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CONTACT | |
alpha1beta2 contact | |
HEMATOLOGY | |
Normal in heterozygotes | |
ELECTROPHORESIS | |
Hb X moves to the position of Hb S on starch gel and cellulose acetate at both alkaline and acidic pH | |
CHROMATOGRAPHY | |
Hb A and Hb X separate by cation and anion exchange HPLC | |
STRUCTURE STUDIES | |
Tryptic digestion; separation of peptides by cation exchange chromatography or fingerprinting; amino acid analysis; sequencing | |
DNA ANALYSES | |
Not reported; presumed mutation GAC->TAC; alpha2 or alpha1 | |
FUNCTIONAL STUDIES | |
Oxygen affinity about normal; decreased cooperativity | |
STABILITY | |
Unstable | |
OCCURRENCE | |
Found in families from Algeria, Iran, Lebanon, Saudi Arabia, etc. | |
OTHER INFORMATION | |
Quantity in heterozygotes 12-15%; red cells with Hb Setif "sickle" by intracellular crystallization of insoluble Hb | |
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REFERENCES |
1. | |
Wajcman, H., Belkhodja, O., and Labie, D.: FEBS Lett., 27:298, 1972. | |
2. | |
Debray, J., Krulik, M., Mehaut, M., Benabadji, M., Trabuchet, G., Wajcman, H., Gacon, G., and Labie, D.: Nouv. Rev. Fr. d'Hematol., 14:627, 1974. | |
3. | |
Nozari, G. and Rahbar, S.: Hemoglobin, 1:289, 1977. | |
4. | |
Aubert, J-P., Drupt, F., Rousseaux, J., and Loucheux-Lefebvre, M-H.: 84:375, 1977. | |
5. | |
Raik, E., Powell, E., Fleming, P., and Gordon, S.: Pathology, 15:453, 1983. | |
6. | |
Al-Awamy, B., Niazi, G.A., Wilson, J.B., and Huisman, T.H.J.: Hemoglobin, 9:87, 1985. | |
7. | |
Charache, S., Raik, E., Holtzclaw, D., Hathaway, P.J., Powell, E., and Fleming, P.: Blood, 70:237, 1987. | |