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HEMATOLOGY | |
Mild anemia with microcytosis and hypochromia in the heterozygote (beta+-thal) | |
ELECTROPHORESIS | |
Hb X moves slower than Hb A at alkaline pH and by IEF | |
CHROMATOGRAPHY | |
Hb X and Hb A can be separated on a DEAE-Sephadex column; Hb X elutes between Hb A and Hb A2 by cation exchange HPLC | |
STRUCTURE STUDIES | |
Tryptic digestion of deltabeta chain; separation of peptides by fingerprinting or cation exchange chromatography; amino acid analysis; sequencing | |
DNA ANALYSES | |
A large deletion was observed by gene mapping | |
FUNCTION STUDIES | |
Not reported | |
STABILITY | |
Stable | |
OCCURRENCE | |
Found mainly in Spanish families; also in an individual of African ancestry, and in four members in three generations of a Yugoslavian family | |
OTHER INFORMATION | |
Quantity in heterozygotes 7.1-15%; in homozygotes 30% | |
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REFERENCES |
1. | |
Ostertag, W. and Smith, E.W.: Eur. J. Biochem., 10:371, 1969. | |
2. | |
Efremov, G.D., Rudivic, R., Niazi, G.A., Hunter, E., Huisman, T.H.J., and Schroeder, W.A.: Scand. J. Haematol., 16:81, 1976. | |
3. | |
Villegas, A., Espinos, D., Alvarez-Sala, J.L., Calero, F., Valverde, F., Robb, L., and Lehmann, H.: Acta Haematol., 69:192, 1983. | |