehmann, H.: Acta Haematol., 39:291, 1968. | |
3. | |
Rahbar, S., Sooudi, H., and Daneshmand, P.: Acta Haematol., 47:43, 1972. | |
4. | |
Niazi, G.A., Efremov, G.D., Nikolov, N., Hunter, E., and Huisman, T.H.J.: Biochim. Biophys. Acta, 412:181, 1975. | |
5. | |
Dash, S. and Huisman, T.H.J.: Acta Haematol., 79:117, 1988. | |
6. | |
Molchanova, T.P., Pobedimskaya, D.D., and Huisman, T.H.J.: Br. J. Haematol., 88:300, 1994. | |