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HEMATOLOGY | |
Normal in the heterozygote; elevation of Hb F (Ggamma Hb F) | |
ELECTROPHORESIS | |
Hb X moves slightly slower than Hb S at alkaline pH; about the same by IEF | |
CHROMATOGRAPHY | |
Hb X was isolated on DEAE-Sephadex or Amberlite IRC-50 columns | |
STRUCTURE STUDIES | |
Tryptic digestion; separation of peptides by cation exchange chromatography or fingerprinting; amino acid analysis | |
DNA ANALYSES | |
Gene mapping has identified the expected 22.5 kb deletion | |
FUNCTION STUDIES | |
Not reported | |
STABILITY | |
Normal | |
OCCURRENCE | |
Found in several families from Kenya, Uganda, and other countries near Lake Victoria in Africa | |
OTHER INFORMATION | |
Quantity in the heterozygote 6%; with Hb S 16-22%; found in combination with Hb S and Hb A2'; homogeneous distribution of Hb F in red cells | |
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REFERENCES |
1. | |
Huisman, T.H.J., Wrightstone, R.N., Wilson, J.B., Schroeder, W.A., and Kendall, A.G.: Arch. Biochem. Biophys., 153:850, 1972. | |
2. | |
Kendall, A.G., Ojwang, P.J., Schroeder, W.A., and Huisman, T.H.J.: Am. J. Hum. Genet., 25:548, 1973. | |
3. | |
Smith, D.H., Clegg, J.B., Weatherall, D.J., and Gilles, H.M.: Nature, 246:184, 1973. | |
4. | |
Kendall, A.G. and Ojwang, P.J.; E. Afr. Med. J., 51:434, 1974. | |
5. | |
Nute, P.E., Wood, W.G., Stamatoyannopoulos, G., Olweny, C., and Failkow, P.J.: Br. J. Haematol., 32:55, 1976. | |
6. | |
Ojwang, P.J., Nakatsuji, T., Gardiner, M.B., Reese, A.L., Gilman, J.G., and Huis-man, T.H.J.: Hemoglobin, 7:115, 1983. | |