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CONTACT | |
Internal | |
HEMATOLOGY | |
Mild microcytosis, hypochromia in the heterozygote | |
ELECTROPHORESIS | |
Hb X cannot be detected by starch gel, cellulose acetate, or IEF | |
CHROMATOGRAPHY | |
Not reported | |
STRUCTURE STUDIES | |
Not possible; Hb X is detected by sequencing of amplified DNA | |
DNA ANALYSES | |
A CTG->CCG mutation at codon 125 of the alpha2 gene (Ref. 3) | |
FUNCTIONAL STUDIES | |
Not reported | |
STABILITY | |
Unstable; Hb X has never been observed | |
OCCURRENCE | |
Found in Chinese families | |
OTHER INFORMATION | |
Quantity in heterozygotes undetermined; observed in many Chinese families in combination with an alpha-thal-1 causing Hb H disease (alphaQSalpha/--) | |
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REFERENCES |
1. | |
Goossens, M., Lee, K.Y., Liebhaber, S.A., and Kan, Y.W.: Nature, 296:864, 1982. | |
2. | |
Liebhaber, S.A. and Kan, Y.W.: J. Clin. Invest., 71:461, 1983. | |
3. | |
Liang, S., Wen, X-J., and Lin, W-X.: Hemoglobin, 15:535, 1991. | |
4. | |
Liang, R., Liang, S., Jiang, N.H., Wen, X-J., Zhao, J-B., Nechtman, J.F., Stoming, T.A., and Huisman, T.H.J.: Br. J. Haematol., 86:351, 1994. | |